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searching for Exon skipping 69 found (92 total)

SpliceInfo (99 words) [view diff] exact match in snippet view article find links to article

SpliceInfo is a database for the four major alternative-splicing modes (exon skipping, 5'-alternative splicing, 3'-alternative splicing and intron retention)

Duchenne muscular dystrophy (6,468 words) [view diff] exact match in snippet view article find links to article

cells removed from beta-thalassemia patients Wilton's group tested exon skipping for muscular dystrophy. Researchers are working on a gene editing method

Activated PI3K delta syndrome (858 words) [view diff] no match in snippet view article find links to article

the p110δ catalytic subunit of PI3Kδ, APDS-2 (PASLI-R1) is caused by exon-skipping mutations in PIK3R1 which encodes for the regulatory subunit p85α. APDS

Viltolarsen (900 words) [view diff] no match in snippet view article find links to article

Nakamura A, Takeda S, et al. (June 2009). "Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs". Annals of Neurology. 65 (6): 667–76. doi:10

U7 small nuclear RNA (3,628 words) [view diff] exact match in snippet view article find links to article

and Rev exon skipping". J Gene Med. 9 (5): 323–334. doi:10.1002/jgm.1027. PMID 17474072. S2CID 26072168. Scheuerbrandt G (2006). "Exon skipping with U7

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

(August 1991). "A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin

DBT (gene) (1,081 words) [view diff] exact match in snippet view article

(1991). "Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain

Exonic splicing silencer (856 words) [view diff] exact match in snippet view article find links to article

silencers work by inhibiting the splicing of pre-mRNA strands or promoting exon skipping. The single stranded pre-mRNA molecules need to have their intronic

SYT5 (482 words) [view diff] exact match in snippet view article find links to article

(1999). "Alternative splicing of synaptotagmins involving transmembrane exon skipping". FEBS Lett. 460 (3): 417–22. doi:10.1016/S0014-5793(99)01382-4. PMID 10556508

Aminoacylase 1 deficiency (280 words) [view diff] exact match in snippet view article find links to article

Donati M, Morrone A (2013) Aminoacylase I deficiency due to ACY1 mRNA exon skipping. Clin Genet doi: 10.1111/cge.12297 Sass JO, Mohr V, Olbrich H, Engelke

Minigene (2,427 words) [view diff] case mismatch in snippet view article find links to article

LR; Pérez, B; Ugarte, M (2012). "Minigenes to Confirm Exon Skipping Mutations". Exon Skipping. Methods Mol. Biol. Vol. 867. pp. 37–47. doi:10.1007/978-1-61779-767-5_3

Shapiro–Senapathy algorithm (6,804 words) [view diff] no match in snippet view article find links to article

splicing reaction, resulting in the loss of that exon in the spliced mRNA (exon-skipping). On the other hand, a partial or complete intron could be included

SYT7 (549 words) [view diff] exact match in snippet view article find links to article

1999). "Alternative splicing of synaptotagmins involving transmembrane exon skipping". FEBS Letters. 460 (3): 417–22. doi:10.1016/S0014-5793(99)01382-4.

Primary transcript (3,023 words) [view diff] exact match in snippet view article find links to article

the human estrogen receptor alpha primary transcript: mechanisms of exon skipping" by Paola Ferro, Alessandra Forlani, Marco Muselli and Ulrich Pfeffer

ATP7A (2,865 words) [view diff] exact match in snippet view article find links to article

(1994). "Diverse mutations in patients with Menkes disease often lead to exon skipping". Am. J. Hum. Genet. 55 (5): 883–9. PMC 1918324. PMID 7977350. Chelly

Sialidase-1 (1,234 words) [view diff] exact match in snippet view article find links to article

"Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patient". FEBS

Cyclin-dependent kinase 10 (729 words) [view diff] exact match in snippet view article find links to article

Zelante L, Callen DF, Savoia A (1999). "The PISSLRE gene: structure, exon skipping, and exclusion as tumor suppressor in breast cancer". Genomics. 56 (1):

