TFAP2A mutations result in branchio-oculo-facial syndrome (Q24655671)

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Tom A Maher

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Geping Zhao

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Amy E Roberts

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Heather J Stalker

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Roberto T Zori

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Michelle N Burch

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Michele Clemens

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John B Mulliken

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Rosemarie Smith

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Angela E Lin

American Journal of Human Genetics

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language of work or name

English

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publication date

May 2008

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published in

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volume

82

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issue

5

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page(s)

1171-7

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cites work

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

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Transcriptional activation by Myc is under negative control by the transcription factor AP-2

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Transcription factor AP-2 essential for cranial closure and craniofacial development

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Identification and analysis of a conserved Tcfap2a intronic enhancer element required for expression in facial and limb bud mesenchyme

7 April 2017

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AP-2alpha transcription factor is required for early morphogenesis of the lens vesicle

7 April 2017

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AP-2-null cells disrupt morphogenesis of the eye, face, and limbs in chimeric mice

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Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2

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The AP-2alpha transcription factor regulates tumor cell migration and apoptosis.

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Loss of the AP-2alpha transcription factor is associated with the grade of human gliomas.

28 September 2017

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Frontonasal process-specific disruption of AP-2alpha results in postnatal midfacial hypoplasia, vascular anomalies, and nasal cavity defects

28 September 2017

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Further delineation of the branchio-oculo-facial syndrome

28 September 2017

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An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development

28 September 2017

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Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities

30 May 2018

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An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice

30 May 2018

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Loss of AP-2 results in up-regulation of MCAM/MUC18 and an increase in tumor growth and metastasis of human melanoma cells

28 November 2018

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Association of autosomal dominant cleft lip and palate and translocation 6p23;9q22.3

28 November 2018

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Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome

28 November 2018

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12 December 2020

Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs

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12 December 2020

Targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families

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12 December 2020

Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio

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12 December 2020

AP2alpha alters the transcriptional activity and stability of p53

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12 December 2020

Exclusion of genes from the EYA-DACH-SIX-PAX pathway as candidates for Branchio-Oculo-Facial syndrome (BOFS)

1 reference

12 December 2020

10.1016/J.AJHG.2008.03.005

Identifiers

DOI

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PubMed publication ID

18423521

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