Works matching DE "HERMANSKY-Pudlak syndrome"

Results: 40

Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation.

Published in:

PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0194193

By:

El-Chemaly, Souheil;
O’Brien, Kevin J.;
Nathan, Steven D.;
Weinhouse, Gerald L.;
Goldberg, Hilary J.;
Connors, Jean M.;
Cui, Ye;
Astor, Todd L.;
Jr.Camp, Philip C.;
Rosas, Ivan O.;
Lemma, Merte;
Speransky, Vladislav;
Merideth, Melissa A.;
Gahl, William A.;
Gochuico, Bernadette R.

Publication type:

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

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

Poster Maternal Medicine.

Published in:: BJOG: An International Journal of Obstetrics & Gynaecology, 2016, v. 123, p. 13, doi. 10.1111/1471-0528.13987
Publication type:: Article

BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery.

Published in:

Journal of Cell Biology, 2015, v. 209, n. 4, p. 563, doi. 10.1083/jcb.201410026

By:

Dennis, Megan K.;
Mantegazza, Adriana R.;
Snir, Olivia L.;
Tenza, Daniele;
Acosta-Ruiz, Amanda;
Delevoye, Cedric;
Zorger, Richard;
Sitaram, Anand;
de Jesus-Rojas, Wilfredo;
Ravichandran, Keerthana;
Rux, John;
Sviderskaya, Elena V.;
Bennett, Dorothy C.;
Raposo, Graça;
Marks, Michael S.;
Gangi Setty, Subba Rao

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

Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease.

Published in:

European Respiratory Review, 2021, v. 30, n. 159, p. 1, doi. 10.1183/16000617.0193-2020

By:

Tadafumi Yokoyama;
Gochuico, Bernadette R.

Publication type:

Article

Exogenous gene transfer of Rab<sup>3</sup>8 small GTPase ameliorates aberrant lung surfactant homeostasis in Ruby rats.

Published in:

2017

By:

Kazuhiro Osanai;
Keisuke Nakase;
Takashi Sakuma;
Kazuaki Nishiki;
Masafumi Nojiri;
Ryo Kato;
Masatoshi Saito;
Yuki Fujimoto;
Shiro Mizuno;
Hirohisa Toga;
Osanai, Kazuhiro;
Nakase, Keisuke;
Sakuma, Takashi;
Nishiki, Kazuaki;
Nojiri, Masafumi;
Kato, Ryo;
Saito, Masatoshi;
Fujimoto, Yuki;
Mizuno, Shiro;
Toga, Hirohisa

Publication type:

journal article

Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia.

Published in:

Croatian Medical Journal, 2018, v. 59, n. 1, p. 20, doi. 10.3325/cmj.2018.59.20

By:

Musani, Vesna;
Ozretić, Petar;
Trnski, Diana;
Sabol, Maja;
Poduje, Sanja;
Tošić, Mateja;
Šitum, Mirna;
Levanat, Sonja

Publication type:

Article

Causal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype.

Published in:

Experimental & Therapeutic Medicine, 2016, v. 11, n. 6, p. 2247, doi. 10.3892/etm.2016.3241

By:

NIU LI;
YU DING;
TINGTING YU;
JUAN LI;
YONGNIAN SHEN;
XIUMIN WANG;
QIHUA FU;
YIPING SHEN;
XIAODONG HUANG;
JIAN WANG

Publication type:

Article

Metastatic Cutaneous Involvement of Granulomatous Colitis in Hermansky-Pudlak Syndrome.

Published in:

Pediatric Dermatology, 2013, v. 30, n. 6, p. e278, doi. 10.1111/j.1525-1470.2012.01728.x

By:

Weitz, Nicole;
Patel, Vishal;
Tlougan, Brook;
Mencin, Ali;
Kadenhe‐Chiweshe, Angela;
Morel, Kimberly D.;
Lauren, Christine

Publication type:

Article

Coexistence of Hermansky-Pudlak syndrome and JAK2<sup>V617F</sup>-positive essential thrombocythemia.

