Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS-Reference-Cited by-同舟云学术

Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS

Published:2017-01 Issue:6 Volume:30 Page:563-570
ISSN:1755-1471
Container-title:Pigment Cell & Melanoma Research
language:en
Short-container-title:Pigment Cell Melanoma Res.

Author:

Michaud Vincent¹,Lasseaux Eulalie¹,Plaisant Claudio¹,Verloes Alain²,Perdomo-Trujillo Yaumara³,Hamel Christian⁴,Elcioglu Nursel H.⁵⁶,Leroy Bart⁷,Kaplan Josseline⁸,Jouk Pierre-Simon⁹,Lacombe Didier¹¹⁰,Fergelot Patricia¹¹⁰,Morice-Picard Fanny¹¹¹,Arveiler Benoit¹¹⁰

Affiliation:

1. Service Génétique Médicale; CHU de Bordeaux; Bordeaux France

2. Département de Génétique; Hôpital Robert Debré; Paris France

3. Affections Rares en Génétique Ophtalmologique; CHU de Strasbourg; Strasbourg France

4. Service d'Ophtalmologie; CHU de Montpellier; Montpellier France

5. Department of Pediatric Genetics; Marmara University Medical School; Istanbul Turkey

6. Eastern Mediterranean University Medical School; Cyprus Turkey

7. Center for Medical Genetics; Ghent University Hospital; Gent Belgium

8. Laboratoire Génétique Moléculaire; Hôpital Necker-Enfants Malades; Paris France

9. Service Génétique Clinique; CHU de Grenoble Site La Tronche; Hôpital Couple Enfant; Grenoble France

10. Unité INSERM U1211; Maladies Rares: Génétique et Métabolisme; Bordeaux France

11. Service de Dermatologie Pédiatrique; Centre de Référence Maladies Rares de la Peau; CHU de Bordeaux; Bordeaux France

Publisher

Wiley

Subject

Dermatology,General Biochemistry, Genetics and Molecular Biology,Oncology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pcmr.12608/fullpdf

Reference24 articles.

1. Clinical, molecular and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent;Carmona-Rivera;Journal of Investigative Dermatology,2011

2. The building BLOC(k)s of lysosomes and related organelles;Dell'Angelica;Current Opinion in Cell Biology,2004

3. BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery;Dennis;Journal of Cell Biology,2015

4. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6;Di Pietro;Traffic,2004

5. The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2);Gautam;Journal of Biological Chemistry,2004

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Overlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders;Cells;2022-11-21

2. The retinal pigmentation pathway in human albinism: Not so black and white;Progress in Retinal and Eye Research;2022-11

3. Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7);Frontiers in Pharmacology;2022-01-19

4. Current landscape of Oculocutaneous Albinism in Japan;Pigment Cell & Melanoma Research;2020-10-07

5. Identification of two novel mutations in a Japanese patient with Hermansky–Pudlak syndrome type 5;The Journal of Dermatology;2020-09-02