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searching for Point mutation 310 found (467 total)

alternate case: point mutation

Thyroid hormone receptor beta (1,743 words) [view diff] exact match in snippet view article find links to article

doi:10.1210/jcem.74.5.1314846. PMID 1314846. Behr M, Loos U (1992). "A point mutation (Ala229 to Thr) in the hinge domain of the c-erbA beta thyroid hormone

Hemoglobin E (HbE) is an abnormal hemoglobin with a single point mutation in the β chain. At position 26 there is a change in the amino acid, from glutamic

Onoyama K, Ichiyama A (Jul 1991). "Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase

form of the Hemingway (Hw) mutant the variation is induced by a single point mutation in a noncoding cis-regulatory element for SHH. In an extensive phenotypic

which are consistent with residues that have been implicated both in point mutation experiments as well as in clinical screening that play a role in human

hepatitis with fibrosis of the portal tracts. The genetic cause is due to point mutation (c.-98G>T) in the 5’-untranslated region of Unc-45 myosin chaperone

PMID 16773681. Krynetski EY, Schuetz JD, Galpin AJ, et al. (1995). "A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase"

activated lymphocytes and regulating lymphocyte homeostasis. Notably, a two-point mutation that occurs at the A1009G and E256G sites can cause a defect in apoptotic

phylogeny of the vertebrate neurohypophysial hormones. Gene duplication and point mutation have produced two distinct lineages, one involved in reproduction (oxytocin-like

Peterlin BM (Aug 2001). "Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome". Molecular and Cellular

a family with inherited pain insensitivity and identified a "novel point mutation in ZFHX2, encoding a putative transcription factor expressed in small

Surprenant A, Horstman DA, Akbarali H, Limbird LE (August 1992). "A point mutation of the alpha 2-adrenoceptor that blocks coupling to potassium but not

NE, Gustavsson B, Westermark K, Westermark B (Dec 1991). "A somatic point mutation in a putative ligand binding domain of the TSH receptor in a patient

Progerin (UniProt# P02545-6) is a truncated version of the lamin A protein involved in the pathology of Hutchinson–Gilford progeria syndrome. Progerin

950–3. PMID 3276402. Hirai H, Kobayashi Y, Mano H, et al. (1987). "A point mutation at codon 13 of the N-ras oncogene in myelodysplastic syndrome". Nature

for studying Duchenne muscular dystrophy (DMD). The mdx mouse has a point mutation in its DMD gene, changing the amino acid coding for a glutamine to STOP

being (-21-20 insTCTGTGAAGCTGGGGAC) on the paternal allele and a 218A→G point mutation occurring on the maternal allele. MDWH is most likely a variant of CHH

insertion in the 3'-untranslated region. The second is a deep-intronic point mutation c.647+2084G>T. This second mutation has only been found to date in the

same primary structure as Pi2 except for a single amino acid caused by point mutation of the seventh amino acid Pro7, which is neutral to Glu7, which is negative

(1997). "X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene". Am. J. Med. Genet. 73 (2): 139–43. doi:10

"Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation". Muscle & Nerve. 40 (4): 648–51. doi:10.1002/mus.21342. PMID 19618438

His discovery was published in Nature in 1982 in an article titled "A point mutation is responsible for the acquisition of transforming properties by the

PMID 1707231. Weimbs T, Dick T, Stoffel W, Boltshauser E (1991). "A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher

small subunits of ribosomal RNA based on the local RNA structure. A point mutation in the ribosome biogenesis factor Nep1 impairs its nucleolar localisation

High Resolution Melt (HRM) analysis is a powerful technique in molecular biology for the detection of mutations, polymorphisms and epigenetic differences

(February 1993). "Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor". Lancet. 341 (8843): 461–2. doi:10

Chronic lactic acidosis Increased serum iron Increased serum pyruvate A point mutation in the BCS1L gene found on chromosome 2 has been determined to be the

Shoubridge EA (November 1996). "A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates

R, Tzall S, Ellenbogen A, Orkin SH (Feb 1989). "Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated

A8V is point mutation on Troponin C (cTNC) that leads to a hypertrophic cardiomyopathy. The coordinated cardiac muscle contraction is regulated by the

In 1993 the Diego pair of antigens was found to result from a single point mutation (nucleotide 2561) on what is now called the SLC4A1 gene on chromosome

PMID 2174914. Sone T, Marx SJ, Liberman UA, Pike JW (1991). "A unique point mutation in the human vitamin D receptor chromosomal gene confers hereditary

mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene". Neuromuscular Disorders. 8 (5): 291–5. doi:10

amplification and point mutation 2% MAML2 amplification and point mutation 4% MAML3 amplification 2% MLH1 1% NF1 deletion (8%) and point mutation (4%) high-grade

infant death. Approximately 90% of cases of MCAD are due to a single point mutation where the lysine at position 304 (Lys304) is replaced by a glutamate

high copy number is a result of the lack of the rop gene and a single point mutation in the ori of pMB1. The lacZ fragment, whose synthesis can be induced

Moorhouse AJ, Chandra M, et al. (2006). "A single P-loop glutamate point mutation to either lysine or arginine switches the cation-anion selectivity of

