Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 13

Results: 22

High mitochondrial DNA copy number has detrimental effects in mice.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 13, p. 2695, doi. 10.1093/hmg/ddq163

By:

Ylikallio, Emil;
Tyynismaa, Henna;
Tsutsui, Hiroyuki;
Ide, Tomomi;
Suomalainen, Anu

Publication type:

Article

Genome-wide association study of circulating vitamin D levels.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 13, p. 2739, doi. 10.1093/hmg/ddq155

By:

Ahn, Jiyoung;
Yu, Kai;
Stolzenberg-Solomon, Rachael;
Simon, K. Claire;
McCullough, Marjorie L.;
Gallicchio, Lisa;
Jacobs, Eric J.;
Ascherio, Alberto;
Helzlsouer, Kathy;
Jacobs, Kevin B.;
Li, Qizhai;
Weinstein, Stephanie J.;
Purdue, Mark;
Virtamo, Jarmo;
Horst, Ronald;
Wheeler, William;
Chanock, Stephen;
Hunter, David J.;
Hayes, Richard B.;
Kraft, Peter

Publication type:

Article

Genetic regulation of catecholamine synthesis, storage and secretion in the spontaneously hypertensive rat.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 13, p. 2567, doi. 10.1093/hmg/ddq135

By:

Jirout, M.L.;
Friese, R.S.;
Mahapatra, N.R.;
Mahata, M.;
Taupenot, L.;
Mahata, S.K.;
Křen, V.;
Zídek, V.;
Fischer, J.;
Maatz, H.;
Ziegler, M.G.;
Pravenec, M.;
Hubner, N.;
Aitman, T.J.;
Schork, N.J.;
O'Connor, D.T.

Publication type:

Article

Genome-wide association of anthropometric traits in African- and African-derived populations.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 13, p. 2725, doi. 10.1093/hmg/ddq154

By:

Kang, Sun J.;
Chiang, Charleston W.K.;
Palmer, Cameron D.;
Tayo, Bamidele O.;
Lettre, Guillaume;
Butler, Johannah L.;
Hackett, Rachel;
Adeyemo, Adebowale A.;
Guiducci, Candace;
Berzins, Ilze;
Nguyen, Thutrang T.;
Feng, Tao;
Luke, Amy;
Shriner, Daniel;
Ardlie, Kristin;
Rotimi, Charles;
Wilks, Rainford;
Forrester, Terrence;
McKenzie, Colin A.;
Lyon, Helen N.

Publication type:

Article

An accumulation of non-farnesylated prelamin A causes cardiomyopathy but not progeria.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 13, p. 2682, doi. 10.1093/hmg/ddq158

By:

Davies, Brandon S.J.;
Barnes, Richard H.;
Tu, Yiping;
Ren, Shuxun;
Andres, Douglas A.;
Spielmann, H. Peter;
Lammerding, Jan;
Wang, Yibin;
Young, Stephen G.;
Fong, Loren G.

Publication type:

Article

Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 13, p. 2716, doi. 10.1093/hmg/ddq144

By:

Macgregor, Stuart;
Hewitt, Alex W.;
Hysi, Pirro G.;
Ruddle, Jonathan B.;
Medland, Sarah E.;
Henders, Anjali K.;
Gordon, Scott D.;
Andrew, Toby;
McEvoy, Brian;
Sanfilippo, Paul G.;
Carbonaro, Francis;
Tah, Vikas;
Li, Yi Ju;
Bennett, Sonya L.;
Craig, Jamie E.;
Montgomery, Grant W.;
Tran-Viet, Khanh-Nhat;
Brown, Nadean L.;
Spector, Timothy D.;
Martin, Nicholas G.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 13, p. NP, doi. 10.1093/hmg/ddq219
Publication type:: Article

ICI 182,780 induces P-cadherin overexpression in breast cancer cells through chromatin remodelling at the promoter level: a role for C/EBPβ in CDH3 gene activation.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 13, p. 2554, doi. 10.1093/hmg/ddq134

By:

Albergaria, André;
Ribeiro, Ana Sofia;
Pinho, Sandra;
Milanezi, Fernanda;
Carneiro, Vítor;
Sousa, Bárbara;
Sousa, Sónia;
Oliveira, Carla;
Machado, José Carlos;
Seruca, Raquel;
Paredes, Joana;
Schmitt, Fernando

Publication type:

Article

Gene therapy rescues cone function in congenital achromatopsia.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 13, p. 2581

By:

Komáromy, András M.;
Alexander, John J.;
Rowlan, Jessica S.;
Garcia, Monique M.;
Chiodo, Vince A.;
Kaya, Asli;
Tanaka, Jacqueline C.;
Acland, Gregory M.;
Hauswirth, William W.;
Aguirre, Gustavo D.

