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

Rare LRP6 Variants Identified in Spina Bifida Patients

(2015) Yunping Lei et al.   HUMAN MUTATION

Spectrum of Dental Phenotypes in Nonsyndromic Orofacial Clefting

(2015) B.J. Howe et al.   JOURNAL OF DENTAL RESEARCH

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Tooth agenesis patterns and phenotype variation in a cohort of Belgian patients with hypodontia and oligodontia clustered in 79 families with their pedigrees

(2013) Karoline Dreesen et al.   EUROPEAN JOURNAL OF ORTHODONTICS

Rare NonconservativeLRP6Mutations Are Associated with Metabolic Syndrome

(2013) Rajvir Singh et al.   HUMAN MUTATION

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

(2013) James R Lupski et al.   Genome Medicine

Mutations inWNT10Aare present in more than half of isolated hypodontia cases

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

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Lrp6-mediated canonical Wnt signaling is required for lip formation and fusion

(2009) L. Song et al.   DEVELOPMENT

Tooth Agenesis: from Molecular Genetics to Molecular Dentistry

(2009) E. Matalova et al.   JOURNAL OF DENTAL RESEARCH

Parathyroid hormone signaling through low-density lipoprotein-related protein 6

(2008) M. Wan et al.   GENES & DEVELOPMENT

Wnt Signal Amplification via Activity, Cooperativity, and Regulation of Multiple Intracellular PPPSP Motifs in the Wnt Co-receptor LRP6

(2008) Bryan T. MacDonald et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Where Wnts Went: The Exploding Field of Lrp5 and Lrp6 Signaling in Bone

(2008) Bart O Williams et al.   JOURNAL OF BONE AND MINERAL RESEARCH