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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
This study reports the first disease-causing mutations in RTT and points to abnormal epigenetic regulation as the mechanism underlying the pathogenesis of RTT.
Tyrosine kinase receptor with extensive homology to EGF receptor shares chromosomal location with neu oncogene.
A novel potential cell surface receptor of the tyrosine kinase gene family has been identified and characterized by molecular cloning. Its primary sequence is very similar to that of the human
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21
It is suggested that the 1.5-fold increase in dosage of DSCR1 and DYRK1A cooperatively destabilizes a regulatory circuit, leading to reduced NFATc activity and many of the features of Down's syndrome, and the destabilization of regulatory circuits can underlie human disease.
Human proto‐oncogene c‐kit: a new cell surface receptor tyrosine kinase for an unidentified ligand.
The results suggest that p145c‐kit functions as a cell surface receptor for an as yet unidentified ligand, and carboxy‐ and amino‐terminal truncations that occurred during the viral transduction process are likely to have generated the transformation potential of v‐kit.
A mouse model for Prader-Willi syndrome imprinting-centre mutations
It is indicated that the mouse is a suitable model system in which to investigate the molecular mechanisms of imprinting in the 15q11–q13 region, and both the position of the IC and its role in the coordinate expression of genes is conserved between mouse and human.
Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease
A substantial, but by no means total, contribution of genetics underlying susceptibility to both early-onset and late-ONSet PD is indicated, suggesting that, despite the novel associations discovered here and elsewhere, the majority of the genetic component for Parkinson's disease remains to be discovered.
Identification of a gene (GPR30) with homology to the G-protein-coupled receptor superfamily associated with estrogen receptor expression in breast cancer.
The pattern of expression of GPCR-Br indicates that this receptor may be involved in physiologic responses specific to hormonally responsive tissues.
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
Some males with RTT-causing MECP2 mutations may survive to birth, and female heterozygotes with favorably skewed X-inactivation patterns may have little or no involvement.