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DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system.
It is proposed that DSCAM is involved in neural differentiation and contributes to the central and peripheral nervous system defects in DS.
Down syndrome phenotypes: the consequences of chromosomal imbalance.
- J. Korenberg, X. Chen, C. Disteche
- Medicine, BiologyProceedings of the National Academy of Sciences…
- 24 May 1994
Evidence is provided for a significant contribution of genes outside the D21S55 region to the DS phenotypes, including the facies, microcephaly, short stature, hypotonia, abnormal dermatoglyphics, and mental retardation, which strongly suggests DS is a contiguous gene syndrome and augurs against a single DS chromosomal region responsible for most of the phenotypic features.
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies
- J. Korbel, T. Tirosh-Wagner, J. Korenberg
- BiologyProceedings of the National Academy of Sciences
- 21 July 2009
A high-resolution genetic map of DS phenotypes based on an analysis of 30 subjects carrying rare segmental trisomies of various regions of HSA21 is presented, demonstrating the value of combining advanced genomics with cohorts of rare patients for studying DS, a prototype for the role of copy-number variation in complex disease.
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
A CAG trinucleotide repeat with CAA interruptions that was expanded in patients with SCA2, which is a member of a novel gene family and not highly polymorphic in normal individuals is identified.
Symmetry of Cortical Folding Abnormalities in Williams Syndrome Revealed by Surface-Based Analyses
- D. V. van Essen, D. Dierker, A. Snyder, M. Raichle, A. Reiss, J. Korenberg
- PsychologyThe Journal of Neuroscience
- 17 May 2006
Analysis of surface-based analyses applied to structural magnetic resonance imaging data provides insights regarding possible developmental mechanisms that give rise to folding abnormalities and to the spectrum of behavioral characteristics associated with Williams syndrome.
Bridging cognition, the brain and molecular genetics: evidence from Williams syndrome
Structural organization of mouse peroxisome proliferator-activated receptor gamma (mPPAR gamma) gene: alternative promoter use and different splicing yield two mPPAR gamma isoforms.
The results establish that at least one of the PPAR genes yields more than one protein product, similar to that encountered with retinoid X receptor and retinoic acid receptor genes.
Down syndrome suppression of tumor growth and the role of the calcineurin inhibitor DSCR1
The modest increase in expression afforded by a single extra transgenic copy of Dscr1 is sufficient to confer significant suppression of tumour growth in mice, and that resistance is a consequence of a deficit in tumour angiogenesis arising from suppression of the calcineurin pathway.
Abnormal Cortical Complexity and Thickness Profiles Mapped in Williams Syndrome
An anatomically localized failure of cortical maturation in Williams syndrome is identified, a genetic condition associated with deletion of ∼20 contiguous genes on chromosome 7, and regions with altered cortical thickness in WS are identified with increased complexity and thickness.
Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome.
A child is presented with a clinical phenotype consistent with deletion 3p syndrome and a subtle interstitial deletion in the distal portion of the short arm of chromosome 3, del(3)(p25.3p26)2, which represents the smallest reported deletion associated with deletion 2p syndrome.