CFTR gene mutations and polymorphism are associated with non-obstructive azoospermia: From case-control study.
暂无分享,去创建一个
[1] A. Hanukoglu,et al. Localization of epithelial sodium channel (ENaC) and CFTR in the germinal epithelium of the testis, Sertoli cells, and spermatozoa , 2018, Journal of Molecular Histology.
[2] P. Noveski,et al. SNaPshot Assay for the Detection of the Most Common CFTR Mutations in Infertile Men , 2014, PloS one.
[3] L. Chessa,et al. Impact of Cystic Fibrosis Transmembrane Regulator (CFTR) gene mutations on male infertility. , 2014, Archivio italiano di urologia, andrologia : organo ufficiale [di] Societa italiana di ecografia urologica e nefrologica.
[4] S. Singh,et al. Increased frequency of CFTR gene mutations identified in Indian infertile men with non-CBAVD obstructive azoospermia and spermatogenic failure. , 2014, Gene.
[5] Q. Du,et al. The CFTR M470V, Intron 8 Poly-T, and 8 TG-Repeats Detection in Chinese Males with Congenital Bilateral Absence of the Vas Deferens , 2014, BioMed research international.
[6] J. Chen,et al. Regulation of male fertility by CFTR and implications in male infertility. , 2012, Human reproduction update.
[7] Lei Jiang,et al. The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens. , 2012, Asian journal of andrology.
[8] Z. Hojati,et al. Exon 10 CFTR gene mutation in male infertility , 2012, Iranian journal of reproductive medicine.
[9] A S Verkman,et al. CFTR: folding, misfolding and correcting the ΔF508 conformational defect. , 2012, Trends in molecular medicine.
[10] J. Nobel,et al. Assessment of CFTR function in homozygous R117H-7T subjects. , 2011, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
[11] J. Yu,et al. Association of genetic variants in CFTR gene, IVS8 c.1210-12T[5_9] and c.1210-35_1210-12GT[8_12], with spermatogenetic failure: case-control study and meta-analysis. , 2011, Molecular human reproduction.
[12] G. Castaldo,et al. Enhanced frequency of CFTR gene variants in couples who are candidates for assisted reproductive technology treatment , 2011, Clinical chemistry and laboratory medicine.
[13] A. Polyakov,et al. The frequency and spectrum of mutations and the IVS8-T polymorphism of the CFTR gene in Russian infertile men , 2010, Russian Journal of Genetics.
[14] S. Gallati,et al. Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners. , 2009, Reproductive biomedicine online.
[15] J. Gustafson,et al. Cystic Fibrosis , 2009, Journal of the Iowa Medical Society.
[16] H. Chiang,et al. CFTR (TG)m(T)n polymorphism in patients with CBAVD in a population expressing low incidence of cystic fibrosis , 2009, Clinical genetics.
[17] J. Riordan,et al. CFTR function and prospects for therapy. , 2008, Annual review of biochemistry.
[18] H. Gourabi,et al. Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of the vas deferens. , 2006, Molecular human reproduction.
[19] S. Bonache,et al. Molecular evaluation of CFTR sequence variants in male infertility of testicular origin. , 2005, International journal of andrology.
[20] Lee-Jun C Wong,et al. Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens. , 2005, Human reproduction.
[21] Bruno Dallapiccola,et al. Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs , 2005, European Journal of Human Genetics.
[22] M. Sousa,et al. Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens. , 2004, Human reproduction.
[23] J. Cassiman,et al. CFTR mutations and polymorphisms in male infertility. , 2004, International journal of andrology.
[24] G. Cutting,et al. Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping. , 2002, American journal of human genetics.
[25] E. Buratti,et al. Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element* , 2000, The Journal of Biological Chemistry.
[26] E. Buratti,et al. Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9. , 1999, Human molecular genetics.
[27] M Claustres,et al. Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD. , 1998, Journal of medical genetics.
[28] L. Lemaitre,et al. [Correlation of genitourinary abnormalities, spermiogram and CFTR genotype in patients with bilateral agenesis of the vas deferens]. , 1998, Progres en urologie : journal de l'Association francaise d'urologie et de la Societe francaise d'urologie.
[29] M. Goossens,et al. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. , 1998, The Journal of clinical investigation.
[30] C. Ober,et al. Cystic fibrosis mutation screening in healthy men with reduced sperm quality. , 1996, Human reproduction.
[31] Arie,et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. , 1995, The New England journal of medicine.
[32] H. Cuppens,et al. CFTR haplotype backgrounds on normal and mutant CFTR genes. , 1994, Human molecular genetics.
[33] M. Welsh,et al. Mutations in CFTR associated with mild-disease-form CI- channels with altered pore properties , 1993, Nature.
[34] Ronald G. Crystal,et al. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA , 1993, Nature Genetics.
[35] J. Riordan,et al. Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR) , 1992, Cell.
[36] J. Moss,et al. Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium. , 1991, The EMBO journal.
[37] L. Tsui,et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. , 1989, Science.
[38] L. Tsui,et al. Identification of the cystic fibrosis gene: genetic analysis. , 1989, Science.
[39] H. Shwachman,et al. Genital abnormalities in male patients with cystic fibrosis. , 1971, The Journal of urology.
[40] C. Castellani,et al. Cystic fibrosis: a clinical view , 2016, Cellular and Molecular Life Sciences.
[41] Jianmin Yu,et al. CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis. , 2012, Human reproduction.
[42] S. Chamayou,et al. Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility. , 2008, Reproductive biomedicine online.
[43] M. Claustres. Molecular pathology of the CFTR locus in male infertility. , 2005, Reproductive biomedicine online.
[44] Xavier Estivill,et al. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. , 2004, American journal of human genetics.
[45] D. Glavač,et al. Involvement of CFTR gene alterations in obstructive and nonobstructive infertility in men. , 2001, Genetic testing.
[46] P. Patrizio,et al. Expression of the cystic fibrosis transmembrane conductance regulator (CFTR) mRNA in normal and pathological adult human epididymis. , 1998, Journal of reproduction and fertility. Supplement.
[47] J. Zieleński,et al. Cystic fibrosis: genotypic and phenotypic variations. , 1995, Annual review of genetics.