Dscr8
Mostrando 1-4 de 4 artigos, teses e dissertações.
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1. Expressão heteróloga, purificação e caracterização das proteínas humanas DCRA (Down Syndrome Critical Region Gene A) e DSCR8 (Down Syndrome Critical Region Gene 8).
Down syndrome is the most frequent cause of mental retardation affecting millions of people worldwide and results from full or partial trisomy of chromosome 21 (HC21). Rare cases of partial trisomy allowed the identification of a small region in HC21 common to all carriers called Down Syndrome Critical Region. The genes DCRA and DSCR8, mapped to this region,
Publicado em: 2004
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2. Localização subcelular da DSCR2, uma proteína relacionada à síndrome de Down.
Down Syndrome (DS) is the major cause of mental retardation with a high incidence among human beings. Main features in DS include facial and dermatological features, congenital heart defects as well as immunological, gastrointestinal and endocrine abnormalities. Among a variety of cancer, a 20 fold increased risk of developing leukemia in younger people and
Publicado em: 2003
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3. Comparative Genomic Sequence Analysis of the Human Chromosome 21 Down Syndrome Critical Region
Comprehensive knowledge of the gene content of human chromosome 21 (HSA21) is essential for understanding the etiology of Down syndrome (DS). Here we report the largest comparison of finished mouse and human sequence to date for a 1.35-Mb region of mouse chromosome 16 (MMU16) that corresponds to human chromosome 21q22.2. This includes a portion of the common
Cold Spring Harbor Laboratory Press.
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4. Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region
A 4.3 Mb duplication of chromosome 21 bands q22.13–q22.2 was diagnosed by interphase fluorescent in‐situ hybridisation (FISH) in a 31‐week gestational age baby with cystic hygroma and hydrops; the duplication was later found in the mother and in her 8‐year‐old daughter by the same method and confirmed by array comparative genomic hybridisation (a
BMJ Group.