Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 6

Results: 22

Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 573, doi. 10.1093/hmg/10.6.573

By:

Guan, Min-Xin;
Fischel-Ghodsian, Nathan;
Attardi, Giuseppe

Publication type:

Article

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith–Lemli–Opitz syndrome.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 555, doi. 10.1093/hmg/10.6.555

By:

Wassif, Christopher A.;
Zhu, Pinjun;
Kratz, Lisa;
Krakowiak, Patrycja A.;
Battaile, Kevin P.;
Weight, Forrest F.;
Grinberg, Alexander;
Steiner, Robert D.;
Nwokoro, Ngozi A.;
Kelley, Richard I.;
Stewart, Randall R.;
Porter, Forbes D.

Publication type:

Article

WBSCR14, a gene mapping to the Williams–Beuren syndrome deleted region, is a new member of the Mlx transcription factor network.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 617, doi. 10.1093/hmg/10.6.617

By:

Cairo, Stefano;
Merla, Giuseppe;
Urbinati, Fabrizia;
Ballabio, Andrea;
Reymond, Alexandre

Publication type:

Article

Prediction of deleterious human alleles.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 591, doi. 10.1093/hmg/10.6.591

By:

Sunyaev, Shamil;
Ramensky, Vasily;
Koch, Ina;
Lathe III, Warren;
Kondrashov, Alexey S.;
Bork, Peer

Publication type:

Article

Primary non-random X inactivation associated with disruption of Xist promoter regulation.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 581, doi. 10.1093/hmg/10.6.581

By:

Newall, Alistair E. T.;
Duthie, Sarah;
Formstone, Emma;
Nesterova, Tatyana;
Alexiou, Maria;
Johnston, Colette;
Caparros, Marie-Laure;
Brockdorff, Neil

Publication type:

Article

Rats made congenic for Oia3 on chromosome 10 become susceptible to squalene-induced arthritis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 565, doi. 10.1093/hmg/10.6.565

By:

Holm, Barbro C.;
Xu, HongWei;
Jacobsson, Lena;
Larsson, Anders;
Luthman, Holger;
Lorentzen, Johnny C.

Publication type:

Article

Mutations in the regulatory domain of cystathionine β–synthase can functionally suppress patient-derived mutations in cis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 635, doi. 10.1093/hmg/10.6.635

By:

Shan, Xiaoyin;
Dunbrack Jr., Roland L.;
Christopher, Scott A.;
Kruger, Warren D.

Publication type:

Article

Mutation rates at two human Y-chromosomal microsatellite loci using small pool PCR techniques.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 629, doi. 10.1093/hmg/10.6.629

By:

Holtkemper, Ulrike;
Rolf, Burkhard;
Hohoff, Carsten;
Forster, Peter;
Brinkmann, Bernd

Publication type:

Article

PTEN inhibits insulin-stimulated MEK/MAPK activation and cell growth by blocking IRS-1 phosphorylation and IRS-1/Grb-2/Sos complex formation in a breast cancer model.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 605, doi. 10.1093/hmg/10.6.605

By:

Weng, Liang-Ping;
Smith, Wendy M.;
Brown, Jessica L.;
Eng, Charis

Publication type:

Article

Association of acetylated histones with paternally expressed genes in the Prader–Willi deletion region.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 645, doi. 10.1093/hmg/10.6.645

By:

Fulmer-Smentek, Stephanie B.;
Francke, Uta

Publication type:

Article

PTEN coordinates G1 arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 599, doi. 10.1093/hmg/10.6.599

By:

Weng, Liang-Ping;
Brown, Jessica L.;
Eng, Charis

Publication type:

Article

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 555, doi. 10.1093/hmg/10.6.555

By:

Wassif, Christopher A.;
Zhu, Pinjun;
Kratz, Lisa;
Krakowiak, Patrycja A.;
Battaile, Kevin P.;
Weight, Forrest F.;
Grinberg, Alexander;
Steiner, Robert D.;
Nwokoro, Ngozi A.;
Kelley, Richard I.;
Stewart, Randall R.;
Porter, Forbes D.

Publication type:

Article

Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 573, doi. 10.1093/hmg/10.6.573

By:

Guan, Min-Xin

Publication type:

Article

Prediction of deleterious human alleles.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 591, doi. 10.1093/hmg/10.6.591

By:

Sunyaev, Shamil;
Ramensky, Vasily;
Koch, Ina;
Lathe, III, Warren;
Kondrashov, Alexey S.;
Bork, Peer

Publication type:

Article

WBSCR14, a gene mapping to the Williams-Beuren syndrome deleted region, is a new member of the Mlx transcription factor network.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 617, doi. 10.1093/hmg/10.6.617

By:

Cairo, Stefano

Publication type:

Article

Primary non-random X inactivation associated with disruption of Xist promoter regulation.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 581, doi. 10.1093/hmg/10.6.581

By:

Newall, Alistair E. T.;
Duthie, Sarah;
Formstone, Emma;
Nesterova, Tatyana;
Alexiou, Maria;
Johnston, Colette;
Caparros, Marie-Laure;
Brockdorff, Neil

Publication type:

Article

Mutations in the regulatory domain of cystathionine β-synthase can functionally suppress patient-derived mutations in cis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 635, doi. 10.1093/hmg/10.6.635

By:

Shan, Xiaoyin;
Dunbrack, Jr., Roland L.;
Christopher, Scott A.;
Kruger, Warren D.

Publication type:

Article

Mutation rates at two human Y-chromosomal microsatellite loci using small pool PCR techniques.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 629, doi. 10.1093/hmg/10.6.629

By:

Holtkemper, Ulrike

Publication type:

Article

Rats made congenic for Oia3 on chromosome 10 become susceptible to squalene-induced arthritis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 565, doi. 10.1093/hmg/10.6.565

By:

Holm, Barbro C.

Publication type:

Article

PTEN inhibits insulin-stimulated MEK/MAPK activation and cell growth by blocking IRS-1 phosphorylation and IRS-1/Grb-2/Sos complex formation in a breast cancer model.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 605, doi. 10.1093/hmg/10.6.605

By:

Weng, Liang-Ping;
Smith, Wendy M.;
Brown, Jessica L.;
Eng, Charis

Publication type:

Article

PTEN coordinates G[sub 1] arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 599, doi. 10.1093/hmg/10.6.599

By:

Weng, Liang-Ping;
Brown, Jessica;
Eng, Charis

Publication type:

Article

Association of acetylated histones with paternally expressed genes in the Prader-Willi deletion region.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 6, p. 645, doi. 10.1093/hmg/10.6.645

By:

Fulmer-Smentek, Stephanie

Publication type:

Article