Bone Overgrowth-associated Mutations in the LRP4 Gene Impair Sclerostin Facilitator Function

Olivier Leupin, Elke Piters, Christine Halleux, +18

Journal of Biological Chemistry

A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone

Igor Fijałkowski, Ellen Geets, Ellen Steenackers, +6

Journal of Bone and Mineral Research

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

Adrián Palencia‐Campos, Phillip C. Aoto, Erik M.F. Machal, +39

The American Journal of Human Genetics

Developmental AnomalyMosaic VariantsDevelopmental BiologyDysplasiaPrkacb Cause +7

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

Mathilde Huckert, Corinne Stoetzel, Supawich Morkmued, +33

Human Molecular Genetics

GeneticsPathologyGene Cause BrachyolmiaDental MorphologyOdontology +14

Variation in the Kozak sequence of WNT16 results in an increased translation and is associated with osteoporosis related parameters

Gretl Hendrickx, Eveline Boudin, Igor Fijałkowski, +4

Bone

Bone DiseaseBone HealthGeneticsTranslational ResearchKozak Sequence +7

Buried in the Middle but Guilty: Intronic Mutations in the <i>TCIRG1</i> Gene Cause Human Autosomal Recessive Osteopetrosis

Eleonora Palagano, Harry C. Blair, Alessandra Pangrazio, +18

Journal of Bone and Mineral Research

Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities

Eveline Boudin, Tjeerd R. de Jong, Timothy C. R. Prickett, +17

The American Journal of Human Genetics

Allelic VariantSignal TransductionDevelopmental BiologySignaling PathwayReceptor Tyrosine Kinase +8

Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I

Alessandra Pangrazio, Eveline Boudin, Elke Piters, +7

Bone

The <i>Lrp4</i>R1170Q Homozygous Knock-In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans

Eveline Boudin, Timur Yorgan, Igor Fijałkowski, +11

Journal of Bone and Mineral Research

Knockout MouseSclerostinDevelopmental BiologySclerosteosis Mouse ModelBone Morphogenic Protein +13

Novel SOST gene mutation in a sclerosteosis patient and her parents

Sanjay Kumar Bhadada, Ashu Rastogi, Ellen Steenackers, +5

Bone

Systemic SclerodermaGenetic DisorderGeneticsPathogenesisPathology +4