Works matching IS 09646906 AND DT 2007 AND VI 16 AND IP 23

Results: 20

Abnormal meiotic recombination in infertile men and its association with sperm aneuploidy.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2870, doi. 10.1093/hmg/ddm246

By:

Ferguson, Kyle A.;
Wong, Edgar Chan;
Chow, Victor;
Nigro, Mark;
Ma, Sai

Publication type:

Article

Neurexin 3 polymorphisms are associated with alcohol dependence and altered expression of specific isoforms.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2880, doi. 10.1093/hmg/ddm247

By:

Hishimoto, Akitoyo;
Liu, Qing-Rong;
Drgon, Tomas;
Pletnikova, Olga;
Walther, Donna;
Zhu, Xu-Guang;
Troncoso, Juan C.;
Uhl, George R.

Publication type:

Article

On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2989, doi. 10.1093/hmg/ddm269

By:

Schröder, Rolf;
Goudeau, Bertrand;
Simon, Monique Casteras;
Fischer, Dirk;
Eggermann, Thomas;
Clemen, Christoph S.;
Li, Zhenlin;
Reimann, Jens;
Xue, Zhigang;
Rudnik-Schöneborn, Sabine;
Zerres, Klaus;
van der Ven, Peter F. M.;
Fürst, Dieter O.;
Kunz, Wolfram S.;
Vicart, Patrick

Publication type:

Article

Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2987, doi. 10.1093/hmg/ddm267

By:

Thierbach, René;
Schulz, Tim J.;
Isken, Frank;
Voigt, Anja;
Mietzner, Brun;
Drewes, Gunnar;
von Kleist-Retzow, Jürgen-Christoph;
Wiesner, Rudolf J.;
Magnuson, Mark A.;
Puccio, Hélène;
Pfeiffer, Andreas F.H.;
Steinberg, Pablo;
Ristow, Michael

Publication type:

Article

The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2892, doi. 10.1093/hmg/ddm248

By:

Martin, Melinda S.;
Tang, Bin;
Papale, Ligia A.;
Yu, Frank H.;
Catterall, William A.;
Escayg, Andrew

Publication type:

Article

Paraquat induces dopaminergic dysfunction and proteasome impairment in DJ-1-deficient mice.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2900, doi. 10.1093/hmg/ddm249

By:

Yang, Wonsuk;
Chen, Linan;
Ding, Yunmin;
Zhuang, Xiaoxi;
Kang, Un Jung

Publication type:

Article

Genetic association of CTNNA3 with late-onset Alzheimer's disease in females.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2854

By:

Miyashita, Akinori;
Arai, Hiroyuki;
Asada, Takashi;
Imagawa, Masaki;
Matsubara, Etsuro;
Shoji, Mikio;
Higuchi, Susumu;
Urakami, Katsuya;
Kakita, Akiyoshi;
Takahashi, Hitoshi;
Toyabe, Shinichi;
Akazawa, Kohei;
Kanazawa, Ichiro;
Ihara, Yasuo;
Kuwano, Ryozo

Publication type:

Article

Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2783, doi. 10.1093/hmg/ddm208

By:

de Smith, Adam J.;
Tsalenko, Anya;
Sampas, Nick;
Scheffer, Alicia;
Yamada, N. Alice;
Tsang, Peter;
Ben-Dor, Amir;
Yakhini, Zohar;
Ellis, Richard J.;
Bruhn, Laurakay;
Laderman, Stephen;
Froguel, Philippe;
Blakemore, Alexandra I.F.

Publication type:

Article

Reduced life span with heart and muscle dysfunction in Drosophila sarcoglycan mutants.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2933, doi. 10.1093/hmg/ddm254

By:

Allikian, Michael J.;
Bhabha, Gira;
Dospoy, Patrick;
Heydemann, Ahlke;
Ryder, Pearl;
Earley, Judy U.;
Wolf, Matthew J.;
Rockman, Howard A.;
McNally, Elizabeth M.

Publication type:

Article

Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2834, doi. 10.1093/hmg/ddm239

By:

Hino, Shin-ichiro;
Kondo, Shinichi;
Sekiya, Hiroshi;
Saito, Atsushi;
Kanemoto, Soshi;
Murakami, Tomohiko;
Chihara, Kazuyasu;
Aoki, Yuri;
Nakamori, Masayuki;
Takahashi, Masanori P.;
Imaizumi, Kazunori

Publication type:

Article

Adipose tissue mass is modulated by SLUG (SNAI2).