Exonic splicing enhancer (596 words) [view diff] exact match in snippet view article find links to article

previously thought to be silent mutations located in an ESEs can lead to exon skipping and the production of a non functioning protein. Disruption of an exon

DLST (968 words) [view diff] exact match in snippet view article find links to article

(1991). "Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain

CYP2C18 (1,202 words) [view diff] exact match in snippet view article find links to article

doi:10.1006/abbi.1996.9817. PMID 9028867. Zaphiropoulos PG (June 1997). "Exon skipping and circular RNA formation in transcripts of the human cytochrome P-450

Creolimax fragrantissima (355 words) [view diff] exact match in snippet view article find links to article

complex gene regulation system, including long non-coding RNAs and exon skipping alternative splicing, which were normally associated with multicellular

Aldehyde dehydrogenase 5 family, member A1 (868 words) [view diff] no match in snippet view article find links to article

F, Malaspina P, Novelletto A, Jakobs C, Gibson KM (Aug 1998). "Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase

PHF6 (1,101 words) [view diff] exact match in snippet view article find links to article

Picketts DJ (October 2004). "A novel PHF6 mutation results in enhanced exon skipping and mild Börjeson-Forssman-Lehmann syndrome". Journal of Medical Genetics

SGT-003 (145 words) [view diff] exact match in snippet view article find links to article

gene therapy SGT-001. Bizot, Flavien (20 March 2023). "Optimization of exon skipping therapy for the treatment of Duchenne muscular dystrophy". Université

Aminoacylase (1,837 words) [view diff] exact match in snippet view article find links to article

et al. (October 2013). "Aminoacylase I deficiency due to ACY1 mRNA exon skipping". Clinical Genetics. 86 (4): 367–372. doi:10.1111/cge.12297. PMID 24117009

Retinal G protein coupled receptor (1,534 words) [view diff] no match in snippet view article find links to article

Kochounian H, Moore RE, Lee TD, Rao N, Fong HK (2007). "Deposition of exon-skipping splice isoform of human retinal G protein-coupled receptor from retinal

Spectrin, alpha 1 (1,041 words) [view diff] exact match in snippet view article find links to article

hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation". J. Clin. Invest. 88 (1): 76–81. doi:10

Missense mRNA (1,009 words) [view diff] exact match in snippet view article find links to article

major urinary protein, while both types of mutations can facilitate exon skipping". Molecular and Cellular Biology. 14 (9): 6326–36. doi:10.1128/mcb.14

Purine nucleoside phosphorylase (1,511 words) [view diff] exact match in snippet view article find links to article

763–72. PMC 1682776. PMID 1384322. Andrews LG, Markert ML (Apr 1992). "Exon skipping in purine nucleoside phosphorylase mRNA processing leading to severe

Dihydropyrimidine dehydrogenase (NADP+) (1,222 words) [view diff] exact match in snippet view article

(1997). "A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase

ATP5C1 (854 words) [view diff] exact match in snippet view article find links to article

N, et al. (2007). "Tissue-specific splicing regulator Fox-1 induces exon skipping by interfering E complex formation on the downstream intron of human

Porphobilinogen deaminase (1,617 words) [view diff] exact match in snippet view article find links to article

G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria". Nucleic Acids

Tibetan spaniel (1,577 words) [view diff] no match in snippet view article find links to article

S. (2014-04-04). "An Intronic SINE Insertion in FAM161A that Causes Exon-Skipping Is Associated with Progressive Retinal Atrophy in Tibetan Spaniels and

TSHB (1,037 words) [view diff] exact match in snippet view article find links to article

Aumann U, et al. (2002). "Congenital secondary hypothyroidism caused by exon skipping due to a homozygous donor splice site mutation in the TSHbeta-subunit

RBM9 (920 words) [view diff] exact match in snippet view article find links to article

splicing by binding in introns either downstream (inclusion) or upstream (exon skipping) of exons. Its presence is important for stem cell survival and knockdowns

