Works matching Hermansky-Pudlak syndrome

Results: 370

The pink gene encodes the Drosophila orthologue of the human Hermansky–Pudlak syndrome 5 (HPS5) gene.

Published in:

Genome, 2007, v. 50, n. 6, p. 548, doi. 10.1139/G07-032

By:

Syrzycka, Monika;
McEachern, Lori A.;
Kinneard, Jennifer;
Prabhu, Kristel;
Fitzpatrick, Kathleen;
Schulze, Sandra;
Rawls, John M.;
Lloyd, Vett K.;
Sinclair, Donald A. R.;
Honda, Barry M.

Publication type:

Article

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

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1465527

By:

Mai, Jingqun;
Zhang, Zhu;
Xu, Bocheng;
Liu, Shanling;
Wang, He;
Wang, Hao;
Yang, Shuo

Publication type:

Article

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

Published in:

2019

By:

Ishihara, Jun;
Mizuochi, Tatsuki;
Uchida, Takashi;
Takaki, Yugo;
Konishi, Ken-ichiro;
Joo, Masahiko;
Takahashi, Yasuhiko;
Yoshioka, Shinichiro;
Kusano, Hironori;
Sasahara, Yoji;
Yamashita, Yushiro

Publication type:

journal article

Dermatologic manifestations in patients with the Hermansky-Pudlak syndrome types 1 and 3.

Published in:

2022

By:

Santos Malave, Gabriel;
Izquierdo, Natalio J.;
Sanchez, Nestor P.

Publication type:

journal article

Crohn's-like colitis, enterocolitis and perianal disease in Hermansky–Pudlak syndrome.

Published in:

Colorectal Disease, 2006, v. 8, n. 7, p. 539, doi. 10.1111/j.1463-1318.2006.01046.x

By:

Hazzan, D.;
Seward, S.;
Stock, H.;
Zisman, S.;
Gabriel, K.;
Harpaz, N.;
Bauer, J. J.

Publication type:

Article

Iga nephropathy, antineutrophil cytoplasmic antibodies and crescentic glomerulonephritis in a patient with the Hermansky-Pudlak syndrome.

Published in:

2001

By:

Tagboto, Senyo;
Carr, Sue;
Varghese, Anitha;
Allen, Alice;
Feehally, John;
Furness, Peter;
Tagboto, S;
Carr, S;
Varghese, A;
Allen, A;
Feehally, J;
Furness, P

Publication type:

journal article

Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.

Published in:

Pigment Cell & Melanoma Research, 2017, v. 30, n. 6, p. 563, doi. 10.1111/pcmr.12608

By:

Michaud, Vincent;
Lasseaux, Eulalie;
Plaisant, Claudio;
Verloes, Alain;
Perdomo ‐ Trujillo, Yaumara;
Hamel, Christian;
Elcioglu, Nursel H.;
Leroy, Bart;
Kaplan, Josseline;
Jouk, Pierre ‐ Simon;
Lacombe, Didier;
Fergelot, Patricia;
Morice ‐ Picard, Fanny;
Arveiler, Benoit

Publication type:

Article

NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.

Published in:

Pigment Cell & Melanoma Research, 2016, v. 29, n. 6, p. 702, doi. 10.1111/pcmr.12534

By:

Wei, Aihua;
Yuan, Yefeng;
Bai, Dayong;
Ma, Jing;
Hao, Zhenhua;
Zhang, Yingzi;
Yu, Jiaying;
Zhou, Zhiyong;
Yang, Lin;
Yang, Xiumin;
Li, Li;
Li, Wei

Publication type:

Article

Simple chronic colitis model using hypopigmented mice with a Hermansky-Pudlak syndrome 5 gene mutation.

Published in:

Pigment Cell & Melanoma Research, 2016, v. 29, n. 5, p. 578, doi. 10.1111/pcmr.12504

By:

Itoh, Yumi;
Nagaoka, Yasuo;
Katakura, Yoshio;
Kawahara, Hidehisa;
Takemori, Hiroshi

Publication type:

Article

Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype.

