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Craniosynostosis-fibular aplasia syndrome (also known as craniosynostosis with fibular aplasia or Lowry syndrome) is a rare syndrome characterized by bicoronal craniosynostosis, absent fibula, cryptorchidism, and bilateral simian creases.
Coffin–Lowry syndrome is an X-linked disorder resulting from loss-of-function mutations in the RPS6KA3 gene, which encodes RSK2 (ribosomal S6 kinase 2).Multiple mutations have been identified in RPS6KA3 that can give rise to the disorder, including missense mutations, nonsense mutations, insertions and deletions.
This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system.
[4] 90% of the individuals who are affected with the syndrome are female: the commonly accepted, though unconfirmed, explanation for this is that the non-mosaic hemizygous males are not viable. [ 5 ] The differential diagnosis of focal dermal hypoplasia (Goltz) syndrome includes autosomal recessive Setleis syndrome due to TWIST2 gene mutations.
A large-scale screen of the Drosophila genome for mutants that exhibited axon guidance defects led to the discovery of the roundabout (robo) mutation. [9] In robo mutants, axons were observed to inappropriately cross and recross the midline. It was subsequently found that the secreted protein Slit was the ligand for the Roundabout receptor. [10]
Lowry-Wood syndrome, also simply known as LWS, is a very rare genetic disorder which is characterized by dysplasia of the epiphysis, low height/short stature, microcephaly, developmental delay, intellectual disabilities, and congenital nystagmus. Less common (but not rare) features include coxa vara and retinitis pigmentosa. Only 10 cases of ...
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In nociception, intense chemical (e.g., capsaicin present in chili pepper or cayenne pepper), mechanical (e.g., cutting, crushing), or thermal (heat and cold) stimulation of sensory neurons called nociceptors produces a signal that travels along a chain of nerve fibers via the spinal cord to the brain. [1]