Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.

[1]  J. Belmont,et al.  Characterization of the interactions of human ZIC3 mutants with GLI3 , 2008, Human mutation.

[2]  Y. Saijoh,et al.  Long-range action of Nodal requires interaction with GDF1. , 2007, Genes & development.

[3]  C. Ibáñez,et al.  Distinct and cooperative roles of mammalian Vg1 homologs GDF1 and GDF3 during early embryonic development. , 2007, Developmental biology.

[4]  S. Mcconnell,et al.  Mutations in the BMP pathway in mice support the existence of two molecular classes of holoprosencephaly , 2007, Development.

[5]  A. Schier,et al.  Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. , 2007, American journal of human genetics.

[6]  H. Noushmehr,et al.  An early requirement for maternal FoxH1 during zebrafish gastrulation. , 2007, Developmental biology.

[7]  R. Krauss.  Holoprosencephaly: new models, new insights , 2007, Expert Reviews in Molecular Medicine.

[8]  L. Pasquier,et al.  Holoprosencephaly , 2007, Orphanet journal of rare diseases.

[9]  R. Dietz,et al.  Mutations in the EGF-CFC Gene Cryptic Are an Infrequent Cause of Congenital Heart Disease , 2006, Pediatric Cardiology.

[10]  M. Cohen,et al.  Holoprosencephaly: clinical, anatomic, and molecular dimensions. , 2006, Birth defects research. Part A, Clinical and molecular teratology.

[11]  C. Ibáñez,et al.  Synergistic interaction between Gdf1 and Nodal during anterior axis development. , 2006, Developmental biology.

[12]  Wei Zhang,et al.  Cdo functions at multiple points in the Sonic Hedgehog pathway, and Cdo-deficient mice accurately model human holoprosencephaly. , 2006, Developmental cell.

[13]  M. Matzuk,et al.  The Vg1-related protein Gdf3 acts in a Nodal signaling pathway in the pre-gastrulation mouse embryo , 2005, Development.

[14]  M. Buckingham,et al.  Building the mammalian heart from two sources of myocardial cells , 2005, Nature Reviews Genetics.

[15]  Johnathon R. Walls,et al.  Foxh1 is essential for development of the anterior heart field. , 2004, Developmental cell.

[16]  Chigako Uwabe,et al.  Phenotypic variability in human embryonic holoprosencephaly in the Kyoto Collection. , 2004, Birth defects research. Part A, Clinical and molecular teratology.

[17]  A. Baldini.  DiGeorge syndrome: an update , 2004, Current opinion in cardiology.

[18]  P. Bates,et al.  Recognition of Phosphorylated-Smad2-Containing Complexes by a Novel Smad Interaction Motif , 2004, Molecular and Cellular Biology.

[19]  E. Goldmuntz,et al.  NKX2.5 mutations in patients with congenital heart disease. , 2004, Journal of the American College of Cardiology.

[20]  A. Schier.  Nodal signaling in vertebrate development. , 2003, Annual review of cell and developmental biology.

[21]  E. Goldmuntz,et al.  NKX2.5mutations in patients with congenital heart disease , 2003 .

[22]  Thomas Brand,et al.  Heart development: molecular insights into cardiac specification and early morphogenesis. , 2003, Developmental biology.

[23]  F. Cole,et al.  Microform Holoprosencephaly in Mice that Lack the Ig Superfamily Member Cdon , 2003, Current Biology.

[24]  Maximilian Muenke,et al.  Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. , 2002, American journal of human genetics.

[25]  Antonio Baldini,et al.  DiGeorge syndrome: the use of model organisms to dissect complex genetics. , 2002, Human molecular genetics.

[26]  M. Shen,et al.  Dual Roles of Cripto as a Ligand and Coreceptor in the Nodal Signaling Pathway , 2002, Molecular and Cellular Biology.

[27]  E. Goldmuntz,et al.  NKX2.5 mutations in patients with tetralogy of fallot. , 2002 .

[28]  A. Schier,et al.  A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects , 2002, Human Genetics.

[29]  J. dela Cruz,et al.  CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. , 2002, American journal of human genetics.

[30]  Hiroshi Hamada,et al.  Establishment of vertebrate left–right asymmetry , 2002, Nature Reviews Genetics.

[31]  M. Whitman.  Nodal signaling in early vertebrate embryos: themes and variations. , 2001, Developmental cell.

[32]  M. Muenke,et al.  Midline and laterality defects: Left and right meet in the middle † , 2001, BioEssays : news and reviews in molecular, cellular and developmental biology.

[33]  J. Rossant,et al.  FoxH1 (Fast) functions to specify the anterior primitive streak in the mouse. , 2001, Genes & development.

[34]  D. Kessler,et al.  Mesendoderm induction and reversal of left-right pattern by mouse Gdf1, a Vg1-related gene. , 2000, Developmental biology.

[35]  Alexander F. Schier,et al.  Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects , 2000, Nature Genetics.

[36]  E. McCabe,et al.  Modifier genes convert "simple" Mendelian disorders to complex traits. , 2000, Molecular genetics and metabolism.

[37]  J. Vockley,et al.  Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. , 2000, Molecular genetics and metabolism.

[38]  C. Rankin,et al.  Regulation of left-right patterning in mice by growth/differentiation factor-1 , 2000, Nature Genetics.

[39]  S. Germain,et al.  Homeodomain and winged-helix transcription factors recruit activated Smads to distinct promoter elements via a common Smad interaction motif. , 2000, Genes & development.

[40]  C. Birchmeier,et al.  A role of the cryptic gene in the correct establishment of the left–right axis , 1999, Current Biology.

[41]  R. Beddington,et al.  Axis Development and Early Asymmetry in Mammals , 1999, Cell.

[42]  A. Wynshaw-Boris,et al.  Cripto is required for correct orientation of the anterior–posterior axis in the mouse embryo , 1998, Nature.

[43]  E. Li,et al.  Smad2 role in mesoderm formation, left–right patterning and craniofacial development , 1998, Nature.

[44]  D. Schlessinger,et al.  X-linked situs abnormalities result from mutations in ZIC3 , 1997, Nature Genetics.

[45]  Linda Lowe,et al.  Nodal is a novel TGF-β-like gene expressed in the mouse node during gastrulation , 1993, Nature.

[46]  K. Shiota,et al.  Holoprosencephaly in human embryos: epidemiologic studies of 150 cases. , 1977, Teratology.

[47]  J. Belmont,et al.  Genetics of human heterotaxias , 2006, European Journal of Human Genetics.