Results 31 to 40 of about 4,832 (184)

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
core   +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
doaj   +1 more source

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
core   +1 more source

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
doaj  

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
doaj   +1 more source

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
core   +1 more source

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
doaj   +1 more source

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

BLOC-1 and BLOC-3 regulate VAMP7 cycling to and from melanosomes via distinct tubular transport carriers. [PDF]

, 2016
Endomembrane organelle maturation requires cargo delivery via fusion with membrane transport intermediates and recycling of fusion factors to their sites of origin.
Amanda Acosta-Ruiz, Anderson, Barlowe, Bennett, Boissy, Bonifacino, Bright, Brooks, Bultema, Bultema, Burgo, Burgo, Cai, Chen, Chiang, Cullinane, Cédric Delevoye, Danglot, Danglot, David J. Owen, Delevoye, Delevoye, Dell’Angelica, Dennis, Di Pietro, Domanska, Dorothy C. Bennett, Elena V. Sviderskaya, Fader, Fader, Gardner, Geoffrey G. Hesketh, Gerondopoulos, Ghiani, Gordon, Graça Raposo, Hesketh, Huang, Huizing, Ilse Hurbain, J. Paul Luzio, Jahn, Jani, Kent, Lane, Loftus, Lopes, Luzio, Marks, Martina, Martinez-Arca, Maryse Romao, McGough, Megan K. Dennis, Meng, Michael S. Marks, Mohrmann, Molino, Morita, Nazarian, Newell-Litwa, Nguyen, Nguyen, Orlow, Osanai, Philip S. Goff, Prekeris, Pryor, Pu, Richmond, Ryder, Salazar, Schäfer, Setty, Setty, Seward, Sitaram, Sitaram, Suzuki, Sviderskaya, Takeuchi, Tamura, Tamura, Theos, Thierry Galli, Vijayasaradhi, Wade, Wang, Wasmeier, Wassmer, Wei, Wei, Yatsu, Zhang   +93 more
core   +2 more sources