scholarly journals Cystic fibrosis gene mutations and pancreatitis risk: Relation to epithelial ion transport and trypsin inhibitor gene mutations

2001 ◽  
Vol 121 (6) ◽  
pp. 1310-1319 ◽  
Author(s):  
Peadar G. Noone ◽  
Zhaoqing Zhou ◽  
Lawrence M. Silverman ◽  
Paul S. Jowell ◽  
Michael R. Knowles ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Ion Transport ◽  
Trypsin Inhibitor ◽  
Gene Mutations ◽  
Cystic Fibrosis Gene ◽  
Epithelial Ion Transport ◽  
Inhibitor Gene

scholarly journals Resolvin D1 regulates epithelial ion transport and inflammation in cystic fibrosis airways

2018 ◽  
Vol 17 (5) ◽  
pp. 607-615 ◽  
Author(s):  
Fiona C. Ringholz ◽  
Gerard Higgins ◽  
Aurélie Hatton ◽  
Ali Sassi ◽  
Ahmad Moukachar ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Ion Transport ◽  
Resolvin D1 ◽  
Epithelial Ion Transport

CONGENITAL ABSENCE OF THE VAS DEFERENS: INCOMPLETE PENETRANCE OF CYSTIC FIBROSIS GENE MUTATIONS

1997 ◽  
Vol 158 (5) ◽  
pp. 1794-1799 ◽  
Author(s):  
David Shin ◽  
Fred Gilbert ◽  
Marc Goldstein ◽  
Peter N. Schlegel
Keyword(s):  
Cystic Fibrosis ◽  
Vas Deferens ◽  
Gene Mutations ◽  
Congenital Absence ◽  
Cystic Fibrosis Gene ◽  
Incomplete Penetrance

scholarly journals Cystic fibrosis gene mutations and polymorphisms in Saudi men with infertility

2020 ◽  
Vol 40 (4) ◽  
pp. 321-329
Author(s):  
Talal AlMaghamsi ◽  
Naeem Iqbal ◽  
Nabil Abdullrahman Al-Esaei ◽  
Muhsina Mohammed ◽  
Kamel Zein Eddin ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Sample Size ◽  
Conflicts Of Interest ◽  
Direct Sequencing ◽  
Tertiary Care ◽  
Gene Mutations ◽  
Small Sample ◽  
Cystic Fibrosis Gene ◽  
Control Group ◽  
Primary Infertility

ABSTRACT BACKGROUND: Some mutations of the cystic fibrosis transmembrane regulator ( CFTR ) gene may impair spermatogenesis or cause a congenital absence of the vas deferens that manifests as isolated male infertility. OBJECTIVE: Assess the frequency and analyze the spectrum of CFTR gene variations in Saudi men with primary infertility. DESIGN: Prospective, cross-sectional. SETTING: Tertiary care specialist hospital in Jeddah. PATIENTS AND METHODS: Genomic DNA was extracted from peripheral blood samples of Saudi men who presented with primary infertility to the outpatient andrology clinic with either azoospermia or oligoasthenoteratozoospermia. Polymerase chain reaction and direct sequencing were used to identify all variants of the CFTR gene. MAIN OUTCOME MEASURES: Proportion of the patients with a mutant CFTR gene and the spectrum of CFTR gene variations. SAMPLE SIZE: 50 infertile Saudi men. RESULTS: This study identified 10 CFTR gene variants in 7 (14%) subjects (100 chromosomes). The detected variants and polymorphisms were: c.1408G>A, c.4389G>A, c.2562T>G, c.869+11C>T, c.2909-92G>A, c.3469-65C>A, c.1210-6delT, c.1210-6T>A, c.2988+1G>A, and c.1210-13GT>TG. CONCLUSION: We demonstrated that 14% of the study subjects had one or more CFTR mutations and these were compounded in most of the affected patients. The spectrum of CFTR gene mutations in these subjects was similar to the mutations reported in other studies throughout the world. LIMITATIONS: Small sample size and the lack of a control group. CONFLICTS OF INTEREST: None.

scholarly journals Cystic fibrosis gene mutations and gastrointestinal diseases

2010 ◽  
Vol 9 (4) ◽  
pp. 288-291 ◽  
Author(s):  
Shahram Bahmanyar ◽  
Anders Ekbom ◽  
Johan Askling ◽  
Marie Johannesson ◽  
Scott M. Montgomery
Keyword(s):  
Cystic Fibrosis ◽  
Gene Mutations ◽  
Gastrointestinal Diseases ◽  
Cystic Fibrosis Gene

Ion transport characteristics of the murine trachea and caecum

1992 ◽  
Vol 82 (6) ◽  
pp. 667-672 ◽  
Author(s):  
S. N. Smith ◽  
E. W. F. W. Alton ◽  
D. M. Geddes
Keyword(s):  
Cystic Fibrosis ◽  
Ion Transport ◽  
Short Circuit ◽  
Short Circuit Current ◽  
Chloride Secretion ◽  
Open Circuit ◽  
Potential Difference ◽  
Cystic Fibrosis Gene ◽  
Tissue Type ◽  
Ussing Chambers

1. The basic defect in cystic fibrosis relates to abnormalities of ion transport in affected tissues, such as the respiratory and gastrointestinal tracts. The identification of the cystic fibrosis gene has enabled studies on the production of a cystic fibrosis transgenic mouse to be undertaken. Knowledge of normal ion transport will be necessary for the validation of any such animal model. We have therefore characterized selected responses of the murine trachea and caecum mounted in ‘mini’ Ussing chambers under open-circuit conditions. 2. Basal values for the trachea were: potential difference, 1.1 mV (sem 0.2; n=18); equivalent short-circuit current, 20.4 μA/cm2 (3.6); conductance, 18.2 mS/cm2 (1.7). Corresponding values for the caecum were: potential difference, 0.7 mV (0.1; n=18); equivalent short-circuit current, 11.0 μA/cm2 (1.6); conductance, 14.5 mS/cm2 (1.4). 3. Amiloride (10 μmol/l) produced a significant (P < 0.001) fall in potential difference of 43.0% (5.7) in the trachea, but had no significant effect in the caecum. 4. Subsequently, one of three protocols was used to assess the capacity of either tissue for chloride secretion. Addition of a combination of forskolin (1 μmol/l) and zardaverine (10 μmol/l) produced rises in the potential difference of 873% (509) in the trachea and 399% (202) in the caecum. Both A23187 (10 μmol/l) and phorbol dibutyrate (10 nmol/l) increased tracheal potential difference by 350% (182) and 147% (47), respectively. Neither had a significant effect in the caecum. 5. Subsequent addition of bumetanide caused a fall in the stimulated potential difference of between 39.8% and 71.7%, depending on secretagogue and tissue type. 6. When a homozygous transgenic cystic fibrosis mouse becomes available, these responses should allow such an animal to be distinguished from normal or heterozygous mice.

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