Results 31 to 40 of about 1,070 (210)

Effect of 5′ Splice Site Mutations on Splicing of the Preceding Intron [PDF]

Molecular and Cellular Biology, 1990
Three exon constructs containing identical intron and exon sequences were mutated at the 5' splice site beginning intron 2 and assayed for the effect of the mutation on splicing of the upstream intron in vitro. Alteration of two or six bases within the 5' splice site reduced removal of intron 1 at least 20-fold, as determined by quantitation of either ...
M, Talerico, S M, Berget
openaire   +2 more sources

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

A novel aberrant splice site mutation in the APC gene [PDF]

Journal of Medical Genetics, 2002
Familial adenomatous polyposis (FAP) is an inherited, autosomal dominant syndrome characterised by the presence of multiple (>100) adenomatous polyps in the colon and rectum. These polyps, if left untreated, progress to colorectal cancer (CRC), typically by the age of 40 years.1 Other clinical features include variable age of onset of polyposis (age 10-
G S, Charames, H, Cheng, C A, Gilpin, A G W, Hunter, T, Berk, B, Bapat   +5 more
openaire   +2 more sources

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

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles [PDF]

Neurology, 2015
To identify the genetic etiology and characterize the clinicopathologic features of a novel distal myopathy.We performed whole-exome sequencing on a family with an autosomal dominant distal myopathy and targeted exome sequencing in 1 patient with sporadic distal myopathy, both with rimmed vacuolar pathology.
Bucelli, RC, Arhzaouy, K, Pestronk, A, Pittman, SK, Rojas, L, Sue, CM, Evilä A, Hackman, P, Udd, B, Harms, MB, Weihl, CC   +10 more
openaire   +3 more sources

Splice site, frameshift, and chimericGFAPmutations in Alexander disease [PDF]

Human Mutation, 2012
Alexander disease (AxD) is a usually fatal astrogliopathy primarily caused by mutations in the gene encoding glial fibrillary acidic protein (GFAP), an intermediate filament protein expressed in astrocytes. We describe three patients with unique characteristics, and whose mutations have implications for AxD diagnosis and studies of intermediate ...
Flint, D., Li, R., Webster, L.S., Naidu, S., Kolodny, E., Percy, A., van der Knaap, M.S., Powers, J.M., Mantovani, J.F., Ekstein, J., Goldman, J.E., Messing, A., Brenner, M.   +12 more
openaire   +2 more sources

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