Wisselaar HA, Oostra BA, Reuser AJ (September 1991). "Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis

disease and Remnant removal disease Familial dysbetalipoproteinemia is caused by this point mutation in ApoE Specialty Medical genetics, endocrinology 

phenotypically present in the wild type. Although it is initiated by a point mutation, it occurs as a polyphenism with different numbers of toes. The analysis

change from one amino acid to a different amino acid in a protein due to point mutation in the corresponding DNA sequence. It is caused by nonsynonymous missense

Lupski JR (November 1993). "Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene". Nat. Genet. 5 (3):

an autosomal dominantly inherited disease of the cornea, caused by a point mutation in cryopyrin (also known as NALP3) that in humans is encoded by the

Benson L, Robinson BH (1996). "An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy". Human

PMID 2918924. S2CID 4240409. Reig C, Serra A, Gean E, et al. (1996). "A point mutation in the RDS-peripherin gene in a Spanish family with central areolar

Laurenzi V, Didona B, Bale SJ, Compton JG (December 1995). "Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus"

PMID 9269768. Suzuki K, Hayashi T, Yahagi A, et al. (1998). "Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated

recombinant heteromeric glycine receptors revealed by a pore-lining region point mutation". Recept. Channels. 9 (6): 353–61. doi:10.3109/714041016. PMID 14698963

HH, van Oost BA (October 1993). "Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A". Science. 262 (5133):

Garbarz M, Feo C, Boivin P, Dhermy D, Forget BG (September 1990). "Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis

S2CID 1057532. Lüdecke B, Dworniczak B, Bartholomé K (Jan 1995). "A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome"

"Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA". American Journal of Human Genetics. 63 (1): 29–36.

human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations". Human Molecular Genetics. 3

There is research in both humans and mice to support that a nonsense point mutation in the eighth exon of the MAOA gene is responsible for impulsive aggressiveness

Elsegood KA, Speight P, Scully C, Prime SS (January 1993). "Ras gene point mutation is a rare event in premalignant tissues and malignant cells and tissues

splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12". The Journal of Biological Chemistry. 264 (9): 5155–8

PMID 1301916. Lightfoot T, Joshi R, Nuki G, Snyder FF (Mar 1992). "The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and

PMID 2243121. Garey JR, Hansen JL, Harrison LM, et al. (1989). "A point mutation in the coding region of uroporphyrinogen decarboxylase associated with

Parathyroid Glands of Familial Hypercalcemia with Hypercalciuria and Point Mutation in Calcium Receptor". Journal of Clinical Endocrinology & Metabolism

long arm of human chromosome 4. In 1997, the same team identified a point mutation in the alpha-synuclein gene in the Contursi kindred as well as Greek

Kobayashi S, Tanaka T, Matsuyoshi N, Imamura S (1996). "Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma

Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site". The Journal of Biological Chemistry. 265 (16):

Kucera T, Waltner-Law M, Scott DK, Prasad R, Granner DK (July 2002). "A point mutation of the AF2 transactivation domain of the glucocorticoid receptor disrupts

(2.A.22.4.1) to a fully functional Cl− -dependent form by a single point mutation, D268S. Mutations in TnaT-D268S, in wild type TnaT and in a serotonin

the XK protein (such as through genetic deletion or through a single point mutation within the coding region of the XK gene), leads to marked reduction

Terasaki K, Setoyama M, Kobayashi K, Saheki T, Kanzaki T (2002). "A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita

double stranded break in sequences surrounding the disease-causing point mutation, a dividing cell can use the non-mutated strand as a template to repair

M (August 2001). "Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome". Mol. Cell. Biol. 21

Imajoh-Ohmi S, Kanegasaki S, Matsumoto S (June 1993). "A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic

threonine for isoleucine substitution at position 41. The Sac3I41T point mutation abrogates the protective action of ArPIKfyve on Sac3 half-life. As a

other mutations alter chondrocyte proliferation. One such example, the point mutation G380R located on the fibroblast growth factor receptor 3(FGFR-3) gene

bones during embryonic development, guiding cranial bone development. A point mutation causes constitutive activation of tyrosine in the activation loop, located

Luria D, Brass D, Marek D, Lahat H, Reznik-Wolf H, et al. (Jul 2007). "Point mutation in the HCN4 cardiac ion channel pore affecting synthesis, trafficking

GPIa subunit gene. Different opinions exist on the importance of C - T point mutation at position 807, which is believed to be associated with the risk of

(2014) Biased polyphenism in polydactylous cats carrying a single point mutation: the Hemingway model for of digit novelty. Evolutionary Biology, 41

generates 4 transcript variants in humans. A single gain-of-function point mutation in GTF2I is also found in certain Thymomas. Single nucleotide polymorphism

Itoigawa A, Hayakawa T, Suzuki-Hashido N, Imai H (June 2019). "A natural point mutation in the bitter taste receptor TAS2R16 causes inverse agonism of arbutin

granules in Langerhans cells is associated with a naturally occurring point mutation in the human Langerin gene". The Journal of Investigative Dermatology

S, Matsuhashi S, Yamamoto K, et al. (1995). "Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of

enzyme in acetaldehyde metabolism and has three genotypes. A single point mutation (G → A) at exon 12 of the ALDH2 gene causes a replacement of glutamate

facilitates cellular uptake of mevalonate, and identification of the point mutation responsible for its gain of function". The Journal of Biological Chemistry

PMID 1374633. S2CID 27249036. Berry M, Grosveld F, Dillon N (1992). "A single point mutation is the cause of the Greek form of hereditary persistence of fetal haemoglobin"

PMID 9582436. Burrows NP, Nicholls AC, Richards AJ, et al. (1998). "A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and

