Results 31 to 40 of about 1,070 (211)

A Novel Splice-Site Variation in COL5A1 Causes Keratoconus in an Indian Family

Journal of Ophthalmology, 2019
Objective. This study aims to clarify the association between keratoconus (KC) and potential pathogenic genetic variants in a three-generation South Indian family. Methods.
Qinghong Lin, Lin Zheng, Zhengwei Shen, Liming Jie   +3 more
doaj   +1 more source

Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis

Clinical Case Reports, 2021
Autosomal recessive congenital ichthyosis (ARCI) is a rare form of keratinization disorder of the skin, which can be caused by mutations in 14 ARCI genes.
Haiyan Tang, Xiaoliu Shi, Guiying Zhang
doaj   +1 more source

N-Ethyl-N-Nitrosourea (ENU) Mutagenesis Reveals an Intronic Residue Critical for Caenorhabditis elegans 3′ Splice Site Function in Vivo

G3: Genes, Genomes, Genetics, 2016
Metazoan introns contain a polypyrimidine tract immediately upstream of the AG dinucleotide that defines the 3′ splice site. In the nematode Caenorhabditis elegans, 3′ splice sites are characterized by a highly conserved UUUUCAG/R octamer motif.
Omar A. Itani, Stephane Flibotte, Kathleen J. Dumas, Chunfang Guo, Thomas Blumenthal, Patrick J. Hu   +5 more
doaj   +1 more source

A novel GTPBP2 splicing mutation in two siblings affected with microcephaly, generalized muscular atrophy, and hypotrichosis

Clinical Case Reports, 2021
A novel splice site mutation in the GTPBP2 gene was identified by whole‐exome sequencing in two siblings with microcephaly and progressive generalized muscular atrophy associated with hypotrichosis.
Isa Abdi Rad, Ali Vahabi, Elinaz Akbariazar   +2 more
doaj   +1 more source

A Case of Renal Coloboma Syndrome Caused by Spontaneous Mutation of PAX2

罕见病研究, 2022
This article reports a case of a child with full-length (paired box family, PAX) PAX2 mutation leading to renal coloboma syndrome. The patient is an 11-year-old boy presented with persistent foamy urine and unexplained renal failure.
LING Chen, CHEN Zhi, LIU Xiaorong
doaj   +1 more source

Novel Splice Site Mutation in the PROS1 Gene in a Polish Patient with Venous Thromboembolism: c.602-2delA, Splice Acceptor Site of Exon 7

Medicina, 2020
We identified a novel splice site mutation of the PROS1 gene in a Polish family with protein S (PS) deficiency and explored the molecular pathogenesis of this previously undescribed variant.
Magdalena Mrożek, Ewa Wypasek, Martine Alhenc-Gelas, Daniel P. Potaczek, Anetta Undas   +4 more
doaj   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source

Splice-Site Mutations in Atherosclerosis Candidate Genes [PDF]

Circulation, 1999
Background —Nucleotide variants in several genes for lipid and methionine metabolism influence the risk of premature atherosclerosis. Ten percent of single nucleotide substitutions in these genes involve mRNA splice sites.
Y, von Kodolitsch, R E, Pyeritz, P K, Rogan   +2 more
openaire   +2 more sources

Pathogenesis of acephalic spermatozoa syndrome caused by PMFBP1 mutation

Basic and Clinical Andrology
Background Acephalic spermatozoa syndrome is a rare but severe type of teratozoospermia. The familial trait of acephalic spermatozoa syndrome suggests that genetic factors play an important role.
Huaqiang Xia, Juan Zhang, Wuyuan Mao, Kangle Yi, Teng Wang, Lingyan Liao   +5 more
doaj   +1 more source