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Items: 1 to 20 of 153

1.

Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells.

Pecci A, Bozzi V, Panza E, Barozzi S, Gruppi C, Seri M, Balduini CL.

Thromb Haemost. 2011 Oct;106(4):693-704. doi: 10.1160/TH11-02-0126. Epub 2011 Aug 11.

PMID:
21833445
2.

Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation.

Pecci A, Malara A, Badalucco S, Bozzi V, Torti M, Balduini CL, Balduini A.

Thromb Haemost. 2009 Jul;102(1):90-6. doi: 10.1160/TH09-01-0068.

PMID:
19572073
3.

Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.

Pecci A, Canobbio I, Balduini A, Stefanini L, Cisterna B, Marseglia C, Noris P, Savoia A, Balduini CL, Torti M.

Hum Mol Genet. 2005 Nov 1;14(21):3169-78. Epub 2005 Sep 14.

4.

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.

Verver EJ, Topsakal V, Kunst HP, Huygen PL, Heller PG, Pujol-Moix N, Savoia A, Benazzo M, Fierro T, Grolman W, Gresele P, Pecci A.

Ear Hear. 2016 Jan-Feb;37(1):112-20. doi: 10.1097/AUD.0000000000000198.

PMID:
26226608
5.

Altered cytoskeleton organization in platelets from patients with MYH9-related disease.

Canobbio I, Noris P, Pecci A, Balduini A, Balduini CL, Torti M.

J Thromb Haemost. 2005 May;3(5):1026-35.

6.

Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.

Pecci A, Panza E, Pujol-Moix N, Klersy C, Di Bari F, Bozzi V, Gresele P, Lethagen S, Fabris F, Dufour C, Granata A, Doubek M, Pecoraro C, Koivisto PA, Heller PG, Iolascon A, Alvisi P, Schwabe D, De Candia E, Rocca B, Russo U, Ramenghi U, Noris P, Seri M, Balduini CL, Savoia A.

Hum Mutat. 2008 Mar;29(3):409-17.

PMID:
18059020
7.

Non-muscle myosin heavy chain IIA and IIB interact and co-localize in living cells: relevance for MYH9-related disease.

Marini M, Bruschi M, Pecci A, Romagnoli R, Musante L, Candiano G, Ghiggeri GM, Balduini C, Seri M, Ravazzolo R.

Int J Mol Med. 2006 May;17(5):729-36.

PMID:
16596254
8.

Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders.

Kunishima S, Hamaguchi M, Saito H.

Blood. 2008 Mar 15;111(6):3015-23. doi: 10.1182/blood-2007-10-116194. Epub 2008 Jan 11.

9.

Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations.

Kunishima S, Yoshinari M, Nishio H, Ida K, Miura T, Matsushita T, Hamaguchi M, Saito H.

Eur J Haematol. 2007 Mar;78(3):220-6. Epub 2007 Jan 16.

PMID:
17241369
10.
11.

Clinical, pathological, and genetic analysis of ten patients with MYH9-related disease.

Sun XH, Wang ZY, Yang HY, Cao LJ, Su J, Yu ZQ, Bai X, Ruan CG.

Acta Haematol. 2013;129(2):106-13. doi: 10.1159/000342123. Epub 2012 Nov 27.

PMID:
23207509
12.

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.

Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, Fabris F, Beggiato E, Kahr WH, Pujol-Moix N, Platokouki H, Van Geet C, Noris P, Yerram P, Hermans C, Gerber B, Economou M, De Groot M, Zieger B, De Candia E, Fraticelli V, Kersseboom R, Piccoli GB, Zimmermann S, Fierro T, Glembotsky AC, Vianello F, Zaninetti C, Nicchia E, Güthner C, Baronci C, Seri M, Knight PJ, Balduini CL, Savoia A.

Hum Mutat. 2014 Feb;35(2):236-47. doi: 10.1002/humu.22476. Epub 2013 Dec 12.

PMID:
24186861
13.

MYH9-siRNA and MYH9 mutant alleles: expression in cultured cell lines and their effects upon cell structure and function.

Li Y, Friedmann DR, Mhatre AN, Lalwani AK.

Cell Motil Cytoskeleton. 2008 May;65(5):393-405. doi: 10.1002/cm.20268.

PMID:
18330899
14.

Advances in the understanding of MYH9 disorders.

Kunishima S, Saito H.

Curr Opin Hematol. 2010 Sep;17(5):405-10. doi: 10.1097/MOH.0b013e32833c069c. Review.

PMID:
20601875
15.

Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

Heath KE, Campos-Barros A, Toren A, Rozenfeld-Granot G, Carlsson LE, Savige J, Denison JC, Gregory MC, White JG, Barker DF, Greinacher A, Epstein CJ, Glucksman MJ, Martignetti JA.

Am J Hum Genet. 2001 Nov;69(5):1033-45. Epub 2001 Oct 4.

16.

The abnormal proplatelet formation in MYH9-related macrothrombocytopenia results from an increased actomyosin contractility and is rescued by myosin IIA inhibition.

Chen Y, Boukour S, Milloud R, Favier R, Saposnik B, Schlegel N, Nurden A, Raslova H, Vainchenker W, Balland M, Nurden P, Debili N.

J Thromb Haemost. 2013 Dec;11(12):2163-75. doi: 10.1111/jth.12436.

17.

Myosin IIA is critical for organelle distribution and F-actin organization in megakaryocytes and platelets.

Pertuy F, Eckly A, Weber J, Proamer F, Rinckel JY, Lanza F, Gachet C, Léon C.

Blood. 2014 Feb 20;123(8):1261-9. doi: 10.1182/blood-2013-06-508168. Epub 2013 Nov 15.

18.

Renal manifestations of patients with MYH9-related disorders.

Han KH, Lee H, Kang HG, Moon KC, Lee JH, Park YS, Ha IS, Ahn HS, Choi Y, Cheong HI.

Pediatr Nephrol. 2011 Apr;26(4):549-55. doi: 10.1007/s00467-010-1735-3. Epub 2011 Jan 6.

PMID:
21210153
19.

Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.

Balduini CL, Pecci A, Savoia A.

Br J Haematol. 2011 Jul;154(2):161-74. doi: 10.1111/j.1365-2141.2011.08716.x. Epub 2011 May 4. Review.

PMID:
21542825
20.

Myosin-II repression favors pre/proplatelets but shear activation generates platelets and fails in macrothrombocytopenia.

Spinler KR, Shin JW, Lambert MP, Discher DE.

Blood. 2015 Jan 15;125(3):525-33. doi: 10.1182/blood-2014-05-576462. Epub 2014 Nov 13.

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