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searching for Frameshift mutation 79 found (159 total)

SPTB (1,053 words) [view diff] exact match in snippet view article find links to article

Akatsuka J, Iyori H, Horiguchi M (October 1992). "A deletional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin

Spectrin, alpha 1 (1,026 words) [view diff] exact match in snippet view article find links to article

Kanzaki A, Rabodonirina M, Yawata Y, et al. (1992). "A deletional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin

DNAH1 (473 words) [view diff] exact match in snippet view article find links to article

Wang W, Jiao G, Wang W, Hao C, Gao Z (2017). "Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in

Melanocortin 4 receptor (3,164 words) [view diff] exact match in snippet view article find links to article

Aminian S, Halsall DJ, Stanhope RG, O'Rahilly S (October 1998). "A frameshift mutation in MC4R associated with dominantly inherited human obesity". Nature

ESCO2 (861 words) [view diff] exact match in snippet view article find links to article

"Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family". Prenat. Diagn. 28 (1): 42–5. doi:10.1002/pd

Desmoglein-4 (455 words) [view diff] exact match in snippet view article find links to article

et al. (2007). "Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability

Mushroom gene (303 words) [view diff] exact match in snippet view article find links to article

pigment pheomelanin. In 2019 the gene was mapped to the p.Asp201fs frameshift mutation in MFSD12 on equine chromosome 7. MSDF12 (major facilitator superfamily

Sagittal crest (577 words) [view diff] exact match in snippet view article find links to article

2004 by a group of researchers led by Dr. Hansell Stedman, that a frameshift mutation shrank the individual muscle fibers of the temporalis muscle, which

Polycystin 2 (1,206 words) [view diff] exact match in snippet view article find links to article

Mochizuki T, Somlo S, Pierides A, Deltas CC (June 1997). "A translation frameshift mutation induced by a cytosine insertion in the polycystic kidney disease

Poul Kjer (157 words) [view diff] case mismatch in snippet view article find links to article

Poul Kjer, Shomi S Bhattacharya, and Marcela Votruba. 2001. "A Frameshift Mutation in Exon28 of the OPA1 Gene Explains the High Prevalence of Dominant

GJB4 (580 words) [view diff] exact match in snippet view article find links to article

López-Bigas N, Melchionda S, Gasparini P, et al. (2002). "A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment

Jurkat cells (579 words) [view diff] exact match in snippet view article find links to article

HIV proviruses, in which GFP replaces nef coding sequence, and a frameshift mutation in env. Jurkat J6 cells have been found to produce a xenotropic murine

International Grape Genome Program (744 words) [view diff] exact match in snippet view article find links to article

mutations, one leading to an amino acid substitution and the other to a frameshift mutation. Tests showed that either mutation removes the ability of the regulator

GJC2 (714 words) [view diff] exact match in snippet view article find links to article

S2CID 40070741. Wolf NI, Cundall M, Rutland P, et al. (2007). "Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination"

Haplotype convergence (657 words) [view diff] case mismatch in snippet view article find links to article

Cairns, J.; Foster, P. L. (August 1991). "Adaptive Reversion of a Frameshift Mutation in Escherichia Coli". Genetics. 128 (4): 695–701. doi:10.1093/genetics/128

EIF4A3 (1,125 words) [view diff] case mismatch in snippet view article find links to article

"Selective Translational Repression of Truncated Proteins from Frameshift Mutation-Derived mRNAs in Tumors". PLOS Biol. 5 (5): e109. doi:10.1371/journal

MT-ND5 (872 words) [view diff] exact match in snippet view article find links to article

Mundy H, Taylor RW (February 2010). "A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy"

Sp7 transcription factor (2,875 words) [view diff] exact match in snippet view article find links to article

been a recent case of a patient with recessive OI with a documented frameshift mutation in Sp7/Osx as the etiological origin of the disease. This patient

MT-ATP6 (3,097 words) [view diff] exact match in snippet view article find links to article

and intellectual disability have been observed in patients with a frameshift mutation in MT-ATP6. This causes a C insertion at position 8612 that results

ABCF1 (687 words) [view diff] case mismatch in snippet view article find links to article

"Selective Translational Repression of Truncated Proteins from Frameshift Mutation-Derived mRNAs in Tumors". PLOS Biol. 5 (5): e109. doi:10.1371/journal

