Results 21 to 30 of about 4,782 (148)

Technical Note: The Use of RNA-interference as a Tool to Find Proteins Involved in Melanosome Formation or Transport [PDF]

, 2009
Melanosomes are lysosome-related organelles that produce and transport the pigment melanin within melanocytes. Mutations in proteins required for melanosome transport and formation lead to a range of pigmentation defects, manifested at the cellular level
Daniela Rotin, Eva M. Amsen
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Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood [PDF]

, 2018
Background: Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes.
Brasch, F. (Frank), Griese, M. (Matthias), Grosse-Onnebrink, J. (Joerg), Guenther, A. (Andreas), Hengst, M. (Meike), Ley-Zaporozhan, J. (Julia), Mahavadi, P. (Poornima), Naehrlich, L. (Lutz), Reu, S. (Simone), Schuch, L.A. (Luise A.), Skanke, L.Hø. (Lars Høsøien), Terheggen-Lagro, S. (Suzanne)   +11 more
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In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer. [PDF]

, 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.
Candotti, F., Cullinane, A.R., Dorward, H., Gahl, W.A., Gochuico, B.R., Hess, R., Huizing, M., Ikawa, Y.   +7 more
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Hermansky-Pudlak syndrome

Muller Journal of Medical Sciences and Research, 2014
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis and lysosomal deposition of ceroid lipofuscin pigment.
Prabodh Panchadhyayee, Arnab Saha, Kaushik Saha, Rupam Kumar Ta, Pratik Barma   +4 more
doaj   +1 more source

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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BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery. [PDF]

, 2015
Hermansky-Pudlak syndrome (HPS) is a group of disorders characterized by the malformation of lysosome-related organelles, such as pigment cell melanosomes.
Acosta-Ruiz, A, Bennett, DC, de Jesus-Rojas, W, Delevoye, C, Dennis, MK, Mantegazza, AR, Marks, MS, Raposo, G, Ravichandran, K, Rux, J, Setty, SRG, Sitaram, A, Snir, OL, Sviderskaya, EV, Tenza, D, Zorger, R   +15 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
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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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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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BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells [PDF]

, 2016
Hermansky-Pudlak syndrome (HPS) is a recessive disorder with bleeding diathesis, which has been linked to platelet granule defects. Both platelet granules and endothelial Weibel-Palade bodies (WPBs) are members of lysosome-related organelles (LROs) whose
Cutler, DF, Kriston-Vizi, J, Li, W, Ma, J, Yang, L, Zhang, Z   +5 more
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