Results 11 to 20 of about 4,832 (184)

Application of Forced Oscillation Technique in Assessing Pulmonary Fibrosis in Hermansky–Pudlak Syndrome [PDF]

Advances in Respiratory Medicine
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defects in lysosome-related organelles. Given the high mortality rate associated with HPS pulmonary fibrosis (PF) and the significant risks tied to lung ...
Wilfredo De Jesús-Rojas, Luis Reyes-Peña, José Muñiz-Hernandez, Rolando Mena-Ventura, Gabriel Camareno-Soto, Gabriel Rosario-Ortiz, Marcos J. Ramos-Benitez, Monica Egozcue-Dionisi, Enid Rivera-Jimenez, Rosa Román-Carlo   +9 more
doaj   +2 more sources

After an initial Hermansky–Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report [PDF]

Molecular Genetics & Genomic Medicine
Background Albinism is a heterogeneous condition in which patients present complete absence, reduction, or normal pigmentation in skin, hair and eyes in addition to ocular defects.
Joseline Serrano‐González, Ingrid Montes‐Rodríguez, Jessicca Y. Renta, Ricardo Rojas, Carmen L. Cadilla   +4 more
doaj   +2 more sources

Hermansky-Pudlak syndrome: Mutation update. [PDF]

Hum Mutat, 2020
Hermansky-Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem disorders, each defined by the deficiency of a specific gene. HPS-associated genes encode components of four ubiquitously expressed protein complexes: Adaptor protein-3 (AP-3) and biogenesis of lysosome-related organelles complex-1 (BLOC-1) through -3. All individuals with
Huizing M, Malicdan MCV, Wang JA, Pri-Chen H, Hess RA, Fischer R, O'Brien KJ, Merideth MA, Gahl WA, Gochuico BR.   +9 more
europepmc   +4 more sources

Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3 [PDF]

Frontiers in Genetics
BackgroundHermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder with phenotypic and genetic heterogeneity, characterized by oculocutaneous albinism, bleeding diathesis, and other specific subtypes such as colitis.
Jingqun Mai, Jingqun Mai, Zhu Zhang, Zhu Zhang, Bocheng Xu, Bocheng Xu, Shanling Liu, Shanling Liu, He Wang, He Wang, Hao Wang, Hao Wang, Shuo Yang, Shuo Yang   +13 more
doaj   +2 more sources

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

Hermansky-Pudlak Syndrome [PDF]

Journal of Osteopathic Medicine, 2022
Ambur, Austin, Nyckowski, Timothy A.
core   +4 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 [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: 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