Hermansky–Pudlak syndrome: a disease of protein trafficking and organelle function

ML Wei - Pigment cell research, 2006 - Wiley Online Library
Summary The Hermansky–Pudlak syndrome (HPS) is a collection of related autosomal
recessive disorders which are genetically heterogeneous. There are eight human HPS …

Tissue remodelling in pulmonary fibrosis

L Knudsen, C Ruppert, M Ochs - Cell and tissue research, 2017 - Springer
Many lung diseases result in fibrotic remodelling. Fibrotic lung disorders can be divided into
diseases with known and unknown aetiology. Among those with unknown aetiology …

Lung volumes and emphysema in smokers with interstitial lung abnormalities

GR Washko, GM Hunninghake… - … England Journal of …, 2011 - Mass Medical Soc
Background Cigarette smoking is associated with emphysema and radiographic interstitial
lung abnormalities. The degree to which interstitial lung abnormalities are associated with …

Progressive preclinical interstitial lung disease in rheumatoid arthritis

BR Gochuico, NA Avila, CK Chow… - Archives of internal …, 2008 - jamanetwork.com
Background Early detection and treatment for interstitial lung disease (ILD) in patients with
rheumatoid arthritis (RA) may ameliorate disease progression. The objective of this study …

[HTML][HTML] Proteomic analysis of platelet α‐granules using mass spectrometry

DM Maynard, HFG Heijnen, MK Horne, JG White… - Journal of thrombosis …, 2007 - Elsevier
Background: Platelets have three major types of secretory organelles: lysosomes, dense
granules, and α‐granules. α‐Granules contain several adhesive proteins involved in …

Precise therapeutic gene correction by a simple nuclease-induced double-stranded break

S Iyer, S Suresh, D Guo, K Daman, JCJ Chen, P Liu… - Nature, 2019 - nature.com
Current programmable nuclease-based methods (for example, CRISPR–Cas9) for the
precise correction of a disease-causing genetic mutation harness the homology-directed …

Hermansky–Pudlak syndrome: mutation update

M Huizing, MCV Malicdan, JA Wang… - Human …, 2020 - Wiley Online Library
Hermansky–Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem
disorders, each defined by the deficiency of a specific gene. HPS‐associated genes encode …

Genetic studies provide clues on the pathogenesis of idiopathic pulmonary fibrosis

JA Kropski, WE Lawson, LR Young… - Disease models & …, 2013 - journals.biologists.com
Idiopathic pulmonary fibrosis (IPF) is a progressive and often fatal lung disease for which
there is no known treatment. Although the traditional paradigm of IPF pathogenesis …

Disorders of lung matrix remodeling

HA Chapman - The Journal of clinical investigation, 2004 - Am Soc Clin Investig
A set of lung diseases share the tendency for the development of progressive fibrosis
ultimately leading to respiratory failure. This review examines the common pathogenetic …

Pulmonary fibrosis in Hermansky–Pudlak syndrome

GW Vicary, Y Vergne, A Santiago-Cornier… - Annals of the …, 2016 - atsjournals.org
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder
characterized by oculocutaneous albinism and a bleeding diathesis due to platelet …