Published in:

Ultrastructural Pathology, 2019, v. 43, n. 1, p. 94, doi. 10.1080/01913123.2019.1593269

By:

Eskazan, Tugce;
Erturkuner, Salime Pelin;
Isildar, Basak;
Eskazan, Ahmet Emre;
Ar, Muhlis Cem;
Atay, Kadri;
Baslar, Zafer;
Tasyurekli, Mustafa

Publication type:

Article

Case Report : Hermansky Pudlak Syndrome (Presenting as late onset heavy Menstrual Bleeding).

Published in:

2013

By:

RAY, AMITA;
RAY, SUJOY;
MATTHEW, JOSE JOHN

Publication type:

Case Study

Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula.

Published in:

Clinical Genetics, 2016, v. 90, n. 1, p. 96, doi. 10.1111/cge.12715

By:

Khan, A. O.;
Tamimi, M.;
Lenzner, S.;
Bolz, H. J.

Publication type:

Article

Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype.

Published in:

Platelets, 2018, v. 29, n. 1, p. 91, doi. 10.1080/09537104.2017.1361019

By:

Botero, Juliana Perez;
Chen, Dong;
Majerus, Julie A.;
Coon, Lea M.;
He, Rong;
Warad, Deepti M.;
Pruthi, Rajiv K.;
Nichols, William L.

Publication type:

Article

Development of the Swimbladder Surfactant System and Biogenesis of Lysosome-Related Organelles Is Regulated by BLOS1 in Zebrafish.

Published in:

Genetics, 2018, v. 208, n. 3, p. 1131, doi. 10.1534/genetics.117.300621

By:

Tianbing Chen;
Guili Song;
Huihui Yang;
Lin Mao;
Zongbin Cui;
Kaiyao Huang

Publication type:

Article

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

Published in:

PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0173682

By:

Stephen, Joshi;
Yokoyama, Tadafumi;
Tolman, Nathanial J.;
O’Brien, Kevin J.;
Nicoli, Elena-Raluca;
Brooks, Brian P.;
Huryn, Laryssa;
Titus, Steven A.;
Adams, David R.;
Chen, Dong;
Gahl, William A.;
Gochuico, Bernadette R.;
Malicdan, May Christine V.

Publication type:

Article

Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome--associated lung disease.

Published in:

Journal of Clinical Investigation, 2015, v. 125, n. 8, p. 3178, doi. 10.1172/JCI79792

By:

Yang Zhou;
Chuan Hua He;
Herzog, Erica L.;
Xueyan Peng;
Chang-Min Lee;
Nguyen, Tung H.;
Gulati, Mridu;
Gochuico, Bernadette R.;
Gahl, William A.;
Slade, Martin L.;
Chun Geun Lee;
Elias, Jack A.

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

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

Characterization of melanosomes and melanin in Japanese patients with Hermansky–Pudlak syndrome types 1, 4, 6, and 9.

Published in:

Pigment Cell & Melanoma Research, 2018, v. 31, n. 2, p. 267, doi. 10.1111/pcmr.12662

By:

Okamura, Ken;
Abe, Yuko;
Araki, Yuta;
Wakamatsu, Kazumasa;
Seishima, Mariko;
Umetsu, Takafumi;
Kato, Atsushi;
Kawaguchi, Masakazu;
Hayashi, Masahiro;
Hozumi, Yutaka;
Suzuki, Tamio

Publication type:

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

A new type of syndromic albinism associated with mutations in AP3D1.

Published in:

Pigment Cell & Melanoma Research, 2017, v. 30, n. 1, p. 5, doi. 10.1111/pcmr.12543

By:

Montoliu, Lluis;
Marks, Michael S.

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

Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population.

Published in:

Pigment Cell & Melanoma Research, 2016, v. 29, n. 2, p. 231, doi. 10.1111/pcmr.12438

By:

Yousaf, Sairah;
Shahzad, Mohsin;
Kausar, Tasleem;
Sheikh, Shakeel A.;
Tariq, Nabeela;
Shabbir, Asra S.;
Ali, Muhammad;
Waryah, Ali M.;
Shaikh, Rehan S.;
Riazuddin, Saima;
Ahmed, Zubair M.

