Results 21 to 30 of about 1,070 (210)

3′ Splice Site Sequences of Spinal Muscular Atrophy Related SMN2 Pre-mRNA Include Enhancers for Nearby Exons

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, Heegyum Moon, Tiing Jen Loh, Hyun Kyung Oh, Hey-Ran Kim, Myung-Geun Shin, D. Joshua Liao, Jianhua Zhou, Xuexiu Zheng, Haihong Shen   +9 more
doaj   +1 more source

Splice-site mutation causing partial retention of intron in the FLCN gene in Birt-Hogg-Dubé syndrome: a case report

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, Hironori Kobayashi, Masaya Baba, Takaaki Ito, Reiko Tanaka, Yukio Nakatani   +5 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

Impact of RB1 gene mutation type in retinoblastoma patients on clinical presentation and management outcome

Hematology/Oncology and Stem Cell Therapy, 2020
Objective/background: Retinoblastoma (RB), the most common intraocular malignancy in children, is caused by biallelic inactivation of the human retinoblastoma susceptibility gene (RB1).
Mustafa Mehyar, Mohammad Mosallam, Abdelghani Tbakhi, Ala Saab, Iyad Sultan, Rasha Deebajah, Imad Jaradat, Reem AlJabari, Mona Mohammad, Ibrahim AlNawaiseh, Maysa Al-Hussaini, Yacoub A. Yousef   +11 more
doaj   +1 more source

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, Yvonne Chekaluk, Ruben Bacares, Marc Ladanyi, Liying Zhang   +4 more
doaj   +1 more source

Novel de novo BRCA2 mutation in a patient with a family history of breast cancer

BMC Medical Genetics, 2008
Background BRCA2 germ-line mutations predispose to breast and ovarian cancer. Mutations are widespread and unclassified splice variants are frequently encountered.
Eiberg Hans, Filtenborg-Barnkob Bettina, Albrechtsen Anders, Jønson Lars, Bisgaard Marie, Hansen Thomas, Ejlertsen Bent, Nielsen Finn C   +7 more
doaj   +1 more source

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

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

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, Lidov Hart GW, Estrella Elicia A, Duncan Anna R, Boyden Steven E, Katz Jonathan S, Kunkel Louis M, Kang Peter B   +7 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

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