Candidate Gene Analysis of Tooth Agenesis Identifies Novel Mutations in Six Genes and Suggests Significant Role for WNT and EDA Signaling and Allele Combinations

Mutations inWNT10Aare frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

(2013) Julie Plaisancié et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Modeling Recent Human Evolution in Mice by Expression of a Selected EDAR Variant

(2013) Yana G. Kamberov et al.   CELL

Tooth shape formation and tooth renewal: evolving with the same signals

(2012) J. Jernvall et al.   DEVELOPMENT

Mutations inWNT10Aare present in more than half of isolated hypodontia cases

(2012) Marie-José van den Boogaard et al.   JOURNAL OF MEDICAL GENETICS

Structural Basis of Wnt Recognition by Frizzled

(2012) C. Y. Janda et al.   SCIENCE

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes

(2011) Birgitta Bergendal et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A

(2011) Gabriela Petrof et al.   AUSTRALASIAN JOURNAL OF DERMATOLOGY

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

(2010) Céline Cluzeau et al.   HUMAN MUTATION

An Arginine Stretch Limits ADAM10 Exit from the Endoplasmic Reticulum

(2010) Elena Marcello et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dental agenesis: genetic and clinical perspectives

(2010) P. J. De Coster et al.   JOURNAL OF ORAL PATHOLOGY & MEDICINE

WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

(2009) Axel Bohring et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Common Variation in EDAR Is a Genetic Determinant of Shovel-Shaped Incisors

(2009) Ryosuke Kimura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Reciprocal Requirements for EDA/EDAR/NF-κB and Wnt/β-Catenin Signaling Pathways in Hair Follicle Induction

(2009) Yuhang Zhang et al.   DEVELOPMENTAL CELL

Functional analysis of Ectodysplasin-A mutations causing selective tooth agenesis

(2009) Gabriele Mues et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

EDA Gene Mutations Underlie Non-syndromic Oligodontia

(2009) S. Song et al.   JOURNAL OF DENTAL RESEARCH

Genetic basis of tooth agenesis

(2009) Pekka Nieminen   JOURNAL OF EXPERIMENTAL ZOOLOGY PART B-MOLECULAR AND DEVELOPMENTAL EVOLUTION

Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia

(2008) Annemarie H van der Hout et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Agenesis of permanent teeth in 8138 Danish schoolchildren: prevalence and intra-oral distribution according to gender

(2008) STEEN RØLLING et al.   International Journal of Paediatric Dentistry

Non-Syndromic Tooth Agenesis in Two Chinese Families Associated with Novel Missense Mutations in the TNF Domain of EDA (Ectodysplasin A)

(2008) Shufeng Li et al.   PLoS One