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Items: 1 to 20 of 228

1.

A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart.

Fuentes JJ, Pritchard MA, Planas AM, Bosch A, Ferrer I, Estivill X.

Hum Mol Genet. 1995 Oct;4(10):1935-44.

PMID:
8595418
2.
5.

DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways.

Fuentes JJ, Genescà L, Kingsbury TJ, Cunningham KW, Pérez-Riba M, Estivill X, de la Luna S.

Hum Mol Genet. 2000 Jul 1;9(11):1681-90.

PMID:
10861295
6.

Application of Alu-splice PCR on chromosome 21: DSCR1 and Intersectin.

Fuentes JJ, Dierssen M, Pucharcós C, Fillat C, Casas C, Estivill X, Pritchard M.

J Neural Transm Suppl. 1999;57:337-52. Review.

PMID:
10666688
7.

The murine DSCR1-like (Down syndrome candidate region 1) gene family: conserved synteny with the human orthologous genes.

Strippoli P, Petrini M, Lenzi L, Carinci P, Zannotti M.

Gene. 2000 Oct 31;257(2):223-32.

PMID:
11080588
8.

Isolation of human and murine homologues of the Drosophila minibrain gene: human homologue maps to 21q22.2 in the Down syndrome "critical region".

Song WJ, Sternberg LR, Kasten-Sportès C, Keuren ML, Chung SH, Slack AC, Miller DE, Glover TW, Chiang PW, Lou L, Kurnit DM.

Genomics. 1996 Dec 15;38(3):331-9.

PMID:
8975710
9.

Cloning of a human homolog of the Drosophila minibrain/rat Dyrk gene from "the Down syndrome critical region" of chromosome 21.

Shindoh N, Kudoh J, Maeda H, Yamaki A, Minoshima S, Shimizu Y, Shimizu N.

Biochem Biophys Res Commun. 1996 Aug 5;225(1):92-9.

PMID:
8769099
10.

Alu-splice PCR: a simple method to isolate exon-containing fragments from cloned human genomic DNA.

Fuentes JJ, Pucharcós C, Pritchard M, Estivill X.

Hum Genet. 1997 Dec;101(3):346-50.

PMID:
9439665
11.
13.

Down syndrome-critical region contains a gene homologous to Drosophila sim expressed during rat and human central nervous system development.

Dahmane N, Charron G, Lopes C, Yaspo ML, Maunoury C, Decorte L, Sinet PM, Bloch B, Delabar JM.

Proc Natl Acad Sci U S A. 1995 Sep 26;92(20):9191-5.

14.

Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene.

Egeo A, Mazzocco M, Arrigo P, Vidal-Taboada JM, Oliva R, Pirola B, Giglio S, Rasore-Quartino A, Scartezzini P.

Biochem Biophys Res Commun. 1998 Jun 18;247(2):302-6.

PMID:
9642120
15.

DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system.

Yamakawa K, Huot YK, Haendelt MA, Hubert R, Chen XN, Lyons GE, Korenberg JR.

Hum Mol Genet. 1998 Feb;7(2):227-37.

PMID:
9426258
16.

Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon.

Guipponi M, Scott HS, Chen H, Schebesta A, Rossier C, Antonarakis SE.

Genomics. 1998 Nov 1;53(3):369-76.

PMID:
9799604
17.

A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region.

Guimerá J, Casas C, Pucharcòs C, Solans A, Domènech A, Planas AM, Ashley J, Lovett M, Estivill X, Pritchard MA.

Hum Mol Genet. 1996 Sep;5(9):1305-10.

PMID:
8872470
18.

Altered gene expression in fetal Down syndrome brain as revealed by the gene hunting technique of subtractive hybridization.

Kitzmueller E, Labudova O, Rink H, Cairns N, Lubec G.

J Neural Transm Suppl. 1999;57:99-124.

PMID:
10666671
19.

Chronic overexpression of the calcineurin inhibitory gene DSCR1 (Adapt78) is associated with Alzheimer's disease.

Ermak G, Morgan TE, Davies KJ.

J Biol Chem. 2001 Oct 19;276(42):38787-94. Epub 2001 Aug 1.

20.

The mammalian single-minded (SIM) gene: mouse cDNA structure and diencephalic expression indicate a candidate gene for Down syndrome.

Yamaki A, Noda S, Kudoh J, Shindoh N, Maeda H, Minoshima S, Kawasaki K, Shimizu Y, Shimizu N.

Genomics. 1996 Jul 1;35(1):136-43.

PMID:
8661114

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