LPAR2 (1,068 words) [view diff] exact match in snippet view article find links to article

lysophosphatidic acid receptor gene, lp(A2)/Edg4, and identification of a frameshift mutation in a previously characterized cDNA". Genomics. 64 (2): 155–69. doi:10

SEC63 (637 words) [view diff] exact match in snippet view article find links to article

"Selective translational repression of truncated proteins from frameshift mutation-derived mRNAs in tumors". PLOS Biol. 5 (5): e109. doi:10.1371/journal

MT-ATP8 (2,813 words) [view diff] exact match in snippet view article find links to article

and intellectual disability have been observed in patients with a frameshift mutation in MT-ATP6. This causes a C insertion at position 8612 that results

PTCH2 (525 words) [view diff] exact match in snippet view article find links to article

Suzuki M, Hatsuse H, Shiohama T, Uchikawa H, Miyashita T (2013). "Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome"

TAF1B (605 words) [view diff] exact match in snippet view article find links to article

"Selective translational repression of truncated proteins from frameshift mutation-derived mRNAs in tumors". PLOS Biol. 5 (5): e109. doi:10.1371/journal

Protein S deficiency (1,049 words) [view diff] exact match in snippet view article find links to article

van der Meer J (2006). "Identification of a novel PROS1 c.1113T→GG frameshift mutation in a family with mixed type I/type III protein S deficiency". Haematologica

Endothelin 3 (1,004 words) [view diff] exact match in snippet view article find links to article

PMID 8632985. Bolk S, Angrist M, Xie J, et al. (1996). "Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome". Nat. Genet. 13 (4):

HESX1 (1,024 words) [view diff] exact match in snippet view article find links to article

T, Hattorri T, Nakajima T, et al. (2003). "Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined

Lizzie Velásquez (1,557 words) [view diff] exact match in snippet view article find links to article

neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3-prime terminus of the FBN1-gene". Am. J. Med. Genet. 152A

Loricrin (944 words) [view diff] exact match in snippet view article find links to article

molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope"

Dynamin-like 120 kDa protein (2,081 words) [view diff] exact match in snippet view article find links to article

Eiberg H, Kjer B, Kjer P, Bhattacharya SS, Votruba M (Nov 2001). "A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant

Rosselli–Gulienetti syndrome (685 words) [view diff] exact match in snippet view article find links to article

Gustavsson P, et al. (2003). "Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene". J. Med. Genet. 40 (12): 133e–133. doi:10.1136/jmg

Ectodysplasin A (1,239 words) [view diff] exact match in snippet view article find links to article

Yotsumoto S, Takahashi M, Nakamura K, Kanzaki T, Kaneko F (2004). "A frameshift mutation of the ED1 gene in sibling cases with X-linked hypohidrotic ectodermal

16BO133 (829 words) [view diff] exact match in snippet view article find links to article

other SARSr-CoVs, these two viruses have the ORF8 strain due to a frameshift mutation at the end of ORF7b. The similarity of the genome nucleic acid sequence

Ankyrin-1 (1,683 words) [view diff] exact match in snippet view article find links to article

Vallier A, et al. (June 1996). "Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis"

VAC14 (1,108 words) [view diff] exact match in snippet view article find links to article

(May 2003). "Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene". Human Molecular Genetics. 12 (10):

HNF1B (1,254 words) [view diff] exact match in snippet view article find links to article

Hattersley AT (2000). "Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta". Kidney

GDF5 (1,063 words) [view diff] exact match in snippet view article find links to article

PMID 10844590. Faiyaz-Ul-Haque M, Ahmad W, Wahab A, et al. (2003). "Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and

LRSAM1 (1,040 words) [view diff] exact match in snippet view article find links to article

G, Nürnberg P, Zelcer N, Schelhaas HJ, Baas F (January 2012). "A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy"

Set domain containing 1b (375 words) [view diff] exact match in snippet view article find links to article

Oh HR, Choi MR, Gwak M, An CH, Chung YJ, Yoo NJ, Lee SH (2014). "Frameshift mutation of a histone methylation-related gene SETD1B and its regional heterogeneity

SK3 (1,935 words) [view diff] exact match in snippet view article find links to article

(2005). "[Transmission disequilibrium analysis of 1137-1140 Del GTGA frameshift mutation within the KCNN3 gene and schizophrenia based on family trios]".