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

A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.

Published in:

Pigment Cell & Melanoma Research, 2012, v. 25, n. 5, p. 584, doi. 10.1111/j.1755-148X.2012.01029.x

By:

Cullinane, Andrew R.;
Curry, James A.;
Golas, Gretchen;
Pan, James;
Carmona-Rivera, Carmelo;
Hess, Richard A.;
White, James G.;
Huizing, Marjan;
Gahl, William A.

Publication type:

Article

Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis.

Published in:

PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0159177

By:

Kirshenbaum, Arnold S.;
Cruse, Glenn;
Desai, Avanti;
Bandara, Geethani;
Leerkes, Maarten;
Lee, Chyi-Chia R.;
Fischer, Elizabeth R.;
O’Brien, Kevin J.;
Gochuico, Bernadette R.;
Stone, Kelly;
Gahl, William A.;
Metcalfe, Dean D.

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

Association of the Hermansky--Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects.

Published in:

BMC Psychiatry, 2013, v. 13, n. 1, p. 549, doi. 10.1186/1471-244X-13-276

By:

Go Kuratomi;
Atsushi Saito;
Yuji Ozeki;
Takashi Watanabe;
Kumiko Fujii;
Kazutaka Shimoda;
Toshihiko Inukai;
Harunobu Mori;
Kenichi Ohmori;
Kazufumi Akiyama

Publication type:

Article

A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome.

Published in:

Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 5, p. 1, doi. 10.1101/mcs.a006110

By:

Lansdon, Lisa A.;
Dong Chen;
Rush, Eric T.;
Engleman, Kendra;
Lei Zhang;
Saunders, Carol J.;
Oroszi, Gabor

Publication type:

Article

Issue Information.

Published in:: Pediatric Dermatology, 2017, v. 34, n. 6, p. 633, doi. 10.1111/pde.13001
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

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

Unexpected intra-operative bleeding due to Hermansky- Pudlak Syndrome.

Published in:

2015

By:

Ozgur, Mustafa;
Yilmaz, Bahar

Publication type:

Case Study

A deletion in the Hermansky-Pudlak syndrome 4 ( Hps4) gene appears to be responsible for albinism in channel catfish.

Published in:

Molecular Genetics & Genomics, 2017, v. 292, n. 3, p. 663, doi. 10.1007/s00438-017-1302-8

By:

Li, Yueru;
Geng, Xin;
Bao, Lisui;
Elaswad, Ahmed;
Dunham, Rex;
Liu, Zhanjiang;
Huggins, Kevin

Publication type:

Article

Hermansky-Pudlak Syndrome: A Case Report.

Published in:

2014

By:

Berber, Ilhami;
Erkurt, Mehmet Ali;
Kuku, Irfan;
Kaya, Emin;
Koroglu, Mustafa;
Nizam, Ilknur;
Gul, Mehmet;
Bentli, Recep

Publication type:

Case Study

Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype.

Published in:

G3: Genes | Genomes | Genetics, 2017, v. 7, n. 9, p. 3123, doi. 10.1534/g3.117.1125

By:

Hart, James C.;
Miller, Craig T.

Publication type:

Article

Poster 494 An Unusual Cause of Ischemic Stroke in a Patient With Hermansky‐Pudlak Syndrome: A Case Report.

Published in:

2011

By:

Desai, Anjuli;
Nissley, Frederick;
Peoples, James;
Siu, Gilbert

Publication type:

Abstract

Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2.

Published in:

BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-42

By:

Jones, Matthew L.;
Murden, Sherina L.;
Brooks, Claire;
Maloney, Viv;
Manning, Richard A.;
Gilmour, Kimberly C.;
Bharadwaj, Vandana;
de la Fuente, Josu;
Chakravorty, Subarna;
Mumford, Andrew D.

Publication type:

Article