Varaico: Literature-Extracted Genetic Variants

Gene:DLX3
Variant:p.G191_E192delFs
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DLX3

NM_005220.3:p.G191_E192delFs

Associated Papers

Craniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis.

Faria-Teixeira MC et al.

Pediatric Research, 2024

Novel DLX3 variant identified in a family with tricho-dento-osseous syndrome.

Liu H et al.

Archives of Oral Biology, 2022

DLX3 epigenetically regulates odontoblastic differentiation of hDPCs through H19/miR-675 axis.

Zeng L et al.

Archives of Oral Biology, 2019

Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho-dento-osseous syndrome.

Whitehouse LLE et al.

Oral Diseases, 2019

A de novo germline mutation of DLX3 in a Brown Swiss calf with tricho-dento-osseus-like syndrome.

Hofstetter S et al.

Veterinary Dermatology, 2017

DLX3 interacts with GCM1 and inhibits its transactivation-stimulating activity in a homeodomain-dependent manner in human trophoblast-derived cells.

Li S et al.

Scientific Reports, 2017

Amelogenesis Imperfecta; Genes, Proteins, and Pathways.

Smith CEL et al.

Frontiers in Physiology, 2017

Senescence: novel insight into DLX3 mutations leading to enhanced bone formation in Tricho-Dento-Osseous syndrome.

Zhao N et al.

Scientific Reports, 2016

Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta.

Kim YJ et al.

Oral Diseases, 2016

DLX3 negatively regulates osteoclastic differentiation through microRNA-124.

Zhao N et al.

Experimental Cell Research, 2016

Transcriptional factor DLX3 promotes the gene expression of enamel matrix proteins during amelogenesis.

Zhang Z et al.

Plos One, 2015

Craniofacial variations in the tricho-dento-osseous syndrome.

Nguyen T et al.

Clinical Genetics, 2013

A dominant mutation etiologic for human tricho-dento-osseous syndrome impairs the ability of DLX3 to downregulate ΔNp63α.

Di Costanzo A et al.

Journal of Cellular Physiology, 2011

Mutant DLX 3 disrupts odontoblast polarization and dentin formation.

Choi SJ et al.

Developmental Biology, 2010

Thickness and microhardness of deciduous tooth enamel with known DLX3 mutation.

Hyun HK et al.

Archives of Oral Biology, 2009

Candidate gene strategy reveals ENAM mutations.

Kang HY et al.

Journal of Dental Research, 2009

In vivo impact of a 4 bp deletion mutation in the DLX3 gene on bone development.

Choi SJ et al.

Developmental Biology, 2009

DLX3 mutation in a new family and its phenotypic variations.

Lee SK et al.

Journal of Dental Research, 2008

DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome.

Wright JT et al.

American Journal of Medical Genetics. Part A, 2008

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