Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 21

Results: 14

Isolation and characterization of the Drosophila ubiquilin ortholog dUbqln: in vivo interaction with early-onset Alzheimer disease genes.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 21, p. 2626

By:

Li, Airong;
Xie, Zhongcong;
Dong, Yuanlin;
McKay, Kenneth M.;
McKee, Mary L.;
Tanzi, Rudolph E.

Publication type:

Article

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn−/− mice and results in a mouse with spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 21, p. 2648, doi. 10.1093/hmg/ddm236

By:

Monani, Umrao R.;
Sendtner, Michael;
Coovert, Daniel D.;
Parsons, D. William;
Andreassi, Catia;
Le, Thanh T.;
Jablonka, Sibylle;
Schrank, Berthold;
Rossoll, Wilfried;
Prior, Thomas W.;
Morris, Glenn E.;
Burghes, Arthur H.M.

Publication type:

Article

Gene expression fingerprinting for human hereditary hemorrhagic telangiectasia.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 21, p. 2649, doi. 10.1093/hmg/ddm250

By:

Fernandez-L, Africa;
Garrido-Martin, Eva M.;
Sanz-Rodriguez, Francisco;
Pericacho, Miguel;
Rodriguez-Barbero, Alicia;
Eleno, Nelida;
Lopez-Novoa, Jose M.;
Düwell, Anette;
Vega, Miguel A.;
Bernabeu, Carmelo;
Botella, Luisa M.

Publication type:

Article

A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 21, p. 2647, doi. 10.1093/hmg/ddm231

By:

Malicdan, May Christine V.;
Noguchi, Satoru;
Nonaka, Ikuya;
Hayashi, Yukiko K.;
Nishino, Ichizo

Publication type:

Article

Huntingtin has a membrane association signal that can modulate huntingtin aggregation, nuclear entry and toxicity.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 21, p. 2600, doi. 10.1093/hmg/ddm217

By:

Atwal, Randy Singh;
Xia, Jianrun;
Pinchev, Deborah;
Taylor, Jillian;
Epand, Richard M.;
Truant, Ray

Publication type:

Article

Association analysis of functional variants of the FcgRIIa and FcgRIIIa genes with type 1 diabetes, celiac disease and rheumatoid arthritis.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 21, p. 2552, doi. 10.1093/hmg/ddm194

By:

Alizadeh, Behrooz Z.;
Valdigem, Gustavo;
Coenen, Marieke J.H.;
Zhernakova, Alexandra;
Franke, Barbara;
Monsuur, Alienke;
van Riel, Piet L.C.M.;
Barrera, Pilar;
Radstake, Timothy R.D.J.;
Roep, Bart O.;
Wijmenga, Cisca;
Koeleman, Bobby P.C.

Publication type:

Article

Regional rearrangements in chromosome 15q21 cause formation of cryptic promoters for the CYP19 (aromatase) gene.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 21, p. 2529, doi. 10.1093/hmg/ddm145

By:

Demura, Masashi;
Martin, Regina M.;
Shozu, Makio;
Sebastian, Siby;
Takayama, Kazuto;
Hsu, Wei-Tong;
Schultz, Roger A.;
Neely, Kirk;
Bryant, Michael;
Mendonca, Berenice B.;
Hanaki, Keiichi;
Kanzaki, Susumu;
Rhoads, David B.;
Misra, Madhusmita;
Bulun, Serdar E.

Publication type:

Article

Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 21, p. 2572, doi. 10.1093/hmg/ddm209

By:

Bosch, Nina;
Cáceres, Mario;
Cardone, Maria Francesca;
Carreras, Anna;
Ballana, Ester;
Rocchi, Mariano;
Armengol, Lluís;
Estivill, Xavier

Publication type:

Article

Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 21, p. 2591, doi. 10.1093/hmg/ddm216

By:

Ruf, Nico;
Bähring, Sylvia;
Galetzka, Danuta;
Pliushch, Galyna;
Luft, Friedrich C.;
Nürnberg, Peter;
Haaf, Thomas;
Kelsey, Gavin;
Zechner, Ulrich

Publication type:

Article

Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 21, p. 2560, doi. 10.1093/hmg/ddm197

By:

Babcock, Melanie;
Yatsenko, Svetlana;
Hopkins, Janet;
Brenton, Matthew;
Cao, Qing;
de Jong, Pieter;
Stankiewicz, Pawel;
Lupski, James R.;
Sikela, James M;
Morrow, Bernice E.

Publication type:

Article

Aberrant DNA methylation of imprinted loci in sperm from oligospermic patients.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 21, p. 2542, doi. 10.1093/hmg/ddm187

By:

Kobayashi, Hisato;
Sato, Akiko;
Otsu, Eiko;
Hiura, Hitoshi;
Tomatsu, Chisako;
Utsunomiya, Takafumi;
Sasaki, Hiroyuki;
Yaegashi, Nobuo;
Arima, Takahiro

Publication type:

Article

Restoration of the balanced α/β-globin gene expression in β654-thalassemia mice using combined RNAi and antisense RNA approach.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 21, p. 2616, doi. 10.1093/hmg/ddm218

By:

Xie, Shu-Yang;
Ren, Zhao-Rui;
Zhang, Jing-Zhi;
Guo, Xin-Bin;
Wang, Qing-Xue;
Wang, Shu;
Lin, Dan;
Gong, Xiu-Li;
Li, Wei;
Huang, Shu-Zhen;
Zeng, Fanyi;
Zeng, Yi-Tao

Publication type:

Article

Increased expression of Grainyhead-like-3 rescues spina bifida in a folate-resistant mouse model.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 21, p. 2640, doi. 10.1093/hmg/ddm221

By:

Gustavsson, Peter;
Greene, Nicholas D.E.;
Lad, Dina;
Pauws, Erwin;
de Castro, Sandra C.P.;
Stanier, Philip;
Copp, Andrew J.

Publication type:

Article

Lymphotoxin-β regulates periderm differentiation during embryonic skin development.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 21, p. 2583, doi. 10.1093/hmg/ddm210

By:

Cui, Chang-Yi;
Kunisada, Makoto;
Esibizione, Diana;
Grivennikov, Sergei I.;
Piao, Yulan;
Nedospasov, Sergei A.;
Schlessinger, David

Publication type:

Article