Hermanski-Pudlak Syndrome (Hermansky-Pudlak Syndrome)

07/15/1988 - "An improved method for measuring endogenous serotonin in platelets of patients with Hermansky-Pudlak syndrome."
04/01/2011 - "Furthermore, this electrochemical method was applied to study the stimulation-secretion coupling in platelets, serotonin storage and release dynamics with applied pharmacological agents, and chemical messenger storage deficiency in Hermansky-Pudlak Syndrome (HPS) platelets, and the potential of this method to reveal secretion behavior in both normal and diseased platelets has clearly been demonstrated."
01/01/1982 - "The Hermansky-Pudlak syndrome is a mild bleeding disorder in which the platelets are markedly deficient in the storage pool of adenine nucleotides and serotonin. "
02/01/1997 - "In the presence and absence of extracellular calcium, the [Ca2+]i response induced by 10 microM ADP, but not those induced by 0.1 unit/ml thrombin, 3.3 microM U46619, or 20 microM serotonin, was significantly greater in SPD platelets than in normal platelets, and was increased to the greatest extent in SPD patients with Hermansky-Pudlak syndrome (HPS), in whom the dense granule deficiencies are the most severe. "
01/01/1976 - "The authors have examined 8 cases with Hermansky-Pudlak syndrome in whom besides the usual abnormalities of abnormal aggregation with collagen, absence of second wave of aggregation, reduction of the 5-HT uptake, presence of 5-HIAA in the platelets, two new abnormalities are described: the presence of a large amount of an unidentified metabolite after 5-HT incorporation which differs from 5-HT and 5 hydroxytryptophol and an abnormal incorporation of labelled glycerol in the triglycerides. "

03/01/1989 - "Recently a defective calcium uptake system and low activities for membrane-associated thioredoxin reductase have been shown in Hermansky-Pudlak syndrome, and their possible role in the pathomechanism of this disorder is discussed."
01/01/1989 - "Regulation of thioredoxin reductase by calcium in Hermansky-Pudlak syndrome."
01/01/1989 - "Clinical studies show depigmentation disorders vitiligo and tyrosinase positive albinism (Hermansky-Pudlak syndrome) appear to have defective calcium uptake systems influencing both free radical defense and melanin biosynthesis."
02/01/1997 - "In the presence and absence of extracellular calcium, the [Ca2+]i response induced by 10 microM ADP, but not those induced by 0.1 unit/ml thrombin, 3.3 microM U46619, or 20 microM serotonin, was significantly greater in SPD platelets than in normal platelets, and was increased to the greatest extent in SPD patients with Hermansky-Pudlak syndrome (HPS), in whom the dense granule deficiencies are the most severe. "

10/01/2010 - "Further investigations disclosed platelet storage defect with adenosine diphosphate deficiency and abnormal aggregation compatible with Hermansky-Pudlak syndrome. "
04/01/2002 - "Individuals with Hermansky-Pudlak Syndrome (HPS) lack platelet dense granules and have no ADP-autocrine response. "
04/01/1981 - "Platelet aggregation independent of ADP release or prostaglandin synthesis in patients with hermansky-Pudlak syndrome."
03/05/2015 - "Defective thrombus formation in Hermansky-Pudlak syndrome, associated with impaired exocytosis of residual granules in endothelial cells and platelets, the latter due to deficiency of ADP, is characterized by a defect in T granule secretion, a deficiency in extracellular PDI secretion, and impaired fibrin generation and platelet aggregation. "
03/05/2015 - "In this issue of Blood, Meng et al and Sharda et al use the Hermansky-Pudlak syndrome (HPS) as a model to show that adenosine 5′-diphosphate (ADP) released by dense granules serves as an autocrine signal to potentiate platelet release of α-granule and lysosome cargo and protein disulfide isomerase (PDI), all of which serve to stabilize thrombus formation."

02/01/1997 - "In the presence and absence of extracellular calcium, the [Ca2+]i response induced by 10 microM ADP, but not those induced by 0.1 unit/ml thrombin, 3.3 microM U46619, or 20 microM serotonin, was significantly greater in SPD platelets than in normal platelets, and was increased to the greatest extent in SPD patients with Hermansky-Pudlak syndrome (HPS), in whom the dense granule deficiencies are the most severe. "

02/01/1997 - "In the presence and absence of extracellular calcium, the [Ca2+]i response induced by 10 microM ADP, but not those induced by 0.1 unit/ml thrombin, 3.3 microM U46619, or 20 microM serotonin, was significantly greater in SPD platelets than in normal platelets, and was increased to the greatest extent in SPD patients with Hermansky-Pudlak syndrome (HPS), in whom the dense granule deficiencies are the most severe. "

03/15/2002 - "The findings of a transbronchial lung biopsy, presenting alveolar macrophages with ceroid-like material and platelet function studies proving slightly impaired platelet aggregation confirmed the clinical diagnosis of Hermansky-Pudlak syndrome. "
11/01/1995 - "Ceroid pigment deposition in circulating blood monocytes and T lymphocytes in Hermansky-Pudlak syndrome: an ultrastructural study."
05/01/1990 - "In this study of a patient with Hermansky-Pudlak syndrome, we demonstrate the presence of ceroid within dermal macrophages. "
06/01/2005 - "In addition, because platelet dysfunction and ceroid-like materials within the reticuloendothelial cells of urine and bone marrow aspiration were recognized, we made a diagnosis of Hermansky-Pudlak syndrome (HPS). "
11/01/1995 - "It was speculated that intralysosomal accumulation of ceroid pigment granules in Hermansky-Pudlak syndrome may be due to lysosomal dysfunction."

