Literature DB >> 16845574

Familial congenital heart disease, progressive atrioventricular block and the cardiac homeobox transcription factor gene NKX2.5: identification of a novel mutation.

K König, J C Will, F Berger, D Müller, D W Benson.   

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Year:  2006        PMID： 16845574     DOI： 10.1007/s00392-006-0412-9

Source DB:  PubMed          Journal:  Clin Res Cardiol        ISSN： 1861-0684            Impact factor:   5.460


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  23 in total

1.  Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors.

Authors:  A Sarkozy; E Conti; C Neri; R D'Agostino; M C Digilio; G Esposito; A Toscano; B Marino; A Pizzuti; B Dallapiccola
Journal:  J Med Genet       Date:  2005-02       Impact factor: 6.318

2.  Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

Authors:  Kayoko Hirayama-Yamada; Mitsuhiro Kamisago; Kaoru Akimoto; Hiroyuki Aotsuka; Yoshihide Nakamura; Hideshi Tomita; Michiko Furutani; Shin-ichiro Imamura; Atsuyoshi Takao; Makoto Nakazawa; Rumiko Matsuoka
Journal:  Am J Med Genet A       Date:  2005-05-15       Impact factor: 2.802

Review 3.  NK-2 homeobox genes and heart development.

Authors:  R P Harvey
Journal:  Dev Biol       Date:  1996-09-15       Impact factor: 3.582

Review 4.  Parsing the heart: genetic modules for organ assembly.

Authors:  M C Fishman; E N Olson
Journal:  Cell       Date:  1997-10-17       Impact factor: 41.582

5.  Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5.

Authors:  C Biben; R Weber; S Kesteven; E Stanley; L McDonald; D A Elliott; L Barnett; F Köentgen; L Robb; M Feneley; R P Harvey
Journal:  Circ Res       Date:  2000-11-10       Impact factor: 17.367

6.  Nkx2-5 mutation causes anatomic hypoplasia of the cardiac conduction system.

Authors:  Patrick Y Jay; Brett S Harris; Colin T Maguire; Antje Buerger; Hiroko Wakimoto; Makoto Tanaka; Sabina Kupershmidt; Dan M Roden; Thomas M Schultheiss; Terrence X O'Brien; Robert G Gourdie; Charles I Berul; Seigo Izumo
Journal:  J Clin Invest       Date:  2004-04       Impact factor: 14.808

7.  Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block.

Authors:  Mohammad Pashmforoush; Jonathan T Lu; Hanying Chen; Tara St Amand; Richard Kondo; Sylvain Pradervand; Sylvia M Evans; Bob Clark; James R Feramisco; Wayne Giles; Siew Yen Ho; D Woodrow Benson; Michael Silberbach; Weinian Shou; Kenneth R Chien
Journal:  Cell       Date:  2004-04-30       Impact factor: 41.582

8.  Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease.

Authors:  Yuichi Ikeda; Yukio Hiroi; Toru Hosoda; Toshinori Utsunomiya; Shuzo Matsuo; Tsuyoshi Ito; Jun-ichi Inoue; Tetsuya Sumiyoshi; Hiroyuki Takano; Ryozo Nagai; Issei Komuro
Journal:  Circ J       Date:  2002-06       Impact factor: 2.993

Review 9.  Transcription factors and congenital heart defects.

Authors:  Krista L Clark; Katherine E Yutzey; D Woodrow Benson
Journal:  Annu Rev Physiol       Date:  2006       Impact factor: 19.318

10.  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
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  12 in total

1.  Ablation of Nkx2-5 at mid-embryonic stage results in premature lethality and cardiac malformation.

Authors:  Ryota Terada; Sonisha Warren; Jonathan T Lu; Kenneth R Chien; Andy Wessels; Hideko Kasahara
Journal:  Cardiovasc Res       Date:  2011-02-01       Impact factor: 10.787

Review 2.  Transcription factor pathways and congenital heart disease.

Authors:  David J McCulley; Brian L Black
Journal:  Curr Top Dev Biol       Date:  2012       Impact factor: 4.897

3.  Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling.

Authors:  Milena B Furtado; Julia C Wilmanns; Anjana Chandran; Joelle Perera; Olivia Hon; Christine Biben; Taylor J Willow; Hieu T Nim; Gurpreet Kaur; Stephanie Simonds; Qizhu Wu; David Willians; Ekaterina Salimova; Nicolas Plachta; James M Denegre; Stephen A Murray; Diane Fatkin; Michael Cowley; James T Pearson; David Kaye; Mirana Ramialison; Richard P Harvey; Nadia A Rosenthal; Mauro W Costa
Journal:  JCI Insight       Date:  2017-03-23

4.  Anomalous origin of the left coronary artery from the pulmonary artery: mid-term results after surgical correction.

Authors:  Wlodzimierz Kuroczynski; Christoph Kampmann; Nalan Kayhan; Markus Heinemann; Diethard Pruefer; Christian-Friedrich Vahl
Journal:  Clin Res Cardiol       Date:  2008-02-22       Impact factor: 5.460

5.  A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomal-dominant inherited congenital heart disease.

Authors:  S Pabst; B Wollnik; E Rohmann; Y Hintz; K Glänzer; H Vetter; G Nickenig; C Grohé
Journal:  Clin Res Cardiol       Date:  2007-09-25       Impact factor: 5.460

6.  Perinatal loss of Nkx2-5 results in rapid conduction and contraction defects.

Authors:  Laura E Briggs; Morihiko Takeda; Adolfo E Cuadra; Hiroko Wakimoto; Melissa H Marks; Alexandra J Walker; Tsugio Seki; Suk P Oh; Jonathan T Lu; Colin Sumners; Mohan K Raizada; Nobuo Horikoshi; Ellen O Weinberg; Kenji Yasui; Yasuhiro Ikeda; Kenneth R Chien; Hideko Kasahara
Journal:  Circ Res       Date:  2008-08-08       Impact factor: 17.367

Review 7.  Genetic origins of pediatric heart disease.

Authors:  D Woodrow Benson
Journal:  Pediatr Cardiol       Date:  2009-12-23       Impact factor: 1.655

8.  Combined cardiological and neurological abnormalities due to filamin A gene mutation.

Authors:  Marie Claire Y de Wit; Irenaeus F M de Coo; Maarten H Lequin; Dicky J J Halley; Jolien W Roos-Hesselink; Grazia M S Mancini
Journal:  Clin Res Cardiol       Date:  2010-08-22       Impact factor: 5.460

9.  Slow progressive conduction and contraction defects in loss of Nkx2-5 mice after cardiomyocyte terminal differentiation.

Authors:  Morihiko Takeda; Laura E Briggs; Hiroko Wakimoto; Melissa H Marks; Sonisha A Warren; Jonathan T Lu; Ellen O Weinberg; Keith D Robertson; Kenneth R Chien; Hideko Kasahara
Journal:  Lab Invest       Date:  2009-06-22       Impact factor: 5.662

Review 10.  Molecular genetics of congenital atrial septal defects.

Authors:  Maximilian G Posch; Andreas Perrot; Felix Berger; Cemil Ozcelik
Journal:  Clin Res Cardiol       Date:  2009-12-11       Impact factor: 5.460
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