Liza L. Cox
YOU?
Author Swipe
View article: IRF6 C-terminal phosphorylation links inflammation and cell–cell adhesion in oral keratinocytes: implications for oral lichen planus
IRF6 C-terminal phosphorylation links inflammation and cell–cell adhesion in oral keratinocytes: implications for oral lichen planus Open
View article: Correction to “A mutational hotspot in <i>AMOTL1</i> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature”
Correction to “A mutational hotspot in <i>AMOTL1</i> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature” Open
View article: Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model
Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model Open
Down syndrome (DS), the genetic condition caused by trisomy 21, is characterized by variable cognitive impairment, immune dysregulation, dysmorphogenesis and increased prevalence of diverse co-occurring conditions. The mechanisms by which …
View article: A mutational hotspot in <scp><i>AMOTL1</i></scp> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature
A mutational hotspot in <span><i>AMOTL1</i></span> defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature Open
AMOTL1 encodes angiomotin‐like protein 1, an actin‐binding protein that regulates cell polarity, adhesion, and migration. The role of AMOTL1 in human disease is equivocal. We report a large cohort of individuals harboring heterozygous AMOT…
View article: Interferon receptor gene dosage determines diverse hallmarks of Down syndrome
Interferon receptor gene dosage determines diverse hallmarks of Down syndrome Open
Trisomy 21 causes Down syndrome, a condition characterized by cognitive impairments, immune dysregulation, and atypical morphogenesis. Using whole blood transcriptome analysis, we demonstrate that specific overexpression of four interferon…
View article: Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome Open
View article: Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans Open
Cleft lip with or without cleft palate (CL/P) is generally viewed as a complex trait with multiple genetic and environmental contributions. In 70% of cases, CL/P presents as an isolated feature and/or deemed nonsyndromic. In the remaining …
View article: Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate Open
View article: Disrupted IRF6-NME1/2 Complexes as a Cause of Cleft Lip/Palate
Disrupted IRF6-NME1/2 Complexes as a Cause of Cleft Lip/Palate Open
Mutations and common polymorphisms in interferon regulatory factor 6 ( IRF6) are associated with both syndromic and nonsyndromic forms of cleft lip/palate (CLP). To date, much of the focus on this transcription factor has been on identifyi…
View article: A distal 594bp ECR specifies <i>Hmx1</i> expression in pinna and lateral facial morphogenesis and is regulated by Hox-Pbx-Meis
A distal 594bp ECR specifies <i>Hmx1</i> expression in pinna and lateral facial morphogenesis and is regulated by Hox-Pbx-Meis Open
Hmx1 encodes a homeodomain transcription factor expressed in the developing lateral craniofacial mesenchyme, retina and sensory ganglia. Mutation or mis-regulation of Hmx1 underlies malformations of the eye and external ear in multiple spe…