Results 21 to 30 of about 83,578 (286)
Novel POLG Splice Site Mutation and Optic Atrophy [PDF]
Archives of Neurology, 2011 To investigate the molecular etiology of 2 unrelated patients with a multisystem mitochondrial disorder accompanied by optic atrophy in one of them.Clinical examination and neurophysiological, radiological, morphological, and molecular analyses.Tertiary care neuromuscular clinic and molecular genetics laboratory.A 65-year-old man (patient 1) with ...
Teerin Liewluck +5 more
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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-
George S. Charames +5 more
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Identification of a novel splice‐site mutation in the CYP1A2 gene [PDF]
British Journal of Clinical Pharmacology, 2003 Aims To identify the molecular basis for a low CYP1A2 metabolic status, as determined by a caffeine phenotyping test, in a 71‐year‐old, nonsmoking, Caucasian woman who presented with very high clozapine concentrations despite being administered a standard dose of the drug.Methods The nucleotide sequence of the 7 exons, exon‐intron boundaries and 5 ...
Franck Broly +7 more
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Information analysis of human splice site mutations
Human Mutation, 1998 Splice site nucleotide substitutions can be analyzed by comparing the individual information contents (Ri, bits) of the normal and variant splice junction sequences [Rogan and Schneider, 1995]. In the present study, we related splicing abnormalities to changes in Ri values of 111 previously reported splice site substitutions in 41 different genes ...
Rogan, Peter K. +2 more
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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 +3 more
doaj +1 more source
A mutational analysis of U12-dependent splice site dinucleotides [PDF]
RNA, 2005 Introns spliced by the U12-dependent minor spliceosome are divided into two classes based on their splice site dinucleotides. The /AU-AC/ class accounts for about one-third of U12-dependent introns in humans, while the /GU-AG/ class accounts for the other two-thirds.
John D. Fuller +2 more
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BAP1 missense mutation c.2054 A>T (p.E685V) completely disrupts normal splicing through creation of a novel 5' splice site in a human mesothelioma cell line. [PDF]
PLoS ONE, 2015 BAP1 is a tumor suppressor gene that is lost or deleted in diverse cancers, including uveal mela¬noma, malignant pleural mesothelioma (MPM), clear cell renal carcinoma, and cholangiocarcinoma.
Arianne Morrison +4 more
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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 +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
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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 +5 more
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