RS (Feb 1997). "Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family". American Journal of Medical

(October 1993). "Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor". The Lancet. 341 (8843): 461–462

RC (December 1992). "Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA". Lancet. 340 (8832): 1376–9. doi:10.1016/0140-6736(92)92560-3

Alternative splicing may provide evolutionary flexibility. A single point mutation may cause a given exon to be occasionally excluded or included from

decrease when strand slippage occurs during DNA replication. (Regular point mutation still happens and could be more frequent than slippage.) Their copy

Kazimiera; Lisowska, Elwira; Czerwinski, Marcin (2012). "A single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination

June 2022. Lüdecke B, Dworniczak B, Bartholomé K (January 1995). "A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome"

mutation of the TUBA1A gene induced by N-ethyl-N-nitrosourea. The relevant point mutation resulted in S140G; the site of the mutation participates in the N-site

S2CID 4353948. Collins FS, Metherall JE, Yamakawa M, et al. (1985). "A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence

value as a therapeutic target. Axenfeld–Rieger syndrome patients have a point mutation in PITX2 a regulatory protein of the FOXJ1 gene. PITX2 alongside LEF-1

Miyahara K, Toda K, et al. (May 1997). "CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase

levels of Factor D, and deficiencies in levels of Factor D are rare. A point mutation resulting in the replacement of a serine codon (Ser42 in the unprocessed

Meinsma R, Smit GP, Bakker HD, De Abreu RA, van Gennip AH (1997). "A point mutation in an invariant splice donor site leads to exon skipping in two unrelated

Recent computational analysis revealed pathogenic property of L61P point mutation in CEP63 protein that affected its native structural conformation. CEP63

Rooij F, Beaumont C, Wilson P, Deybach JC, Nordmann Y (August 1989). "A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon

damage caused by sunlight. Sickle Cell anemia is a disease caused by a point mutation. The sequence altered by the mutation eliminates the recognition site

PMID 11160423. Echchakir H, Mami-Chouaib F, Vergnon I, et al. (2001). "A point mutation in the alpha-actinin-4 gene generates an antigenic peptide recognized

Mories MT, San Millan JL, et al. (February 1993). "Thyroglobulin gene point mutation associated with non-endemic simple goitre". Lancet. 341 (8843): 462–464

a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene". Neuromuscular Disorders. 12

Tuneyoshi K, Matsui K, et al. (November 2003). "Identification of a new point mutation in the human molybdenum cofactor sulferase gene that is responsible

techniques involve creating a library of genes, each of which has a point mutation at a different position in the area of interest, sometimes even every

fatal familial insomnia (FFI), a genetic prion disease linked to a point mutation at codon 178 (D178N) in the PRNP coupled with methionine at codon 129

PMID 1902622. S2CID 26499504. King MJ, Avent ND, Mallinson G, Reid ME (1992). "Point mutation in the glycophorin C gene results in the expression of the blood group

mutation at nucleotide 1138 resulting from either a G>A or G>C. This point mutation in the FGFR3 gene causes hydrogen bonds to form between two arginine

"Thyroxine-binding globulin variant (TBG-Kumamoto): identification of a point mutation and genotype analysis of its family". Endocrinol. Jpn. 39 (6): 577–84

encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion". European Journal of Human Genetics. 23 (3): 325–30

Inoue J, Sumiyoshi T, Takano H, Nagai R, Komuro I (June 2002). "Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital

1989). "The molecular basis of muscular dystrophy in the mdx mouse: a point mutation". Science. 244 (4912): 1578–80. Bibcode:1989Sci...244.1578S. doi:10

rate is two orders of magnitude greater than the spontaneous rate of point mutation per nucleotide site in this species. Older (indirect) studies reported

hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics

(September 1997). "Cellular UDP-glucose deficiency caused by a single point mutation in the UDP-glucose pyrophosphorylase gene". The Journal of Biological

JL, Brown MS (Nov 1996). "Sterol resistance in CHO cells traced to point mutation in SREBP cleavage-activating protein". Cell. 87 (3): 415–26. doi:10

Wang, X.; Hemingway, J.; Collins, F. H. (2000). "Identification of a point mutation in the voltage-gated sodium channel gene of Kenyan Anopheles gambiae

There is a high degree of correlation between the position of the point mutation and the phenotype of the disease. Chromosomal rearrangements that generate

straightforward because the mutation involves a single base change (point mutation) that can be detected by genetic testing, which is unaffected by intercurrent

recessive type 18 (SCAR18). A gain of channel function, resulting from a point mutation in mouse GRID2, is associated with the phenotype named 'lurcher', which

results from compound heterozygosity of GLE1F in Major and a missense point mutation in exon 13 (6 cases in 3 families) or a missense mutation in exon 16

ROHHAD Schaaf-Yang syndrome, also known as 'Prader-Willi syndrome due to point mutation' Smith-Magenis syndrome Temple syndrome "Prader-Labhardt-Willi syndrome"

stronger memories, PTSD". ScienceNews. Hu T, Exton JH (Aug 2005). "A point mutation at phenylalanine 663 abolishes protein kinase C alpha's ability to translocate

(December 2022). "Myalgic Becker Muscular Dystrophy Due to an Exon 15 Point Mutation: Case Series and Literature Review". Journal of Clinical Neuromuscular