Published in:

Platelets, 2013, v. 24, n. 7, p. 538, doi. 10.3109/09537104.2012.741275

By:

Kurnik, Karin;
Bartsch, Ingrid;
Maul-Pavicic, Andrea;
Ehl, Stephan;
Sandrock-Lang, Kirstin;
Bidlingmaier, Christoph;
Rombach, Nina;
Busse, Anja;
Belohradsky, Bernd H.;
Müller-Höcker, Josef;
Aslanidis, Charalampos;
Schmitz, Gerd;
Zieger, Barbara

Publication type:

Article

High Frequency of Hermansky–Pudlak Syndrome Type 1 (HPS1) Among Japanese Albinism Patients and Functional Analysis of HPS1 Mutant Protein.

Published in:

Journal of Investigative Dermatology, 2005, v. 125, n. 4, p. 715, doi. 10.1111/j.0022-202X.2005.23884.x

By:

Ito, Shiro;
Suzuki, Tamio;
Inagaki, Katsuhiko;
Suzuki, Noriyuki;
Takamori, Kenji;
Yamada, Tomoko;
Nakazawa, Mitsuru;
Hatano, Michihiro;
Takiwaki, Hirotsugu;
Kakuta, Yumi;
Spritz, Richard A.;
Tomita, Yasushi

Publication type:

Article

Hermansky- Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis.

Published in:

Pigment Cell & Melanoma Research, 2013, v. 26, n. 2, p. 176, doi. 10.1111/pcmr.12051

By:

Wei, Ai‐Hua;
Li, Wei

Publication type:

Article

Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.

Published in:

Pediatric Dermatology, 2017, v. 34, n. 6, p. 638, doi. 10.1111/pde.13266

By:

Loredana Asztalos, Manuela;
Schafernak, Kristian T.;
Gray, Jayla;
Berry, Adam;
Paller, Amy S.;
Mancini, Anthony J.

Publication type:

Article

Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes.

Published in:

Genes, 2023, v. 14, n. 1, p. 145, doi. 10.3390/genes14010145

By:

Zaman, Qaiser;
Sadeeda;
Anas, Muhammad;
Rehman, Gauhar;
Khan, Qadeem;
Iftikhar, Aiman;
Ahmad, Mashal;
Owais, Muhammad;
Ahmad, Ilyas;
Muthaffar, Osama Yousef;
Abdulkareem, Angham Abdulrhman;
Bibi, Fehmida;
Jelani, Musharraf;
Naseer, Muhammad Imran

Publication type:

Article

Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome.

Published in:

British Journal of Haematology, 2017, v. 176, n. 1, p. 118, doi. 10.1111/bjh.14390

By:

Gil‐Krzewska, Aleksandra;
Murakami, Yousuke;
Peruzzi, Giovanna;
O'Brien, Kevin J.;
Merideth, Melissa A.;
Cullinane, Andrew R.;
Gahl, William A.;
Coligan, John E.;
Gochuico, Bernadette R.;
Krzewski, Konrad

Publication type:

Article

A novel mutation in a Turkish patient with Hermansky–Pudlak syndrome type 5.

Published in:

European Journal of Haematology, 2008, v. 80, n. 4, p. 356, doi. 10.1111/j.1600-0609.2007.01024.x

By:

Korswagen, Lindy-Anne;
Huizing, Marjan;
Simsek, Suat;
Janssen, Jeroen J. W. M.;
Zweegman, Sonja

Publication type:

Article

Histochemical and cellular changes accompanying the appearance of lung fibrosis in an experimental mouse model for Hermansky Pudlak syndrome.

Published in:

Histochemistry & Cell Biology, 2010, v. 134, n. 2, p. 205, doi. 10.1007/s00418-010-0724-8

By:

Wang, Lingyan;
Lyerla, Timothy

Publication type:

Article

Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.

Published in:

2018

By:

Hengst, Meike;
Naehrlich, Lutz;
Mahavadi, Poornima;
Grosse-Onnebrink, Joerg;
Terheggen-Lagro, Suzanne;
Skanke, Lars Høsøien;
Schuch, Luise A.;
Brasch, Frank;
Guenther, Andreas;
Reu, Simone;
Ley-Zaporozhan, Julia;
Griese, Matthias;
Skanke, Lars Høsøien

Publication type:

journal article

Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report.

Published in:

2019

By:

Doubková, Martina;
Trizuljak, Jakub;
Vrzalová, Zuzana;
Hrazdirová, Anna;
Blaháková, Ivona;
Radová, Lenka;
Pospíšilová, Šárka;
Doubek, Michael

Publication type:

journal article

Inflammatory bowel disease in Hermansky–Pudlak syndrome: a retrospective single‐centre cohort study.

