Literature DB >> 10587507

Single allele mutations at the heart of congenital disease.

N Rosenthal, R P Harvey.   

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Year:  1999        PMID： 10587507      PMCID： PMC409868          DOI： 10.1172/JCI8825

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


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  9 in total

Review 1.  To be or not to be active: the stochastic nature of enhancer action.

Authors:  S Fiering; E Whitelaw; D I Martin
Journal:  Bioessays       Date:  2000-04       Impact factor: 4.345

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

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

3.  Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways.

Authors:  D W Benson; G M Silberbach; A Kavanaugh-McHugh; C Cottrill; Y Zhang; S Riggs; O Smalls; M C Johnson; M S Watson; J G Seidman; C E Seidman; J Plowden; J D Kugler
Journal:  J Clin Invest       Date:  1999-12       Impact factor: 14.808

4.  Independent regulation of the two Pax5 alleles during B-cell development.

Authors:  S L Nutt; S Vambrie; P Steinlein; Z Kozmik; A Rolink; A Weith; M Busslinger
Journal:  Nat Genet       Date:  1999-04       Impact factor: 38.330

5.  Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.

Authors:  C T Basson; T Huang; R C Lin; D R Bachinsky; S Weremowicz; A Vaglio; R Bruzzone; R Quadrelli; M Lerone; G Romeo; M Silengo; A Pereira; J Krieger; S F Mesquita; M Kamisago; C C Morton; M E Pierpont; C W Müller; J G Seidman; C E Seidman
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-16       Impact factor: 11.205

6.  Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects.

Authors:  D W Benson; A Sharkey; D Fatkin; P Lang; C T Basson; B McDonough; A W Strauss; J G Seidman; C E Seidman
Journal:  Circulation       Date:  1998-05-26       Impact factor: 29.690

7.  Tinman function is essential for vertebrate heart development: elimination of cardiac differentiation by dominant inhibitory mutants of the tinman-related genes, XNkx2-3 and XNkx2-5.

Authors:  M W Grow; P A Krieg
Journal:  Dev Biol       Date:  1998-12-01       Impact factor: 3.582

8.  Congenital heart disease caused by mutations in the transcription factor NKX2-5.

Authors:  J J Schott; D W Benson; C T Basson; W Pease; G M Silberbach; J P Moak; B J Maron; C E Seidman; J G Seidman
Journal:  Science       Date:  1998-07-03       Impact factor: 47.728

9.  Vertebrate tinman homologues XNkx2-3 and XNkx2-5 are required for heart formation in a functionally redundant manner.

Authors:  Y Fu; W Yan; T J Mohun; S M Evans
Journal:  Development       Date:  1998-11       Impact factor: 6.868
  9 in total
  1 in total

1.  ALDH1A2 (RALDH2) genetic variation in human congenital heart disease.

Authors:  Marilene Pavan; Viviane F Ruiz; Fábio A Silva; Tiago J Sobreira; Roberta M Cravo; Michelle Vasconcelos; Lívia P Marques; Sonia M F Mesquita; José E Krieger; Antônio A B Lopes; Paulo S Oliveira; Alexandre C Pereira; José Xavier-Neto
Journal:  BMC Med Genet       Date:  2009-11-03       Impact factor: 2.103
  1 in total

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