Synergistic Mutations of LRP6 and WNT10A in Familial Tooth Agenesis

Targeted next-generation sequencing (NGS) analysis of mutations in nonsyndromic tooth agenesis candidate genes

(2021) Gül Keskin et al.   Journal of Orofacial Orthopedics-Fortschritte der Kieferorthopadie

Investigation of a Novel LRP6 Variant Causing Autosomal-Dominant Tooth Agenesis

(2021) Yan-xia Huang et al.   Frontiers in Genetics

Regulation of the Low-Density Lipoprotein Receptor-Related Protein LRP6 and Its Association With Disease: Wnt/β-Catenin Signaling and Beyond

(2021) Wonyoung Jeong et al.   Frontiers in Cell and Developmental Biology

Analyses of oligodontia phenotypes and genetic etiologies

(2021) Mengqi Zhou et al.   International Journal of Oral Science

High Bone Mass From Mutation Of Low-Density Lipoprotein Receptor-Related Protein 6 (LRP6)

(2020) María Lorena Brance et al.   BONE

A novel missense mutation of LRP6 identified by whole‐exome sequencing in a Chinese family with nonsyndromic tooth agenesis

(2020) Huijuan Wang et al.   Orthodontics & Craniofacial Research

PremPS: Predicting the impact of missense mutations on protein stability

(2020) Yuting Chen et al.   PLoS Computational Biology

New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6

(2019) Michael P. Whyte et al.   BONE

Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three‐generation clinical report

(2019) Jamila Ross et al.   Molecular Genetics & Genomic Medicine

Genomic medicine for undiagnosed diseases

(2019) Anastasia L Wise et al.   LANCET

Digenic inheritance and genetic modifiers

(2018) C. Deltas   CLINICAL GENETICS

Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes

(2018) B.P. Fournier et al.   JOURNAL OF DENTAL RESEARCH

Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes

(2018) Mirta Basha et al.   JOURNAL OF MEDICAL GENETICS

Genetic analysis: Wnt and other pathways in non-syndromic tooth agenesis

(2018) Miao Yu et al.   ORAL DISEASES

The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis

(2018) Meredith Williams et al.   Genes

Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis

(2017) N. Dinckan et al.   JOURNAL OF DENTAL RESEARCH

The Biology Underlying Abnormalities of Tooth Number in Humans

(2017) E. Juuri et al.   JOURNAL OF DENTAL RESEARCH

Advancements in Next-Generation Sequencing

(2016) Shawn E. Levy et al.   Annual Review of Genomics and Human Genetics

Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families

(2016) Yasmin A Issa et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

(2016) Charlotte W. Ockeloen et al.   GENETICS IN MEDICINE

Population structure of Han Chinese in the modern Taiwanese population based on 10,000 participants in the Taiwan Biobank project

(2016) Chien-Hsiun Chen et al.   HUMAN MOLECULAR GENETICS

The rules and impact of nonsense-mediated mRNA decay in human cancers

(2016) Rik G H Lindeboom et al.   NATURE GENETICS

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia

(2015) Maarten P.G. Massink et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare LRP6 Variants Identified in Spina Bifida Patients

(2015) Yunping Lei et al.   HUMAN MUTATION

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

(2015) Megana K Prasad et al.   JOURNAL OF MEDICAL GENETICS

Diagnostic Clinical Genome and Exome Sequencing

(2014) Leslie G. Biesecker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Taurodontism, variations in tooth number, and misshapened crowns inWnt10anull mice and human kindreds

(2014) Jie Yang et al.   Molecular Genetics & Genomic Medicine

WNT10Amutations also associated with agenesis of the maxillary permanent canines, a separate entity

(2013) P. Kantaputra et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

WNT10A variants are associated with non-syndromic tooth agenesis in the general population

(2013) Shujuan Song et al.   HUMAN GENETICS

Mutations inWNT10Aare present in more than half of isolated hypodontia cases

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

Frizzled and LRP5/6 Receptors for Wnt/ -Catenin Signaling

(2012) B. T. MacDonald et al.   Cold Spring Harbor Perspectives in Biology

Structural and Functional Studies of LRP6 Ectodomain Reveal a Platform for Wnt Signaling

(2011) Shuo Chen et al.   DEVELOPMENTAL CELL

Crystal structures of the extracellular domain of LRP6 and its complex with DKK1

(2011) Zhihong Cheng et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

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

Understanding synergy in genetic interactions

(2009) José Manuel Pérez-Pérez et al.   TRENDS IN GENETICS