Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus (Q40881151)

24 September 2017

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus (English)

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24 September 2017

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Goodship J

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24 September 2017

Satoda M

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24 September 2017

Zhao F

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Diaz GA

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Davidson HR

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Pierpont ME

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Gelb BD

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24 September 2017

language of work or name

English

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publication date

1 May 2000

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24 September 2017

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25

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42-46

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A large family with patent ductus arteriosus and unusual face

24 September 2017

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Characterization of a dimerization motif in AP-2 and its function in heterologous DNA-binding proteins

21 January 2018

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Analysis of the DNA-binding and activation properties of the human transcription factor AP-2

21 January 2018

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Coactivator PC4 mediates AP-2 transcriptional activity and suppresses ras-induced transformation dependent on AP-2 transcriptional interference

21 January 2018

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PolyADP-ribose polymerase is a coactivator for AP-2-mediated transcriptional activation.

21 January 2018

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Regulation of transcription factor AP-2 by the morphogen retinoic acid and by second messengers.

21 January 2018

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Transcription factor AP-2 is expressed in neural crest cell lineages during mouse embryogenesis

21 January 2018

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Cell type-specific regulation of expression of transcription factor AP-2 in neuroectodermal cells

21 January 2018

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Comparative analysis of AP-2 alpha and AP-2 beta gene expression during murine embryogenesis.

21 January 2018

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Enhanced apoptotic cell death of renal epithelial cells in mice lacking transcription factor AP-2beta

21 January 2018

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Neural crest cells contribute to normal aorticopulmonary septation

21 January 2018

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Migration of cranial neural crest cells to the pharyngeal arches and heart in rat embryos

21 January 2018

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Role of Endothelin-1/Endothelin-A receptor-mediated signaling pathway in the aortic arch patterning in mice

21 January 2018

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Persistent truncus arteriosus in the Splotch mutant mouse

21 January 2018

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splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

21 January 2018

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Cardiac malformation in neonatal mice lacking connexin43.

21 January 2018

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Heart malformations in transgenic mice exhibiting dominant negative inhibition of gap junctional communication in neural crest cells.

21 January 2018

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Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

21 January 2018

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Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

21 January 2018

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Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

21 January 2018

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Update on counseling the family with a first-degree relative with a congenital heart defect

21 January 2018

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Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21

21 January 2018

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Cardiac neural crest contribution to the pulmonary artery and sixth aortic arch artery complex in chick embryos aged 6 to 18 days

21 January 2018

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Pathogenesis of persistent truncus arteriosus and dextroposed aorta in the chick embryo after neural crest ablation

21 January 2018

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Connexin 43 expression reflects neural crest patterns during cardiovascular development

21 January 2018

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An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region

21 January 2018

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21 January 2018

Identifiers

DOI

10.1038/75578

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Dimensions Publication ID

24 September 2017

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