Literature DB >> 20981699

Novel mutation causing Hermansky-Pudlak Syndrome Type 2.

Pei-Wen Chiang, Elaine Spector, Martha Thomas, Melissa Frei-Jones.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2010        PMID： 20981699     DOI： 10.1002/pbc.22793

Source DB:  PubMed          Journal:  Pediatr Blood Cancer        ISSN： 1545-5009            Impact factor:   3.167


× No keyword cloud information.
  8 in total

1.  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 2.  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

3.  Defective HIV-1 particle assembly in AP-3-deficient cells derived from patients with Hermansky-Pudlak syndrome type 2.

Authors:  Ling Liu; Jessica Sutton; Elvin Woodruff; Fernando Villalta; Paul Spearman; Xinhong Dong
Journal:  J Virol       Date:  2012-08-08       Impact factor: 5.103

Review 4.  ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.

Authors:  Marshall S Horwitz; Seth J Corey; H Leighton Grimes; Timothy Tidwell
Journal:  Hematol Oncol Clin North Am       Date:  2012-11-07       Impact factor: 3.722

5.  The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.

Authors:  Birthe Jessen; Sebastian F N Bode; Sandra Ammann; Subarna Chakravorty; Graham Davies; Jana Diestelhorst; Melissa Frei-Jones; William A Gahl; Bernadette R Gochuico; Matthias Griese; Gillian Griffiths; Gritta Janka; Christoph Klein; Tamara Kögl; Karin Kurnik; Kai Lehmberg; Andrea Maul-Pavicic; Andrew D Mumford; David Pace; Nima Parvaneh; Nima Rezaei; Geneviève de Saint Basile; Annette Schmitt-Graeff; Klaus Schwarz; Gulsun T Karasu; Barbara Zieger; Udo Zur Stadt; Peter Aichele; Stephan Ehl
Journal:  Blood       Date:  2013-02-12       Impact factor: 22.113

6.  Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study.

Authors:  Jun Chen; Yifan Yang; Binjie Liu; Xiaoli Xie; Wenjie Li
Journal:  Front Pediatr       Date:  2022-07-19       Impact factor: 3.569

7.  Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2.

Authors:  Matthew L Jones; Sherina L Murden; Claire Brooks; Viv Maloney; Richard A Manning; Kimberly C Gilmour; Vandana Bharadwaj; Josu de la Fuente; Subarna Chakravorty; Andrew D Mumford
Journal:  BMC Med Genet       Date:  2013-04-04       Impact factor: 2.103

8.  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
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.