Results 21 to 30 of about 60,805 (199)

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

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

Clinical and genetic analysis of classical Ehlers‐Danlos syndrome patient caused by synonymous mutation in COL5A2

Molecular Genetics & Genomic Medicine, 2021
Background Classical Ehlers‐Danlos syndrome (cEDS) is a heterogeneous connective tissue disorder that mainly results from the germline mutation of COL5A1 and COL5A2.
Na Ma, Zhenhua Zhu, Jing Liu, Ying Peng, Xiaomeng Zhao, Weiling Tang, Zhengjun Jia, Hui Xi, Bodi Gao, Hua Wang, Juan Du   +10 more
doaj   +1 more source

A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure

BMC Medical Genomics, 2021
Background Lethal respiratory failure is primarily caused by a deficiency of pulmonary surfactant, and is the main cause of neonatal death among preterm infants.
Weifeng Zhang, Zhiyong Liu, Yiming Lin, Ruiquan Wang, Jinglin Xu, Ying He, Fengfeng Zhang, Lianqiang Wu, Dongmei Chen   +8 more
doaj   +1 more source

A case of IL-7R deficiency caused by a novel synonymous mutation and implications for mutation screening in SCID diagnosis.

Frontiers in Immunology, 2016
Reported synonymous substitutions are generally non-pathogenic and rare pathogenic synonymous variants may be disregarded unless there is a high index of suspicion.
FERNANDO GALLEGO-BUSTOS, VALER GOTEA, JOSE T RAMOS-AMADOR, REBECA RODRIGUEZ-PENA, JUANA GIL, ANA SASTRE, AITOR DELMIRO, GHADI RAI, LAURA ELNITSKI, LUIS I GONZÁLEZ-GRANADO, LUIS M ALLENDE   +10 more
doaj   +1 more source

Investigation of a synonymous mutation in Btk in a patient with agammaglobulinemia: A case report

Immunity, Inflammation and Disease, 2023
Background X‐linked agammaglobulinemia (XLA) is the most common form of agammaglobulinemia and is caused by mutations in Btk, which encodes Bruton tyrosine kinase (BTK).
Cindy Srinivasan, Afshin Shameli, Bruce Ritchie, Adil Adatia   +3 more
doaj   +1 more source

Erratum: a synonymous variant in GCK gene as a cause of gestational diabetes mellitus (diabetes mellitus. 2019;22(2). Doi: 10.14341/dm9938)

Сахарный диабет, 2019
An erratum on «A synonymous variant in GCK gene as a cause of gestational diabetes mellitus» by Natalya A. Zubkova, Petr M. Rubtsov, Liudmila I. Ibragimova, Nina A. Makretskaya, Evgeny V. Vasiliev, Vasily M. Petrov, Anatoly N. Tiulpakov (2019)
Natalia A. Zubkova, Petr M. Rubtsov, Fatima F. Burumkulova, Liudmila I. Ibragimova, Nina A. Makretskaya, Evgeny V. Vasilyev, Vasily M. Petrov, Anatoly N. Tiulpakov   +7 more
doaj   +1 more source

Surveillance for feline herpesvirus type 1 mutation and development of resistance in cats treated with antiviral medications

Frontiers in Veterinary Science, 2023
Feline herpesvirus type 1 (FHV-1) commonly causes ocular surface disease in cats and is treated with antiviral medications targeting viral DNA polymerase (UL30/42).
Andrew C. Lewin, Nikole E. Ineck, Melanie A. Mironovich, Morgan E. Marino, Chin-Chi Liu, Ugochi Emelogu, Erinn P. Mills, Pilar Camacho-Luna, Renee T. Carter   +8 more
doaj   +1 more source

Analysis of genetic variation in human papillomavirus type 16 E1 and E2 in women with cervical infection in Xinjiang, China

BMC Medical Genomics, 2021
Background Xinjiang is one of the regions with a high incidence of cervical cancer, and the genetic variation of human papillomavirus may increase its ability to infect the human body and enhance virus-mediated immune escape ability.
Luyue Wang, Fang Wang, Shaowei Fu, Chunhe Zhang, Xiangyi Zhe, Hongtao Li, Dongmei Li, Renfu Shao, Zemin Pan   +8 more
doaj   +1 more source