Results 31 to 40 of about 91,518 (258)

A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement. [PDF]

PLoS ONE, 2011
BackgroundThe Ehlers-Danlos Syndrome (EDS) is a heritable connective tissue disorder characterized by hyperextensible skin, joint hypermobility and soft tissue fragility.
Sofie Symoens, Fransiska Malfait, Philip Vlummens, Trinh Hermanns-Lê, Delfien Syx, Anne De Paepe   +5 more
doaj   +1 more source

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

Structure‐forward targeting of claudins with synthetic binders

FEBS Letters, EarlyView.
Claudins form the paracellular barriers between epithelial and endothelial tissues at tight junctions and are targets for molecular binders with the goal of modulating barrier permeability. Claudin‐binding molecules are relevant in drug delivery or in altering claudin interactions with disease‐causing proteins.
Alex J. Vecchio
wiley   +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

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

From junk to function — How weak selection in eukaryotes builds new parts and drives genomic complexity

FEBS Letters, EarlyView.
How do genomes gain new functional parts? In eukaryotes, which tend to evolve under weak selection, much of the genome is junk. Palazzo and Qiu borrow the logic of Markov chains to show how non‐functional DNA becomes functional through the appearance of intermediate states, which arise due to epistasis, buffering, and biochemical messiness, allowing ...
Alexander F. Palazzo, Yi Qiu
wiley   +1 more source