Signaling Pathways in Human Skeletal Dysplasias

Two doses of sclerostin antibody in cynomolgus monkeys increases bone formation, bone mineral density, and bone strength

(2010) Michael S Ominsky et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

(2009) Katarina Dathe et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Multiple Synostoses Syndrome Is Due to a Missense Mutation in Exon 2 of FGF9 Gene

(2009) Xiao-lin Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A ZRS duplication causes syndactyly type IV with tibial hypoplasia

(2009) Lingqian Wu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A small molecule inhibitor of the Wnt antagonist secreted frizzled-related protein-1 stimulates bone formation

(2009) Peter V.N. Bodine et al.   BONE

Inhibition of Notch pathway prevents osteosarcoma growth by cell cycle regulation

(2009) M Tanaka et al.   BRITISH JOURNAL OF CANCER

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog

(2009) Ashley M Byrnes et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes

(2009) Wibke Schwarzer et al.   HUMAN MOLECULAR GENETICS

Notch signaling contributes to the pathogenesis of human osteosarcomas

(2009) F. Engin et al.   HUMAN MOLECULAR GENETICS

Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes

(2009) M. Asai-Coakwell et al.   HUMAN MOLECULAR GENETICS

Therapeutic Effects of Anti-FGF23 Antibodies in Hypophosphatemic Rickets/Osteomalacia*

(2009) Yukiko Aono et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Axin2 controls bone remodeling through the  -catenin-BMP signaling pathway in adult mice

(2009) Y. Yan et al.   JOURNAL OF CELL SCIENCE

A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range

(2009) Bo Gao et al.   NATURE

FGF9 monomer–dimer equilibrium regulates extracellular matrix affinity and tissue diffusion

(2009) Masayo Harada et al.   NATURE GENETICS

TGF-β1–induced migration of bone mesenchymal stem cells couples bone resorption with formation

(2009) Yi Tang et al.   NATURE MEDICINE

Pharmacologic Inhibition of the TGF-β Type I Receptor Kinase Has Anabolic and Anti-Catabolic Effects on Bone

(2009) Khalid S. Mohammad et al.   PLoS One

Normal growth and development in mice over-expressing the CCN family member WISP3

(2009) Yukio Nakamura et al.   Journal of Cell Communication and Signaling

PTHR1 Loss-of-Function Mutations in Familial, Nonsyndromic Primary Failure of Tooth Eruption

(2008) Eva Decker et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Transcriptional Control of Skeletogenesis

(2008) Gerard Karsenty   Annual Review of Genomics and Human Genetics

Wnt signaling: A win for bone

(2008) Elke Piters et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Mutation of the fucose-specific β1,3 N-acetylglucosaminyltransferase LFNG results in abnormal formation of the spine

(2008) Sally L. Dunwoodie   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Critical Role of Notch Signaling in Osteosarcoma Invasion and Metastasis

(2008) P. Zhang et al.   CLINICAL CANCER RESEARCH

The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome

(2008) R. Raz et al.   DEVELOPMENT

Nitric oxide, C-type natriuretic peptide and cGMP as regulators of endochondral ossification

(2008) Cristina C. Teixeira et al.   DEVELOPMENTAL BIOLOGY

Notch Inhibits Osteoblast Differentiation and Causes Osteopenia

(2008) Stefano Zanotti et al.   ENDOCRINOLOGY

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

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

Mutation of HAIRY-AND-ENHANCER-OF-SPLIT-7 in humans causes spondylocostal dysostosis

(2008) D. B. Sparrow et al.   HUMAN MOLECULAR GENETICS

A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb

(2008) Dominic Furniss et al.   HUMAN MOLECULAR GENETICS

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

(2008) May Tassabehji et al.   HUMAN MUTATION

Sclerostin Antibody Treatment Increases Bone Formation, Bone Mass, and Bone Strength in a Rat Model of Postmenopausal Osteoporosis*

(2008) Xiaodong Li et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Roles of Wnt signalling in bone growth, remodelling, skeletal disorders and fracture repair

(2008) Carmen E. Macsai et al.   JOURNAL OF CELLULAR PHYSIOLOGY

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

(2008) Carine Le Goff et al.   NATURE GENETICS

BMP type I receptor inhibition reduces heterotopic ossification

(2008) Paul B Yu et al.   NATURE MEDICINE

Dimorphic effects of Notch signaling in bone homeostasis

(2008) Feyza Engin et al.   NATURE MEDICINE

Notch signaling maintains bone marrow mesenchymal progenitors by suppressing osteoblast differentiation

(2008) Matthew J Hilton et al.   NATURE MEDICINE

Segmental patterning of the vertebrate embryonic axis

(2008) Mary-Lee Dequéant et al.   NATURE REVIEWS GENETICS

Angiotensin II Blockade and Aortic-Root Dilation in Marfan's Syndrome

(2008) Benjamin S. Brooke et al.   NEW ENGLAND JOURNAL OF MEDICINE

The many facets of Notch ligands

(2008) B D'Souza et al.   ONCOGENE

Brachydactyly

(2008) Samia A Temtamy et al.   Orphanet Journal of Rare Diseases