Abstract
TGF-beta plays a role in cell migration, proliferation, and differentiation during embryonic development. This study investigated the effect of neural crest- or mesodermspecific loss of TGF-beta type II receptor in mice. These conditional knockout mice both exhibit skin defects of the skull associated with an underlying bone defect, a phenotype consistent with the human disorder aplasia cutis congenita. The authors suggest that TGF-3 type II receptor gene is a candidate gene for aplasia cutis congenita.
Publication types
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Research Support, N.I.H., Extramural
MeSH terms
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Activating Transcription Factor 2 / genetics
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Animals
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Cell Lineage / genetics
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Disease Models, Animal
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Ectodermal Dysplasia / etiology*
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Ectodermal Dysplasia / genetics
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Humans
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Mesoderm / pathology
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Mice
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Mice, Knockout
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Mice, Transgenic
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Myogenic Regulatory Factor 5 / genetics
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Neural Crest / pathology
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Phenotype
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Protein Serine-Threonine Kinases / genetics
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Protein Serine-Threonine Kinases / physiology*
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Proteins / genetics
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RNA, Untranslated
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Receptor, Transforming Growth Factor-beta Type II
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Receptors, Transforming Growth Factor beta / genetics
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Receptors, Transforming Growth Factor beta / physiology*
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Signal Transduction / genetics
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Signal Transduction / physiology*
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Skull / abnormalities
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Transforming Growth Factor beta / genetics
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Transforming Growth Factor beta / physiology*
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Wnt1 Protein / genetics
Substances
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Activating Transcription Factor 2
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Gt(ROSA)26Sor non-coding RNA, mouse
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Myf5 protein, mouse
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Myogenic Regulatory Factor 5
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Proteins
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RNA, Untranslated
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Receptors, Transforming Growth Factor beta
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Transforming Growth Factor beta
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Wnt1 Protein
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Protein Serine-Threonine Kinases
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Receptor, Transforming Growth Factor-beta Type II