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Renal manifestations of patients with MYH9-related disorders

  • Published:2011-01-06 Issue:4 Volume:26 Page:549-555
  • ISSN:0931-041X
  • Container-title:Pediatric Nephrology
  • language:en
  • Short-container-title:Pediatr Nephrol

Author:

Han Kyoung Hee,Lee HyunKyung,Kang Hee Gyung,Moon Kyung Chul,Lee Joo Hoon,Park Young Seo,Ha Il Soo,Ahn Hyo Seop,Choi Yong,Cheong Hae Il

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology, and Child Health

Reference32 articles.

1. Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA (2000) Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Hegglin/Fechtner syndrome consortium. Nature Genet 26:103–105

2. Kelley MJ, Jawien W, Ortel TL, Korczak JF (2000) Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet 26:106–108

3. Kunishima S, Matsushita T, Kojima T, Sako M, Kimura F, Jo EK, Inoue C, Kamiya T, Saito H (2003) Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest 83:115–122

4. Pecci A, Noris P, Invernizzi R, Savoia A, Seri M, Ghiggeri GM, Sartore S, Gangarossa S, Bizzaro N, Balduini CL (2002) Immunocytochemistry for the heavy chain of the nonmuscle myosin IIA as a diagnostic tool for MYH9-related disorders. Br J Haematol 117:164–167

5. 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 (2001) Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-Like syndromes. Am J Hum Genet 69:1033–1045

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