Genetic mutation analysis of 22 patients with congenital absence of vas deferens: a single-center study†

2021 ◽  
Author(s):  
Mao-Qing Tan ◽  
Wu-Jian Huang ◽  
Feng-Hua Lan ◽  
Yong-Jun Xu ◽  
Mei-Yu Zheng ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Vas Deferens ◽  
Genetic Mutation ◽  
Congenital Absence ◽  
Single Center ◽  
Single Center Study ◽  
Center Study

Genetic mutation analysis of 22 patients with congenital absence of vas deferens: A single-center study

2021 ◽  
Author(s):  
Mao-Qing Tan ◽  
Wu-Jian Huang ◽  
Feng-Hua Lan ◽  
Yong-Jun Xu ◽  
Mei-Yu Zheng ◽  
...  
Keyword(s):  
Vas Deferens ◽  
Bioinformatic Analysis ◽  
Genetic Mutation ◽  
Congenital Absence ◽  
Chinese Patients ◽  
Obstructive Azoospermia ◽  
Missense Mutations ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Single Center Study

Abstract Congenital absence of the vas deferens (CAVD), a congenital malformation of the male reproductive system, causes obstructive azoospermia and male infertility. Currently, the cystic fibrosis transmembrane conductance regulator (CFTR) has been recognized as the main pathogenic gene in CAVD, with some other genes, such as adhesion G-protein coupled receptor G2 (ADGRG2), solute carrier family 9 isoform 3 (SLC9A3), sodium channel epithelial 1 subunit beta (SCNN1B), and carbonic anhydrase 12 (CA12) being candidate genes in the pathogenesis of CAVD. However, the frequency and spectrum of these mutations, as well as the pathogenic mechanisms of CAVD, have not been fully investigated. Here, we sequenced all genes with potentially pathogenic mutations using next-generation sequencing and verified all identified variants by Sanger sequencing. Further bioinformatic analysis was performed to predict the pathogenicity of mutations. We described the distribution of the p.V470M, poly-T, and TG-repeat CFTR polymorphisms, and identified novel missense mutations in the CFTR and SLC9A3 genes, respectively. Taken together, we identified mutations in the CFTR, ADGRG2, SLC9A3, SCNN1B, and CA12 genes in 22 patients with CAVD, thus broadening the genetic spectrum of Chinese patients with CAVD.

scholarly journals Oncogenic driver mutation analysis in lung adenocarcinoma: A single center study in India

2018 ◽  
Vol 29 ◽  
pp. ix156
Author(s):  
S.S. Kulkarni ◽  
A. Rauthan ◽  
P. Patil ◽  
T. Sood ◽  
S. Somashekhar ◽  
...  
Keyword(s):  
Lung Adenocarcinoma ◽  
Mutation Analysis ◽  
Driver Mutation ◽  
Single Center ◽  
Single Center Study ◽  
Oncogenic Driver ◽  
Center Study

1655: Long-Term Functional Outcome in Orthotopic Bladder Replacement in Women: A Single Center Study

2007 ◽  
Vol 177 (4S) ◽  
pp. 549-549
Author(s):  
Hannes Steiner ◽  
Thomas Akkad ◽  
Christian Gozzi ◽  
Brigitte Springer-Stoehr ◽  
Georg Bartsch
Keyword(s):  
Functional Outcome ◽  
Single Center ◽  
Bladder Replacement ◽  
Single Center Study ◽  
Center Study

ENDOSCOPIC TREATMENT OF RECTAL NEUROENDOCRINE TUMORS IN A 12 YEAR RETROSPECTIVE SINGLE CENTER STUDY

2019 ◽  
Author(s):  
K Dąbkowski ◽  
A Białek ◽  
N Rusiniak-Rossińska ◽  
K Michalska ◽  
B Kos-Kudła ◽  
...  
Keyword(s):  
Neuroendocrine Tumors ◽  
Endoscopic Treatment ◽  
Single Center ◽  
Single Center Study ◽  
Center Study

A Retrospective Single-center Study on Time Critical Neurological Disorders in the Emergency Room of a Tertiary Pediatric Center

2019 ◽  
Author(s):  
Michaela Bonfert ◽  
Claire Andonian ◽  
Christoph Bidlingmaier ◽  
Claudia Berlin ◽  
Ingo Borggraefe ◽  
...  
Keyword(s):  
Emergency Room ◽  
Neurological Disorders ◽  
Single Center ◽  
Single Center Study ◽  
Time Critical ◽  
Pediatric Center ◽  
Center Study

Aortic Root Replacement for Destructive Endocarditis—Microbiological Considerations: A Single-Center Study

2020 ◽  
Author(s):  
M. Szczechowicz ◽  
S. Mkalaluh ◽  
A. Mashhour ◽  
K. Zhigalov ◽  
A. Weymann ◽  
...  
Keyword(s):  
Aortic Root ◽  
Aortic Root Replacement ◽  
Single Center ◽  
Single Center Study ◽  
Center Study
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