Associated Papers
Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.
Lu Y et al.
Asian Journal of Andrology, 2025
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
36834620 (PubMed )
Supplement: ijms-24-03211-s001.zip › ijms-2071953-supplementary.pdf
Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.
Qu X et al.
Scientific Reports, 2023
36604502 (PubMed )
Supplement: 41598_2022_26384_MOESM1_ESM.xlsx › clinical_information
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
Frequency of allele variations in the CFTR gene in a Mexican population.
Cantú-Reyna C et al.
Bmc Medical Genomics, 2021
34740355 (PubMed )
Supplement: 12920_2021_1111_MOESM1_ESM.xlsx › Hoja1
Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis.
Sanders M et al.
Human Genetics, 2021
Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.
de Souza DAS et al.
Andrology, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_CFTR
Re: Lu et al.: Different cystic fibrosis transmembrane conductance regulator mutations in Chinese men with congenital bilateral absence of the vas deferens and other acquired obstructive azoospermia (Urology 2013;82:824-828).
Havasi V
Urology, 2014
Different cystic fibrosis transmembrane conductance regulator mutations in Chinese men with congenital bilateral absence of vas deferens and other acquired obstructive azoospermia.
Lu S et al.
Urology, 2013
Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis.
Jang MA et al.
Journal of Human Genetics, 2013
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens.
Li H et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2012
Ligand-driven vectorial folding of ribosome-bound human CFTR NBD1.
Khushoo A et al.
Molecular Cell, 2011
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Chen JM et al.
Molecular Biology and Evolution, 2001
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