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Literature DB >> 19587741

Human genetics: One gene, twenty years.

Helen Pearson.

Abstract

Entities: Species

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Year: 2009 PMID： 19587741 DOI： 10.1038/460164a

Source DB: PubMed Journal: Nature ISSN： 0028-0836 Impact factor: 49.962

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18 in total

1. Lamin a truncation in Hutchinson-Gilford progeria.

Authors: Annachiara De Sandre-Giovannoli; Rafaëlle Bernard; Pierre Cau; Claire Navarro; Jeanne Amiel; Irène Boccaccio; Stanislas Lyonnet; Colin L Stewart; Arnold Munnich; Martine Le Merrer; Nicolas Lévy
Journal: Science Date: 2003-04-17 Impact factor: 47.728

2. A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7.

Authors: R G Knowlton; O Cohen-Haguenauer; N Van Cong; J Frézal; V A Brown; D Barker; J C Braman; J W Schumm; L C Tsui; M Buchwald
Journal: Nature Date: 1985 Nov 28-Dec 4 Impact factor: 49.962

3. Cystic fibrosis: steady steps lead to the gene.

Authors: P N Goodfellow
Journal: Nature Date: 1989-09-14 Impact factor: 49.962

4. Directional cloning of DNA fragments at a large distance from an initial probe: a circularization method.

Authors: F S Collins; S M Weissman
Journal: Proc Natl Acad Sci U S A Date: 1984-11 Impact factor: 11.205

5. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

Authors: J R Riordan; J M Rommens; B Kerem; N Alon; R Rozmahel; Z Grzelczak; J Zielenski; S Lok; N Plavsic; J L Chou
Journal: Science Date: 1989-09-08 Impact factor: 47.728

6. Expression of the cystic fibrosis gene in non-epithelial invertebrate cells produces a regulated anion conductance.

Authors: N Kartner; J W Hanrahan; T J Jensen; A L Naismith; S Z Sun; C A Ackerley; E F Reyes; L C Tsui; J M Rommens; C E Bear
Journal: Cell Date: 1991-02-22 Impact factor: 41.582

7. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

Authors: Maria Eriksson; W Ted Brown; Leslie B Gordon; Michael W Glynn; Joel Singer; Laura Scott; Michael R Erdos; Christiane M Robbins; Tracy Y Moses; Peter Berglund; Amalia Dutra; Evgenia Pak; Sandra Durkin; Antonei B Csoka; Michael Boehnke; Thomas W Glover; Francis S Collins
Journal: Nature Date: 2003-04-25 Impact factor: 49.962

8. Chloride impermeability in cystic fibrosis.

Authors: P M Quinton
Journal: Nature Date: 1983-02-03 Impact factor: 49.962

9. Identification of the cystic fibrosis gene: chromosome walking and jumping.

Authors: J M Rommens; M C Iannuzzi; B Kerem; M L Drumm; G Melmer; M Dean; R Rozmahel; J L Cole; D Kennedy; N Hidaka
Journal: Science Date: 1989-09-08 Impact factor: 47.728

10. Localization of cystic fibrosis locus to human chromosome 7cen-q22.

Authors: B J Wainwright; P J Scambler; J Schmidtke; E A Watson; H Y Law; M Farrall; H J Cooke; H Eiberg; R Williamson
Journal: Nature Date: 1985 Nov 28-Dec 4 Impact factor: 49.962

14 in total

Review 1. Gene therapy: light is finally in the tunnel.

Authors: Huibi Cao; Robert S Molday; Jim Hu
Journal: Protein Cell Date: 2012-01-10 Impact factor: 14.870

Review 2. Giant sucking sound: can physiology fill the intellectual void left by the reductionists?

Authors: Michael J Joyner
Journal: J Appl Physiol (1985) Date: 2011-06-02

Review 3. Ten questions about systems biology.

Authors: Michael J Joyner; Bente K Pedersen
Journal: J Physiol Date: 2011-01-04 Impact factor: 5.182

Human genetics: One gene, twenty years.

1. Lamin a truncation in Hutchinson-Gilford progeria.

2. A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7.

3. Cystic fibrosis: steady steps lead to the gene.

4. Directional cloning of DNA fragments at a large distance from an initial probe: a circularization method.

5. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

6. Expression of the cystic fibrosis gene in non-epithelial invertebrate cells produces a regulated anion conductance.

7. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

8. Chloride impermeability in cystic fibrosis.

9. Identification of the cystic fibrosis gene: chromosome walking and jumping.

10. Localization of cystic fibrosis locus to human chromosome 7cen-q22.

Review 1. Gene therapy: light is finally in the tunnel.

Review 2. Giant sucking sound: can physiology fill the intellectual void left by the reductionists?

Review 3. Ten questions about systems biology.

4. Nasospheroids permit measurements of CFTR-dependent fluid transport.

Review 5. Impact of gene editing on the study of cystic fibrosis.

Review 6. Genetic essentialism: on the deceptive determinism of DNA.

7. DNA Methylation-Mediated Low Expression of CFTR Stimulates the Progression of Lung Adenocarcinoma.

8. Gene by neuroticism interaction and cognitive function among older adults.

9. CFTR is a potential marker for nasopharyngeal carcinoma prognosis and metastasis.

10. Understanding and using quantitative genetic variation.