Varaico: Literature-Extracted Genetic Variants

Gene:DLX3
Variant:p.L187_Y188delFs
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DLX3

NM_005220.3:p.L187_Y188delFs

Associated Papers

Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci.

Hany U et al.

Human Mutation, 2025

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.

Bloch-Zupan A et al.

Frontiers in Physiology, 2023

"Isolated" Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case.

Bonnet AL et al.

Case Reports in Genetics, 2020

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

Whitehouse LLE et al.

Oral Diseases, 2019

DLX3-Dependent STAT3 Signaling in Keratinocytes Regulates Skin Immune Homeostasis.

Bhattacharya S et al.

The Journal of Investigative Dermatology, 2018

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

27924851 (PubMed )
Supplement: srep38680-s1.pdf

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

Kim YJ et al.

Oral Diseases, 2016

Taurodontism in Brazilian patients with tooth agenesis and first and second-degree relatives: a case-control study.

Gomes RR et al.

Archives of Oral Biology, 2012

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

Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.

Priolo M

American Journal of Medical Genetics. Part A, 2009

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

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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