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About 637 results

ALLMedicine™ Hermansky-Pudlak Syndrome Center

Research & Reviews  315 results

Hermansky-Pudlak syndrome-2 alters mitochondrial homeostasis in the alveolar epithelium...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7871590
Respiratory Research; Cuevas-Mora K, Roque W et. al.

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...

The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese p...
https://doi.org/10.1111/1346-8138.15762
The Journal of Dermatology; Liu T, Yuan Y et. al.

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 ...

Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease.
https://doi.org/10.1183/16000617.0193-2020
European Respiratory Review : an Official Journal of the ... Yokoyama T, Gochuico BR

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...

The presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecologi...
https://doi.org/10.1002/ijgo.13632
International Journal of Gynaecology and Obstetrics: the ... Obeng-Tuudah D, Hussein BA et. al.

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...

A zinc transporter, transmembrane protein 163 (TMEM163), is critical for the biogenesis...
https://doi.org/10.1182/blood.2020007389
Blood Yuan Y, Liu T et. al.

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...

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Clinicaltrials.gov  319 results

Hermansky-Pudlak syndrome-2 alters mitochondrial homeostasis in the alveolar epithelium...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7871590
Respiratory Research; Cuevas-Mora K, Roque W et. al.

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...

The first Hermansky-Pudlak syndrome type 9 patient with two novel variants in Chinese p...
https://doi.org/10.1111/1346-8138.15762
The Journal of Dermatology; Liu T, Yuan Y et. al.

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 ...

Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease.
https://doi.org/10.1183/16000617.0193-2020
European Respiratory Review : an Official Journal of the ... Yokoyama T, Gochuico BR

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...

The presentation and outcomes of Hermansky-Pudlak syndrome in obstetrics and gynecologi...
https://doi.org/10.1002/ijgo.13632
International Journal of Gynaecology and Obstetrics: the ... Obeng-Tuudah D, Hussein BA et. al.

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...

A zinc transporter, transmembrane protein 163 (TMEM163), is critical for the biogenesis...
https://doi.org/10.1182/blood.2020007389
Blood Yuan Y, Liu T et. al.

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...

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News  3 results

Method could improve diagnosis of platelet disorders
https://www.mdedge.com/hematology-oncology/article/188476/thrombosis/method-could-improve-diagnosis-platelet-disorders
HT Staff

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.

A Clinical Variant of Familial Hermansky-Pudlak Syndrome
https://www.medscape.com/viewarticle/448111_3

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...

A Clinical Variant of Familial Hermansky-Pudlak Syndrome
https://www.medscape.com/viewarticle/448111

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 ...

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