Molecular pathology of the CFTR locus in male infertility

M Claustres - Reproductive biomedicine online, 2005 - Elsevier
Congenital bilateral absence of the vas deferens (CBAVD) is a form of infertility with an
autosomal recessive genetic background in otherwise healthy males. CBAVD is caused by …

Purinergic signalling in the reproductive system in health and disease

G Burnstock - Purinergic signalling, 2014 - Springer
There are multiple roles for purinergic signalling in both male and female reproductive
organs. ATP, released as a cotransmitter with noradrenaline from sympathetic nerves …

Role of inflammation and oxidative stress in tissue damage associated with cystic fibrosis: CAPE as a future therapeutic strategy

VEM Soares, TIT do Carmo, F Dos Anjos… - Molecular and Cellular …, 2022 - Springer
Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic
fibrosis transmembrane conductance regulator (CFTR) gene, responsible for the synthesis …

[HTML][HTML] CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of …

H Cai, X Qing, JD Niringiyumukiza, X Zhan, D Mo… - Genetics in …, 2019 - Elsevier
Purpose CFTR variant is the main genetic contributor to congenital (unilateral/bilateral)
absence of the vas deferens (CAVD/CUAVD/CBAVD). We performed a systematic review to …

Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility

L Tamburino, A Guglielmino, E Venti… - Reproductive biomedicine …, 2008 - Elsevier
Mutations of the cystic fibrosis transmembrane regulator (CFTR) gene and polymorphisms,
such as the (TG) m and Tn polymorphic loci in intron 8 at the splice acceptor site of exon 9 …

Effects of various pesticides on human 5α-reductase activity in prostate and LNCaP cells

S Lo, I King, A Alléra, D Klingmüller - Toxicology in vitro, 2007 - Elsevier
Certain pesticides are able to disturb the sex steroid hormone system and to act as
antiandrogens. While the different underlying mechanisms remain unclear, inhibition of 5α …

Adenosine stimulates anion secretion across cultured and native adult human vas deferens epithelia

RW Carlin, JH Lee, DC Marcus… - Biology of …, 2003 - academic.oup.com
Experiments were conducted to determine the responsiveness of human vas deferens
epithelial cell monolayers to adenosine and related agonists. Human abdominal vas …

Cystic fibrosis transmembrane conductance regulator gene mutations in infertile males with congenital bilateral absence of the vas deferens

S Uzun, S Gökçe, K Wagner - The Tohoku journal of experimental …, 2005 - jstage.jst.go.jp
MATERIALS AND METHODS Forty-four chromosomes of 22 adult infertile males from
Austrian ancestry clinically diagnosed with CBAVD have been analyzed to identify the …

NYD-SP6, a novel gene potentially involved in regulating testicular development/spermatogenesis

J Xiao, M Xu, J Li, HC Chan, M Lin, H Zhu… - Biochemical and …, 2002 - Elsevier
Using cDNA microarray hybridization from a human testicular cDNA library, a novel gene
exhibiting 30-fold difference in expression level between adult and embryo human testes …

The prevalence of common CFTR mutations in Iranian infertile men with non-CAVD obstructive azoospermia by using ARMS PCR techniques

K Safinejad, M Darbouy, SM Kalantar, S Zeinali… - Journal of assisted …, 2011 - Springer
Purpose To evaluate five common cystic fibrosis trans-membrane conductance regulator
(CFTR) mutations (ΔF508, G542X, R117H, W1282X and N1303K) in the Iranian infertile …