Literature DB >> 22740159

Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome.

Samaneh Zhian1, John Belmont, Cheryl L Maslen.   

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Year:  2012        PMID： 22740159      PMCID： PMC3402694          DOI： 10.1002/ajmg.a.35457

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  12 in total

1.  Heart development and the genetic aspects of cardiovascular malformations.

Authors:  A E Lin; M E Pierpont
Journal:  Am J Med Genet       Date:  2000

2.  Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.

Authors:  Susan W Robinson; Cynthia D Morris; Elizabeth Goldmuntz; Mark D Reller; Melanie A Jones; Robert D Steiner; Cheryl L Maslen
Journal:  Am J Hum Genet       Date:  2003-03-11       Impact factor: 11.025

3.  CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome.

Authors:  Cheryl L Maslen; Darcie Babcock; Susan W Robinson; Lora J H Bean; Kenneth J Dooley; Virginia L Willour; Stephanie L Sherman
Journal:  Am J Med Genet A       Date:  2006-11-15       Impact factor: 2.802

4.  Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects.

Authors:  Maximilian G Posch; Andreas Perrot; Katharina Schmitt; Sebastian Mittelhaus; Eva-Maria Esenwein; Brigitte Stiller; Christian Geier; Rainer Dietz; Reinhard Gessner; Cemil Ozcelik; Felix Berger
Journal:  Am J Med Genet A       Date:  2008-01-15       Impact factor: 2.802

Review 5.  Disorders of left-right asymmetry: heterotaxy and situs inversus.

Authors:  Mardi J Sutherland; Stephanie M Ware
Journal:  Am J Med Genet C Semin Med Genet       Date:  2009-11-15       Impact factor: 3.908

6.  A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India.

Authors:  Lingaiah Kusuma; Sosalagere M Dinesh; Mysore R Savitha; Balasundaram Krishnamurthy; Doddaiah Narayanappa; Nallur B Ramachandra
Journal:  Genet Test Mol Biomarkers       Date:  2011-03-17

7.  Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2).

Authors:  M Zatyka; M Priestley; E J Ladusans; A E Fryer; J Mason; F Latif; E R Maher
Journal:  Clin Genet       Date:  2005-06       Impact factor: 4.438

8.  Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins.

Authors:  Paul A Rupp; Gameil T Fouad; Carley A Egelston; Carol A Reifsteck; Susan B Olson; Wendy M Knosp; Robert W Glanville; Kent L Thornburg; Susan W Robinson; Cheryl L Maslen
Journal:  Gene       Date:  2002-06-26       Impact factor: 3.688

Review 9.  Molecular genetics of heterotaxy syndromes.

Authors:  John W Belmont; Bhagyalaxmi Mohapatra; Jeffrey A Towbin; Stephanie M Ware
Journal:  Curr Opin Cardiol       Date:  2004-05       Impact factor: 2.161

10.  Heterotaxy: associated conditions and hospital-based prevalence in newborns.

Authors:  A E Lin; B S Ticho; K Houde; M N Westgate; L B Holmes
Journal:  Genet Med       Date:  2000 May-Jun       Impact factor: 8.822
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  7 in total

1.  Duplication and deletion of CFC1 associated with heterotaxy syndrome.

Authors:  Ruixue Cao; Fei Long; Liping Wang; Yuejuan Xu; Ying Guo; Fen Li; Sun Chen; Kun Sun; Rang Xu
Journal:  DNA Cell Biol       Date:  2014-11-25       Impact factor: 3.311

Review 2.  Calcineurin in the heart: New horizons for an old friend.

Authors:  Malay Chaklader; Beverly A Rothermel
Journal:  Cell Signal       Date:  2021-08-25       Impact factor: 4.315

3.  Novel copy-number variants in a population-based investigation of classic heterotaxy.

Authors:  Shannon L Rigler; Denise M Kay; Robert J Sicko; Ruzong Fan; Aiyi Liu; Michele Caggana; Marilyn L Browne; Charlotte M Druschel; Paul A Romitti; Lawrence C Brody; James L Mills
Journal:  Genet Med       Date:  2014-09-18       Impact factor: 8.822

4.  Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects.

Authors:  Dhanya Ramachandran; Jennifer G Mulle; Adam E Locke; Lora J H Bean; Tracie C Rosser; Promita Bose; Kenneth J Dooley; Clifford L Cua; George T Capone; Roger H Reeves; Cheryl L Maslen; David J Cutler; Stephanie L Sherman; Michael E Zwick
Journal:  Genet Med       Date:  2014-10-23       Impact factor: 8.822

Review 5.  Transposition of great arteries: new insights into the pathogenesis.

Authors:  Marta Unolt; Carolina Putotto; Lucia M Silvestri; Dario Marino; Alessia Scarabotti; Angela Caiaro; Paolo Versacci; Bruno Marino
Journal:  Front Pediatr       Date:  2013-06-06       Impact factor: 3.418

6.  Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects.

Authors:  Jennifer K Redig; Gameil T Fouad; Darcie Babcock; Benjamin Reshey; Eleanor Feingold; Roger H Reeves; Cheryl L Maslen
Journal:  AIMS Genet       Date:  2014

7.  Rare copy number variants analysis identifies novel candidate genes in heterotaxy syndrome patients with congenital heart defects.

Authors:  Chunjie Liu; Ruixue Cao; Yuejuan Xu; Tingting Li; Fen Li; Sun Chen; Rang Xu; Kun Sun
Journal:  Genome Med       Date:  2018-05-30       Impact factor: 11.117
  7 in total

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