Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
- R. Amir, I. V. D. Veyver, Mimi Wan, C. Q. Tran, U. Francke, H. Zoghbi
- BiologyNature Genetics
- 1 October 1999
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.
- L. Coussens, T. Yang-Feng, U. Francke
- BiologyScience
- 6 December 1985
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
- J. Arron, M. Winslow, G. Crabtree
- BiologyNature
- 1 June 2006
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.
Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
- J. Derry, H. Ochs, U. Francke
- Biology, MedicineCell
- 26 August 1994
Human proto‐oncogene c‐kit: a new cell surface receptor tyrosine kinase for an unidentified ligand.
- Y. Yarden, W. Kuang, A. Ullrich
- Biology, ChemistryEMBO Journal
- 1 November 1987
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.
Identification of a gene (GPR30) with homology to the G-protein-coupled receptor superfamily associated with estrogen receptor expression in breast cancer.
- C. Carmeci, D. Thompson, H. Ring, U. Francke, R. Weigel
- BiologyGenomics
- 1 November 1997
The pattern of expression of GPCR-Br indicates that this receptor may be involved in physiologic responses specific to hormonally responsive tissues.
Web-Based Genome-Wide Association Study Identifies Two Novel Loci and a Substantial Genetic Component for Parkinson's Disease
- Chuong B. Do, J. Tung, N. Eriksson
- BiologyPLoS Genetics
- 1 June 2011
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.
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
The distribution and frequency of deletions spanning the entire locus suggests that many "in-frame" deletions of the dystrophin gene are not detected because the individuals bearing them are either asymptomatic or exhibit non-DMD/non-BMD clinical features.
A mouse model for Prader-Willi syndrome imprinting-centre mutations
- T. Yang, T. E. Adamson, C. Brannan
- BiologyNature Genetics
- 8 June 1998
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.
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