Published in:

Journal of Internal Medicine, 2021, v. 290, n. 1, p. 129, doi. 10.1111/joim.13224

By:

O'Brien, K. J.;
Parisi, X.;
Shelman, N. R.;
Merideth, M. A.;
Introne, W. J.;
Heller, T.;
Gahl, W. A.;
Malicdan, M. C. V.;
Gochuico, B. R.

Publication type:

Article

Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.

Published in:

2016

By:

Vicary, Glenn W.;
Vergne, Yeidyly;
Santiago-Cornier, Alberto;
Young, Lisa R.;
Roman, Jesse

Publication type:

journal article

Hermansky Pudlak Syndrome Type 2: A Rare Case Report.

Published in:

Journal of Krishna Institute of Medical Sciences (JKIMSU), 2020, v. 9, n. 3, p. 97

By:

Chhaparwal, Yogesh;
Kumar, Mathangi;
Chhaparwal, Shubha

Publication type:

Article

Does Hermansky–Pudlak syndrome predispose to systemic lupus erythematosus?

Published in:

British Journal of Dermatology, 2002, v. 146, n. 5, p. 908, doi. 10.1046/j.1365-2133.2002.04670.x

By:

Mitsui, H;
Komine, M;
Watanabe, T;
Kikuchi, K;
Okochi, H;
Tamaki, K

Publication type:

Article

Bleeding assessment in female patients with the Hermansky‐Pudlak syndrome—A case series.

Published in:

European Journal of Haematology, 2019, v. 102, n. 5, p. 432, doi. 10.1111/ejh.13210

By:

Rivera‐Concepción, Joel;
Acevedo‐Canabal, Jorge;
Burés, Antonio;
Vargas, Gustavo;
Cadilla, Carmen;
Izquierdo, Natalio J.

Publication type:

Article

Oculocutaneous albinism and bruising in two sisters--probable Hermansky-Pudlak syndrome.

Published in:

Journal of the Royal Society of Medicine, 1995, v. 88, n. 5, p. 293P

By:

Ellis, Julia P.;
Gray, Atherton;
Richards, Frances

Publication type:

Article

Acute exacerbation of combined pulmonary fibrosis and emphysema associated with Hermansky- Pudlak syndrome.

Published in:

Respirology Case Reports, 2016, v. 4, n. 1, p. 13, doi. 10.1002/rcr2.141

By:

Sugino, Keishi;
Gocho, Kyoko;
Kikuchi, Naoshi;
Shibuya, Kazutoshi;
Uekusa, Toshimasa;
Homma, Sakae

Publication type:

Article

Lung pathology of pale ear mouse (model of Hermansky–Pudlak syndrome 1) and beige mouse (model of Chediak–Higashi syndrome): Severity of giant lamellar body degeneration of type II pneumocytes correlates with interstitial inflammation.

Published in:

Pathology International, 2005, v. 55, n. 3, p. 137, doi. 10.1111/j.1440-1827.2005.01811.x

By:

Xiaoyan Tang;
Yamanaka, Shoji;
Miyagi, Yohei;
Nagashima, Yoji;
Nakatani, Yukio

Publication type:

Article

Hermansky-Pudlak syndrome-associated pneumothorax with rapid progression of respiratory failure: a case report.

Published in:

2020

By:

Kato, Yukari;
Kato, Motoyasu;
Ihara, Hiroaki;
Hayakawa, Eri;
Shibayama, Kohei;
Miura, Keita;
Yamada, Tomoko;
Mitsuishi, Yoichiro;
Shukuya, Takehito;
Ito, Jun;
Matsunaga, Takeshi;
Sato, Tadashi;
Suzuki, Kenji;
Takahashi, Kazuhisa

Publication type:

journal article

Osseointegrated Implants in a Patient With Hermansky-Pudlak Syndrome: A Case Report.

Published in:

International Journal of Oral & Maxillofacial Implants, 1994, v. 9, n. 3, p. 333

By:

Balshi, Thomas J.;
Hernandez, Ramon;
Shapiro, Steven A.

Publication type:

Article

Cellular, Molecular and Clinical Characterization of Patients with Hermansky–Pudlak Syndrome Type 5.

Published in:

2004

By:

Huizing, Marjan;
Hess, Richard;
Dorward, Heidi;
Claassen, David A.;
Helip-Wooley, Amanda;
Kleta, Robert;
Kaiser-Kupfer, Muriel I.;
White, James C.;
Gahl, William A.

