Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of medical genetics - 1 Dec 2009

Huizing M, Pederson B, Hess R A, Griffin A, Helip-Wooley A, Westbroek W, Dorward H, O'Brien K J, Golas G, Tsilou E, White J G, Gahl W A

Abstract excerpt

BACKGROUND: In the last decade, Hermansky-Pudlak syndrome (HPS) has arisen as an instructive disorder for cell biologists to study the biogenesis of lysosome related organelles (LROs). Of the eight human HPS subtypes, only subtypes 1 through 5 are well described. AIM: To characterise extensively the HPS-6 subtype, caused by defects in HPS6, a subunit of the biogenesis of lysosome related organelles complex-2...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Blotting, Northern
Share to DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hermanski-Pudlak Syndrome

Share to Immunohistochemistry

Share to Intracellular Signaling Peptides and Proteins

Share to Melanosomes

Share to Polymerase Chain Reaction

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 19843503
DOI: 10.1136/jmg.2008.065961
PMCID: PMC3500784

Genes

HPS6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.PMID 19843503Read ↗

Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.Semantic proximity Read ↗

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.Semantic proximity Read ↗

Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant.Semantic proximity Read ↗

Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.Semantic proximity Read ↗

Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.Semantic proximity Read ↗

Hypopigmentation in Hermansky-Pudlak syndrome.Semantic proximity Read ↗

A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3).Semantic proximity Read ↗

Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.Semantic proximity Read ↗

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.Semantic proximity Read ↗

A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.Semantic proximity Read ↗

Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.Semantic proximity Read ↗

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.