CSDE1 (877 words) [view diff] exact match in snippet view article find links to article

721–30. PMID 2052355. Boussadia O, Jacquemin-Sablon H, Dautry F (1993). "Exon skipping in the expression of the gene immediately upstream of N-ras (unr/NRU)"

Ferrochelatase (2,000 words) [view diff] exact match in snippet view article find links to article

erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing". Biochimica et Biophysica Acta (BBA) - Molecular

MicroRNA 499a (687 words) [view diff] exact match in snippet view article find links to article

"Uncoupling of expression of an intronic microRNA and its myosin host gene by exon skipping". Mol. Cell. Biol. 30 (8): 1937–45. doi:10.1128/MCB.01370-09. PMC 2849460

Reeler (1,459 words) [view diff] exact match in snippet view article find links to article

isolated from a chlorambucil screen, is due to an IAP insertion with exon skipping". Genomics. 42 (3): 479–82. doi:10.1006/geno.1997.4772. PMID 9205121

Calpastatin (1,016 words) [view diff] exact match in snippet view article find links to article

"Molecular diversity in amino-terminal domains of human calpastatin by exon skipping". J. Biol. Chem. 267 (12): 8437–42. doi:10.1016/S0021-9258(18)42463-5

FANCM (1,796 words) [view diff] exact match in snippet view article find links to article

(September 2015). "FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor"

Interferon-alpha/beta receptor (2,617 words) [view diff] exact match in snippet view article find links to article

IFNAR2 is expressed as three isoforms due to alternative splicing, exon skipping, and multiple polyadenylation sites; IFNAR2a (a soluble form lacking

De novo transcriptome assembly (2,226 words) [view diff] no match in snippet view article find links to article

of non-redundant contigs, and identifies splicing events including exon-skipping, novel exons, retained introns, novel introns, and alternative splicing

CHD2 (1,703 words) [view diff] exact match in snippet view article find links to article

Huse K, Platzer M, Backofen R (2005). "Non-EST based prediction of exon skipping and intron retention events using Pfam information". Nucleic Acids Research

GYPB (3,580 words) [view diff] exact match in snippet view article find links to article

3369.3369. PMID 8193374. Huang CH, Reid ME, Blumenfeld OO (1993). "Exon skipping caused by DNA recombination that introduces a defective donor splice

Limb–girdle muscular dystrophy (2,787 words) [view diff] no match in snippet view article find links to article

disorders) have increased interest in researchers, with CRISPR/Cas9 and exon-skipping helping these therapeutic goals along. Limb–girdle muscular dystrophies

PLA2G6 (1,831 words) [view diff] no match in snippet view article find links to article

active isoforms of group VI phospholipase A2 (iPLA2) that arise from an exon-skipping mechanism of alternative splicing of the transcript from the iPLA2 gene

Silent mutation (3,318 words) [view diff] exact match in snippet view article find links to article

2001). "A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family". Journal of Medical Genetics. 38 (12): 863–7. doi:10

Roan (horse) (3,592 words) [view diff] exact match in snippet view article

69. ISBN 0-8138-0759-X. Brooks, Samantha A.; Bailey, Ernest (2005). "Exon skipping in the KIT gene causes a Sabino spotting pattern in horses". Mammalian

Intron (5,770 words) [view diff] exact match in snippet view article find links to article

Chen YY, Malecki M, Codlin S, Lemay JF, Cotobal C (2015). "Widespread exon skipping triggers degradation by nuclear RNA surveillance in fission yeast".

