Results 91 to 100 of about 4,782 (148)

Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1

Haematologica, 2010
Hermansky Pudlak syndrome type 2 (HPS2) is a rare disorder associated with mutations in the Adaptor Protein 3 (AP-3) complex, which is involved in sorting transmembrane proteins to lysosomes and related organelles. We now report 2 unrelated subjects with
Matt Wenham, Samantha Grieve, Michelle Cummins, Matthew L. Jones, Sarah Booth, Rachel Kilner, Philip J. Ancliff, Gillian M. Griffiths, Andrew D. Mumford   +8 more
doaj   +1 more source

The Tip of the Iceberg: Cutaneous Manifestations of Paediatric Diseases with Neurological Involvement [PDF]

, 2015
Introdução: Algumas alterações cutâneas podem ser as primeiras manifestações clínicas de diversas entidades nosológicas com atingimento sistémico. O presente trabalho tem como objectivo rever a semiologia dermatológica relevante no contexto das doenças ...
Afonso, P, Brasileiro, A, Diamantino, F, Paiva Lopes, MJ   +3 more
core  

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

BMC Pulmonary Medicine, 2019
Background Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diathesis, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes.
Martina Doubková, Jakub Trizuljak, Zuzana Vrzalová, Anna Hrazdirová, Ivona Blaháková, Lenka Radová, Šárka Pospíšilová, Michael Doubek   +7 more
doaj   +1 more source

Abstract

JPGN Reports, Volume 6, Issue S2, Page S1-S814, September 2025.
wiley   +1 more source

Idiopathic pulmonary fibrosis [PDF]

, 2014
peer reviewedIdiopathic pulmonary fibrosis (IPF) is one of the multiple pathologies included in the large family of diffuse interstitial parenchymal lung diseases (IPD).
CORHAY, Jean-Louis, GUIOT, Julien, Louis, Renaud   +2 more
core  

Hermansky-Pudlak syndrome 2 — a novel mutation with factor VII deficiency: a fluke from India

Journal of Rare Diseases
Objective Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and bleeding diathesis with other variable phenotypic features found in some of its subtypes, such as pulmonary fibrosis, colitis ...
Vibha Gupta, Rutvi Gautam Dave, Tulasi Geever, Sukesh C. Nair, Joy Mammen, N. A. Fouzia   +5 more
doaj   +1 more source

Rare genetic interstitial lung diseases: a pictorial essay

European Respiratory Review
The main monogenic causes of pulmonary fibrosis in adults are mutations in telomere-related genes. These mutations may be associated with extrapulmonary signs (hepatic, haematological and dermatological) and typically present radiologically as usual ...
Raphael Borie, Laureline Berteloot, Caroline Kannengiesser, Matthias Griese, Aurelie Cazes, Bruno Crestani, Alice Hadchouel, Marie Pierre Debray   +7 more
doaj   +1 more source

RGS10 shapes the hemostatic response to injury through its differential effects on intracellular signaling by platelet agonists. [PDF]

, 2018
Platelets express ≥2 members of the regulators of G protein signaling (RGS) family. Here, we have focused on the most abundant, RGS10, examining its impact on the hemostatic response in vivo and the mechanisms involved.
Brass, Lawrence F., DeHelian, Daniel, Gupta, Shuchi, Ma, Peisong, Sampietro, Sara, Stalker, Timothy J., Tang, Alan, Tutwiler, Valerie   +7 more
core   +1 more source

The Fibrosis Across Organs Symposium: A Roadmap for Future Research Priorities. [PDF]

, 2019
Barnes, Teresa R., Brenner, David A., Brown, Kevin K., Cosgrove, Gregory P., Crane, Stephen, Doherty, Dennis E., for the Fibrosis Across Organs Symposium Working Group, Hewitson, Timothy D., Jugdutt, Bodh I., Kervitsky, Dolly J., McKinsey, Timothy A., Richeldi, Luca, Roman, Jesse, Schnapp, Lynn M., Tager, Andrew M., Tosi, John D., White, Eric S.   +16 more
core   +2 more sources

Homozygous HPS1 variant in an Iranian sibling pair with Hermansky–Pudlak syndrome

Egyptian Journal of Medical Human Genetics
Background Hermansky–Pudlak syndrome (HPS) is an uncommon autosomal recessive disease that presents with bleeding diathesis and oculocutaneous albinism (OCA).
Ensiyeh Bahadoran, Mehrzad Ramezani, Sahar Moghbelinejad   +2 more
doaj   +1 more source