Results 11 to 20 of about 3,322,892 (202)
BMC Medical Genomics, 2018 Background Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). Nearly 150 pathogenic mutations have been identified in FLCN. The most frequent pattern is a frameshift mutation within
Mitsuko Furuya +5 more
doaj +2 more sources
BMC Medical Genetics, 2011 Background Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology.
Mahoney Lane J +7 more
doaj +2 more sources
An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia? [PDF]
MusclesSYNE2 mutations have been associated with skeletal and cardiac muscle diseases, including Emery-Dreifuss muscular dystrophy (EDMD). Here, we present a 70-year-old male patient with muscle pain and elevated serum creatine kinase levels in whom whole-exome
Theresa Paulus +10 more
doaj +2 more sources
Novel splice site mutation in the growth hormone receptor gene in Turkish patients with Laron-type dwarfism [PDF]
, 2008 Growth hormone (GH) is involved in growth, and fat and carbohydrate metabolism. Interaction of GH with the GH receptor (GHR) is necessary for systemic and local production of insulin-like growth factor-I (IGF-I) which mediates GH actions.
A. Ozon +11 more
core +4 more sources
A method of predicting changes in human gene splicing induced by genetic variants in context of cis-acting elements [PDF]
, 2010 Background: polymorphic variants and mutations disrupting canonical splicing isoforms are among the leading causes of human hereditary disorders. While there is a substantial evidence of aberrant splicing causing Mendelian diseases, the implication of ...
Churbanov, Alexander +8 more
core +1 more source
The Scientific World Journal, 2014 Spinal muscular atrophy (SMA) is a human genetic disease which occurs because of the deletion or mutation of SMN1 gene. SMN1 gene encodes the SMN protein which plays a key role in spliceosome assembly. Although human patients contain SMN2, a duplicate of
Sunghee Cho +9 more
doaj +1 more source
Mutations in the U5 snRNA result in altered splicing of subsets of pre-mRNAs and reduced stability of Prp8 [PDF]
, 2009 The U5 snRNA loop 1 aligns the 5' and 3' exons for ligation during the second step of pre-mRNA splicing. U5 is intimately associated with Prp8, which mediates pre-mRNA repositioning within the catalytic core of the spliceosome and interacts directly with
David Barrass, J. +5 more
core +1 more source
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 +4 more
doaj +1 more source
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.
Philip Biggin +11 more
core +2 more sources
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 +4 more
doaj +1 more source