Literature DB >> 10759101

A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation.

V Shotelersuk1, E C Dell'Angelica, L Hartnell, J S Bonifacino, W A Gahl.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2000        PMID： 10759101     DOI： 10.1016/s0002-9343(99)00436-2

Source DB:  PubMed          Journal:  Am J Med        ISSN： 0002-9343            Impact factor:   4.965


× No keyword cloud information.
  37 in total

1.  A case of hermansky-pudlak syndrome with pulmonary sarcoidosis.

Authors:  Lisa Gruson; Thomas Berk
Journal:  J Clin Aesthet Dermatol       Date:  2009-10

2.  Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease.

Authors:  Bernadette R Gochuico; Marjan Huizing; Gretchen A Golas; Charles D Scher; Maria Tsokos; Stacey D Denver; Melissa J Frei-Jones; William A Gahl
Journal:  Mol Med       Date:  2012-02-10       Impact factor: 6.354

Review 3.  Molecular defects that affect platelet dense granules.

Authors:  Meral Gunay-Aygun; Marjan Huizing; William A Gahl
Journal:  Semin Thromb Hemost       Date:  2004-10       Impact factor: 4.180

4.  Susceptibility of Hermansky-Pudlak mice to bleomycin-induced type II cell apoptosis and fibrosis.

Authors:  Lisa R Young; Rajamouli Pasula; Peter M Gulleman; Gail H Deutsch; Francis X McCormack
Journal:  Am J Respir Cell Mol Biol       Date:  2007-03-15       Impact factor: 6.914

5.  Oculocutaneous albinism accompanied by minor morphologic stigmata and reduced number and function of NK cells. A new variant of NK cell defect?

Authors:  Susanne Reich; Rolf Keitzer; Reinhold E Schmidt; Roland Jacobs; Verena Varnholt; Dietke Buck; Ralf Herold; Harald Renz
Journal:  Eur J Pediatr       Date:  2008-01-17       Impact factor: 3.183

Review 6.  The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.

Authors:  Shanna L Bowman; Jing Bi-Karchin; Linh Le; Michael S Marks
Journal:  Traffic       Date:  2019-06       Impact factor: 6.215

7.  Hermansky-Pudlak syndrome: infrequent bleeding and first report of Turkish and Pakistani kindreds.

Authors:  C Harrison; K Khair; B Baxter; I Russell-Eggitt; I Hann; R Liesner
Journal:  Arch Dis Child       Date:  2002-04       Impact factor: 3.791

Review 8.  Genetic insights into congenital neutropenia.

Authors:  Christoph Klein; Karl Welte
Journal:  Clin Rev Allergy Immunol       Date:  2010-02       Impact factor: 8.667

9.  Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2.

Authors:  Johannes Jung; Georg Bohn; Anna Allroth; Kaan Boztug; Gudrun Brandes; Inga Sandrock; Alejandro A Schäffer; Chozhavendan Rathinam; Inga Köllner; Carmela Beger; Reinhard Schilke; Karl Welte; Bodo Grimbacher; Christoph Klein
Journal:  Blood       Date:  2006-03-14       Impact factor: 22.113

10.  The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome.

Authors:  Lisa R Young; Peter M Gulleman; James P Bridges; Timothy E Weaver; Gail H Deutsch; Timothy S Blackwell; Francis X McCormack
Journal:  Am J Respir Crit Care Med       Date:  2012-10-04       Impact factor: 21.405
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.