Results 11 to 20 of about 1,230,655 (143)

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

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

Fetal pulmonary fibrosis due to Hermanski-Pudlak syndrome (HPS): a rare case report with open lung biopsy findings

, 2020
Hermanski-Pudlak Syndrome (HPS) is an extremely rare autosomal recessive disorder. Albinism, bleeding diathesis and other associated complications are the main manifestations of HSP.
Aligolighasemabadi, Farnaz, Sadeghdoust, Mohammadamin, Alavi Foumani, Ali, Aligolighasemabadi, Neda   +3 more
core   +1 more source

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

BMC Gastroenterol, 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.
Ishihara J, Mizuochi T, Uchida T, Takaki Y, Konishi KI, Joo M, Takahashi Y, Yoshioka S, Kusano H, Sasahara Y, Yamashita Y.   +10 more
europepmc   +2 more sources

Recurrent Perianal Abscess in a Patient With Hermansky-Pudlak Syndrome Associated Granulomatous Colitis: A Case Report [PDF]

, 2021
Hermansky-Pudlak syndrome (HPS) is a rare genetic disease consisting of the triad of oculocutaneous albinism, bleeding diathesis, and pigmented reticuloendothelial cells.
UPRAK, TEVFİK KIVILCIM, Tevfik Kıvılcım Uprak, Ahmet Omak, Wafi Attaallah, Attaallah, Wafi, Uprak, Tevfik Kıvılcım, Omak, Ahmet   +6 more
core   +2 more sources

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

Chest computed tomography scans in Hermansky-Pudlak syndrome pulmonary fibrosis patients before and after lung transplantation.

, 2018
Representative computed tomography scan images of the chest from one patient with Hermansky-Pudlak syndrome pulmonary fibrosis showing diffuse bilateral interstitial infiltrates at the time of referral for lung transplantation (A) and 6 years after ...
Ye Cui (2273386), Kevin J. O’Brien (3147789), Steven D. Nathan (355595), Ivan O. Rosas (315478), Jean M. Connors (4971772), Philip C. Camp Jr. (4971781), Melissa A. Merideth (4971778), Bernadette R. Gochuico (355593), Vladislav Speransky (4971766), William A. Gahl (169534), Todd L. Astor (4971769), Souheil El-Chemaly (705219), Merte Lemma (4971775), Gerald L. Weinhouse (4971784), Hilary J. Goldberg (3097875)   +14 more
core   +1 more source

Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development.

, 2002
Hermansky-Pudlak syndrome is an autosomal recessive disease characterized by pigment dilution and prolonged bleeding time. At least 15 mutant mouse strains have been classified as models of Hermansky-Pudlak syndrome.
Nguyen, T, Peters, L L, Fluhr, J, Kermani, M, Novak, E K, Swank, R T, Wei, M L   +6 more
core   +2 more sources

Complicated granulomatous colitis in a patient with Hermansky-Pudlak syndrome, successfully treated with infliximab

, 2006
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder which is characterised by the triad of oculocutaneous albinism, platelet dysfunction and accumulation of ceroidlike pigment in ...
Erzin, Yusuf, Tuncer, Murat, Dobrucali, Ahmet, Dobrucali, Ahmet Merih, Tasyurekli, Mustafa, Erdamar, Sibel, Cosgun, SÜLEYMAN   +6 more
core   +2 more sources