Annals of Hematology. 88 (2009): 319–324. Premkumar Reddy, E. et al. "A Point Mutation is Responsible for the Acquisition of Transforming Properties by the

clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene". German Journal of Ophthalmology

ROHHAD Schaaf-Yang syndrome, also known as 'Prader-Willi syndrome due to point mutation' Smith-Magenis syndrome Temple syndrome "Prader-Labhardt-Willi syndrome"

Okuno A, Kohn LD, et al. (April 1995). "A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases

PMID 16461381. Chang, Y.-J.; Jin, J.; Nam, H.-Y.; Kim, S.-U. (2005-03-01). "Point mutation of (+)-germacrene A synthase from Ixeris dentata". Biotechnology Letters

This is because each SNP arose in evolutionary history as a single point mutation, and was then passed down on the chromosome surrounded by other, earlier

mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy". Human Molecular Genetics. 6 (13):

humans. Deletions, disruptions by translocation breakpoints and a single point mutation of highly conserved non-coding elements located > 1 Mb from the transcription

Parke JT, Prodan CI; Holland; Beson; Parke; Prodan (2008). "A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome". Journal of

Zhou H, Casasnovas JM (May 1995). "Introduction of a loss-of-function point mutation from the SH3 region of the Caenorhabditis elegans sem-5 gene activates

IIA topoisomerases. In addition, drug-resistant bacteria often have a point mutation in gyrase (Serine79Alanine in E. coli) that renders quinolones ineffective

an avian plumage polymorphism in the wild: a melanocortin-1-receptor point mutation is perfectly associated with the melanic plumage morph of the bananaquit

Kucera T, Waltner-Law M, Scott DK, Prasad R, Granner DK (Jul 2002). "A point mutation of the AF2 transactivation domain of the glucocorticoid receptor disrupts

2020. Reddy EP, Reynolds RK, Santos E, Barbacid M (November 1982). "A point mutation is responsible for the acquisition of transforming properties by the

disease. Approximately 40 mutations in the GBE1 gene, most resulting in a point mutation in the glycogen branching enzyme, have led to the early childhood disorder

PMC 204858. PMID 8320241. Cockerill, FR (1995). "Rapid identification of a point mutation of the Mycobacterium tuberculosis catalase-peroxidase (katG) gene associated

GB. 2014. Biased polyphenism in polydactylous cats carrying a single point mutation: The Hemingway model for digit novelty. Evol Biol 41:262–275. doi:10

incubation temperature to ≤ 26 °C. The identification of a specific point mutation in the BvgS gene which locks B. bronchiseptica in an intermediate Bvg

associated with relics of a genome-defense system called RIP (repeat-induced point mutation) and silences gene expression by inhibiting transcription elongation

sarcomas, gliomas, lymphomas and tumors of the mammary gland. One specific point mutation of CDK4 (R24C) was first identified in melanoma patients. This mutation

their intracellular domain, usually only one is catalytically active. A point mutation study suggests that only the first phosphatase domain of PCP-2 is catalytically

(December 2017). "A novel human pain insensitivity disorder caused by a point mutation in ZFHX2" (PDF). Brain. 141 (2): 365–376. doi:10.1093/brain/awx326.

and colleagues engineered transgenic mice that express CaMKII with a point mutation of Thr-286 to aspartate, which mimics autophosphorylation and increases

monooxygenases are involved in the amygdalin biosynthetic pathway. A point mutation in a bHLH transcription factor prevents transcription of the two cytochrome

no longer has the ability to catalyze the isomerization to GAP. The point mutation does not affect the catalysis rate, but rather, affects the assembly

"Molecular genetic analysis of an endotoxin nonresponder mutant cell line: a point mutation in a conserved region of MD-2 abolishes endotoxin-induced signaling"

characterized by a lower density of sweat glands. A derived G-allele point mutation (SNP) with pleiotropic effects in EDAR, 370A or rs3827760, is found

energy of the folded protein state can be determined by performing a point-mutation, altering and, consequently, breaking the salt bridge. For example,

adenosine at the site corresponding to the editing site in alpha subunit 3. Point mutation experiments determined that a Cytidine 15 nucleotides from the editing

doi:10.1016/j.cub.2016.01.028. PMC 4819516. PMID 26923783."Applying a point mutation rate of 0.76 × 10−9 per site per year inferred from the number of missing

M. bovis lacks pyruvate kinase activity, due to pykA containing a point mutation that affects binding of Mg2+ cofactor. Pyruvate kinase catalyses the

Peterlin BM (Aug 2001). "Analysis of ankyrin repeats reveals how a single point mutation in RFXANK results in bare lymphocyte syndrome". Molecular and Cellular

polymorphism in the opsin gene might have arisen independently through point mutation on one or more occasions, and that the spectral tuning similarities

stress. The inactivating ALDH2*2 mutation is "the most common single point mutation in humans". This mutation is found in very few White people, but about

fusidic acid, there is a low genetic barrier to drug resistance (a single point mutation is all that is required), fusidic acid should never be used on its own

"Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA". American Journal of Human Genetics. 63 (1): 29–36.

disease and ulcerative colitis. High levels of CRP has been associated to point mutation Cys130Arg in the APOE gene, coding for apolipoprotein E, establishing

possibility in individuals with the p.Arg561Cys mutation which results from a point mutation on the PDGFRB gene. TKIs such as imatinib pose less potential toxicities

Ffrench-Constant RH, Rocheleau TA, Steichen JC, Chalmers AE (June 1993). "A point mutation in a Drosophila GABA receptor confers insecticide resistance". Nature

maternally inherited diabetes and deafness (MIDD). In particular, a point mutation in a mitochondrial tRNA seems to prevent the pseudouridylation of one

sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female". The Journal of Clinical

Hahn LB, Cowley GS, Yandell DW, Sandberg MA, Berson EL (1990). "A point mutation of the rhodopsin gene in one form of retinitis pigmentosa". Nature.

