Hermansky‐Pudlak Syndrome: From Molecular Pathogenesis to Targeted Therapies
IUBMB Life, Volume 77, Issue 5, May 2025.ABSTRACT Hermansky‐Pudlak syndrome (HPS) is a rare inherited disorder caused by defects in lysosome‐related organelles (LROs) in various tissues, including platelets, melanocytes, and endothelial cells. Key features of HPS include oculocutaneous albinism, bleeding tendency, and, in some cases, pulmonary fibrosis, granulomatous colitis, and ...
Francesca Tondi +6 more
wiley +1 more source
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages [PDF]
, 2017 Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub-lamina densa blistering, erosions, and chronic ulcers. COL7A1, encoding type VII collagen, has been identified as the candidate gene for dystrophic epidermolysis bullosa. In
Abiri, Maryam +11 more
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Post‐COVID‐19 Neutropenia in an Infant With Thalassemia Minor: Case Report
Clinical Case Reports, Volume 13, Issue 2, February 2025.ABSTRACT This case of an 11‐month‐old female who developed severe neutropenia following COVID‐19 infection underscores the need for heightened vigilance and monitoring of hematological parameters in infants post‐COVID‐19. The exact mechanism of COVID‐19‐induced neutropenia is not fully understood, but it may involve cytokine‐induced suppression of ...
Yasmine Elsherif +4 more
wiley +1 more source
Gray platelet syndrome: proinflammatory megakaryocytes and α-granule loss cause myelofibrosis and confer metastasis resistance in mice. [PDF]
, 2014 NBEAL2 encodes a multidomain scaffolding protein with a putative role in granule ontogeny in human platelets. Mutations in NBEAL2 underlie gray platelet syndrome (GPS), a rare inherited bleeding disorder characterized by a lack of α-granules within blood
Bennett, Cavan +14 more
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Chediak-Higashi Syndrome [PDF]
Proceedings of the Royal Society of Medicine, 1975 J E, Cree +3 more
openaire +2 more sources
Development of classical Hodgkin’s lymphoma in an adult with biallelic STXBP2 mutations [PDF]
, 2012 Experimental model systems have delineated an important role for cytotoxic lymphocytes in the immunosurveillance of cancer. In humans, perforin-deficiency has been associated with occurrence of hematologic malignancies.
Bryceson, Yenan T. +7 more
core +1 more source
, 2003 Chediak-Higashi syndrome (CHS) is an autosomal recessive disorder characterized by severe immunologic defects including reduced bacteriocidal activity of neutrophils and impaired natural killer (NK) activity.
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Transgenic animals - review paper [PDF]
, 2006 Developments in the biological sciences in the last years have changed mankind's ability to manipulate the genetics, cell biology and physiology of biological organisms. These techniques, collectively termed biotechnology, create the opportunity for
Blundell, Renald
core
Clinical aspects and main diagnostic methods of Chediak-Higashi syndrome [PDF]
, 2021 Chediak-Higashi Syndrome is a pathology caused by a mutation in the LYST gene, characterized by immunodeficiency, oculocutaneous albinism, and neurological dysfunction resulting from neutrophil changes. Homozygotes die in the first decade of life.
Colli, Vilma Clemi +1 more
core
A Genetic Screen Identifies a Critical Role for the WDR81-WDR91 Complex in the Trafficking and Degradation of Tetherin. [PDF]
, 2016 Tetherin (BST2/CD317) is a viral restriction factor that anchors enveloped viruses to host cells and limits viral spread. The HIV-1 Vpu accessory protein counteracts tetherin by decreasing its cell surface expression and targeting it for ubiquitin ...
Davis, Luther J +5 more
core +2 more sources