04/01/2009 - "During our studies of biogenesis of lysosome-related organelles complex-1 (BLOC-1), a protein complex involved in protein trafficking and containing the products of genes mutated in Hermansky-Pudlak syndrome, we faced the problem of having too many candidate binding partners to pursue experimentally. "
01/01/2021 - "The biogenesis of LROs is regulated by the Hermansky-Pudlak syndrome (HPS) protein-associated complexes through transporting cargo proteins to WPBs. "
10/01/2017 - "Hermansky-Pudlak syndrome type 2 (HPS2) is a syndrome caused by mutations in the beta-3A subunit of the adaptor protein (AP)-3 complex (AP3B1 gene). "
01/01/2016 - "Hermansky-Pudlak Syndrome type-1 (HPS-1) is an autosomal recessive disorder caused by mutations in HPS1 which result in reduced expression of the HPS-1 protein, defective lysosome-related organelle (LRO) transport and absence of platelet delta granules. "
11/01/2014 - "Hermansky-Pudlak syndrome 6 protein (HPS6) has originally been identified as a subunit of the BLOC-2 protein complex that is involved in the biogenesis of lysosome-related organelles. "

01/01/2022 - "One of the genes responsible for Hermansky-Pudlak syndrome, hps1, regulates organelle biogenesis and thus plays important roles in melanin production, blood clotting, and the other organelle-related functions in humans and mice. "
01/01/2018 - "Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9."
01/01/2017 - "In humans, Hermansky-Pudlak syndrome results in pigmentation defects due to disrupted formation of the melanin-containing lysosomal-related organelle (LRO), the melanosome. "
02/01/1982 - "The melanin pigmentary disorder in a family with Hermansky-Pudlak syndrome."
10/01/2016 - "This retrospective review identified 170 individuals with a specific type of albinism identified by mutation(s) in a gene known to cause albinism (for OCA1, OCA2, and Hermansky-Pudlak syndrome ([HPS]) or a specific phenotype (white hair and no melanin pigment in OCA1A; pigmentary mosaicism in the obligate carriers for males with OA1). "

01/01/2005 - "In a study of patients with pulmonary fibrosis associated with Hermansky-Pudlak syndrome in the United States, pirfenidone slowed the decrease in %FVC in patients with a %FVC of >60%, but had no significant effects on patients with a %FVC of < or =60%. "
01/01/2018 - "Effects of long-term open-label pirfenidone were evaluated in a small cohort with Hermansky-Pudlak syndrome (HPS), a rare autosomal recessive disorder with highly penetrant pulmonary fibrosis. "
01/01/2018 - "Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis."
06/01/2011 - "Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis."
11/15/2005 - "The Bonferroni procedure is illustrated on the results of a real clinical trial of Pirfenidone on pulmonary fibrosis in Hermansky-Pudlak Syndrome."

06/01/2015 - "Reply: circulating fibrocytes as a biomarker of prognosis in Hermansky-Pudlak syndrome."
06/01/2015 - "Circulating fibrocytes as a biomarker of prognosis in Hermansky-Pudlak syndrome."
12/15/2014 - "Circulating fibrocytes as biomarker of prognosis in Hermansky-Pudlak syndrome."
12/15/2014 - "Hermansky-Pudlak syndrome (HPS), a genetic cause of ILD in early adulthood, allows for study of biomarkers of ILD in a homogeneous population at near-certain risk of developing fibrotic lung disease. "
03/01/2017 - "Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism."

04/01/2022 - "Lung Transplantation for Pulmonary Fibrosis Associated With Hermansky-Pudlak Syndrome. "
01/01/2018 - "Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation."
10/01/2005 - "Successful bilateral lung transplantation for pulmonary fibrosis associated with the Hermansky-Pudlak syndrome."
02/01/2019 - "Extracorporeal Membrane Oxygenation Bridge to Lung Transplantation in a Patient with Hermansky-Pudlak Syndrome and Progressive Pulmonary Fibrosis."
12/01/2006 - "A 55-year-old female patient with Hermansky-Pudlak syndrome (albinism, thrombopathia and ceroid accumulation) underwent a single lung transplantation for pulmonary fibrosis. "

01/01/2021 - "Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics."
11/01/2011 - "Therapy refractory menorrhagia as first manifestation of Hermansky-Pudlak syndrome."
01/01/2023 - "She was treated with an antifibrotic drug and long-term oxygen therapy for Hermansky-Pudlak syndrome-related pulmonary fibrosis. "

03/09/2021 - "This case illustrates the importance of considering platelet transfusion and/or administration during minor surgical procedures for patients with bleeding diathesis such as Hermansky-Pudlak syndrome."

10/01/2008 - "Two successful vaginal births after cesarean section in a patient with Hermansky-Pudlak syndrome who was treated with 1-deamino-8-arginine-vasopression during labor."

02/01/2019 - "Extracorporeal Membrane Oxygenation Bridge to Lung Transplantation in a Patient with Hermansky-Pudlak Syndrome and Progressive Pulmonary Fibrosis."