Results 61 to 70 of about 1,137,601 (187)

Tissue‐Resident Myeloid and Histiocytic Cells in Health and Disease: Novel Emerging Concepts

American Journal of Hematology, Volume 100, Issue 12, Page 2305-2319, December 2025.
ABSTRACT Although all myeloid cells are considered to derive from hematopoietic stem cells, the cells in each myeloid lineage are heterogeneous populations, and their distribution and functions vary, depending on underlying physiologic and pathologic processes, age, sex, and genetic and epigenetic signatures.
Peter Valent, Johann Wojta, Petri T. Kovanen, Olivier Hermine, Falko Fend, Karl Sotlar, Hildegard Greinix, Klaus Geissler, Karin Hartmann, Juliana Schwaab, Marco Herling, Laura Boccuni, Lukas Kazianka, Max Vincent John, Wolfgang R. Sperr, Carina Zierfuss, Alexandar Tzankov, Christian Sillaber, Milen Minkov, Gregor Hoermann, Matthew Collin, Hans‐Peter Horny, Torsten Haferlach, Maria Sibilia, Julien Haroche, Paul La Rosée, Alberto Orfao, Michel Arock   +27 more
wiley   +1 more source

Mutational spectrum of the AP3B1 gene in an Iraqi family affected with Hermansky–Pudlak syndrome type 2

Egyptian Journal of Medical Human Genetics, 2023
Background Hermansky–Pudlak syndrome type 2 (HPS2) is a rare autosomal recessive inherited disease present with partial oculocutaneous albinism, nystagmus, prolonged bleeding time, and immunodeficiency. Case presentation We aimed at identifying a genetic
Mostafa Neissi, Adnan Issa Al-Badran
doaj   +1 more source

Pulmonary Fibrosis in Hermansky–Pudlak Syndrome [PDF]

Annals of the American Thoracic Society, 2016
Abstract Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder characterized by oculocutaneous albinism and a bleeding diathesis due to platelet dysfunction. More than 50% of cases worldwide are diagnosed on the Caribbean island of Puerto Rico.
Glenn W, Vicary, Yeidyly, Vergne, Alberto, Santiago-Cornier, Lisa R, Young, Jesse, Roman   +4 more
openaire   +2 more sources

Hermansky-Pudlak syndrome in the peripartum period [PDF]

Obstetric Medicine, 2008
Hermansky-Pudlak syndrome (HPS) is a disease characterized by the triad of oculocutaneous albinism, bleeding diathesis and organ failure secondary to lysosomal accumulation of ceroid lipofuscin. We report the case of a pregnant woman with HPS who had a successful vaginal delivery with the administration of desmopressin.
Iris L, Tong, Ghada, Bourjeily
openaire   +2 more sources

Guanine Nucleotide Exchange Factors and Small GTPases: Their Regulation and Functions, Diseases, and Therapeutic Targets

MedComm, Volume 6, Issue 10, October 2025.
This review comprehensively examines the regulatory mechanisms and physiological roles of guanine nucleotide exchange factors (GEFs) and their small GTPase substrates, highlighting their significance in cellular processes and disease pathogenesis.
Zexing Lin, Chujun Ni, Haiyang Jiang, Huan Yang, Liting Deng, Peizhao Liu, Xuanheng Li, Yilong Yu, Weijie Li, Runnan Wang, Bo Liao, Jiaqi Kang, Juanhan Liu, Xiuwen Wu, Jianan Ren, Yun Zhao   +15 more
wiley   +1 more source

Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype

G3: Genes, Genomes, Genetics, 2017
Here, we present and characterize the spontaneous X-linked recessive mutation casper, which causes oculocutaneous albinism in threespine sticklebacks (Gasterosteus aculeatus).
James C. Hart, Craig T. Miller
doaj   +1 more source

Menstrual suppression to decrease intrauterine device expulsion in adolescents with inherited bleeding disorders

International Journal of Gynecology &Obstetrics, Volume 169, Issue 1, Page 421-423, April 2025.
Peter H. Cygan, Kelly M. Kons, Megan H. Fiorillo, Tonya S. Wright   +3 more
wiley   +1 more source

Functional and Morphological Plasticity of the Endolysosomal System: Pigment Organelles at the Crossroads of Physiology and Pathology

Biology of the Cell, Volume 117, Issue 10, October 2025.
The morphodynamical plasticity of the endolysosomal system supports the formation and function of specialized intracellular compartments, as exemplified by the pigment organelles in skin cells. In epidermal melanocytes and keratinocytes, membrane trafficking and remodeling coordinate tissue pigmentation and protect the genome from photodamage ...
Laura Salavessa, Myckaëla Rouabah, Paula Pernea, Smail Hadj‐Rabia, Cédric Delevoye   +4 more
wiley   +1 more source

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

Síndrome de Hermansky-Pudlak: relato de caso/ Hermansky-Pudlak Syndrome: case Report [PDF]

, 2021
INTRODUÇÃO: A síndrome de Hermansky-Pudlak é uma doença rara de origem autossômica recessiva, com baixas incidências mundialmente (1:1000000), exceto em Porto Rico, cuja incidência se aproxima de 1:1800.
Gomes, Julia Bergamini, Vieira, Renata do Couto Gontijo de Deus, Porto, Renato Machado, Faria, Marcelo Ribeiro, Junior, Maurício Jorge Andrade, Braz, Lorenna da Silva, Freitas, Maria Alice Vieira de, Fonseca, Daysa de Carvalho, Santana, Hernani Lopes, Teixeira, Gabriella Waldraff, Pires, Raiza Santos, Araujo, Rejane Estrela, Santos, Claudio Silva, Porto, Jully Miranda, Oliveira, Katia Caetano de   +14 more
core   +1 more source