SNP in the BDNF gene. A common SNP in the BDNF gene is rs6265. This point mutation in the coding sequence, a guanine to adenine switch at position 196

translocations. In the hereditary case, the mother transferred the EHMT1 point mutation on to her child as she was a carrier of this gene defect. According

Pellegrini N, Urtizberea JA, Guicheney P (Apr 2006). "A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related

Bantam Books. ISBN 978-0-593-04148-2. The authors demonstrated a single point mutation in the PPOX gene but not one that has been associated with disease.

DH5 strain with the Hanahan method. The recA1 mutation is a single point mutation that replaces glycine 160 of the recA polypeptide with an aspartic acid

RB, Zhang B (April 2007). "Modification of a hydrophobic layer by a point mutation in syntaxin 1A regulates the rate of synaptic vesicle fusion". PLOS

Holland, N. R.; Beson, B.; Parke, J. T.; Prodan, C. I. (2008). "A novel point mutation in the PMP22 gene in a family with Roussy-Levy syndrome". Journal of

magnification β-catenin (aberrant nuclear expression) p120 (cytoplasmic stain) Point mutation in exon 3 of β-catenin gene Adenosquamous carcinoma 1% to 4% Combination

similarity to HOIL-1 and is important for LUBAC stability. Spontaneous point mutation in the Sharpin gene in mice leads to development of chronic proliferative

the receptor-ligand complex. e.g. "JD" mutant results from a single point mutation in the NPVY domain (C-terminal, cytosolic; C residue converted to a

(2018-02-01). "A novel human pain insensitivity disorder caused by a point mutation in ZFHX2". Brain. 141 (2): 365–376. doi:10.1093/brain/awx326. ISSN 0006-8950

"Activation of phosphoinositide 3-kinase by interaction with Ras and by point mutation". The EMBO Journal. 15 (10): 2442–51. doi:10.1002/j.1460-2075.1996.tb00602

germline mutation with one mutated allele (no somatic SPRED1 single-point mutation or loss of heterozygosity was found). The M4/M5 phenotype of AML are

Skaletsky H, Birren B, et al. (1999). "An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y". Nat. Genet. 23 (4): 429–32. doi:10

encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion". European Journal of Human Genetics. 23 (3): 325–30

1021/ja020762p. PMID 12296728. Chang YJ, Jin J, Nam HY, Kim SU (2005). "Point mutation of (+)-germacrene A synthase from Ixeris dentata". Biotechnol. Lett

Powell SJ, Summers C, Kalsheker N, et al. (April 1989). "Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)". Nucleic

occur, as these strains are derived from normal bacteria. One such point mutation D92E is in an enzyme yqiD/ispA (P54383) involved in the mevalonate pathway

coworkers developed a set of substitution matrices called the PAM (Accepted Point Mutation), MDM (Mutation Data Matrix), or Dayhoff Matrix. They are derived from

(1992). "Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene". J. Clin. Invest

infection due to the lack of a successful type I interferon response. Point mutation of serine-358 dampens STING-IFN activation in bats and is suggested

lower levels of PtdIns(3,5)P2 and PtdIns(5)P. A spontaneous mouse VAC14-point mutation (with arginine substitution of leucine156) is associated with reduced

PMID 8227091. Funk CD, Furci L, Moran N, Fitzgerald GA (1994). "Point mutation in the seventh hydrophobic domain of the human thromboxane A2 receptor

occur, as these strains are derived from normal bacteria. One such point mutation D92E is in an enzyme yqiD/ispA (P54383) involved in the mevalonate pathway

mathematical model to simulate the rate of evolution of proteins by point mutation, which he states supports irreducible complexity, based on the calculation

generally signifies termination of a peptide through a stop codon. In point mutation experiments with Deiodinase 1 changing UGA to the stop codon TAA resulted

coworkers developed a set of substitution matrices called the PAM (Accepted Point Mutation), MDM (Mutation Data Matrix), or Dayhoff Matrix. They are derived from

Kucera T, Waltner-Law M, Scott DK, Prasad R, Granner DK (July 2002). "A point mutation of the AF2 transactivation domain of the glucocorticoid receptor disrupts

infection due to the lack of a successful type I interferon response. Point mutation of serine-358 dampens STING-IFN activation in bats and is suggested

the median line, sensory hearing loss and dystonia. It is caused by a point mutation in which the amino acid tryptophan replaces arginine in position 183

Fallang; I. Denholm; T. E. Horsberg; M. S. Williamson (2005). "Novel point mutation in the sodium channel gene of pyrethroid-resistant sea lice Lepeophtheirus

GFP have been engineered. The first major improvement was a single point mutation (S65T) reported in 1995 in Nature by Roger Tsien. This mutation dramatically

