Functional genomics of Down syndrome: a multidisciplinary approach.

Functional genomics of Down syndrome: a multidisciplinary approach. Research Abstract Details 

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Functional genomics of Down syndrome: a multidisciplinary approach. Abstract Text:

The availability of the DNA sequence of human chromosome 21 (HSA21) is a landmark contribution that will have an immediate impact on the study of the role of specific genes to Down syndrome (DS). Trisomy 21, full or partial, is a major cause of mental retardation and other phenotypic abnormalities, collectively known as Down syndrome (DS), a disorder affecting 1 in 700 births. The identification of genes on HSA21 and the elucidation of the function of the proteins encoded by these genes have been a major challenge for the human genome project and for research in DS. Over 100 of the estimated 300-500 genes of HSA21 have been identified, but the function of most remains largely unknown. It is believed that the overexpression of an unknown number of HSA21 genes is directly or indirectly responsible for the mental retardation and the other clinical features of DS. For this reason, HSA21 genes that are expressed in tissues affected in DS patients are of special interest.

Functional genomics of Down syndrome: a multidisciplinary approach. Publishing Authors By Initials

For similar enzymes and coenzymes: enzymes: transferases: phosphotransferases: phosphotransferases (alcohol group acceptor): protein kinases: protein-tyrosine kinases research abstracts see: enzymes and coenzymes: enzymes: transferases: phosphotransferases: phosphotransferases (alcohol group acceptor): protein kinases: protein-tyrosine kinases research

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Functional genomics of Down syndrome: a multidisciplinary approach. Journal Published:

PUBLICATION TYPE: Review

Journal: Journal of neural transmission. Supplementum

VOLUME:

Page Numbers: 131-48

Journal Abbreviation: J. Neural Transm. Suppl.

ISSN: 0303-6995

DAY: 6

MONTH: 05

YEAR: 2001

Functional genomics of Down syndrome: a multidisciplinary approach. Information

Number of References: 97

LANGUAGE: eng

NlmUniqueID: 425126

Functional genomics of Down syndrome: a multidisciplinary approach. Keywords Mesh Terms:

KEYWORDS: Protein-Tyrosine Kinases

MESH TERMS: genetics

Chemical & Substance for Abstract: Functional genomics of Down syndrome: a multidisciplinary approach. Information

Substance Name: BACE1 protein, human

Registry Number: EC 3.4.23.46

Grant and Affiliation Information for Functional genomics of Down syndrome: a multidisciplinary approach.

AFFILIATION: Down Syndrome Research Group, Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona, Spain.

Country: Austria

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MEDLINETA: J Neural Transm Suppl

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