Results 41 to 50 of about 1,233,281 (160)

Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development.

, 2002
Hermansky-Pudlak syndrome is an autosomal recessive disease characterized by pigment dilution and prolonged bleeding time. At least 15 mutant mouse strains have been classified as models of Hermansky-Pudlak syndrome.
Nguyen, T, Peters, L L, Fluhr, J, Kermani, M, Novak, E K, Swank, R T, Wei, M L   +6 more
core   +2 more sources

Testing for Non‐Severe Heritable Platelet Function Disorders

International Journal of Laboratory Hematology, Volume 48, Issue 6, Page 1279-1288, December 2026.
ABSTRACT Heritable platelet function disorders (HPFD) are a diverse group of bleeding disorders characterised by a primary qualitative defect in platelet function rather than platelet number. HPFD may be broadly categorised according to the severity of bleeding, with Glanzmann thrombasthenia and Bernard Soulier syndrome classically considered severe ...
Kate Burley, Naomi Cornish, Maria Molina Carretero, Sarah K. Westbury   +3 more
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2519-2524, November 2026.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Generation of Hermansky Pudlak syndrome type 2 (HPS2) induced pluripotent stem cells (iPSCs)

Stem Cell Research, 2016
Hermansky–Pudlak syndrome type 2 (HPS2) is a rare autosomal recessive disorder resulting from functional mutations in the adaptor-related protein complex 3, beta 1 subunit (AP3B1) gene.
Jean Ann Maguire, Lin Lu, Jason A. Mills, Lisa M. Sullivan, Paul Gadue, Deborah L. French   +5 more
doaj   +1 more source

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
core  

Spectrum of Primary Hemophagocytic Lymphohistiocytosis‐Associated Gene Mutations in Chinese Patients

MedComm, Volume 7, Issue 9, September 2026.
The locations and types of variants in the most frequently affected genes. ABSTRACT Hemophagocytic lymphohistiocytosis (HLH) is a life‐threatening disease characterized by hyperinflammation. Primary HLH (primary HLH), resulting from genetic mutations, is a subtype of HLH.
Wenshuai Zheng, Shenyu Wang, Zhenlan Du, Lianming Liao, Xiaohong Li, Hongmei Ning   +5 more
wiley   +1 more source

Emergence of inflammatory fibroblasts with aging in Hermansky-Pudlak syndrome associated pulmonary fibrosis. [PDF]

Commun Biol
The longitudinal cellular interactions that drive pulmonary fibrosis are not well understood. To investigate the disease underpinnings associated with fibrosis onset and progression, we generated a scRNA-seq atlas of lungs from young and aged mouse ...
Banaschewski BJH, Michki SN, Sitaraman S, Pan R, Wang JY, Stewart D, Goldy MK, Lin SM, Cantu E, Katzen JB, Basil MC, Emtiazjoo AM, Todd JL, Gokey JJ, Kropski JA, Frank DB, Zepp JA, Young LR.   +17 more
europepmc   +2 more sources

Innate immunity defects in Hermansky-Pudlak type 2 syndrome

, 2006
Adaptor protein-3 (AP-3) is an ubiquitous cytoplasmic complex that shuttles cargo proteins from the trans-Golgi and a tubular-endosomal compartment to endosome- lysosome–related organelles. Lack of the _3A subunit of this complex causes Hermansky-Pudlak
PAROLINI S, GALLO F, DUSI S, Mercenaro E., PAROLINI, Silvia, Badolato R., GRIFFITHS GM, FACCHETTI, Fabio, Ferrari D., MARCENARO, EMANUELA, FONTANA S, Gallo F., Cavadini P., MORETTA, ALESSANDRO, BADOLATO, Raffaele, Booth S., Notarangelo L. D., GENTILI F, MARCENARO E, NOTARANGELO L, Facchetti F., FACCHETTI F, CAVADINI P, VERMI, William, Notarangelo L., Benassi M., CASSATELLA M, BOOTH S, Fontana S., CASSATELLA, Marco Antonio, DUSI, Stefano, Parolini S., Gentili F., NOTARANGELO LD, Griffiths G. M., Vermi W., VERMI W, DONINI M, DONINI, Marta, FERRARI D, MORETTA A, Moretta A., BENASSI M   +42 more
core   +1 more source

Pancreatic Involvement in Hermansky–Pudlak Syndrome- A Case Report [PDF]

, 2019
Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder that presents with oculocutaneous albinism, bleeding disorders, and immunodeficiency. Granulomatous colitis and pulmonary fibrosis are two major complications of this syndrome.
Kumar, Vinesh, Shaukat, Nauman, Khan, Aslam, Iqbal, Aqsa, Shaikh, Safia, Awan, Bilal, Nawaz, Abid   +6 more
core   +1 more source

Severe Postoperative Hemorrhage Following Dental Debridement in a Patient With PSPD

Special Care in Dentistry, Volume 46, Issue 4, July/August 2026.
Abstract Background Platelet Storage Pool Deficiency (PSPD) is a rare qualitative defect involving impaired granule secretion, often presenting with normal routine coagulation profiles. This case highlights the challenges of dental debridement in a young adult with special health care needs where functional platelet failure outweighs numerical counts ...
Dan Burch, Richard Clark, Michael Bianchi   +2 more
wiley   +1 more source