Literature DB >> 7525005

Human genetics. What is good about cystic fibrosis?

P M Quinton1.   

Abstract

The remarkably high level of cystic fibrosis mutations among Caucasians may be due to a reduction in heterozygotes in the severity of the diarrhea caused by enterotoxic bacteria.

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Year:  1994        PMID： 7525005     DOI： 10.1016/s0960-9822(00)00166-4

Source DB:  PubMed          Journal:  Curr Biol        ISSN： 0960-9822            Impact factor:   10.834


  8 in total

1.  Membrane-limited expression and regulation of Na+-H+ exchanger isoforms by P2 receptors in the rat submandibular gland duct.

Authors:  M G Lee; P J Schultheis; M Yan; G E Shull; C Bookstein; E Chang; M Tse; M Donowitz; K Park; S Muallem
Journal:  J Physiol       Date:  1998-12-01       Impact factor: 5.182

2.  Low abundance of sweat duct Cl- channel CFTR in both healthy and cystic fibrosis athletes with exceptionally salty sweat during exercise.

Authors:  Mary Beth Brown; Karla K V Haack; Brian P Pollack; Mindy Millard-Stafford; Nael A McCarty
Journal:  Am J Physiol Regul Integr Comp Physiol       Date:  2011-01-12       Impact factor: 3.619

3.  Active intestinal chloride secretion in human carriers of cystic fibrosis mutations: an evaluation of the hypothesis that heterozygotes have subnormal active intestinal chloride secretion.

Authors:  C Högenauer; C A Santa Ana; J L Porter; M Millard; A Gelfand; R L Rosenblatt; C B Prestidge; J S Fordtran
Journal:  Am J Hum Genet       Date:  2000-10-30       Impact factor: 11.025

Review 4.  Clinical Phenotypes of Cystic Fibrosis Carriers.

Authors:  Philip M Polgreen; Alejandro P Comellas
Journal:  Annu Rev Med       Date:  2022-01-27       Impact factor: 13.739

5.  Targets of balancing selection in the human genome.

Authors:  Aida M Andrés; Melissa J Hubisz; Amit Indap; Dara G Torgerson; Jeremiah D Degenhardt; Adam R Boyko; Ryan N Gutenkunst; Thomas J White; Eric D Green; Carlos D Bustamante; Andrew G Clark; Rasmus Nielsen
Journal:  Mol Biol Evol       Date:  2009-08-27       Impact factor: 16.240

6.  The genetic advantage hypothesis in cystic fibrosis heterozygotes: a murine study.

Authors:  A W Cuthbert; J Halstead; R Ratcliff; W H Colledge; M J Evans
Journal:  J Physiol       Date:  1995-01-15       Impact factor: 5.182

7.  The population genetics of human disease: The case of recessive, lethal mutations.

Authors:  Carlos Eduardo G Amorim; Ziyue Gao; Zachary Baker; José Francisco Diesel; Yuval B Simons; Imran S Haque; Joseph Pickrell; Molly Przeworski
Journal:  PLoS Genet       Date:  2017-09-28       Impact factor: 5.917

8.  Identification and selection of healthy spermatozoa in heterozygous carriers of the Phe508del-variant of the CFTR-gene in assisted reproduction.

Authors:  Julie De Geyter; Sabina Gallati-Kraemer; Hong Zhang; Christian De Geyter
Journal:  Sci Rep       Date:  2022-02-03       Impact factor: 4.996
  8 in total

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