Results 51 to 60 of about 4,782 (148)

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

Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function. [PDF]

, 2019
Oculocutaneous syndromes are often due to mutations in single genes. In some cases, mouse models for these diseases exist in spontaneously occurring mutations, or in mice resulting from forward mutatagenesis screens.
Adissu, Hibret, Berberovic, Zorana, Clary, Dave, Eskandarian, Mohammad, Flenniken, Ann M, International Mouse Phenotyping Consortium, Lloyd, KC Kent, McKerlie, Colin, Moore, Bret A, Moshiri, Ala, Moshiri, Ata S, Murphy, Christopher J, Newbigging, Susan, Nutter, Lauryl MJ, Owen, Celeste, Thomasy, Sara M   +15 more
core  

Hermansky-Pudlak Syndrome-2 Alters Mitochondrial Homeostasis in the Alveolar Epithelium of the Lung [PDF]

, 2021
BACKGROUND: Mitochondrial dysfunction has emerged as an important player in the pathogenesis of idiopathic pulmonary fibrosis (IPF), a common cause of idiopathic interstitial lung disease in adults.
Cuevas-Mora, Karina, Gochuico, Bernadette R, Romero, Freddy, Roque, Willy, Rosas, Ivan O, Shaghaghi, Hoora, Summer, Ross   +6 more
core   +2 more sources

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

Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders [PDF]

, 2015
Background: Inherited platelet function disorders (PFDs) are heterogeneous, and identification of the underlying genetic defects is difficult when based solely on phenotypic and clinical features of the patient. Objective: To analyze 329 genes regulating
,, Bem, D., Daly, M. E., Drake, S., Gissen, P., Jones, M. L., Leo, V. C., Lordkipanidze, M., Lowe, G. C., Morgan, N. V., Mumford, A., Simpson, M. A., Watson, S. P.   +12 more
core   +2 more sources

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

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

Case Report : Hermansky Pudlak Syndrome (Presenting as late onset heavy Menstrual Bleeding) [PDF]

Journal of Clinical and Diagnostic Research, 2013
Inherited bleeding disorders contribute significantly to the incidence and prevalence of Heavy Menstrual Bleeding (HMB), and contrary to popular belief can present any time during the reproductive years of a woman’s life.
Amita Ray, Sujoy Ray, Jose John Matthew
doaj   +1 more source

The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth. [PDF]

, 2010
Previous studies have implicated DTNBP1 as a schizophrenia susceptibility gene and its encoded protein, dysbindin, as a potential regulator of synaptic vesicle physiology.
Chan, LN, Cheli, VT, de Vellis, J, Dell'Angelica, EC, Ghiani, CA, Malvar, JS, Nazarian, R, Rodriguez-Fernandez, IA, Sabatti, C, Starcevic, M   +9 more
core   +2 more sources

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