Results 61 to 70 of about 1,223,862 (192)

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, Volume 115, Issue 5, Page 1015-1024, May 2026.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, Volume 53, Issue 2, Page 169-179, February 2026.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

Hemophagocytic Lymphohistiocytosis Thought to Be due to Undifferentiated Connective Tissue Disease Treated With Ruxolitinib: A Case Report

Case Reports in Rheumatology, Volume 2026, Issue 1, 2026.
Hemophagocytic lymphohistiocytosis (HLH) is a life‐threatening, systemic inflammatory syndrome. Cases without an identifiable acquired trigger are referred to as secondary HLH. In this report, we describe the case of a 24 year‐old woman whose underlying cause of HLH was particularly difficult to determine.
Emily Vachon, Heena Birbal Jain, Suzanna Kitten, Nikhat Kaura   +3 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

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

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

The Hermansky–Pudlak Syndrome

Medicine, 1985
Three Puerto Rican siblings with the Hermansky-Pudlak syndrome are described, and the literature on this syndrome is reviewed with regard to clinical factors, pathology, pathophysiology, and management of the disorder. The three patients all manifested oculocutaneous albinism and platelet storage pool disease with a moderate bleeding tendency.
RONALD A. DEPINHO, KAREN L. KAPLAN
openaire   +1 more source

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

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

Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis

, 2018
Purpose: Limited information is available regarding chronic treatment with pirfenidone, an anti-fibrotic drug. Effects of long-term open-label pirfenidone were evaluated in a small cohort with Hermansky-Pudlak syndrome (HPS), a rare autosomal recessive ...
Seward, Samuel L., AKAL, TÜLAY, O'Brien, Kevin J., Akal, Orhan, Introne, Wendy J., Merideth, Melissa A., McGowan, Melissa P., Barbu, Adrian, Gochuico, Bernadette R., Gahl, William A.   +9 more
core   +1 more source