ALLMedicine™ Hermansky-Pudlak Syndrome Center

Feb 9th, 2021 - 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 recessiv...

Feb 5th, 2021 - Hermansky-Pudlak syndrome 9 (HPS-9) is a recessive disorder caused by BLOC1S6 gene. There are only four variants identified from four HPS-9 patients so far. Here, we reported the first HPS-9 patient in a Chinese population. He had brownish-yellow ...

Feb 4th, 2021 - Pulmonary fibrosis is a progressive interstitial lung disease of unknown aetiology with a poor prognosis. Studying genetic diseases associated with pulmonary fibrosis provides insights into the pathogenesis of the disease. Hermansky-Pudlak syndrom...

Feb 1st, 2021 - Hermansky-Pudlak syndrome (HPS) is a rare autosomal-recessive disorder with clinical manifestations of bleeding diathesis, multi-organ disease and variable oculocutaneous albinism. In women, it can cause life-threatening obstetric and gynecologica...

Jan 29th, 2021 - Lysosome-related organelles (LROs) are a category of secretory organelles enriched with ions such as Ca2+, which are maintained by ion transporters or channels. Homeostasis of these ions is important for LRO biogenesis and secretion. Hermansky-Pud...

Feb 9th, 2021 - 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 recessiv...

Feb 5th, 2021 - Hermansky-Pudlak syndrome 9 (HPS-9) is a recessive disorder caused by BLOC1S6 gene. There are only four variants identified from four HPS-9 patients so far. Here, we reported the first HPS-9 patient in a Chinese population. He had brownish-yellow ...

Feb 4th, 2021 - Pulmonary fibrosis is a progressive interstitial lung disease of unknown aetiology with a poor prognosis. Studying genetic diseases associated with pulmonary fibrosis provides insights into the pathogenesis of the disease. Hermansky-Pudlak syndrom...

Feb 1st, 2021 - Hermansky-Pudlak syndrome (HPS) is a rare autosomal-recessive disorder with clinical manifestations of bleeding diathesis, multi-organ disease and variable oculocutaneous albinism. In women, it can cause life-threatening obstetric and gynecologica...

Jan 29th, 2021 - Lysosome-related organelles (LROs) are a category of secretory organelles enriched with ions such as Ca2+, which are maintained by ion transporters or channels. Homeostasis of these ions is important for LRO biogenesis and secretion. Hermansky-Pud...

Feb 10th, 2016 - SIM image of platelets Courtesy of Dan Cutler A proof-of-concept study suggests structured illumination microscopy (SIM) enables accurate diagnosis of Hermansky-Pudlak syndrome (HPS), an autosomal recessive disorder characterized by platelet dysfu.

Literature Review/Discussion General aspects. In a classic study in Puerto Rico, of 693 persons with albinism, HPS was found in 495 (approximately 5/6 albino Puerto Ricans).[9] In the affected subjects, the consistent finding was storage pool defi...

Abstract and Introduction Hermansky-Pudlak syndrome (HPS) is an autosomal recessive inherited disease consisting of (1) partial oculocutaneous albinism (with nystagmus, strabism, and visual acuity loss), (2) platelet storage pool deficiency (with ...