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Items: 1 to 20 of 44

1.
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
ArticlePDF–974K
2.
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
ArticlePDF–589K
3.
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
ArticlePDF–4.1M
4.
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
ArticlePDF–2.0M
5.
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
ArticlePDF–2.5M
6.
Unveiling the hidden clues: Döhle body-like inclusions as morphological markers for MYH9-related disorders: A case report
Yan Zhang, Zhongbao Zuo, Wenyan Yu, Aifang Xu
Medicine (Baltimore) 2023 Dec 22; 102(51): e36735. Published online 2023 Dec 22. doi: 10.1097/MD.0000000000036735
PMCID:
PMC10735054
ArticlePDF–473K
7.
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
ArticlePDF–3.4M
8.
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
ArticlePDF–3.8M
9.
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
ArticlePDF–1.3M
10.
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
ArticlePDF–846K
11.
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
ArticlePDF–2.1M
12.
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
ArticlePDF–1.2M
13.
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
ArticlePDF–2.5M
14.
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
Article
15.
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
ArticlePDF–279K
16.
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
ArticlePDF–5.2M
17.
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
ArticlePDF–275K
18.
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
ArticlePDF–1.0M
19.
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
ArticlePDF–1.1M
20.
MYH9-related disease mutations cause abnormal red blood cell morphology through increased myosin-actin binding at the membrane
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
ArticlePDF–939K

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