Literature DB >> 26575419

Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population.

Sairah Yousaf1,2, Mohsin Shahzad1, Tasleem Kausar2, Shakeel A Sheikh3, Nabeela Tariq2, Asra S Shabbir4, Muhammad Ali5, Ali M Waryah3, Rehan S Shaikh2, Saima Riazuddin1, Zubair M Ahmed1.   

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Year:  2015        PMID： 26575419      PMCID： PMC5062593          DOI： 10.1111/pcmr.12438

Source DB:  PubMed          Journal:  Pigment Cell Melanoma Res        ISSN： 1755-1471            Impact factor:   4.693


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  14 in total

Review 1.  The building BLOC(k)s of lysosomes and related organelles.

Authors:  Esteban C Dell'Angelica
Journal:  Curr Opin Cell Biol       Date:  2004-08       Impact factor: 8.382

Review 2.  Genetics of pigmentary disorders.

Authors:  Yasushi Tomita; Tamio Suzuki
Journal:  Am J Med Genet C Semin Med Genet       Date:  2004-11-15       Impact factor: 3.908

3.  Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.

Authors:  Raffaele Badolato; Alberto Prandini; Sonia Caracciolo; Francesca Colombo; Giovanna Tabellini; Mauro Giacomelli; Maria E Cantarini; Andrea Pession; Callum J Bell; Darrell L Dinwiddie; Neil A Miller; Shannon L Hateley; Carol J Saunders; Lu Zhang; Gary P Schroth; Alessandro Plebani; Silvia Parolini; Stephen F Kingsmore
Journal:  Blood       Date:  2012-03-29       Impact factor: 22.113

4.  A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.

Authors:  Andrew R Cullinane; James A Curry; Carmelo Carmona-Rivera; C Gail Summers; Carla Ciccone; Nicholas D Cardillo; Heidi Dorward; Richard A Hess; James G White; David Adams; Marjan Huizing; William A Gahl
Journal:  Am J Hum Genet       Date:  2011-06-10       Impact factor: 11.025

Review 5.  Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.

Authors:  Maria L Wei
Journal:  Pigment Cell Res       Date:  2006-02

6.  Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.

Authors:  Paul D Anderson; Marjan Huizing; David A Claassen; James White; William A Gahl
Journal:  Hum Genet       Date:  2003-03-27       Impact factor: 4.132

7.  Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.

Authors:  E C Dell'Angelica; V Shotelersuk; R C Aguilar; W A Gahl; J S Bonifacino
Journal:  Mol Cell       Date:  1999-01       Impact factor: 17.970

8.  Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.

Authors:  M Huizing; B Pederson; R A Hess; A Griffin; A Helip-Wooley; W Westbroek; H Dorward; K J O'Brien; G Golas; E Tsilou; J G White; W A Gahl
Journal:  J Med Genet       Date:  2009-10-20       Impact factor: 6.318

Review 9.  Hypopigmentation in Hermansky-Pudlak syndrome.

Authors:  Ai-Hua Wei; Xin He; Wei Li
Journal:  J Dermatol       Date:  2013-05       Impact factor: 4.005

10.  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
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  9 in total

Review 1.  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

2.  Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

Authors:  Melanie M Bryan; Nathanial J Tolman; Karen L Simon; Marjan Huizing; Robert B Hufnagel; Brian P Brooks; Vladislav Speransky; James C Mullikin; William A Gahl; May Christine V Malicdan; Bernadette R Gochuico
Journal:  Mol Genet Metab       Date:  2017-02-27       Impact factor: 4.797

Review 3.  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

4.  Sex-dimorphic effects of biogenesis of lysosome-related organelles complex-1 deficiency on mouse perinatal brain development.

Authors:  Frank Y Lee; Jennifer Larimore; Victor Faundez; Esteban C Dell'Angelica; Cristina A Ghiani
Journal:  J Neurosci Res       Date:  2020-05-20       Impact factor: 4.433

5.  Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Authors:  Mohsin Shahzad; Sairah Yousaf; Yar M Waryah; Hadia Gul; Tasleem Kausar; Nabeela Tariq; Umair Mahmood; Muhammad Ali; Muzammil A Khan; Ali M Waryah; Rehan S Shaikh; Saima Riazuddin; Zubair M Ahmed
Journal:  Sci Rep       Date:  2017-03-07       Impact factor: 4.379

6.  Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report.

Authors:  Martina Doubková; Jakub Trizuljak; Zuzana Vrzalová; Anna Hrazdirová; Ivona Blaháková; Lenka Radová; Šárka Pospíšilová; Michael Doubek
Journal:  BMC Pulm Med       Date:  2019-10-16       Impact factor: 3.317

7.  A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China.

Authors:  Wenjuan Wu; Keqin Lin; Yanni Yang; ZhaoXing Dong; Tao Zhang; Wen Lei; Weimin Yang; Zhaoqing Yang
Journal:  Medicine (Baltimore)       Date:  2019-08       Impact factor: 1.817

Review 8.  A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.

Authors:  Doris Boeckelmann; Mira Wolter; Barbara Käsmann-Kellner; Udo Koehler; Lea Schieber-Nakamura; Barbara Zieger
Journal:  Cells       Date:  2021-10-01       Impact factor: 6.600

9.  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
  9 in total

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