Frameshift mutation (4,722 words) [view diff] exact match in snippet view article find links to article

turn removes it from the sequence. Antisense-oligonucleotide mediated exon skipping is another possibility for Duchenne muscular dystrophy. This process

Serine/arginine-rich splicing factor 1 (2,574 words) [view diff] exact match in snippet view article find links to article

itself. ASF/SF2 is also implicated in cellular mechanisms to hinder exon skipping and to ensure splicing is occurring accurately and correctly. ASF/SF2

Titin (4,671 words) [view diff] no match in snippet view article find links to article

Cazorla O, Fougerousse F, Centner T, et al. (June 2000). "Series of exon-skipping events in the elastic spring region of titin as the structural basis

Pili torti (4,454 words) [view diff] case mismatch in snippet view article find links to article

"A C2055T Transition in Exon 8 of the ATP7A Gene Is Associated with Exon Skipping in an Occipital Horn Syndrome Family". The American Journal of Human

Succinic semialdehyde dehydrogenase deficiency (3,995 words) [view diff] no match in snippet view article find links to article

Malaspina, P.; Novelletto, A.; Jakobs, C.; Gibson, K. M. (1998). "Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase

Morpholino (4,376 words) [view diff] exact match in snippet view article find links to article

Ryan M, Fletcher S, Wilton SD (October 2006). "Induced dystrophin exon skipping in human muscle explants". Neuromuscular Disorders. 16 (9–10): 583–90

Alberto Kornblihtt (2,229 words) [view diff] case mismatch in snippet view article find links to article

Alberto (2014). "How Slow RNA Polymerase II Elongation Favors Alternative Exon Skipping". Molecular Cell. 54 (4): 683–690. doi:10.1016/j.molcel.2014.03.044

Sabino horse (5,050 words) [view diff] exact match in snippet view article find links to article

Retrieved April 2, 2007. Brooks, Samantha; Ernest Bailey (2005). "Exon skipping in the KIT gene causes a sabino spotting pattern in horses". Mammalian

Tuta absoluta (3,273 words) [view diff] no match in snippet view article find links to article

two desensitizing mutations at the same target site: G275E, and an exon-skipping mutation; and perhaps synergistically with other factors.: 1332, T1

Fibrillin-1 (3,707 words) [view diff] exact match in snippet view article find links to article

splice site base changes leading to alternative splicing and in-frame exon skipping or deletion. The combination of the four types of mutations results

SR protein (3,445 words) [view diff] exact match in snippet view article find links to article

Mutations in the ESE sequence of BRCA1 have been linked to irregular exon skipping because SF2/ASF cannot recognize the ESE. Three SR proteins have been

RBFOX1 (3,549 words) [view diff] exact match in snippet view article find links to article

dominant-negative RBFOX protein interfered with exon activation, though not exon skipping. Because of this knowledge, repression maintenance most likely includes

Epilepsy-intellectual disability in females (4,237 words) [view diff] exact match in snippet view article find links to article

mechanism of PCDH19 gene mutations. The proposal also includes using AON exon skipping, which would be the first use of this method in epilepsy. Parallel associations

Cancer treatment (8,478 words) [view diff] exact match in snippet view article find links to article

include morpholino splice switching oligonucleotides, which induce ERG exon skipping in prostate cancer models, multitargeted kinase inhibitors that inhibit

RNA-Seq (11,031 words) [view diff] exact match in snippet view article find links to article

>90% of human genes. There are multiple alternative splicing modes: exon skipping (most common splicing mode in humans and higher eukaryotes), mutually

Dominant white (10,969 words) [view diff] exact match in snippet view article find links to article

PMID 34223905. Retrieved 9 July 2021. Brooks, Samantha; Ernest Bailey (2005). "Exon skipping in the KIT gene causes a Sabino spotting pattern in horses". Mammalian

RBM10 (5,530 words) [view diff] exact match in snippet view article find links to article

splicing events such as alternative 5ʹ-splice site selection. In the exon skipping process, RBM10 binds close to the 3ʹ- and 5ʹ-splice sites of cassette

List of RNA-Seq bioinformatics tools (20,371 words) [view diff] exact match in snippet view article find links to article

variations in their splicing structure and identify all AS events (like exon skipping, alternate donor, etc.) by assigning to each of them an AS code. CLASS2

2019 in science (24,775 words) [view diff] no match in snippet view article find links to article

Wilson's disease. The candidate, DG12P1, is designed to correct the exon-skipping effect of Met645Arg, a genetic mutation affecting the ATP7B copper-binding