Results 21 to 30 of about 590,083 (218)

A novel synonymous variant in the NF1 gene disrupting splicing contributes to neurofibromatosis pathogenesis [PDF]

Frontiers in Genetics
Zitong Xu
exaly   +2 more sources

The population frequency of human mitochondrial DNA variants is highly dependent upon mutational bias

Biology Open, 2021
Next-generation sequencing can quickly reveal genetic variation potentially linked to heritable disease. As databases encompassing human variation continue to expand, rare variants have been of high interest, since the frequency of a variant is expected ...
Cory D. Dunn
doaj   +1 more source

Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells

Stem Cells International, 2021
Human induced pluripotent stem cells (hiPSCs) generated from patients and the derivative retinal cells enable the investigation of pathological and novel variants in relevant cell populations.
Benjamin M. Nash, To Ha Loi, Milan Fernando, Amin Sabri, James Robinson, Anson Cheng, Steven S. Eamegdool, Elizabeth Farnsworth, Bruce Bennetts, John R. Grigg, Seo-Kyung Chung, Anai Gonzalez-Cordero, Robyn V. Jamieson   +12 more
doaj   +1 more source

Characterization of Synonymous BRCA1:c.132C>T as a Pathogenic Variant

Frontiers in Oncology, 2022
Breast cancer gene 1 (BRCA1) and BRCA2 are tumor suppressors involved in DNA damage response and repair. Carriers of germline pathogenic or likely pathogenic variants in BRCA1 or BRCA2 have significantly increased lifetime risks of breast cancer, ovarian
Jun Li, Jun Li, Jun Li, Ping Wang, Cuiyun Zhang, Cuiyun Zhang, Cuiyun Zhang, Sile Han, Han Xiao, Zhiyuan Liu, Xiaoyan Wang, Xiaoyan Wang, Xiaoyan Wang, Weiling Liu, Bing Wei, Bing Wei, Bing Wei, Jie Ma, Jie Ma, Jie Ma, Hongle Li, Yongjun Guo, Yongjun Guo, Yongjun Guo   +23 more
doaj   +1 more source

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1

, 2010
Purpose: Autosomal recessive bestrophinopathy (ARB) is a newly defined retinal dystrophy caused by biallelic mutations in bestrophin-1 (BEST1) and is hypothesized to represent the null bestrophin-1 phenotype in humans.
Davidson, Alice E., Webster, Andrew R., Sergouniotis, Panagiotis I., Burgess-Mullan, Rosemary, Foster, Paul J., Black, Graeme C M, Low, Sancy, Hart-Holden, Nichola, Manson, Forbes D C; id_orcid   +8 more
core   +10 more sources

A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity. [PDF]

Int J Mol Sci, 2019
Synonymous variants within coding regions may influence protein expression and function. We have previously reported increased protein expression levels ex vivo (~120% in comparison to wild-type) from a synonymous polymorphism variant, c.354G>A [p.P118P],
Hunt R, Hettiarachchi G, Katneni U, Hernandez N, Holcomb D, Kames J, Alnifaidy R, Lin B, Hamasaki-Katagiri N, Wesley A, Kafri T, Morris C, Bouché L, Panico M, Schiller T, Ibla J, Bar H, Ismail A, Morris H, Komar A, Kimchi-Sarfaty C.   +20 more
europepmc   +2 more sources

Preliminary molecular evidence associating a novel BRCA1 synonymous variant with hereditary ovarian cancer syndrome. [PDF]

Hum Genome Var, 2018
Extensive molecular screening of the BRCA1/2 (BRCA) genes by massively parallel sequencing (MPS) identified variants of uncertain (or unknown) significance (VUS) and novel variants.
Minucci A, Concolino P, De Bonis M, Costella A, Paris I, Scambia G, Capoluongo E.   +6 more
europepmc   +3 more sources

Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles

BMC Nephrology, 2020
Background PKHD1 is the main genetic cause of autosomal recessive polycystic kidney disease (ARPKD), a hereditary hepato-renal fibrocystic disorder which is the most important cause of end-stage renal disease during early childhood.
Elisa Molinari, Shalabh Srivastava, Rebecca M. Dewhurst, John A. Sayer   +3 more
doaj   +1 more source

Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease

Hepatology Communications, 2022
Wilson disease (WD) is caused by biallelic pathogenic variants in adenosine triphosphatase copper‐transporting beta (ATP7B); however, genetic testing identifies only one or no pathogenic ATP7B variant in a number of patients with WD.
Marlene Panzer, André Viveiros, Benedikt Schaefer, Nadja Baumgartner, Klaus Seppi, Atbin Djamshidian, Theodor Todorov, William J. H. Griffiths, Eckart Schott, Markus Schuelke, Dennis Eurich, Albert Friedrich Stättermayer, Adrian Bomford, Pierre Foskett, Julia Vodopiutz, Rudolf Stauber, Elke Pertler, Bernhard Morell, Herbert Tilg, Thomas Müller, Stefan Kiechl, Raul Jimenez‐Heredia, Karl Heinz Weiss, Si Houn Hahn, Andreas Janecke, Peter Ferenci, Heinz Zoller   +26 more
doaj   +1 more source

Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant Splicing

Frontiers in Medicine, 2022
BackgroundThe incorrect interpretation of missense and synonymous variants can lead to improper molecular diagnosis and subsequent faulty genetic counselling.
Haiyue Deng, Yanqin Zhang, Jie Ding, Fang Wang   +3 more
doaj   +1 more source