S2CID 12156307. Board P, Coggan M, Miloszewski K (1992). "Identification of a point mutation in factor XIII A subunit deficiency". Blood. 80 (4): 937–41. doi:10

which functions as a chloride channel in pulmonary tissues. ΔF508 point mutation in CFTR protein interferes with maturation of the protein has been found

point mutation near a gene may also create an alternative RNA splice site, resulting in a different transcript. By now, research has shown this point

accessory subunit binds DNA and is required for processivity of Pol γ. Point mutation A467T in the linker region is responsible for more than one-third of

PMID 7993212. Fuchs S, Xu SY, Caballero M, et al. (1994). "A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with

The development of diabetes in AKITA mice is caused by a spontaneous point mutation in the Ins2 gene, which is responsible for the correct composition of

intestinal polyposis. This condition has been recently characterized by a point mutation in exon 1B of APC gene. Sporadic FGPs have been associated with: chronic

MS (Feb 1995). "Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha

DL, Healy AM, Hancock WW, Rayburn H, et al. (May 1998). "A targeted point mutation in thrombomodulin generates viable mice with a prethrombotic state"

Möller C, Marí F, Forssmann WG, Tytgat J (December 2012). "A natural point mutation changes both target selectivity and mechanism of action of sea anemone

mediated by its nuclease activity per se, since Exo1-DA mice harboring a point mutation in Exo1's nuclease domain have no detectable meoitic defects. Exonuclease

PMC 4167681. PMID 1370343. Cuevas JM, Duffy S, Sanjuán R (October 2009). "Point mutation rate of bacteriophage PhiX174". Genetics. 183 (2): 747–9. doi:10.1534/genetics

García-Berrocal, J. R.; Verdaguer, J. M.; Vilches, C. (January 2006). "Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome"

get protection,' Dr. Cardona said. 'In humans, you can get a single point mutation, and a vaccine that's 99.99 percent related won't protect you.' And

Kondrashin A, Nesterova M, Merlo G, Clair T, Cho-Chung YS (Nov 1995). "Point mutation of the autophosphorylation site or in the nuclear location signal causes

position 507 resulted in a nonsense mutation. A nonsense mutation is a point mutation that results in a premature stop codon. Five affected families contained

extrusion) family and functions by a Na+ antiporter. It is also known that a point mutation upstream of the norM gene will causes overexpression of NorM, and mediate

genealogical tree with 11 lineages. Each genetic marker represents a single-point mutation (SNP) at a specific place in the genome. First, genetic evidence suggests

1093/hmg/5.12.1899. PMID 8968741. Villard L, Lacombe D, Fontés M (1997). "A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia"

inability to produce or synthesize pteridine (red) pigments, due to a point mutation on chromosome II. m: miniature- One of the first records of the miniature

sub-types RAR-alpha and RAR-gamma. Several variations of the single point mutation have been identified, with mutation c.1159C>T (p.R387C) being most prominent

HH, van Oost BA (October 1993). "Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A". Science. 262 (5133):

Example of alanine scanning. The native protein (top row) and each possible point mutation to alanine is considered.

PMID 2209618. Rafi MA, Zhang XL, DeGala G, Wenger DA (1990). "Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant

associated with the position Xq28 is Bornholm Eye Disease (BED). The point mutation W177R is a missense mutation that causes cone dystrophy when present

seizures. Some of these, such as bss1 and bss2 can be caused by a single point mutation in the paralytic gene which makes the channel less able to inactivate

(2022-02-01). "One-shot high-resolution melting curve analysis for KRAS point-mutation discrimination on a digital microfluidics platform". Lab on a Chip.

associated with the position Xq28 is Bornholm Eye Disease (BED). The point mutation W177R is a missense mutation that causes cone dystrophy when present

PMID 2209618. Rafi MA, Zhang XL, DeGala G, Wenger DA (1990). "Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant

seizures. Some of these, such as bss1 and bss2 can be caused by a single point mutation in the paralytic gene which makes the channel less able to inactivate

Archived from the original on May 27, 2023. Retrieved 2023-10-21. "A point mutation which involves change A → G, C → T, C → G and T → A in DNA are". Toppr

nucleotides upstream from the transcription initiation site. Deletion or point mutation of either motif abolished the enhancer activity. It became active in

Bed’hom, B., Gourichon, D., Tixier-Boichard, M., Burke, T. 2008 A single point mutation within the melanophilin gene causes the lavender plumage colour dilution

Lennon DP, Caplan AI, Shurin SB, Plow EF, Byzova TV (March 2009). "A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans"

(2014). "Biased polyphenism in polydactylous cats carrying a single point mutation: the hemingway model for digit novelty". Evol Biol. 41 (2): 262–275

c.1360C>T, CYP21A2*19); p.P30L (rs9378251, c.92C>T, CYP21A2*8). A point mutation in exon 7 of CYP21A2, (p.V281L), is commonly found in LOCAH-associated

to inheriting two mutated copies of the HBB gene due to a base pair point mutation, their red blood cells are shaped differently. This altered shape results

Hahn LB, Cowley GS, Yandell DW, Sandberg MA, Berson EL (1990). "A point mutation of the rhodopsin gene in one form of retinitis pigmentosa". Nature.

