Literature DB >> 30985222

Familial Pulmonary Fibrosis and Hermansky-Pudlak Syndrome Rare Missense Mutations in Context.

Robert S Stearman1, Amber R Cornelius2, Lisa R Young3, David S Conklin3, Elizabeth A Mickler1, Xiao Lu4, Naoko Hara5, Lynsey M Fettig5, Tzu L Phang5, Mark W Geraci1.   

Abstract

Entities:  

Year:  2019        PMID： 30985222      PMCID： PMC6835081          DOI： 10.1164/rccm.201902-0457LE

Source DB:  PubMed          Journal:  Am J Respir Crit Care Med        ISSN： 1073-449X            Impact factor:   21.405


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  7 in total

1.  Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.

Authors:  J Oh; T Bailin; K Fukai; G H Feng; L Ho; J I Mao; E Frenk; N Tamura; R A Spritz
Journal:  Nat Genet       Date:  1996-11       Impact factor: 38.330

Review 2.  Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.

Authors:  Glenn W Vicary; Yeidyly Vergne; Alberto Santiago-Cornier; Lisa R Young; Jesse Roman
Journal:  Ann Am Thorac Soc       Date:  2016-10

3.  BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.

Authors:  José A Martina; Kengo Moriyama; Juan S Bonifacino
Journal:  J Biol Chem       Date:  2003-05-19       Impact factor: 5.157

4.  A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).

Authors:  Carmelo Carmona-Rivera; Dimitre R Simeonov; Nicholas D Cardillo; William A Gahl; Carmen L Cadilla
Journal:  Biochim Biophys Acta       Date:  2012-10-23

5.  BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.

Authors:  Andreas Gerondopoulos; Lars Langemeyer; Jin-Rui Liang; Andrea Linford; Francis A Barr
Journal:  Curr Biol       Date:  2012-10-18       Impact factor: 10.834

Review 6.  Genetic studies provide clues on the pathogenesis of idiopathic pulmonary fibrosis.

Authors:  Jonathan A Kropski; William E Lawson; Lisa R Young; Timothy S Blackwell
Journal:  Dis Model Mech       Date:  2013-01       Impact factor: 5.758

7.  Probability of phenotypically detectable protein damage by ENU-induced mutations in the Mutagenetix database.

Authors:  Tao Wang; Chun Hui Bu; Sara Hildebrand; Gaoxiang Jia; Owen M Siggs; Stephen Lyon; David Pratt; Lindsay Scott; Jamie Russell; Sara Ludwig; Anne R Murray; Eva Marie Y Moresco; Bruce Beutler
Journal:  Nat Commun       Date:  2018-01-30       Impact factor: 14.919
  7 in total
  3 in total

Review 1.  Update in Interstitial Lung Disease 2019.

Authors:  Sydney B Montesi; Jolene H Fisher; Fernando J Martinez; Moisés Selman; Annie Pardo; Kerri A Johannson
Journal:  Am J Respir Crit Care Med       Date:  2020-08-15       Impact factor: 21.405

Review 2.  Insights into the Pathogenesis of Pulmonary Fibrosis from Genetic Diseases.

Authors:  Joanna Y Wang; Lisa R Young
Journal:  Am J Respir Cell Mol Biol       Date:  2022-07       Impact factor: 7.748

3.  Hermansky-Pudlak syndrome: Mutation update.

Authors:  Marjan Huizing; May C V Malicdan; Jennifer A Wang; Hadass Pri-Chen; Richard A Hess; Roxanne Fischer; Kevin J O'Brien; Melissa A Merideth; William A Gahl; Bernadette R Gochuico
Journal:  Hum Mutat       Date:  2020-01-23       Impact factor: 4.700
  3 in total

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