Abnormality of the skeletal system

Known as: Skeletal abnormalities, Skeletal anomalies 
An abnormality of the skeletal system. [HPO:probinson]
National Institutes of Health

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Highly Cited
2006
Highly Cited
2006
Impaired skeletal development in interleukin-6-transgenic mice: a model for the impact of chronic inflammation on the growing skeletal system.
OBJECTIVE To identify the mediator responsible for the impact of chronic inflammation on skeletal development in children (bone… (More)
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Highly Cited
2001
Highly Cited
2001
Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization.
In humans, SOX9 heterozygous mutations cause the severe skeletal dysmorphology syndrome campomelic dysplasia. Except for clinical… (More)
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Highly Cited
2000
Highly Cited
2000
The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.
Turner syndrome is characterized by short stature and is frequently associated with a variable spectrum of somatic features… (More)
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Highly Cited
1998
Highly Cited
1998
Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities.
Npt2 encodes a renal-specific, brush-border membrane Na+-phosphate (Pi) cotransporter that is expressed in the proximal tubule… (More)
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Highly Cited
1997
Highly Cited
1997
Cbfa1, a Candidate Gene for Cleidocranial Dysplasia Syndrome, Is Essential for Osteoblast Differentiation and Bone Development
We have generated Cbfa1-deficient mice. Homozygous mutants die of respiratory failure shortly after birth. Analysis of their… (More)
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Highly Cited
1997
Highly Cited
1997
Specific and redundant functions of Gli2 and Gli3 zinc finger genes in skeletal patterning and development.
The correct patterning of vertebrate skeletal elements is controlled by inductive interactions. Two vertebrate hedgehog proteins… (More)
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Highly Cited
1997
Highly Cited
1997
SOX9 is a potent activator of the chondrocyte-specific enhancer of the pro alpha1(II) collagen gene.
The identification of mutations in the SRY-related SOX9 gene in patients with campomelic dysplasia, a severe skeletal… (More)
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Review
1995
Review
1995
Toward a molecular understanding of skeletal development
Much of our knowledge about cartilage and bone has come from descriptive anatomy, endocrinology, and cellular studies of bone… (More)
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Highly Cited
1994
Highly Cited
1994
Function of the retinoic acid receptors (RARs) during development (I). Craniofacial and skeletal abnormalities in RAR double mutants.
Numerous congenital malformations have been observed in fetuses of vitamin A-deficient (VAD) dams [Wilson, J. G., Roth, C. B… (More)
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Highly Cited
1992
Highly Cited
1992
Targeted inactivation of the muscle regulatory gene Myf-5 results in abnormal rib development and perinatal death.
The Myf-5 gene, a member of the myogenic basic HLH factor family, has been inactivated in mice after homologous recombination in… (More)
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