Results 81 to 90 of about 1,137,601 (187)

Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome

Orphanet Journal of Rare Diseases, 2019
Background Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and platelet dysfunction and can sometimes lead to a highly aggressive form of pulmonary fibrosis that mimics the fatal lung ...
Ross Summer, Rachana Krishna, DeLeila Schriner, Karina Cuevas-Mora, Dominic Sales, Rachel Para, Jesse Roman, Carl Nieweld, Bernadette R. Gochuico, Freddy Romero   +9 more
doaj   +1 more source

Hermansky-Pudlak syndrome

Journal of Osteopathic Medicine, 2022
Austin B. Ambur, Timothy A. Nyckowski
openaire   +2 more sources

Hermansky-Pudlak syndrome: a case report and discussion

, 1998
Hermansky-Pudlak syndrome is a rare, inherited, autosomal recessive disease. Diagnosis is based on a triad of signs: oculocutaneous albinism, a hemorrhagic tendency due to a platelet disorder, and an accumulation of lipopigments in different organs ...
Vanhooteghem, O., Courtens, Winnie, André, Josette, Sass, Ursula, Song, Micheline   +4 more
core   +1 more source

Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis

, 2018
Purpose: Limited information is available regarding chronic treatment with pirfenidone, an anti-fibrotic drug. Effects of long-term open-label pirfenidone were evaluated in a small cohort with Hermansky-Pudlak syndrome (HPS), a rare autosomal recessive ...
Seward, Samuel L., AKAL, TÜLAY, O'Brien, Kevin J., Akal, Orhan, Introne, Wendy J., Merideth, Melissa A., McGowan, Melissa P., Barbu, Adrian, Gochuico, Bernadette R., Gahl, William A.   +9 more
core   +1 more source

The Zebrafish fade out mutant: a novel genetic model for Hermansky-Pudlak syndrome [PDF]

, 2006
PURPOSE: To characterize retinal morphology and visual system function in the zebrafish mutant fade out (fad) and to establish the mutant as a lower vertebrate model for Hermansky-Pudlak syndrome (HPS).
Neuhauss, S. C. F., Rao, P., Neuhauss, S C F; https://orcid.org/, Rao, P, Bahadori, R., Makhankov, Y. V., Rinner, O., Biehlmaier, O., Makhankov, Y V, Schonthaler, H B, Schonthaler, H. B., Jagadeeswaran, P, Jagadeeswaran, P., Rinner, O, Biehlmaier, O, Bahadori, R   +15 more
core   +1 more source

Hermansky–Pudlak syndrome with interstitial lung disease: A holistically worked up couplet

Lung India, 2019
Hermansky-Pudlak syndrome (HPS) is an extremely subtile autosomal recessive disorder characterized by tyrosinase-positive oculocutaneous albinism (Ty-pos OCA), bleeding tendencies, and systemic complications associated to lysosomal dysfunction.
Abhishek Gupta, Ketaki Utpat, Unnati Desai, Jyotsna M Joshi   +3 more
doaj   +1 more source

In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.

, 2015
Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism, bleeding tendency and susceptibility to pulmonary fibrosis. No curative therapy is available.
Gochuico, B.R., Cullinane, A.R., Candotti, F., Dorward, H., Ikawa, Y., Hess, R., Huizing, M., Gahl, W.A.   +7 more
core   +1 more source

Molecular genetic analysis of the DNA of patients with Morbus Glanzmann, Hermansky Pudlak Syndrome and Bernard Soulier Syndrome

, 2009
Die Erkrankungen Morbus Glanzmann, Hermansky Pudlak Syndrom und Bernard Soulier Syndrom sind seltene, autosomal rezessiv vererbte Blutungsstörungen. In dieser Arbeit wurde die DNA von Patienten mit Morbus Glanzmann und Hermansky Pudlak Syndrom mittels ...
Schubart, Christina
core  

Hermansky‐Pudlak syndrome [PDF]

British Journal of Haematology, 2007
Mark, Walker, Jeanette, Payne, Bart, Wagner, Ajay, Vora   +3 more
openaire   +2 more sources

Recent advance in Hermansky-Pudlak syndrome [PDF]

, 2007
Hermansky-Pudlak syndrome (HPS) is genetically heterogeneous, recessively inherited disease characterized by oculocutaneous albinism, hemorrhagic diathesis, pulmonary fibrosis and granulomatous colitis.
Oiso, Naoki
core   +1 more source