How a Hedgehog might see holoprosencephaly
نویسندگان
چکیده
منابع مشابه
see how children grow
it is necessary for community health nurses to be aware of children growth velocity as well as their height. this is a report of joan arton’s study on primary schools children. traditionally children health indicators were based on if they gain enough weight or not. although today it is proved that height is a better index for children health, but measuring height alone is not enough and growth...
متن کاملMolecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly.
Holoprosencephaly (HPE), a human developmental brain defect, usually is also associated with varying degrees of midline facial dysmorphism. Heterozygous mutations in the Sonic hedgehog (SHH) gene are the most common genetic lesions associated with HPE, and loss of Shh function in the mouse produces cyclopia and alobar forebrain development. The N-terminal domain (ShhNp) of Sonic hedgehog protei...
متن کاملMutations in Hedgehog Acyltransferase (Hhat) Perturb Hedgehog Signaling, Resulting in Severe Acrania-Holoprosencephaly-Agnathia Craniofacial Defects
Holoprosencephaly (HPE) is a failure of the forebrain to bifurcate and is the most common structural malformation of the embryonic brain. Mutations in SHH underlie most familial (17%) cases of HPE; and, consistent with this, Shh is expressed in midline embryonic cells and tissues and their derivatives that are affected in HPE. It has long been recognized that a graded series of facial anomalies...
متن کاملThe mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
Holoprosencephaly (HPE) is a common developmental anomaly of the human forebrain and midface where the cerebral hemispheres fail to separate into distinct left and right halves. We have previously reported haploinsufficiency for Sonic Hedgehog ( SHH ) as a cause for HPE. We have now performed mutational analysis of the complete coding region and intron-exon junctions of the SHH gene in 344 unre...
متن کاملHow Spiroplasma might swim.
Spiroplasmas are small helical bacteria without rigid walls. They have a cytoskeleton in the form of a flat ribbon that runs the length of the cell. In an ordinary liquid medium, a cell spins about its long axis, but it does not translate. In a gel-like medium, containing a viscous agent like methylcellulose, it moves rapidly in a direction parallel to its long axis. Here I suggest how a cytosk...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2003
ISSN: 1460-2083
DOI: 10.1093/hmg/ddg058