Results 31 to 40 of about 1,137,601 (187)

Characterization of Melanosomes in Murine Hermansky–Pudlak Syndrome: Mechanisms of Hypopigmentation [PDF]

, 2004
The Hermansky–Pudlak syndrome is a genetically heterogeneous autosomal recessive disorder affecting mice and humans, which causes oculocutaneous albinism, prolonged bleeding, and in some cases, pulmonary fibrosis or granulomatous colitis.
Wei, Maria L., Nguyen, Thuyen
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Síndrome de Hermansky - Pudlak : Hermansky-Pudlak Syndrome [PDF]

, 2022
Introdução: a síndrome de hermansky – pudlak é uma doença genética caracterizada por albinismo oculocutâneo, disfunção plaquetária, e em alguns casos também há colite, insuficiência renal e fibrose pulmonar. Apresentação do caso: paciente, 4 anos, buscou
Pacheco, Camila Graziele Fontes, Santos, Jordânia, Salgado, Uanda Beatriz Pereira, Cipriano, Fernando Neves, Fonseca, Abner Lourenço da, Dantas, Camila Pizarro, Nakao, Rodrigo Lima, Sá, Jana Lopes de, Sousa, João Rafael Alencar de, Filho, Robson Pierre Pacífico Alves, Braga, Aline Almeida, Kakumoto, Marília Alves, Chagas, Jaqueline Maria de Azevedo, Teston, Victória Maria Grandeaux, Rodrigues, Thais Morais, Mocellin, Amanda Pereira, Pereira, Franciely dos Passos, Sá, Jônatas Ferreira de, Freitas, Yago José Fagundes de, Velasco, Júlia Sanches de, Amorim, Gabriela Echenique, Franco, Natália Rezende, Silva, Sabrina de Castro, Neme, Thais Helena Paro   +23 more
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In Vitro Disease Modeling of Hermansky-Pudlak Syndrome Type 2 Using Human Induced Pluripotent Stem Cell-Derived Alveolar Organoids

Stem Cell Reports, 2019
Summary: It has been challenging to generate in vitro models of alveolar lung diseases, as the stable culture of alveolar type 2 (AT2) cells has been difficult.
Yohei Korogi, Shimpei Gotoh, Satoshi Ikeo, Yuki Yamamoto, Naoyuki Sone, Koji Tamai, Satoshi Konishi, Tadao Nagasaki, Hisako Matsumoto, Isao Ito, Toyofumi F. Chen-Yoshikawa, Hiroshi Date, Masatoshi Hagiwara, Isao Asaka, Akitsu Hotta, Michiaki Mishima, Toyohiro Hirai   +16 more
doaj   +1 more source

Clinical and genetic aspects of albinism [PDF]

Клиническая офтальмология, 2021
V.V. Kadyshev, S.A. Ryazhskaya, O.V. Khalanskaya, N.V. Zhurkova, R.A. Zinchenko Research Center for Medical Genetics, Moscow, Russian Federation Albinism is a clinically and genetically heterogeneous group of hereditary ...
V.V. Kadyshev, S.A. Ryazhskaya, O.V. Khalanskaya, N.V. Zhurkova, R.A. Zinchenko   +4 more
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Generation and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1

Stem Cell Research, 2021
Induced pluripotent stem cells (iPSCs) were generated from blood outgrowth endothelial cells (BOECs) obtained from a healthy donor and from a patient diagnosed with Hermansky Pudlak Syndrome type 2 (HPS2), caused by compound heterozygous AP3B1 mutations (
Cathelijn E.M. Aarts, Ellie Karampini, Tatjana Wüst, Steven Webbers, Eszter Varga, Judy Geissler, Jan Voorberg, Marieke von Lindern, Ruben Bierings, Emile van den Akker, Taco W. Kuijpers   +10 more
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Modeling of Fibrotic Lung Disease Using 3D Organoids Derived from Human Pluripotent Stem Cells

Cell Reports, 2019
Summary: The pathogenesis of idiopathic pulmonary fibrosis (IPF), an intractable interstitial lung disease, is unclear. Recessive mutations in some genes implicated in Hermansky-Pudlak syndrome (HPS) cause HPS-associated interstitial pneumonia (HPSIP), a
Alexandros Strikoudis, Anna Cieślak, Lucas Loffredo, Ya-Wen Chen, Nina Patel, Anjali Saqi, David J. Lederer, Hans-Willem Snoeck   +7 more
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Treatment of Hermansky-Pudlak syndrome Associated granulomatous colitis with anti-TNF agents: case series and review of literature [PDF]

, 2019
Hermansky-Pudlak syndrome is a rare syndrome characterized by bleeding diathesis due to platelet dysfunction, oculocutaneous albinism and other systemic involvements.

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A family history of Hermansky–Pudlak syndrome complicated with pulmonary fibrosis: a case series and review

Respirology Case Reports, 2021
The Hermansky–Pudlak syndrome (HPS) is a rare genetic disorder. We report three cases from a family of 12 siblings, with six albinos, of whom four and the father had pulmonary fibrosis (PF).
Katiuska Liendo Martinez, Fernando Pedraza, Marta Fuentes Alonso, Luis Puente Maestu, Carla Rodriguez Naranjo, Javier De Miguel‐Diez   +5 more
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Hermansky–Pudlak Syndrome a Case Report [PDF]

, 2015
We report a case of Hermansky –Pudlak syndrome in a 34 year old lady who was born of non consanguineous marriage The incidence of HPS is highest in Puerto Rico.There are increasing reports of HPS among Indians.
Grace, Mary, P, Arun, V K, Shameer, Akhilesh, Akhilesh   +3 more
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Absence of dense platelet granules and ceroid-laden macrophages: Investigating the diversity of clinical presentations in Hermansky-Pudlak syndrome

Human Pathology: Case Reports, 2021
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive genetic disorder in which the proper function of lysosome-related organelles (LROS) is impaired due to mutation in one of several well-characterized genes, including, but not limited to: HPS1 ...
Lanny T. DiFranza, Dong Chen, Charles C. Marboe, Alex J. Rai   +3 more
doaj   +1 more source