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Select item 42619591.

c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family

Vitor G.L. Dantas, Karina Lezirovitz, Guilherme L. Yamamoto, Carolina Fischinger Moura de Souza, Simone Gomes Ferreira, Regina C. Mingroni-Netto

Genet Mol Biol. 2014 Oct; 37(4): 616–621. Published online 2014 Nov 14. doi: 10.1590/S1415-47572014005000025

PMCID:: PMC4261959

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Select item 12885542.

Human Nonsyndromic Hereditary Deafness DFNA17 Is Due to a Mutation in Nonmuscle Myosin MYH9

Anil K. Lalwani, Jayne A. Goldstein, Michael J. Kelley, William Luxford, Caley M. Castelein, Anand N. Mhatre

Am J Hum Genet. 2000 Nov; 67(5): 1121–1128. Published online 2000 Oct 9. doi: 10.1016/s0002-9297(07)62942-5

PMCID:: PMC1288554

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Select item 12743503.

Nonmuscle Myosin Heavy Chain IIA Mutations Define a Spectrum of Autosomal Dominant Macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein, and Alport-Like Syndromes

Karen E. Heath, Angel Campos-Barros, Amos Toren, Galit Rozenfeld-Granot, Lena E. Carlsson, Judy Savige, Joyce C. Denison, Martin C. Gregory, James G. White, David F Barker, Andreas Greinacher, Charles J. Epstein, Marc J. Glucksman, John A. Martignetti

Am J Hum Genet. 2001 Nov; 69(5): 1033–1045. Published online 2001 Oct 4. doi: 10.1086/324267

PMCID:: PMC1274350

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Select item 63304394.

Degeneration of saccular hair cells caused by MITF gene mutation

Yi Du, Li-li Ren, Qing-qing Jiang, Xing-jian Liu, Fei Ji, Yue Zhang, Shuo-long Yuan, Zi-Ming Wu, Wei-Wei Guo, Shi-Ming Yang

Neural Dev. 2019; 14: 1. Published online 2019 Jan 11. doi: 10.1186/s13064-019-0126-0

PMCID:: PMC6330439

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Select item 29046545.

Postnatal Development of the Endbulb of Held in Congenitally Deaf Cats

Christa A. Baker, Karen L. Montey, Tan Pongstaporn, David K. Ryugo

Front Neuroanat. 2010; 4: 19. Prepublished online 2010 Feb 15. Published online 2010 May 21. doi: 10.3389/fnana.2010.00019

PMCID:: PMC2904654

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Select item 96761916.

A familial case of MYH9 gene mutation associated with multiple functional and structural platelet abnormalities

Svetlana I. Safiullina, Natalia G. Evtugina, Izabella A. Andrianova, Rafael R. Khismatullin, Olga A. Kravtsova, Alina I. Khabirova, Chandrasekaran Nagaswami, Amina G. Daminova, Alina D. Peshkova, Rustem I. Litvinov, John W. Weisel

Sci Rep. 2022; 12: 19975. Published online 2022 Nov 20. doi: 10.1038/s41598-022-24098-5

PMCID:: PMC9676191

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Select item 96364287.

Defective VWF secretion due to expression of MYH9-RD E1841K mutant in endothelial cells disrupts hemostasis

Yang Cao, Yanjie Sun, Yanan Deng, Guoqin Wei, Junling Liu, Shengyu Jin, Chao Dong, Xuya Kang, Yingqing Huo, Jingjing Zhang, Jincai Luo

Blood Adv. 2022 Aug 9; 6(15): 4537–4552. Published online 2022 Jun 30. doi: 10.1182/bloodadvances.2022008011

PMCID:: PMC9636428

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Select item 96316948.

A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome

David Marx, Arnaud Dupuis, Anita Eckly, Anne Molitor, Jérôme Olagne, Guy Touchard, Sihem Kaaki, Cécile Ory, Anne-Laure Faller, Bénédicte Gérard, Melanie Cotter, Lisa Westerberg, Marton Keszei, Bruno Moulin, Christian Gachet, Sophie Caillard, Seiamak Bahram, Raphaël Carapito

Blood Adv. 2022 Sep 27; 6(18): 5279–5284. Published online 2022 Sep 19. doi: 10.1182/bloodadvances.2021006789

PMCID:: PMC9631694

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Select item 81222569.

Role of Thrombopoietin Receptor Agonists in Inherited Thrombocytopenia

José María Bastida, José Ramón Gonzalez-Porras, José Rivera, María Luisa Lozano

Int J Mol Sci. 2021 May; 22(9): 4330. Published online 2021 Apr 21. doi: 10.3390/ijms22094330

PMCID:: PMC8122256

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Select item 773150810.

The curious incident of a cavum velum interpositum cyst in twins of a mother carrying May-Hegglin anomaly: a case report and short literature review

Giulio Giordano, Giovanni L. Tiscia, Giovanni Favuzzi, Elena Chinni, Mariano Intrieri, Mario Mastroianno, Letizia Di Meglio, Maurizio Margaglione, Elvira Grandone

BMC Pregnancy Childbirth. 2020; 20: 772. Published online 2020 Dec 11. doi: 10.1186/s12884-020-03437-2

PMCID:: PMC7731508

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Select item 742765411.

Rare inherited kidney diseases: an evolving field in Nephrology

Mariana Faucz Munhoz da Cunha, Gabriela Sevignani, Giovana Memari Pavanelli, Mauricio de Carvalho, Fellype Carvalho Barreto

J Bras Nefrol. 2020 Apr-Jun; 42(2): 219–230. Published online 2020 Mar 20. doi: 10.1590/2175-8239-JBN-2018-0217

PMCID:: PMC7427654

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Select item 734889412.

