Literature DB >> 31686723

New Horizons in Correction of Mutated ATP7B in Wilson Disease Using Pharmacological Agents: Precise Medicine.

Rajendra Prasad1.   

Abstract

Entities:  

Year:  2019        PMID： 31686723      PMCID： PMC6801272          DOI： 10.1007/s12291-019-00855-8

Source DB:  PubMed          Journal:  Indian J Clin Biochem        ISSN： 0970-1915


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  11 in total

Review 1.  Wilson disease.

Authors:  Jonathan D Gitlin
Journal:  Gastroenterology       Date:  2003-12       Impact factor: 22.682

2.  Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.

Authors:  S Kumar; B R Thapa; G Kaur; R Prasad
Journal:  Clin Genet       Date:  2005-05       Impact factor: 4.438

Review 3.  Wilson disease--a practical approach to diagnosis, treatment and follow-up.

Authors:  V Medici; L Rossaro; G C Sturniolo
Journal:  Dig Liver Dis       Date:  2007-03-26       Impact factor: 4.088

4.  Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications.

Authors:  Niti Kumari; Aman Kumar; Babu Ram Thapa; Manish Modi; Arnab Pal; Rajendra Prasad
Journal:  Hum Mutat       Date:  2018-09-16       Impact factor: 4.878

5.  Hepatocyte-specific localization and copper-dependent trafficking of the Wilson's disease protein in the liver.

Authors:  M Schaefer; R G Hopkins; M L Failla; J D Gitlin
Journal:  Am J Physiol       Date:  1999-03

6.  The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.

Authors:  P C Bull; G R Thomas; J M Rommens; J R Forbes; D W Cox
Journal:  Nat Genet       Date:  1993-12       Impact factor: 38.330

7.  Modulation of deltaF508 cystic fibrosis transmembrane regulator trafficking and function with 4-phenylbutyrate and flavonoids.

Authors:  Meerana Lim; Karen McKenzie; Alexandra D Floyd; Edwin Kwon; Pamela L Zeitlin
Journal:  Am J Respir Cell Mol Biol       Date:  2004-06-10       Impact factor: 6.914

8.  A genetic study of Wilson's disease in the United Kingdom.

Authors:  Alison J Coffey; Miranda Durkie; Stephen Hague; Kirsten McLay; Jennifer Emmerson; Christine Lo; Stefanie Klaffke; Christopher J Joyce; Anil Dhawan; Nedim Hadzic; Giorgina Mieli-Vergani; Richard Kirk; K Elizabeth Allen; David Nicholl; Siew Wong; William Griffiths; Sarah Smithson; Nicola Giffin; Ali Taha; Sally Connolly; Godfrey T Gillett; Stuart Tanner; Jim Bonham; Basil Sharrack; Aarno Palotie; Magnus Rattray; Ann Dalton; Oliver Bandmann
Journal:  Brain       Date:  2013-03-21       Impact factor: 13.501

9.  The Wilson disease gene: spectrum of mutations and their consequences.

Authors:  G R Thomas; J R Forbes; E A Roberts; J M Walshe; D W Cox
Journal:  Nat Genet       Date:  1995-02       Impact factor: 38.330

10.  The global prevalence of Wilson disease from next-generation sequencing data.

Authors:  Jiali Gao; Simon Brackley; Jake P Mann
Journal:  Genet Med       Date:  2018-09-26       Impact factor: 8.822
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