Results 11 to 20 of about 4,782 (148)

Recurrent perianal abscess in a patient with Hermansky-Pudlak syndrome–associated granulomatous colitis: a case report [PDF]

Annals of Coloproctology
Hermansky-Pudlak syndrome (HPS) is a rare genetic disease consisting of the triad of oculocutaneous albinism, bleeding diathesis, and pigmented reticuloendothelial cells.
Ahmet Omak, Tevfik Kıvılcım Uprak, Wafi Attaallah   +2 more
doaj   +2 more sources

Amelanotic melanoma in a patient with Hermansky-Pudlak syndrome [PDF]

JAAD Case Reports, 2022
Ryan Fan, BA, Margaret S. Johnston, MD, Michael F. Gowen, MD, William Damsky, MD, PhD, Ian Odell, MD, PhD, James Clune, MD, Matthew D. Vesely, MD, PhD   +6 more
doaj   +2 more sources

Hermansky-Pudlak Syndrome: From Molecular Pathogenesis to Targeted Therapies. [PDF]

IUBMB Life
ABSTRACT Hermansky‐Pudlak syndrome (HPS) is a rare inherited disorder caused by defects in lysosome‐related organelles (LROs) in various tissues, including platelets, melanocytes, and endothelial cells. Key features of HPS include oculocutaneous albinism, bleeding tendency, and, in some cases, pulmonary fibrosis, granulomatous colitis, and ...
Tondi F, Cirsmaru RA, Conti C, Follenzi A, Gresele P, Olgasi C, Bury L.   +6 more
europepmc   +2 more sources

Hermansky–Pudlak Syndrome Type 6 Accompanied with Bowel Vascular Malformation: Clinical Case

Вопросы современной педиатрии, 2021
Background. Hermansky–Pudlak syndrome type 6 is rare hereditary disease caused by pathogenic variants in base sequence, deletions, and insertions in the HPS6 gene encoding the transmembrane protein of the same name.
Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Suhanova, Grigorii V. Revunenekov, Olga B. Gordeeva, Maria V. Egorova, Dmitriy S. Ovchinnikov, Vitaliy V. Kadyshev, Rena A. Zhinchenko, Leyla S. Namazova-Baranova   +9 more
doaj   +1 more source

Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism

Acta Chimica Slovenica, 2021
Oculocutaneous albinism (OCA) is an inherited disorder affecting the visual system and skin pigmentation. Our aim was to evaluate genetic and clinical heterogeneity in a cohort of Slovenian paediatric patients with clinically suspected OCA using advanced
Tinka Hovnik, Maruša Debeljak, Manca Tekavčič Pompe, Sara Bertok, Tadej Battelino, Brabka Stirn Kranjc, Katarina Trebušak Podkrajšek   +6 more
doaj   +1 more source

Hermansky-Pudlak Syndrome: A Case Report

Case Reports in Hematology, 2014
Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention.
Ilhami Berber, Mehmet Ali Erkurt, Irfan Kuku, Emin Kaya, Mustafa Koroglu, Ilknur Nizam, Mehmet Gul, Recep Bentli   +7 more
doaj   +2 more sources

A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies

Platelets, 2021
Hermansky-Pudlak syndrome (HPS) is a rare form of syndromic oculocutaneous albinism caused by disorders in lysosome‐related organelles. Ten genes are associated with different forms of HPS.
Vincent Michaud, Mathieu Fiore, Valentine Coste, Yoann Huguenin, Jean-Claude Bordet, Claudio Plaisant, Eulalie Lasseaux, Fanny Morice-Picard, Benoit Arveiler   +8 more
doaj   +1 more source

Insights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse model. [PDF]

FEBS Lett
Hermansky‐Pudlak syndrome type 1 (HPS‐1) is a rare, autosomal recessive disorder with poorly understood renal involvement. Urinary extracellular vesicle (uEV) proteomics and a novel Hps1 mouse model reveal mitochondrial abnormalities and lipid accumulation in HPS‐1 kidney proximal tubule cells. Serum ApoA1 correlates with kidney function in our patient
Maynard DM, Gochuico BR, Pri Chen H, Bleck CKE, Zerfas PM, Introne WJ, Gahl WA, Malicdan MCV.   +7 more
europepmc   +2 more sources

Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report

BMC Gastroenterology, 2019
Background Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous disorder that manifests oculocutaneous albinism together with bleeding diatheses that reflect a platelet storage pool deficiency.
Jun Ishihara, Tatsuki Mizuochi, Takashi Uchida, Yugo Takaki, Ken-ichiro Konishi, Masahiko Joo, Yasuhiko Takahashi, Shinichiro Yoshioka, Hironori Kusano, Yoji Sasahara, Yushiro Yamashita   +10 more
doaj   +1 more source

Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells

Haematologica, 2019
Weibel-Palade bodies are endothelial secretory organelles that contain von Willebrand factor, P-selectin and CD63. Release of von Willebrand factor from Weibel-Palade bodies is crucial for platelet adhesion during primary hemostasis.
Ellie Karampini, Maaike Schillemans, Menno Hofman, Floris van Alphen, Martin de Boer, Taco W. Kuijpers, Maartje van den Biggelaar, Jan Voorberg, Ruben Bierings   +8 more
doaj   +1 more source