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Hermansky-Pudlak Syndrome Type 1 Presenting with Interstitial Lung Disease: A Report of a Rare Case from Saudi Arabia.
Am J Case Rep
March 2025
Pulmonary Division, Department of Medicine, King Saud University Hospital, Riyadh, Saudi Arabia.
BACKGROUND Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and potential multi-organ involvement such as pulmonary fibrosis and granulomatous colitis. While its incidence is globally low, it may be under-reported, particularly in regions with high rates of consanguinity, such as the Middle East. By reporting this case, we aim to increase awareness of this condition as well as its association with ILD.
View Article and Find Full Text PDFThe small molecule ML233 is a direct inhibitor of tyrosinase function.
bioRxiv
February 2025
MDI Biological Laboratory, Kathryn W. Davis Center for Regenerative Biology and Aging, Bar Harbor, Maine, United States of America.
Melanogenesis is the biological process regulating the synthesis of melanin pigments in melanocytes. Defective melanogenesis is associated with numerous human skin diseases, including, but not limited to, albinism, vitiligo, melasma, and hypo- and hyperpigmentation disorders. Tyrosinase is the rate-limiting enzyme controlling melanogenesis, and hence tremendous efforts have been made to identify potent and safe inhibitors of tyrosinase function.
View Article and Find Full Text PDFMolecular insights into genodermatoses: Genetic findings from 43 patients.
Arch Dermatol Res
March 2025
Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey.
Genodermatoses, a group of inherited skin disorders, are characterized by significant genetic heterogeneity and clinical variability, often posing diagnostic and therapeutic challenges. Advances in next-generation sequencing (NGS) technologies, such as whole exome sequencing (WES) and clinical exome sequencing (CES), have transformed the diagnostic landscape by enabling comprehensive genetic analysis. This study aimed to investigate the molecular spectrum and clinical relevance of genetic findings in 43 patients diagnosed with genodermatoses.
View Article and Find Full Text PDFScreening of Clinical Data of Patients with Abnormal Head Posture and Investigation of Abnormal Head Posture Change After Treatment.
Turk J Ophthalmol
February 2025
Ondokuz Mayıs University Faculty of Medicine, Department of Ophthalmology, Samsun, Türkiye.
Objectives: To analyze the clinical characteristics of patients with abnormal head posture (AHP) due to ocular causes and investigate the effect of treatment on the change in AHP.
Materials And Methods: Patients with AHP admitted to the strabismus unit of our clinic between 2011 and 2022 were retrospectively analyzed. The patients' clinical and demographic data and change in AHP after treatment were recorded.
Synonymous but Significant: New Findings of Pathological Variants in Hermansky-Pudlak Syndrome.
Pigment Cell Melanoma Res
March 2025
Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and systemic complications, including bleeding tendencies. While 11 genes associated with HPS have been identified, cases of HPS5 remain exceedingly rare, particularly in Japan. Here, we report two Japanese patients with novel pathological HPS5 variants, expanding the genetic spectrum of this disorder.
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