CD133 (2,294 words) [view diff] exact match in snippet view article find links to article

Reznik-Wolf H, Pras E (August 2009). "Cone-rod dystrophy and a frameshift mutation in the PROM1 gene". Molecular Vision. 15: 1709–16. PMC 2732717. PMID 19718270

FGF14 (879 words) [view diff] exact match in snippet view article find links to article

(2005). "Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias". Eur. J. Hum

Butyrylcholinesterase (2,226 words) [view diff] exact match in snippet view article find links to article

Arpagaus M, Van der Spek AF, et al. (May 1990). "Identification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase

HAND1 (2,187 words) [view diff] exact match in snippet view article find links to article

ventricles, and outflow tract abnormalities. In humans, evidence of a frameshift mutation in the bHLH domain of HAND1 has been correlated with hypoplastic

Protein 4.2 (978 words) [view diff] exact match in snippet view article find links to article

Hayette S, Dhermy D, dos Santos ME, et al. (1995). "A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary

Zinc transporter ZIP12 (2,876 words) [view diff] exact match in snippet view article find links to article

pulmonary vessels and sensitivity to pulmonary hypertension. A ZIP12 frameshift mutation in F344 rats truncates the protein and reduces cellular zinc uptake

Postzygotic mutation (1,634 words) [view diff] exact match in snippet view article find links to article

place themselves between stacked nitrogenous bases in DNA, causing a frameshift mutation. Some intercalating agents, like daunorubicin, are capable of blocking

Marfanoid–progeroid–lipodystrophy syndrome (849 words) [view diff] exact match in snippet view article find links to article

neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene". Am. J. Med. Genet. A. 152A

Chordin-like 1 (1,006 words) [view diff] exact match in snippet view article find links to article

megalocornea (XMC) that results from either a missense, nonsense, or frameshift mutation of the gene. XMC is an enlargement of the anterior segments of the

Twist-related protein 1 (2,365 words) [view diff] exact match in snippet view article find links to article

S2CID 15808193. Kunz J, Hudler M, Fritz B (Aug 1999). "Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome"

Sepiapterin reductase deficiency (1,709 words) [view diff] exact match in snippet view article find links to article

H. A., Dursun, B., Tasan, E., & Tolun, A. (2012). A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in

Fanconi anemia, complementation group C (2,397 words) [view diff] exact match in snippet view article find links to article

PMID 8639804. Lo Ten Foe JR, Rooimans MA, Joenje H, Arwert F (1996). "Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia C gene, FAC". Human Mutation

Deep sea (4,060 words) [view diff] exact match in snippet view article find links to article

gene regulates bone development and tissue mineralization, and the frameshift mutation seems to have resulted in the open skull and cartilage-based bone

Amastia (1,895 words) [view diff] exact match in snippet view article find links to article

responsible for growth factor signalling and Wnt pathway. Homozygous frameshift mutation in PTPRF may cause amastia, which suggests the causative relationship

SBDS (1,580 words) [view diff] exact match in snippet view article find links to article

183–184 (TA→CT) resulting in a premature stop-codon (K62X) and a frameshift mutation at position 258 (2T→C) resulting in a stopcodon (C84fsX3). GRCh38:

DISC1 (4,723 words) [view diff] exact match in snippet view article find links to article

decade. In 2005, an American family was found to also possess a frameshift mutation in the DISC1 gene, which again co-segregated with schizophrenia and

Kathie L. Olsen (1,224 words) [view diff] exact match in snippet view article find links to article

Lubahn, D. B.; Olsen, K. L.; Wilson, E. M.; French, F. S. (1991). "A frameshift mutation destabilizes androgen receptor messenger RNA in the Tfm mouse". Molecular

Kohlschütter–Tönz syndrome (2,147 words) [view diff] exact match in snippet view article find links to article

results in the lack of function of the protein. One family had a frameshift mutation called c.366dupA. This duplication that caused the frameshift resulted

Bloom syndrome (2,759 words) [view diff] exact match in snippet view article find links to article

PMID 16763388. S2CID 27176412. Ben Salah, G; et al. (Nov 2014). "A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE)

