Results 21 to 30 of about 4,832 (184)

Hermansky-Pudlak Syndrome [PDF]

Clinics in Chest Medicine, 2016
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diatheses, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4.
Souheil, El-Chemaly, Lisa R, Young
openaire   +2 more sources

Síndrome de Hermansky - Pudlak

Brazilian Journal of Health Review, 2022
Introdução: a síndrome de hermansky – pudlak é uma doença genética caracterizada por albinismo oculocutâneo, disfunção plaquetária, e em alguns casos também há colite, insuficiência renal e fibrose pulmonar. Apresentação do caso: paciente, 4 anos, buscou atendimento para investigação de episódios frequentes de gengivorragia, epistaxe e hematomas nos ...
Sá, Jônatas Ferreira de, Freitas, Yago José Fagundes de, Amorim, Gabriela Echenique, Franco, Natália Rezende, Nakao, Rodrigo Lima, Kakumoto, Marília Alves, Sá, Jana Lopes de, Silva, Sabrina de Castro, Rodrigues, Thais Morais, Neme, Thais Helena Paro, Salgado, Uanda Beatriz Pereira, Velasco, Júlia Sanches de, Teston, Victória Maria Grandeaux, Filho, Robson Pierre Pacífico Alves, Dantas, Camila Pizarro, Sousa, João Rafael Alencar de, Chagas, Jaqueline Maria de Azevedo, Cipriano, Fernando Neves, Mocellin, Amanda Pereira, Fonseca, Abner Lourenço da, Braga, Aline Almeida, Pacheco, Camila Graziele Fontes, Pereira, Franciely dos Passos, Santos, Jordânia   +23 more
openaire   +2 more sources

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

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

Hermansky-Pudlak-Syndrom

Der Ophthalmologe, 2012
A 1-year-old female child suffering from nystagmus and abnormal head posture (AHP) was presented by the parents in our clinic. The family history revealed the presence of von Willebrand's disease in both parents. General examination showed a female child with light blond colored skin accompanied by black-haired parents.
Atili, A., Luebke, Jennifer, Shoukier, Moneef, Schittkowski, Michael P.   +3 more
openaire   +3 more sources

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

Technical Note: The Use of RNA-interference as a Tool to Find Proteins Involved in Melanosome Formation or Transport [PDF]

, 2009
Melanosomes are lysosome-related organelles that produce and transport the pigment melanin within melanocytes. Mutations in proteins required for melanosome transport and formation lead to a range of pigmentation defects, manifested at the cellular level
Daniela Rotin, Eva M. Amsen
core   +2 more sources

Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood [PDF]

, 2018
Background: Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes.
Brasch, F. (Frank), Griese, M. (Matthias), Grosse-Onnebrink, J. (Joerg), Guenther, A. (Andreas), Hengst, M. (Meike), Ley-Zaporozhan, J. (Julia), Mahavadi, P. (Poornima), Naehrlich, L. (Lutz), Reu, S. (Simone), Schuch, L.A. (Luise A.), Skanke, L.Hø. (Lars Høsøien), Terheggen-Lagro, S. (Suzanne)   +11 more
core   +2 more sources