Publication type:

Article

The nucleotide composition of microsatellites impacts both replication fidelity and mismatch repair in human colorectal cells.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 13, p. 2648, doi. 10.1093/hmg/ddq175

By:

Campregher, Christoph;
Scharl, Theresa;
Nemeth, Manuela;
Honeder, Clemens;
Jascur, Thomas;
Boland, C. Richard;
Gasche, Christoph

Publication type:

Article

Visualizing Chromosome Mosaicism and Detecting Ethnic Outliers by the Method of “Rare” Heterozygotes and Homozygotes (RHH).

Published in:

Human Molecular Genetics, 2010, v. 19, n. 13, p. 2539, doi. 10.1093/hmg/ddq102

By:

McGinnis, Ralph E.;
Deloukas, Panos;
McLaren, William M.;
Inouye, Michael

Publication type:

Article

Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm†.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 13, p. 2630, doi. 10.1093/hmg/ddq150

By:

Tong, Maoqing;
Kato, Takema;
Yamada, Kouji;
Inagaki, Hidehito;
Kogo, Hiroshi;
Ohye, Tamae;
Tsutsumi, Makiko;
Wang, Jieru;
Emanuel, Beverly S.;
Kurahashi, Hiroki

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 13, p. NP, doi. 10.1093/hmg/ddq218
Publication type:: Article

The STOX1 genotype associated with pre-eclampsia leads to a reduction of trophoblast invasion by α-T-catenin upregulation.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 13, p. 2658, doi. 10.1093/hmg/ddq152

By:

van Dijk, Marie;
van Bezu, Jan;
van Abel, Daan;
Dunk, Caroline;
Blankenstein, Marinus A.;
Oudejans, Cees B.M.;
Lye, Stephen J.

Publication type:

Article

Reversal of neuropathy phenotypes in conditional mouse model of Charcot–Marie–Tooth disease type 2E.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 13, p. 2616, doi. 10.1093/hmg/ddq149

By:

Dequen, Florence;
Filali, Mohammed;
Larivière, Roxanne C.;
Perrot, Rodolphe;
Hisanaga, Shin-Ichi;
Julien, Jean-Pierre

Publication type:

Article

Zebrafish MTMR14 is required for excitation–contraction coupling, developmental motor function and the regulation of autophagy.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 13, p. 2668, doi. 10.1093/hmg/ddq153

By:

Dowling, J.J.;
Low, S.E.;
Busta, A.S.;
Feldman, E.L.

Publication type:

Article

Both microsatellite length and sequence context determine frameshift mutation rates in defective DNA mismatch repair.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 13, p. 2638, doi. 10.1093/hmg/ddq151

By:

Chung, Heekyung;
Lopez, Claudia G.;
Holmstrom, Joy;
Young, Dennis J.;
Lai, Jenny F.;
Ream-Robinson, Deena;
Carethers, John M.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 13, p. NP, doi. 10.1093/hmg/ddq217
Publication type:: Article

Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 13, p. 2606, doi. 10.1093/hmg/ddq146

By:

Chi, Zai-Long;
Akahori, Masakazu;
Obazawa, Minoru;
Minami, Masayoshi;
Noda, Toru;
Nakaya, Naoki;
Tomarev, Stanislav;
Kawase, Kazuhide;
Yamamoto, Tetsuya;
Noda, Setsuko;
Sasaoka, Masaki;
Shimazaki, Atsushi;
Takada, Yuichiro;
Iwata, Takeshi

Publication type:

Article

Interleukin-1 alpha blockade prevents hyperkeratosis in an in vitro model of lamellar ichthyosis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 13, p. 2594, doi. 10.1093/hmg/ddq145

By:

O'Shaughnessy, Ryan F.L.;
Choudhary, Ishaan;
Harper, John I.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 13, p. NP, doi. 10.1093/hmg/ddq220
Publication type:: Article

Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 13, p. 2706, doi. 10.1093/hmg/ddq156

By:

Qi, Lu;
Cornelis, Marilyn C.;
Kraft, Peter;
Stanya, Kristopher J.;
Linda Kao, W.H.;
Pankow, James S.;
Dupuis, Josée;
Florez, Jose C.;
Fox, Caroline S.;
Paré, Guillaume;
Sun, Qi;
Girman, Cynthia J.;
Laurie, Cathy C.;
Mirel, Daniel B.;
Manolio, Teri A.;
Chasman, Daniel I.;
Boerwinkle, Eric;
Ridker, Paul M.;
Hunter, David J.;
Meigs, James B.

Publication type:

Article