Sukenik-Halevy R, Douben H, Nguyen P, Venter DJ, et al. (November 2018). "A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and

between KDEL receptor and dilated cardiomyopathy, transgenic mice with a point mutation (D193N) were made. The mice expressing the transport mutant D193N gene

10, 2020, 'Sam Jam' on March 4, 2021, '1991' on April 15, 2021, and 'Point Mutation' on June 15, 2021. According to Randall Colburn, writing for AV Club

Brown MS (November 1996). "Sterol resistance in CHO cells traced to point mutation in SREBP cleavage-activating protein". Cell. 87 (3): 415–26. doi:10

pacemaker. Drosophila with mutated Cry exhibit little to no mRNA cycling. A point mutation in cryb, which is required for flavin association in CRY protein, results

region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity". Proceedings of the

Eichel-Streiber C et al (1997) Cellular UDP-glucose deficiency caused by a single point mutation in the UDP-glucose pyrophosphorylase gene. J Biol Chem 272:23784–23791;

PMC 1135783. PMID 7626035. Hayette S, Morle L, Bozon M, et al. (1995). "A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary

Schwenger B, Schöber S, Simon D (April 1993). "DUMPS cattle carry a point mutation in the uridine monophosphate synthase gene". Genomics. 16 (1): 241–4

Murine leukemia provirus is present near the first exon combined with a point mutation, which introduces a stop codon in exon 7. In addition to the rd1 mouse

Blancher A. A novel cis AB allele derived from a B allele through a single point mutation. Transfusion. 2002 Feb;42(2):239-46. Salmon C, Lopez M, Liberge G, Gerbal

S2CID 82947750. As a result of this process, known as repeat-induced point mutation (RIP), the wild-type Neurospora genome contains a small fraction of

Jenkins, N-Memphis, or Kenwood mutation, the N-Baltimore mutation is a point mutation in which a glycine codon is replaced with an adenosine codon. The N-Baltimore

Boelens R (August 2015). "The Cerebro-oculo-facio-skeletal Syndrome Point Mutation F231L in the ERCC1 DNA Repair Protein Causes Dissociation of the ERCC1-XPF

particularly important for APOBEC3G interactions with Vif because a D128K point mutation prevents Vif-dependent depletion of APOBEC3G. Additionally, amino acids

Ken; Duprex, W. Paul; Rima, Bertus K.; Horvath, Curt M. (2009). "A Point Mutation, E95D, in the Mumps Virus V Protein Disengages STAT3 Targeting from

syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L". American Journal of Human Genetics. 71 (4): 863–76. doi:10

particular, the Halothane gene, HAL, induces PSS in swine. It is a single point mutation in this gene that causes abnormal calcium channels within the muscle

(CD2+, sCD3−, CD7+, CD8+, CD56+ and HLA-DR+) and they carry the same point mutation in exon 7 of the TP53 (p53) gene with the difference that they lack

Spivak-Kroizman T, Mohammadi M, Hu P, Jaye M, Schlessinger J, Lax I (May 1994). "Point mutation in the fibroblast growth factor receptor eliminates phosphatidylinositol

(1996). "Diversity of phenotypic expression of patients with Melas 3243 point mutation". University of Sydney Library. Retrieved 8 April 2022. "Professor Carolyn

83-95 Aguado, E. et al., « Induction of T helper type 2 immunity by a point mutation in the LAT adaptor », Science, 296, 2002, p. 2036-2040 Liang, Y. et

formation of the product is dependent on the enzyme-substrate activity. The point mutation that resulted into the variants, Ser271Ala and Ile54Val, for Cl-muconating

correlates with a decrease in TG levels. The authors believe that this point mutation is a major modulator of TG values in this population. In humans, plasma

Although Par-4 mutations are rare, it was identified that an A to T point mutation affecting residue 189 localized in exon 3 causes premature termination

Powell SJ, Summers C, Kalsheker N, et al. (April 1989). "Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)". Nucleic

R, et al. (August 2015). "The Cerebro-oculo-facio-skeletal Syndrome Point Mutation F231L in the ERCC1 DNA Repair Protein Causes Dissociation of the ERCC1-XPF

MT, Takeshita M, Uziel G, Fedrizzi E, Borgese N (Aug 1995). "A novel point mutation in a 3' splice site of the NADH-cytochrome b5 reductase gene results

lamin A. Specifically, most HGPS are caused by a dominant, de novo, point mutation p.G608G (GGC > GGT). This mutation causes a splice site within exon

doi:10.1016/j.cub.2016.01.028. PMC 4819516. PMID 26923783."Applying a point mutation rate of 0.76 × 10−9 per site per year inferred from the number of missing

driving these changes in the period seem different. It was found that the point mutation resulting in the tau mutant decreased the activity of the CKIε kinase

mutations. The LNCaP prostate cancer cell line expresses AR with a T877A point mutation that causes proliferation in the presence of the antiandrogens hydroxyflutamide

efficiency and fewer INDEL byproducts if the desired edit is a transition point mutation and a PAM sequence exists roughly 15 bases from the target site. However

Spivak-Kroizman T, Mohammadi M, Hu P, Jaye M, Schlessinger J, Lax I (May 1994). "Point mutation in the fibroblast growth factor receptor eliminates phosphatidylinositol

deficiency is also extremely rare, affecting an estimated 1 in 1,000,000. A point mutation in the gene encoding factor V can lead to a hypercoagulability disorder

have implications for human speech. Individuals heterozygous for a point mutation in FOXP2 manifest a speech disorder. Because of similar expression patterns

PMID 7537970. Huang XZ, Chen A, Agrez M, Sheppard D (August 1995). "A point mutation in the integrin beta 6 subunit abolishes both alpha v beta 6 binding

post-harvest treatment. TBZ resistance in H. solani resulted from a point mutation of a single base at codon 198 from glutamic acid to glutamine, or alanine

reduce the risk of severe disease. Hemoglobin E is due to a single point mutation in the gene for the beta chain with a glutamate-to-lysine substitution

