Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 18

Results: 20

Nonfibrillar diffuse amyloid deposition due to a γ [sub 42] -secretase site mutation points to an essential role for N-truncated A β [sub 42] in Alzheimer's disease.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2589, doi. 10.1093/hmg/9.18.2589

By:

Kumar-Singh, Samir

Publication type:

Article

Replication protein A1 reduces transcription of the endothelial nitric oxide synthase gene containing a -786T →C mutation associated with coronary spastic angina.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2629, doi. 10.1093/hmg/9.18.2629

By:

Miyamoto, Yoshihiro

Publication type:

Article

Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2715, doi. 10.1093/hmg/9.18.2715

By:

Bonten, Erik. J.;
Arts, Willem F.;
Beck, Michael;
Covanis, A.;
Donati, Maria A.;
Parini, Rossella;
Zammarchi, Enrico;
d’Azzo, Alessandra

Publication type:

Article

Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprinting.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2691, doi. 10.1093/hmg/9.18.2691

By:

Engemann, Sabine

Publication type:

Article

The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2665, doi. 10.1093/hmg/9.18.2665

By:

Winter, Johan P.

Publication type:

Article

A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2617, doi. 10.1093/hmg/9.18.2617

By:

Pritchard, Lynn

Publication type:

Article

Expression of mutant α -synuclein causes increased susceptibility to dopamine toxicity.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2683, doi. 10.1093/hmg/9.18.2683

By:

Tabrizi, Sarah J.

Publication type:

Article

Integrated analysis of sequence evolution and population history using hypervariable compound haplotypes.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2675, doi. 10.1093/hmg/9.18.2675

By:

Rogers, Emma J.

Publication type:

Article

Polycystin-1, the product of the polycystic kidney disease 1 gene, co-localizes with desmosomes in MDCK cells.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2743, doi. 10.1093/hmg/9.18.2743

By:

Scheffers, Martijn S.

Publication type:

Article

A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2733, doi. 10.1093/hmg/9.18.2733

By:

Tiranti, Valeria

Publication type:

Article

TRF1 is a critical trans -acting factor required for de novo telomere formation in human cells.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2639, doi. 10.1093/hmg/9.18.2639

By:

Okabe, Jun

Publication type:

Article

Large-scale methylation analysis of human genomic DNA reveals tissue-specific differences between the methylation profiles of genes and pseudogenes.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2651, doi. 10.1093/hmg/9.18.2651

By:

Grunau, Christoph

Publication type:

Article

Surfactant proteins A and B as interactive genetic determinants of neonatal respiratory distress syndrome.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2751, doi. 10.1093/hmg/9.18.2751

By:

Haataja, Ritva;
Rämet, Mika;
Marttila, Riitta;
Hallman, Mikko

Publication type:

Article

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2761, doi. 10.1093/hmg/9.18.2761

By:

Norgett, Elizabeth E.

Publication type:

Article

Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2727, doi. 10.1093/hmg/9.18.2727

By:

Kurahashi, Hiroki;
Shaikh, Tamim H.;
Emanuel, Beverly S.

Publication type:

Article

Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2575, doi. 10.1093/hmg/9.18.2575

By:

Hansen, R. Scott

Publication type:

Article

Sequence interruptions confer differential stability at microsatellite alleles in mismatch repair-deficient cells.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2707, doi. 10.1093/hmg/9.18.2707

By:

Bacon, Andrea L.

Publication type:

Article

Co-expression of mutated and normal adrenoleukodystrophy protein reduces protein function: implications for gene therapy of X-linked adrenoleukodystrophy.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2609, doi. 10.1093/hmg/9.18.2609

By:

Unterrainer, Gertraud

Publication type:

Article

An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2599, doi. 10.1093/hmg/9.18.2599

By:

Monnier, Nicole

Publication type:

Article

Gender of the embryo contributes to CAG instability in transgenic mice containing a Huntington's disease gene.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 18, p. 2767, doi. 10.1093/hmg/9.18.2767

By:

Kovtun, Irina V.;
Therneau, Terrence M.;
McMurray, Cynthia T.

Publication type:

Article