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Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome
TLDR
The results demonstrate an essential function for Lmx1b in mouse limb and kidney development and suggest that NPS might result from mutations in the human LMX1B gene. Expand
Dimorphic effects of Notch signaling in bone homeostasis
TLDR
It is shown that osteoblast-specific gain of Notch function causes severe osteosclerosis owing to increased proliferation of immature osteoblasts, which highlights the potential dimorphic effects of notch signaling in bone homeostasis and may provide direction for novel therapeutic applications. Expand
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia
TLDR
DNA-binding studies with the mutant polypeptides show that these amino acid substitutions abolish the DNA-binding ability of OSF2/CBFA1 to its known target sequence, and direct genetic evidence that the phenotype is secondary to an alteration of osteoblast differentiation is provided. Expand
CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta
TLDR
In humans, CRTAP mutations are associated with the clinical spectrum of recessive osteogenesis imperfecta, including the type II and VII forms, and dysregulation of prolyl 3-hydroxylation is a mechanism for connective tissue disease. Expand
Type X collagen gene regulation by Runx2 contributes directly to its hypertrophic chondrocyte–specific expression in vivo
TLDR
It is shown that a 4-kb murine Col10a1 promoter can drive β-galactosidase expression in lower hypertrophic chondrocytes in transgenic mice, and data suggest that Col 10a1 is a direct transcriptional target of Runx2 during chondrogenesis. Expand
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
TLDR
A cohort of five consanguineous Turkish families with moderately severe recessively inherited OI was studied and a novel locus for OI on chromosome 17 was identified and it was determined that FKBP10 mutations affect type I procollagen secretion. Expand
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
TLDR
It is proposed that recurrent reciprocal microdeletions and microduplications within 1q21.1 represent previously unknown genomic disorders characterized by abnormal head size along with a spectrum of developmental delay, neuropsychiatric abnormalities, dysmorphic features and congenital anomalies. Expand
Dominance of SOX9 function over RUNX2 during skeletogenesis
TLDR
SOX9 is dominant over RUNX2 function in mesenchymal precursors that are destined for a chondrogenic lineage during endochondral ossification and is physiologically relevant in human campomelic dysplasia. Expand
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
TLDR
A unique role for LMX1B in renal development and in patterning of the skeletal system is demonstrated, and it is suggested that alteration of Lmxlb/LMx1B function in mice and humans results in similar phenotypes. Expand
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
TLDR
Three of 10 children with lethal or severe osteogenesis imperfecta were found to have a recessive condition resulting in CRTAP deficiency, suggesting that prolyl 3-hydroxylation of type I collagen is important for bone formation. Expand
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