Genetics and signaling mechanisms of orofacial clefts

Kurt Reynolds, Shuwen Zhang, Bo Sun, Michael A. Garland, Yu Ji, Chengji J. Zhou

Research output: Contribution to journalReview articlepeer-review

1 Scopus citations

Abstract

Craniofacial development involves several complex tissue movements including several fusion processes to form the frontonasal and maxillary structures, including the upper lip and palate. Each of these movements are controlled by many different factors that are tightly regulated by several integral morphogenetic signaling pathways. Subject to both genetic and environmental influences, interruption at nearly any stage can disrupt lip, nasal, or palate fusion and result in a cleft. Here, we discuss many of the genetic risk factors that may contribute to the presentation of orofacial clefts in patients, and several of the key signaling pathways and underlying cellular mechanisms that control lip and palate formation, as identified primarily through investigating equivalent processes in animal models, are examined.

Original languageEnglish (US)
JournalBirth Defects Research
DOIs
StateAccepted/In press - 2020

Keywords

  • Bmp/Tgfb signaling
  • cleft lip/palate
  • Fgf signaling
  • human genetics
  • mouse models
  • retinoic acid signaling
  • Shh signaling
  • signaling crosstalk
  • syndromic/non-syndromic
  • Wnt signaling

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Toxicology
  • Developmental Biology
  • Health, Toxicology and Mutagenesis

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