Publication type:

Book Review

Characterization of BLOC-2, a Complex Containing the Hermansky–Pudlak Syndrome Proteins HPS3, HPS5 and HPS6.

Published in:

Traffic, 2004, v. 5, n. 4, p. 276, doi. 10.1111/j.1600-0854.2004.0171.x

By:

Di Pietro, Santiago M.;
Falcón-Pérez, Juan M.;
Dell'Angelica, Esteban C.

Publication type:

Article

Hermansky–Pudlak Syndrome and Related Disorders of Organelle Formation.

Published in:

Traffic, 2000, v. 1, n. 11, p. 823, doi. 10.1034/j.1600-0854.2000.011103.x

By:

Huizing, Marjan;
Anikster, Yair;
Gahl, William A.

Publication type:

Article

A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.

Published in:

Cells (2073-4409), 2021, v. 10, n. 10, p. 2630, doi. 10.3390/cells10102630

By:

Boeckelmann, Doris;
Wolter, Mira;
Käsmann-Kellner, Barbara;
Koehler, Udo;
Schieber-Nakamura, Lea;
Zieger, Barbara

Publication type:

Article

Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3 , HPS5, and DTNBP1 (HPS-7).

Published in:

Frontiers in Pharmacology, 2022, v. 12, p. 1, doi. 10.3389/fphar.2021.786937

By:

Boeckelmann, Doris;
Wolter, Mira;
Neubauer, Katharina;
Sobotta, Felix;
Lenz, Antonia;
Glonnegger, Hannah;
Käsmann-Kellner, Barbara;
Mann, Jasmin;
Ehl, Stephan;
Zieger, Barbara

Publication type:

Article

Hermansky Pudlak Syndrome Associated Pulmonary Fibrosis.

Published in:

Online Journal of Health & Allied Sciences, 2021, v. 20, n. 4, p. 1

By:

Manickam, Navakumar;
Gopalan, Kannan;
Manoharan, Vandhana;
Vellaisamy, Seethalakshmi Ganga

Publication type:

Article

Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics.

Published in:

Frontiers in Pharmacology, 2021, v. 11, p. N.PAG, doi. 10.3389/fphar.2021.644671

By:

Velázquez-Díaz, Pamela;
Nakajima, Erika;
Sorkhdini, Parand;
Hernandez-Gutierrez, Ashley;
Eberle, Adam;
Yang, Dongqin;
Zhou, Yang

Publication type:

Article

Hermansky-Pudlak Sendromlu Bir Olguya ait Klinik Özellikler.

Published in:

Gulhane Medical Journal, 2013, v. 55, n. 2, p. 146, doi. 10.5455/gulhane.39840

By:

Türk, Adem;
Fidan, Sami;
Uzun, Yusuf;
Ersöz, şafak

Publication type:

Article

Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome.

Published in:

2019

By:

Summer, Ross;
Krishna, Rachana;
Schriner, DeLeila;
Cuevas-Mora, Karina;
Sales, Dominic;
Para, Rachel;
Roman, Jesse;
Nieweld, Carl;
Gochuico, Bernadette R.;
Romero, Freddy

Publication type:

journal article

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Published in:

2019

By:

Power, Bradley;
Ferreira, Carlos R.;
Chen, Dong;
Zein, Wadih M.;
O'Brien, Kevin J.;
Introne, Wendy J.;
Stephen, Joshi;
Gahl, William A.;
Huizing, Marjan;
Malicdan, May Christine V.;
Adams, David R.;
Gochuico, Bernadette R.

Publication type:

journal article

Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky–Pudlak syndrome: role of insC974 in platelet function and clinical relevance.

Published in:

British Journal of Haematology, 2003, v. 123, n. 1, p. 132, doi. 10.1046/j.1365-2141.2003.04557.x

By:

Gonzalez-Conejero, Rocio;
Rivera, Jose;
Escolar, Gines;
Zuazu-Jausoro, Isabel;
Vicente, Vicente;
Corral, Javier

Publication type:

Article

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

Published in:

2024

By:

Serrano‐González, Joseline;
Montes‐Rodríguez, Ingrid;
Renta, Jessicca Y.;
Rojas, Ricardo;
Cadilla, Carmen L.

Publication type:

Case Study

Hermansky–Pudlak syndrome with interstitial lung disease: A holistically worked up couplet.

