2010 Fiscal Year Final Research Report
Molecular pathogenesis of MYH9 disorders
| Project/Area Number |
20591161
|
|---|
| Research Category |
Grant-in-Aid for Scientific Research (C)
|
| Allocation Type | Single-year Grants |
|---|
| Section | 一般 |
|---|
| Research Field |
Hematology
|
|---|
| Research Institution | Clinical research Center, Nagoya National Hospital. |
|---|
Principal Investigator |
KUNISHIMA Shinji Clinical research Center, Nagoya National Hospital., 高度診断研究部, 室長 (60373495)
|
|---|
| Project Period (FY) |
2008 – 2010
|
| Keywords | May-Hegglin anomaly / 先天性血小板減少症 / 先天性巨大血小板症 |
|---|
| Research Abstract |
The MYH9 disorders are autosomal dominant congenital platelet disorders, characterized by giant platelets, thrombocytopenia, and granulocyte inclusion bodies. COS7 cells transfected with wild-type full length MYH9 cDNA and that with the single base deletion mutation of Exon 40 identified in patients showed the normal fiber localization of NMMHC-IIA protein without forming inclusion bodies. Inhibition of lamellipodial extension and increase in the number of focal adhesion complex in transfected COS7 cells, with or without MYH9 mutation, suggested functional expression of mutant NMMHC-IIA.
|
-
-
[Journal Article] Patients with Epstein?Fechtner syndromes owing to MYH9R702 mutations develop progressive proteinuric renal disease.2010
Author(s)
Sekine T, Konno M, Sasaki S, Moritani S, Miura T, Wong WS, Nishio H, Nishiguchi T, Yoshinari-Ohuchi M, Tsuchiya S, Matsuyama T, Kanegane H, Ida K, Miura K, Harita Y, Igarashi T, Hattori M, Horita S, Saito H, Kunishima S.
-
Journal Title
Kidney Int 78
Pages: 207-14
Peer Reviewed
-
[Journal Article] A novel splice site mutation in intron C of PROS1 leads to markedly reduced mutant mRNA level, absence of thrombin-sensitive region, and impaired secretion and cofactor activity of mutant protein2010
Author(s)
Okada H, Kunishima S, Hamaguchi M, Takagi A, Yamamoto K, Takamatsu J, Matsushita T, Saito H, Kojima T, Yamazaki T.
-
Journal Title
S.Thromb Res 125
Pages: e246-50
Peer Reviewed
-
-
-
-
[Journal Article] A rare case of MYH9 disorders presenting with macrothrombocytopenia and deafness caused by MYH9-R702C mutation.2009
Author(s)
Kodama R, Taketani T, Kunishima S, Mishima S, Yoshikawa Y, Kanai R, Suyama T, Yoshino I, Kunishi H, Shibata H, Nagai A, Yamaguchi S, MasudaJ.
-
Journal Title
Thromb Res 124
Pages: 508-11
Peer Reviewed
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
