Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Somatic mutations in cardiac malformations.

Literature DB >> 16882739

Somatic mutations in cardiac malformations.

S M Reamon-Buettner, J Borlak.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 2006 PMID： 16882739 PMCID： PMC2564600 DOI： 10.1136/jmg.2006.040907

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

× No keyword cloud information.

21 in total

1. A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family.

Authors: A Okubo; O Miyoshi; K Baba; M Takagi; K Tsukamoto; A Kinoshita; K Yoshiura; T Kishino; T Ohta; N Niikawa; N Matsumoto
Journal: J Med Genet Date: 2004-07 Impact factor: 6.318

2. HEY2 mutations in malformed hearts.

Authors: Stella Marie Reamon-Buettner; Juergen Borlak
Journal: Hum Mutat Date: 2006-01 Impact factor: 4.878

Review 3. Somatic gene mutation and human disease other than cancer.

Authors: Robert P Erickson
Journal: Mutat Res Date: 2003-03 Impact factor: 2.433

4. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.

Authors: Vidu Garg; Irfan S Kathiriya; Robert Barnes; Marie K Schluterman; Isabelle N King; Cheryl A Butler; Caryn R Rothrock; Reenu S Eapen; Kayoko Hirayama-Yamada; Kunitaka Joo; Rumiko Matsuoka; Jonathan C Cohen; Deepak Srivastava
Journal: Nature Date: 2003-07-06 Impact factor: 49.962

5. Autoimmune lymphoproliferative syndrome with somatic Fas mutations.

Authors: Eliska Holzelova; Cédric Vonarbourg; Marie-Claude Stolzenberg; Peter D Arkwright; Françoise Selz; Anne-Marie Prieur; Stéphane Blanche; Jirina Bartunkova; Etienne Vilmer; Alain Fischer; Françoise Le Deist; Frédéric Rieux-Laucat
Journal: N Engl J Med Date: 2004-09-30 Impact factor: 91.245

6. Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.

Authors: S M Reamon-Buettner; J Borlak
Journal: J Med Genet Date: 2004-09 Impact factor: 6.318

Review 7. TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.

Authors: Alessandro D Mori; Benoit G Bruneau
Journal: Curr Opin Cardiol Date: 2004-05 Impact factor: 2.161

8. TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts.

Authors: Stella Marie Reamon-Buettner; Juergen Borlak
Journal: Hum Mutat Date: 2004-07 Impact factor: 4.878

9. Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies.

Authors: Hideko Kasahara; D Woodrow Benson
Journal: Cardiovasc Res Date: 2004-10-01 Impact factor: 10.787

3. Analysis of the microRNA signature in left atrium from patients with valvular heart disease reveals their implications in atrial fibrillation.

Authors: Rosa Doñate Puertas; Audrey Jalabert; Emmanuelle Meugnier; Vanessa Euthine; Philippe Chevalier; Sophie Rome
Journal: PLoS One Date: 2018-05-03 Impact factor: 3.240

3 in total