H, Hagiwara K, Maru Y, Omine M, Mizoguchi H, Nishida J, Takaku F: A point mutation at codon 13 of the N-ras oncogene in myelodysplastic syndrome" Nature

Snutch, T.P., O'Brien, T.J., 2009. A Cav3.2 T-Type Calcium Channel Point Mutation Has Splice-Variant-Specific Effects on Function and Segregates with

anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure

orthotopic xenotransplant breast cancer model, the in vivo importance of the point mutation D426A (in the position 426, there is a change of an aspartic acid to

Transfer for Atom Transfer Radical Polymerization in Detection of DNA Point Mutation". Analytical Chemistry. 81 (11): 4536–4542. doi:10.1021/ac900401m. ISSN 0003-2700

activity, even if present as single heterozygous. One example is a point mutation in exon 7 of CYP21A2, (p.V281L), which is commonly found in LOCAH-associated

Lithuania. The Z17 SNP, which defines the R-Z17 haplogroup, is a type of point mutation occurring at a specific position on the Y chromosome. This change is

Stewart T.; Gicquel, Brigitte; Gopaul, Deshmukh N. (2008-02-15). "A Point Mutation in the Two-Component Regulator PhoP-PhoR Accounts for the Absence of

that distinguish E. coli from Salmonella enterica can be attributed to point mutation. On the contrary, evidence suggests that horizontal gene transfer has

van Oost, B. A. (1993-10-22). "Abnormal Behavior Associated with a Point Mutation in the Structural Gene for Monoamine Oxidase A". Science. 262 (5133):

fitness peak in a biological fitness landscapes specified by the NK-model/Point-mutation with K ≥ 2 was proven to be PLS-complete via a tight PLS-reduction from

inch per second are demonstrated by Rice University. 17 November A point mutation in a gene of the serotonin 2B receptor is linked to impulsive behaviour

transported into the mitochondria. So it follows that, while an mtDNA point mutation are inherited through the mother, defects in nuclear DNA, even those

Martínez, Vicente; Rubio, Francisco (2 September 2014). "The F130S point mutation in the Arabidopsis high-affinity K+ transporter AtHAK5 increases K+

sequencing systems that can have their conductive properties tuned by point mutation. Owing to its binding affinity for sphingomyelin, lysenin (or just the

specifically fat and muscle production. Viles in particular had a point mutation within the lamin gene, where a cytosine nucleotide was replaced with

diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation". Diabetic Medicine. 25 (4): 383–399. doi:10.1111/J.1464-5491.2008.02359

(2014). "Biased Polyphenism in Polydactylous Cats Carrying a Single Point Mutation: The Hemingway Model for Digit Novelty". Evolutionary Biology. 41 (2):

opposed to a T during reverse transcription, effectively inducing a point mutation at the 4SU crosslinking site. The short fragments are subjected to library

to the Glra1 gene, coding for a glycine receptor subunit, and this point mutation decreases the glycine receptor function. Much of Buckwalter's postdoctoral

gefitinib in vitro and in vivo and acquires resistance through a novel point mutation in the HER2/neu". Cancer Research. 67 (14): 6825–6843. doi:10.1158/0008-5472

of the FOXP2 gene is identical to that in Neanderthals, there is one point mutation in the regulatory part thereof (modern humans having a T where Neanderthals

produces β-subunits of hemoglobin and is present on human chromosome 11. A point mutation in the first base of the 121 codon that normally has GAA sequence for

equally likely to happen. For example, a transition, which is a type of point mutation from one purine to another, or from one pyrimidine to another is much

for stop codon mutations, but none were found. This indicates that point mutation is not a frequent method of inactivation of the SFRP1 gene in colorectal

natives, and their origin was attributed to gene conversion rather than point mutation. This discovery resulted in the formulation of the allele turnover hypothesis

patient with aggressive natural killer cell leukemia carrying a p53 point mutation". Leukemia. 14 (5): 922–30. doi:10.1038/sj.leu.2401769. PMID 10803526

mathematical model for the prediction of change in aggregation rate upon point mutation". Bioinformatics. 36 (5): 1439–1444. doi:10.1093/bioinformatics/btz764

6425, eaau1043, 25 January 2019 A Helgason et al., "The Y chromosome point mutation rate in humans," Nature Genetics, (subscription required), volume 47

disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation (Concept Id: C4225274) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved

of Bowen-Conradi syndrome by demonstrating that the disease-causing point mutation of the ribosome biogenesis factor Nep1 impairs its nucleolar localisation

"Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome". Whitcomb, D. C.; Preston, R. A

Rajesh R.; Patel, Keyur P. (eds.), "A Targeted Q-PCR-Based Method for Point Mutation Testing by Analyzing Circulating DNA for Cancer Management Care", Clinical

mouse CLOCK gene, in situ cloning and DNA sequencing was performed. A point mutation that changes a triplet codon to a premature stop codon. Allada et al

disease severity where the subject with a deletion, a duplication, and a point mutation had mild, moderate and severe phenotypes respectively. Their results

A. M. Carothers, G. Urlaub, J. Mucha, D. Grunberger, L. A. Chasin: Point mutation analysis in a mammalian gene: rapid preparation of total RNA, PCR amplification