Results 21 to 30 of about 1,223,862 (192)

Hermansky–Pudlak Syndrome [PDF]

Seminars in Respiratory and Critical Care Medicine, 2020
AbstractHermansky–Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis (PF) in some HPS subtypes. During middle adulthood, ground-glass opacities, reticulation, and traction bronchiectasis develop with progression of PF. HPS is an orphan disease
Wilfredo, De Jesus Rojas, Lisa R, Young
  +6 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

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

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

IUBMB Life
: 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.
Tondi F, Cirsmaru RA, Conti C, Follenzi A, Gresele P, Olgasi C, Bury L.   +6 more
europepmc   +2 more sources

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome. [PDF]

Int J Mol Sci
Hermansky–Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. They are associated with impaired function of the BLOC protein complex (Biogenesis of Lysosome-related Organelles ...
Bobreshova AM, Ionova SA, Kadyshev VV, Sukhanova NV, Viakhireva IV, Filatova AY, Zhurkova NV, Sparber PA, Marakhonov AV, Vasilyeva TA, Shchagina OA, Kutsev SI, Zinchenko RA.   +12 more
europepmc   +2 more sources

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, Eva Amsen
core   +1 more source

Novel Hermansky–Pudlak Syndrome Type I Variant in Hermansky–Pudlak Syndrome [PDF]

Indian Journal of Respiratory Care
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism (OCA), a bleeding tendency due to platelet dysfunction, and organ pigment accumulation (ceroid lipofuscin in tissues).
Sandesh S, Sanjay S, Harsha H
doaj   +1 more source

Hermansky–Pudlak Syndrome a Case Report [PDF]

, 2015
We report a case of Hermansky –Pudlak syndrome in a 34 year old lady who was born of non consanguineous marriage The incidence of HPS is highest in Puerto Rico.There are increasing reports of HPS among Indians.
Grace, Mary, P, Arun, V K, Shameer, Akhilesh, Akhilesh   +3 more
core   +1 more source

In Vitro Disease Modeling of Hermansky-Pudlak Syndrome Type 2 Using Human Induced Pluripotent Stem Cell-Derived Alveolar Organoids

Stem Cell Reports, 2019
Summary: It has been challenging to generate in vitro models of alveolar lung diseases, as the stable culture of alveolar type 2 (AT2) cells has been difficult.
Yohei Korogi, Shimpei Gotoh, Satoshi Ikeo, Yuki Yamamoto, Naoyuki Sone, Koji Tamai, Satoshi Konishi, Tadao Nagasaki, Hisako Matsumoto, Isao Ito, Toyofumi F. Chen-Yoshikawa, Hiroshi Date, Masatoshi Hagiwara, Isao Asaka, Akitsu Hotta, Michiaki Mishima, Toyohiro Hirai   +16 more
doaj   +1 more source