Results 51 to 60 of about 1,230,655 (143)

Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes. [PDF]

Genes (Basel), 2023
Zaman Q, Sadeeda, Anas M, Rehman G, Khan Q, Iftikhar A, Ahmad M, Owais M, Ahmad I, Muthaffar OY, Abdulkareem AA, Bibi F, Jelani M, Naseer MI.   +13 more
europepmc   +1 more source

Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis

, 2004
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a platelet storage pool deficiency. Some patients also develop fatal pulmonary fibrosis and some have granulomatous colitis.
Elisabeth Eppler, Thomas Brack, Eppler, E, Thomas Stallmach, Marjan Huizing, William A. Gahl, Bachli, E B, Trüeb, R M, Ralph M. Trüeb, Brack, T, Huizing, M, Gahl, W A, Esther B. Bachli, Stallmach, T, Brack T, Bachli EB, Gahl WA, Trüeb RM, Stallmach T, Huizing M, Eppler E   +20 more
core   +1 more source

Dermatologic manifestations in patients with the Hermansky-Pudlak syndrome types 1 and 3. [PDF]

Orphanet J Rare Dis, 2022
Santos Malave G, Izquierdo NJ, Sanchez NP.   +2 more
europepmc   +1 more source

Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population. [PDF]

Genes (Basel), 2023
Chan KS, Bohnsack BL, Ing A, Drackley A, Castelluccio V, Zhang KX, Ralay-Ranaivo H, Rossen JL.   +7 more
europepmc   +1 more source

Evolutionarily conserved role of hps1 in melanin production and blood coagulation in medaka fish. [PDF]

G3 (Bethesda), 2022
Iwanami N, Ozaki Y, Sakaguchi H, Watanabe Y, Meng Q, Matsumoto K, Suzuki T, Hitomi K, Matsuda M.   +8 more
europepmc   +1 more source

In vitro and in vivo pharmacokinetic characterization, chiral conversion and PBPK scaling towards human PK simulation of S-MRI-1867, a drug candidate for Hermansky-Pudlak syndrome pulmonary fibrosis. [PDF]

Biomed Pharmacother, 2023
Padilha EC, Yang M, Shah P, Wang AQ, Duan J, Park JK, Zawatsky CN, Malicdan MCV, Kunos G, Iyer MR, Gaucher G, Ravenelle F, Cinar R, Xu X.   +13 more
europepmc   +1 more source

A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies. [PDF]

Cells, 2021
Boeckelmann D, Wolter M, Käsmann-Kellner B, Koehler U, Schieber-Nakamura L, Zieger B.   +5 more
europepmc   +1 more source

Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome. [PDF]

Biomed Res Int, 2021
Wang ZX, Liu YH, Dong Y, Li YL, Tang TY, Fan LL.   +5 more
europepmc   +1 more source

A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome. [PDF]

Cold Spring Harb Mol Case Stud, 2021
Lansdon LA, Chen D, Rush ET, Engleman K, Zhang L, Saunders CJ, Oroszi G.   +6 more
europepmc   +1 more source

Hermansky Pudlak Syndrome and pulmonary alveolar proteinosis at the same patient: First case report in the world literature

, 2013
PubMedID: 24284295Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder presenting with oculocutaneous albinism, bleeding diathesis and lysosomal accumulation of ceroid lipofuscin which leads to interstitial fibrosis in lung.
Kuleci S., Polat S., Ozyilmaz E., Hanta I., Gunasti S., Kuyucu Y., Gumurdulu D.   +6 more
core   +1 more source