Linking the Landscape of MYH9-Related Diseases to the Molecular Mechanisms that Control Non-Muscle Myosin II-A Function in Cells

Gloria Asensio-Juárez, Clara Llorente-González, Miguel Vicente-Manzanares

Cells. 2020 Jun; 9(6): 1458. Published online 2020 Jun 12. doi: 10.3390/cells9061458

PMCID:: PMC7348894

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Select item 724314313.

Megakaryocyte migration defects due to nonmuscle myosin IIA mutations underlie thrombocytopenia in MYH9-related disease

Kasturi Pal, Roberta Nowak, Neil Billington, Rong Liu, Arit Ghosh, James R. Sellers, Velia M. Fowler

Blood. 2020 May 21; 135(21): 1887–1898. Prepublished online 2020 Feb 13. doi: 10.1182/blood.2019003064

Correction in:: Blood. 2020 Aug 6; 136(6): 771.

PMCID:: PMC7243143

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Select item 700475214.

A novel de novo MYH9 mutation in MYH9-related disease: A case report and review of literature

Qi Ai, Linsheng Zhao, Jing Yin, Lihua Jiang, Qiuying Jin, Xiaoli Hu, Sen Chen

Medicine (Baltimore) 2020 Jan; 99(4): e18887. Published online 2020 Jan 24. doi: 10.1097/MD.0000000000018887

PMCID:: PMC7004752

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Select item 697297715.

Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants

Loredana Bury, Karyn Megy, Jonathan C. Stephens, Luigi Grassi, Daniel Greene, Nick Gleadall, Karina Althaus, David Allsup, Tadbir K. Bariana, Mariana Bonduel, Nora V. Butta, Peter Collins, Nicola Curry, Sri V. V. Deevi, Kate Downes, Daniel Duarte, Kim Elliott, Emanuela Falcinelli, Bruce Furie, David Keeling, Michele P. Lambert, Rachel Linger, Sarah Mangles, Rutendo Mapeta, Carolyn M. Millar, Christopher Penkett, David J. Perry, Kathleen E. Stirrups, Ernest Turro, Sarah K. Westbury, John Wu, NIHR BioResource, Keith Gomez, Kathleen Freson, Willem H. Ouwehand, Paolo Gresele, Ilenia Simeoni

Hum Mutat. 2020 Jan; 41(1): 277–290. Published online 2019 Oct 15. doi: 10.1002/humu.23927

PMCID:: PMC6972977

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Select item 693655216.

The use of pan-retinal photocoagulation to treat recurrent vitreous haemorrhage with neovascularisation in the context of Epstein syndrome: an MYH9-related disorder

Francis William Barwise Sanders, Emma Thompson, Harry Roberts, Nitin Gupta

BMJ Case Rep. 2019; 12(12): e231710. Published online 2019 Dec 29. doi: 10.1136/bcr-2019-231710

PMCID:: PMC6936552

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Select item 685937917.

Renin-angiotensin System Blockade Therapy for Early Renal Involvement in MYH9-related Disease with an E1841K Mutation

Mari Tanaka, Sho Miki, Hirona Saita, Hiroki Shimada, Seira Nishikawa, Keisuke Taniguchi, Koichiro Hagihara, Sachio Iwanari, Masaki Ikeda, Shinji Kunishima, Hiroya Takeoka

Intern Med. 2019 Oct 15; 58(20): 2983–2988. Published online 2019 Jun 27. doi: 10.2169/internalmedicine.2997-19

PMCID:: PMC6859379

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Select item 682528218.

Cellular defects resulting from disease-related myosin II mutations in Drosophila

Karen E. Kasza, Sara Supriyatno, Jennifer A. Zallen

Proc Natl Acad Sci U S A. 2019 Oct 29; 116(44): 22205–22211. Published online 2019 Oct 15. doi: 10.1073/pnas.1909227116

PMCID:: PMC6825282

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Select item 651059619.

Alyson S. Smith, Kasturi Pal, Roberta B. Nowak, Anastasiya Demenko, Carlo Zaninetti, Lydie Da Costa, Remi Favier, Alessandro Pecci, Velia M. Fowler

Am J Hematol. Author manuscript; available in PMC 2020 Jun 1.

Published in final edited form as: Am J Hematol. 2019 Jun; 94(6): 667–677. Published online 2019 Apr 17. doi: 10.1002/ajh.25472

PMCID:: PMC6510596

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Select item 623387020.

Alessandro Pecci, Catherine Klersy, Paolo Gresele, Kieran J.D. Lee, Daniela De Rocco, Valeria Bozzi, Giovanna Russo, Paula G. Heller, Giuseppe Loffredo, Matthias Ballmaier, Fabrizio Fabris, Eloise Beggiato, Walter HA Kahr, Nuria Pujol-Moix, Helen Platokouki, Christel Van Geet, Patrizia Noris, Preethi Yerram, Cedric Hermans, Bernhard Gerber, Marina Economou, Marco De Groot, Barbara Zieger, Erica De Candia, Vincenzo Fraticelli, Rogier Kersseboom, Giorgina B. Piccoli, Stefanie Zimmermann, Tiziana Fierro, Ana C. Glembotsky, Fabrizio Vianello, Carlo Zaninetti, Elena Nicchia, Christiane Güthner, Carlo Baronci, Marco Seri, Peter J. Knight, Carlo L. Balduini, Anna Savoia

Hum Mutat. Author manuscript; available in PMC 2018 Nov 13.

Published in final edited form as: Hum Mutat. 2014 Feb; 35(2): 236–247. Published online 2013 Dec 12. doi: 10.1002/humu.22476

PMCID:: PMC6233870

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