Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 5

Results: 13

Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 5, p. 433, doi. 10.1093/hmg/10.5.433

By:

Chen, Zhoutao;
Karaplis, Andrew C.;
Ackerman, Susan L.;
Pogribny, Igor P.;
Melnyk, Stepan;
Lussier-Cacan, Suzanne;
Chen, Moy Fong;
Pai, Aditya;
John, Simon W.M.;
Smith, Richard S.;
Bottiglieri, Teodoro;
Bagley, Pamela;
Selhub, Jacob;
Rudnicki, Michael A.;
James, S. Jill;
Rozen, Rima

Publication type:

Article

A Ser[sup 365] → Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 5, p. 457, doi. 10.1093/hmg/10.5.457

By:

Chen, Lin;
Li, Cuiling;
Qiao, Wenhui;
Xu, Xiaoling;
Deng, Chuxia

Publication type:

Article

Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 5, p. 485, doi. 10.1093/hmg/10.5.485

By:

Estrada, Lourdes;
Caron, Emmanuelle;
Gorski, Jerome L.

Publication type:

Article

WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 5, p. 477, doi. 10.1093/hmg/10.5.477

By:

Takeda, Koumei

Publication type:

Article

Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 5, p. 467, doi. 10.1093/hmg/10.5.467

By:

Bliek, Jet;
Maas, Saskia M.;
Ruijter, Jan M.;
Hennekam, Raoul C.M.;
Alders, Marielle;
Westerveld, Andries;
Mannens, Marcel M.A.M.

Publication type:

Article

A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 5, p. 529, doi. 10.1093/hmg/10.5.529

By:

Petruzzella, Vittoria;
Vergari, Rosaria;
Puzziferri, Irene;
Boffoli, Domenico;
Lamantea, Eleonora;
Zeviani, Massimo;
Papa, Sergio

Publication type:

Article

Evolution of instability at coding and non-coding repeat sequences in human MSI-H colorectal cancers.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 5, p. 513, doi. 10.1093/hmg/10.5.513

By:

Duval, Alex;
Rolland, Sandra;
Compoint, Aurore;
Tubacher, Emmanuel;
Iacopetta, Barry;
Thomas, Gilles;
Hamelin, Richard

Publication type:

Article

Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST).

Published in:

Human Molecular Genetics, 2001, v. 10, n. 5, p. 537, doi. 10.1093/hmg/10.5.537

By:

Balemans, Wendy;
Ebeling, Martin;
Patel, Neela;
Van Hul, Els;
Olson, Pam;
Dioszegi, Marianna;
Lacza, Charlemagne;
Wuyts, Wim;
Van Den Ende, Jenneke;
Willems, Patrick;
Paes-Alves, Auristela F.;
Hill, Suvimol;
Bueno, Manuel;
Ramos, Feliciano J.;
Tacconi, Paolo;
Dikkers, Frederik G.;
Stratakis, Constantine;
Lindpaintner, Klaus;
Vickery, Brian;
Foernzler, Dorothee

Publication type:

Article

Ulcerative colitis and Crohn's disease: distinctive gene expression profiles and novel susceptibility candidate genes.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 5, p. 445, doi. 10.1093/hmg/10.5.445

By:

Lawrance, Ian C.;
Fiocchi, Claudio;
Chakravarti, Shukti

Publication type:

Article

The genome-wide distribution of background linkage disequilibrium in a population isolate.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 5, p. 545, doi. 10.1093/hmg/10.5.545

By:

Service, Susan K.

Publication type:

Article

Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 5, p. 497, doi. 10.1093/hmg/10.5.497

By:

Jablonka, Sibylle

Publication type:

Article

Extra-chromosomal telomeric DNA in cells from Atm [sup -/-] mice and patients with ataxia-telangiectasia.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 5, p. 519, doi. 10.1093/hmg/10.5.519

By:

Hande, M. Prakash

Publication type:

Article

The mouse slalom mutant demonstrates a role for Jagged1 in neuroepithelial patterning in the organ of Corti.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 5, p. 507, doi. 10.1093/hmg/10.5.507

By:

Tsai, Hsun

Publication type:

Article