Kalirin (3,328 words) [view diff] exact match in snippet view article find links to article

been linked to neurological disease. In autism spectrum disorder, a frameshift mutation was found that is likely to lead to transcript decay, and heterozygosity

Andermann syndrome (1,622 words) [view diff] exact match in snippet view article find links to article

"First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene". American Journal of Medical Genetics

Formylation (2,838 words) [view diff] exact match in snippet view article find links to article

of Leigh Syndrome is believed to alter exon splicing leading to a frameshift mutation and a premature stop codon. Individuals with the MTFMT c.626C>T mutation

Ectrodactyly–ectodermal dysplasia–cleft syndrome (2,617 words) [view diff] exact match in snippet view article find links to article

termination of protein synthesis, known as a nonsense mutation. The frameshift mutation introduces a premature stop codon that affected the α isotope, but

Surfactant metabolism dysfunction (2,443 words) [view diff] exact match in snippet view article find links to article

or 60%-70% of those accounted disease-causing alleles come from a frameshift mutation, called 121ins2, on exon 4 of SFTPB gene, which also accounts for

Tricho–dento–osseous syndrome (2,156 words) [view diff] exact match in snippet view article find links to article

4-basepair deletion in exon 3 of DLX3 on chromosome 17q21, causing a frameshift mutation. DLX3 plays numerous significant roles during osseous, connective

Werner syndrome (4,518 words) [view diff] exact match in snippet view article find links to article

correspond to stop codons, insertions, or deletions that result in a frameshift mutation. These mutations can have a range of effects. They may decrease the

Marfan syndrome (6,889 words) [view diff] exact match in snippet view article find links to article

neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene". American Journal of Medical

Transposable element (7,381 words) [view diff] exact match in snippet view article find links to article

In most cases, this is used to remove a DNA sequence or cause a frameshift mutation. In some cases the insertion of a TE into a gene can disrupt that

Mycoplasma laboratorium (3,650 words) [view diff] exact match in snippet view article find links to article

semi-synthetic constructs were created. The cause of the failure was a single frameshift mutation in DnaA, a replication initiation factor. The purpose of constructing

Elastin-like polypeptides (2,815 words) [view diff] exact match in snippet view article find links to article

as this would lead to loss of crucial nucleotides and a potential frameshift mutation in the protein. ELPs can be synthetically conjugated to poly (ethylene

NAA15 (3,013 words) [view diff] exact match in snippet view article find links to article

parent-offspring trios with congenital heart disease. Patient 1 harbors a frameshift mutation (p. Lys335fs) and displays heterotaxy (dextrocardia, total anomalous

Baiji (6,553 words) [view diff] exact match in snippet view article find links to article

that there are four genes that have lost their function due to a frameshift mutation or premature stop codons. The baiji has the lowest single nucleotide

Ubiquitin (11,029 words) [view diff] exact match in snippet view article find links to article

brain have been associated with increased malformation of APP. A frameshift mutation in ubiquitin B can result in a truncated peptide missing the C-terminal

Marion Buckwalter (2,467 words) [view diff] exact match in snippet view article find links to article

Seubert P, Wyss-Coray T. J Neurosci. 2006; 26 (44): 11437-41 A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive

Dromedary (11,382 words) [view diff] case mismatch in snippet view article find links to article

Cherifi; Gaouar, Semir; Antczak, Douglas; Brooks, Samantha (2017). "A Frameshift Mutation in KIT is Associated with White Spotting in the Arabian Camel". Genes

Cuniculture (6,926 words) [view diff] exact match in snippet view article find links to article

Fontanesi, L.; Scotti, E.; Allain, D.; Dall'Olio, S. (2014). "A frameshift mutation in the melanophilin gene causes the dilute coat color in rabbit (Oryctolagus

Cancer epigenetics (12,533 words) [view diff] exact match in snippet view article find links to article

an increase in deacetylation by SIRT1. Likewise, an inactivating frameshift mutation in HDAC2, a histone deacetylase that acts on many histone-tail lysines

Glossary of cellular and molecular biology (M–Z) (24,559 words) [view diff] exact match in snippet view article

functional proteins, but there are exceptions in a few organisms. A frameshift mutation results in a shift in the normal reading frame and affects all downstream