Results 21 to 30 of about 159,772 (339)

Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7 [PDF]

, 2016
Background: Inbreeding and population bottlenecks in the ancestry of Friesian horses has led to health issues such as dwarfism. The limbs of dwarfs are short and the ribs are protruding inwards at the costochondral junction, while the head and back ...
Back, Willem, Bastiaansen, John WM, Boegheim, Iris J, Dibbits, Bert W, Ducro, Bart J, Hellinga, Ids, Leegwater, Peter A, Monroe, Glen R, Nijman, Isaac J, Schurink, Anouk, van de Goor, Leanne H, van Steenbeek, Frank G, Vos-Loohuis, Manon   +12 more
core   +7 more sources

A mutation hotspot at the p14ARF splice site [PDF]

Oncogene, 2005
Germline mutations of CDKN2A that affect the p16INK4a transcript have been identified in numerous melanoma pedigrees worldwide. In the UK, over 50% of pedigrees with three or more cases of melanoma have been found to carry mutations of CDKN2A. Mutations that affect p14ARF exon 1beta exclusively are very rare.
Mark, Harland, Claire F, Taylor, Philip A, Chambers, Kairen, Kukalizch, Juliette A, Randerson-Moor, Nelleke A, Gruis, Femke A, de Snoo, Jeanet A C, ter Huurne, Alisa M, Goldstein, Margaret A, Tucker, D Timothy, Bishop, Julia A Newton, Bishop   +11 more
openaire   +2 more sources

A 5' splice site mutation in fucosidosis. [PDF]

Journal of Medical Genetics, 1993
Fucosidosis is a rare, autosomal recessive, lysosomal storage disease, resulting from a deficiency of the enzyme alpha-fucosidase (EC 3.2.1.51). It is characterised clinically by progressive mental and motor deterioration, growth retardation, coarse facies, and often recurrent infections, but the course of the disease is variable.
M, Williamson, H, Cragg, J, Grant, K, Kretz, J, O'Brien, P J, Willems, E, Young, B, Winchester   +7 more
openaire   +2 more sources

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

Actions of Agonists, Fipronil and Ivermectin on the Predominant In Vivo Splice and Edit Variant (RDLbd, I/V) of the Drosophila GABA Receptor Expressed in Xenopus laevis Oocytes [PDF]

, 2014
Ionotropic GABA receptors are the targets for several classes of insecticides. One of the most widely-studied insect GABA receptors is RDL (resistance to dieldrin), originally isolated from Drosophila melanogaster.
Biggin, P, Buckingham, SD, Lees, K, Musgaard, M, Sattelle, D, Suwanmanee, S   +5 more
core   +10 more sources

The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion. [PDF]

, 2017
Common genetic variants at the ARL15 locus are associated with plasma adiponectin, insulin and HDL cholesterol concentrations, obesity, and coronary atherosclerosis.
Alison Sleigh, Anna Stears, Claire Adams, Felicity Payne, Inês Barroso, Isabel Huang-Doran, Katherine Fawcett, Nuno Rocha, Robert K. Semple, Stephen O’Rahilly, Vladimir Saudek   +10 more
core   +3 more sources

Prenatal diagnosis of familial recessive PIGN mutation associated with multiple anomalies: A case report

Taiwanese Journal of Obstetrics & Gynecology, 2021
Objective: We present a novel homozygous splice site mutation in the PIGN gene identified by whole exome sequencing and explored the genotype–phenotype correlation.
Li Sun, Xiaomei Yang, Yasong Xu, Shiyu Sun, Qichang Wu   +4 more
doaj   +1 more source

Activation of cryptic splice sites in three patients with chronic granulomatous disease

Molecular Genetics & Genomic Medicine, 2019
Background Chronic granulomatous disease (CGD) is a primary immune deficiency caused by mutations in the genes encoding the structural components of the phagocyte NADPH oxidase.
Martin de Boer, Karin van Leeuwen, Mathias Hauri‐Hohl, Dirk Roos   +3 more
doaj   +1 more source

Novel compound heterozygous mutations for lipoprotein lipase deficiency: a G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5′ splice site mutation of intron 8

Journal of Lipid Research, 2001
We systematically investigated the molecular defects causing a primary LPL deficiency in a Japanese male infant (patient DI) with fasting hyperchylomicronemia (type I hyperlipoproteinemia) and in his parents.
Yasuyuki Ikeda, Atsuko Takagi, Yuusei Nakata, Yasuhiko Sera, Sumio Hyoudou, Kazuko Hamamoto, Yoshikazu Nishi, Akira Yamamoto   +7 more
doaj   +1 more source

Identification of a novel splicing‐altering LAMP2 variant in a Chinese family with Danon disease

ESC Heart Failure, 2023
Aims This study aimed to identify a novel splicing‐altering LAMP2 variant associated with Danon disease. Methods and results To identify the potential genetic mutation in a Chinese pedigree, whole‐exome sequencing was conducted in the proband, and Sanger
Di Fu, Shuai Wang, Yonghong Luo, Sha Wu, Daoquan Peng   +4 more
doaj   +1 more source