Splicing mutation - Open Access .click

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Restoration of the Normal Splicing Pattern of the PLP1 Gene by Means of an Antisense Oligonucleotide Directed against an Exonic Mutation [PDF]

PLoS ONE, 2013
An exonic missense mutation, c.436C>G, in the PLP1 gene of a patient affected by the hypomyelinating leukodystrophy, Pelizaeus-Merzbacher disease, has previously been found to be responsible for the alteration of the canonical alternative splicing ...
Mirella Filocamo, Barbara Tappino, Stefano Regis +2 more
exaly +2 more sources

Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation

Kidney & Blood Pressure Research, 2023
Introduction: Neurofibromatosis type 1 (NF-1) is caused by mutations in the NF1 gene that encodes neurofibromin, a negative regulator of RAS proto-oncogene.
Yi-Ting Lu +7 more
doaj +1 more source

A Missense Mutation rs781536408 (c.2395G>A) of TYK2 Affects Splicing and Causes Skipping of Exon18 in vivo

Frontiers in Genetics, 2021
TYK2 variants can impact disease onset or progression. In our previous study, we identified abnormal splicing that happened near rs781536408 in the TYK2 gene.
Suqing Chen +6 more
doaj +1 more source

The mutation in splicing factor genes correlates with unfavorable prognosis, genomic instability, anti-tumor immunosuppression and increased immunotherapy response in pan-cancer

Frontiers in Cell and Developmental Biology, 2023
Splicing abnormality resulting from somatic mutations in key splicing factor genes (SFG) has been detected in various cancers. Hence, an in-depth study of splicing factor genes mutations’ impact on pan-cancer is meaningful.
Jiangti Luo +9 more
doaj +1 more source

Germline Mutations for Kidney Volume in ADPKD

Kidney International Reports, 2022
Introduction: Valid prediction models or predictors of disease progression in children and young patients with autosomal dominant polycystic kidney disease (ADPKD) are lacking.
Hiroshi Kataoka +12 more
doaj +1 more source

BAP1 missense mutation c.2054 A>T (p.E685V) completely disrupts normal splicing through creation of a novel 5' splice site in a human mesothelioma cell line. [PDF]

PLoS ONE, 2015
BAP1 is a tumor suppressor gene that is lost or deleted in diverse cancers, including uveal mela¬noma, malignant pleural mesothelioma (MPM), clear cell renal carcinoma, and cholangiocarcinoma.
Arianne Morrison +4 more
doaj +1 more source

In Silico Analysis of a Highly Mutated Gene in Cancer Provides Insight into Abnormal mRNA Splicing: Splicing Factor 3B Subunit 1^K700E Mutant

Biomolecules, 2020
Cancer is the second leading cause of death worldwide. The etiology of the disease has remained elusive, but mutations causing aberrant RNA splicing have been considered one of the significant factors in various cancer types.
Asmaa Samy +3 more
doaj +1 more source

Somatic Mutational Landscape of Splicing Factor Genes and Their Functional Consequences across 33 Cancer Types

Cell Reports, 2018
Summary: Hotspot mutations in splicing factor genes have been recently reported at high frequency in hematological malignancies, suggesting the importance of RNA splicing in cancer.
Michael Seiler +733 more
doaj +1 more source

A pan-cancer analysis of transcriptome changes associated with somatic mutations in U2AF1 reveals commonly altered splicing events. [PDF]

PLoS ONE, 2014
Although recurrent somatic mutations in the splicing factor U2AF1 (also known as U2AF35) have been identified in multiple cancer types, the effects of these mutations on the cancer transcriptome have yet to be fully elucidated.
Angela N Brooks +13 more
doaj +1 more source

Clinical significance of intronic variants in BRAF inhibitor resistant melanomas with altered BRAF transcript splicing

Biomarker Research, 2017
Alternate BRAF splicing is the most common mechanism of acquired resistance to BRAF inhibitor treatment in melanoma. Recently, alternate BRAF exon 4–8 splicing was shown to involve an intronic mutation, located 51 nucleotides upstream of BRAF exon 9 ...
Gulietta M. Pupo +11 more
doaj +1 more source

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