Published in:

Lung India, 2019, v. 36, n. 4, p. 345, doi. 10.4103/lungindia.lungindia_258_18

By:

Gupta, Abhishek;
Utpat, Ketaki;
Desai, Unnati;
Joshi, Jyotsna M.

Publication type:

Article

Synonymous but Significant: New Findings of Pathological Variants in Hermansky–Pudlak Syndrome.

Published in:

Pigment Cell & Melanoma Research, 2025, v. 38, n. 2, p. 1, doi. 10.1111/pcmr.13221

By:

Kawaguchi, Junnosuke;
Okamura, Ken;
Saito, Toru;
Arai, Yosuke;
Fujiwara, Sakuhei;
Kitamura, Miwa;
Tanizaki, Hideaki;
Hozumi, Yutaka;
Suzuki, Tamio

Publication type:

Article

New insights into the pathogenesis of Hermansky–Pudlak syndrome.

Published in:

Pigment Cell & Melanoma Research, 2022, v. 35, n. 3, p. 290, doi. 10.1111/pcmr.13030

By:

Li, Wei;
Hao, Chan‐Juan;
Hao, Zhen‐Hua;
Ma, Jing;
Wang, Qiao‐Chu;
Yuan, Ye‐Feng;
Gong, Juan‐Juan;
Chen, Yuan‐Ying;
Yu, Jia‐Ying;
Wei, Ai‐Hua

Publication type:

Article

Genetic variants and mutational spectrum of Chinese Hermansky–Pudlak syndrome patients.

Published in:

Pigment Cell & Melanoma Research, 2021, v. 34, n. 1, p. 111, doi. 10.1111/pcmr.12916

By:

Liu, Teng;
Yuan, Yefeng;
Bai, Dayong;
Qi, Zhan;
Yang, Lin;
Zhang, Tianjiao;
Yang, Xiumin;
Li, Wei;
Wei, Aihua

Publication type:

Article

Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome.

Published in:

Pigment Cell & Melanoma Research, 2021, v. 34, n. 1, p. 132, doi. 10.1111/pcmr.12915

By:

Pennamen, Perrine;
Tingaud‐Sequeira, Angèle;
Michaud, Vincent;
Morice‐Picard, Fanny;
Plaisant, Claudio;
Vincent‐Delorme, Catherine;
Giuliano, Fabienne;
Azarnoush, Saba;
Capri, Yline;
Marçon, Carolina;
Lacombe, Didier;
Lasseaux, Eulalie;
Arveiler, Benoît

Publication type:

Article

Donskoy cats as a new model of oculocutaneous albinism with the identification of a splice‐site variant in Hermansky–Pudlak Syndrome 5 gene.

Published in:

Pigment Cell & Melanoma Research, 2020, v. 33, n. 6, p. 814, doi. 10.1111/pcmr.12906

By:

Mériot, Marina;
Hitte, Christophe;
Rimbault, Maud;
Dufaure de Citres, Caroline;
Gache, Vincent;
Abitbol, Marie

Publication type:

Article

Instability of BLOC‐2 and BLOC‐3 in Chinese patients with Hermansky‐Pudlak syndrome.

Published in:

Pigment Cell & Melanoma Research, 2019, v. 32, n. 3, p. 373, doi. 10.1111/pcmr.12748

By:

Wei, Aihua;
Yuan, Yefeng;
Qi, Zhan;
Liu, Teng;
Bai, Dayong;
Zhang, Yingzi;
Yu, Jiaying;
Yang, Lin;
Yang, Xiumin;
Li, Wei

Publication type:

Article

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

Published in:

Platelets, 2021, v. 32, n. 3, p. 420, doi. 10.1080/09537104.2020.1742315

By:

Michaud, Vincent;
Fiore, Mathieu;
Coste, Valentine;
Huguenin, Yoann;
Bordet, Jean-Claude;
Plaisant, Claudio;
Lasseaux, Eulalie;
Morice-Picard, Fanny;
Arveiler, Benoit

Publication type:

Article

Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3.

Published in:

Platelets, 2020, v. 31, n. 7, p. 960, doi. 10.1080/09537104.2019.1704716

By:

Lecchi, Anna;
La Marca, Silvia;
Femia, Eti A;
Lenz, Antonia;
Boeckelmann, Doris;
Artoni, Andrea;
Peyvandi, Flora;
Zieger, Barbara

Publication type:

Article