Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils-Reference-Cited by-同舟云学术

Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils

Published:2017-06-15 Issue:10 Volume:38 Page:1402-1411
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

de Boer Martin¹,van Leeuwen Karin¹,Geissler Judy¹,van Alphen Floris¹,de Vries Esther²,van der Kuip Martijn³,Terheggen Suzanne W.J.⁴,Janssen Hans⁵,van den Berg Timo K.¹,Meijer Alexander B.¹,Roos Dirk¹^ORCID,Kuijpers Taco W.¹⁶

Affiliation:

1. Sanquin Research; and Landsteiner Laboratory; Academic Medical Center (AMC); University of Amsterdam; Amsterdam The Netherlands

2. Department of Pediatrics; Jeroen Bosch Hospital; ‘s-Hertogenbosch; The Netherlands & Tranzo; Tilburg University; Tilburg The Netherlands

3. Department of Pediatric Infectious Diseases and Immunology; VU University Medical Center, Amsterdam, The Netherlands

4. Department of Pediatrics; Erasmus University Medical Center (EMC); Rotterdam The Netherlands

5. Division of Cell Biology; The Netherlands Cancer Institute; Amsterdam The Netherlands

6. Department of Pediatric Hematology; Immunology and Infectious Diseases; Academic Medical Center; Emma Children's Hospital; Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference48 articles.

1. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome;Ammann;Blood,2016

2. Novel insights from adaptor protein 3 complex deficiency;Badolato;Journal of Allergy and Clinical Immunology,2007

3. Ultrastructural localization of Charcot-Leyden crystal protein in human eosinophils and basophils;Calafat;European Journal of Haematology,1997

4. ESEfinder: A web resource to identify exonic splicing enhancers;Cartegni;Nucleic Acids Research,2003

5. Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding;Cetica;Journal of Allergy and Clinical Immunology,2015

Cited by 22 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. Reduced myeloid commitment and increased uptake by macrophages of stem cell–derived HPS2 neutrophils;Life Science Alliance;2024-01-18

2. Congenital neutropenia: From lab bench to clinic bedside and back;Mutation Research/Reviews in Mutation Research;2024-01

3. Hemophagocytic Lymphohistiocytosis Associated with Synergistic Defects of AP3B1 and ATM Genes: A Case Report and Literature Review;Journal of Clinical Medicine;2022-12-22

4. Hermansky-Pudlak Syndrome: Spectrum in Oman;Journal of Pediatric Hematology/Oncology;2022-09-21

5. Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents—A case study;Frontiers in Pediatrics;2022-07-19