Retinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7
Sign Up to like & getrecommendations! Published in 2020 at "Scientific Reports"
DOI: 10.1038/s41598-020-60931-5
Abstract: Deletion of dystrobrevin binding protein 1 has been linked to Hermansky-Pudlak syndrome type 7 (HPS-7), a rare disease characterized by oculocutaneous albinism and retinal dysfunction. We studied dysbindin-1 null mutant mice (Dys −/− ) to… read more here.
Keywords: hermansky pudlak; pharmacological targets; dys mice; mice ... See more keywords
Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Medicine"
DOI: 10.1080/07853890.2019.1587498
Abstract: Abstract Background: Hermansky-Pudlak syndrome (HPS) is a rare inherited platelet disorder characterized by bleeding diathesis, oculocutaneous albinism (OCA) and a myriad of often-serious clinical complications. Methods: We established the clinical and laboratory phenotype and genotype… read more here.
Keywords: phenotype genotype; hermansky pudlak; ten patients; hps ... See more keywords
Hermansky-Pudlak Syndrome: Spectrum in Oman
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000002552
Abstract: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, characterized by oculocutaneous albinism, a hemorrhagic diathesis secondary to storage pool-deficient platelets, and in some patients’ pulmonary fibrosis, granulomatous colitis, and immunodeficiency. To date, 11 different… read more here.
Keywords: hermansky pudlak; hps type; pudlak syndrome;
Novel AP3B1 mutations in a Hermansky–Pudlak syndrome type2 with neonatal interstitial lung disease
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Allergy and Immunology"
DOI: 10.1111/pai.13748
Abstract: To the Editor, Hermansky– Pudlak syndrome (HPS) is an inherited disorder characterized by albinism of the oculocutaneous region and hemorrhagic disease. Eleven genes causative of HPS have been identified, and the clinical phenotypes of the… read more here.
Keywords: hermansky pudlak; pudlak syndrome; interstitial lung; disease ... See more keywords
Hermansky-Pudlak syndrome-2 alters mitochondrial homeostasis in the alveolar epithelium of the lung
Sign Up to like & getrecommendations! Published in 2021 at "Respiratory Research"
DOI: 10.1186/s12931-021-01640-z
Abstract: 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. Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive… read more here.
Keywords: hermansky pudlak; dysfunction; mitochondrial homeostasis; hps ... See more keywords
Pulmonary and Intestinal Involvement in a Patient with Myeloperoxidase-specific Antineutrophil Cytoplasmic Antibody-positive Hermansky-Pudlak Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Internal Medicine"
DOI: 10.2169/internalmedicine.9350-22
Abstract: A 26-year-old Japanese woman was admitted with a 1-month history of diarrhea, a high fever for a few days, and exacerbation of dyspnea. She was treated with an antifibrotic drug and long-term oxygen therapy for… read more here.
Keywords: myeloperoxidase; pulmonary intestinal; intestinal involvement; pudlak syndrome ... See more keywords
Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents—A case study
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.914243
Abstract: Background and aims Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA) and platelet storage pool deficiency. The HPS-2 subtype is distinguished by neutropenia, and little is known about its periodontal… read more here.
Keywords: hps; case study; periodontitis; case ... See more keywords
Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7)
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pharmacology"
DOI: 10.3389/fphar.2021.786937
Abstract: Hermansky-Pudlak syndrome (HPS), a rare heterogeneous autosomal recessive disorder, is characterized by oculocutaneous albinism (OCA) and a bleeding diathesis due to a defect regarding melanosomes and platelet delta (δ)-granule secretion. Interestingly, patients with HPS type… read more here.
Keywords: hps; hps3 hps5; pudlak syndrome; platelet ... See more keywords
Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14010145
Abstract: Background: Hermansky–Pudlak syndrome (HSP) was first reported in 1959 as oculocutaneous albinism with bleeding abnormalities, and now consists of 11 distinct heterogenic genetic disorders that are caused by mutations in four protein complexes: AP-3, BLOC1,… read more here.
Keywords: family; hps4 genes; novel variants; pudlak syndrome ... See more keywords