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2972, doi. 10.1093/hmg/ddm278

By:

Pérez-Mancera, Pedro Antonio;
Bermejo-Rodríguez, Camino;
González-Herrero, Inés;
Herranz, Michel;
Flores, Teresa;
Jiménez, Rafael;
Sánchez-García, Isidro

Publication type:

Article

Association of haplotypic variants in DRD2, ANKK1, TTC12 and NCAM1 to alcohol dependence in independent case–control and family samples.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2844, doi. 10.1093/hmg/ddm240

By:

Yang, Bao-Zhu;
Kranzler, Henry R.;
Zhao, Hongyu;
Gruen, Jeffrey R.;
Luo, Xingguang;
Gelernter, Joel

Publication type:

Article

Distal axonopathy in an alsin-deficient mouse model†.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2911, doi. 10.1093/hmg/ddm251

By:

Deng, Han-Xiang;
Zhai, Hong;
Fu, Ronggen;
Shi, Yong;
Gorrie, George H.;
Yang, Yi;
Liu, Erdong;
Dal Canto, Mauro C.;
Mugnaini, Enrico;
Siddique, Teepu

Publication type:

Article

Common genetic variation in calpain-10 gene (CAPN10) and diabetes risk in a multi-ethnic cohort of American postmenopausal women.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2960, doi. 10.1093/hmg/ddm256

By:

Song, Yiqing;
You, Nai-chieh;
Hsu, Yi-Hsiang;
Sul, James;
Wang, Lin;
Tinker, Lesley;
Eaton, Charles B.;
Liu, Simin

Publication type:

Article

Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2944, doi. 10.1093/hmg/ddm255

By:

Kandert, Sebastian;
Lüke, Yvonne;
Kleinhenz, Tobias;
Neumann, Sascha;
Lu, Wenshu;
Jaeger, Verena M.;
Munck, Martina;
Wehnert, Manfred;
Müller, Clemens R.;
Zhou, Zhongjun;
Noegel, Angelika A.;
Dabauvalle, Marie-Christine;
Karakesisoglou, Iakowos

Publication type:

Article

Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2988, doi. 10.1093/hmg/ddm268

By:

Beaumont, Kimberley A.;
Shekar, Sri N.;
Newton, Richard A.;
James, Michael R.;
Stow, Jennifer L.;
Duffy, David L.;
Sturm, Richard A.

Publication type:

Article

Identification of TRAF6-dependent NEMO polyubiquitination sites through analysis of a new NEMO mutation causing incontinentia pigmenti.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2805, doi. 10.1093/hmg/ddm237

By:

Sebban-Benin, Hélène;
Pescatore, Alessandra;
Fusco, Francesca;
Pascuale, Valérie;
Gautheron, Jérémie;
Yamaoka, Shoji;
Moncla, Anne;
Ursini, Matilde Valeria;
Courtois, Gilles

Publication type:

Article

Nesprin-1 and -2 are involved in the pathogenesis of Emery–Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2816, doi. 10.1093/hmg/ddm238

By:

Zhang, Qiuping;
Bethmann, Cornelia;
Worth, Nathalie F.;
Davies, John D.;
Wasner, Christina;
Feuer, Anja;
Ragnauth, Cassandra D.;
Yi, Qijian;
Mellad, Jason A.;
Warren, Derek T.;
Wheeler, Matthew A.;
Ellis, Juliet A.;
Skepper, Jeremy N.;
Vorgerd, Matthias;
Schlotter-Weigel, Beate;
Weissberg, Peter L.;
Roberts, Roland G.;
Wehnert, Manfred;
Shanahan, Catherine M.

Publication type:

Article

Loss of Wnt4 and Foxl2 leads to female-to-male sex reversal extending to germ cells.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2795, doi. 10.1093/hmg/ddm235

By:

Ottolenghi, Chris;
Pelosi, Emanuele;
Tran, Joseph;
Colombino, Maria;
Douglass, Eric;
Nedorezov, Timur;
Cao, Antonio;
Forabosco, Antonino;
Schlessinger, David

Publication type:

Article

α7 nicotinic acetylcholine receptor mRNA expression and binding in postmortem human brain are associated with genetic variation in neuregulin 1.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 23, p. 2921, doi. 10.1093/hmg/ddm253

By:

Mathew, Shiny V.;
Law, Amanda J.;
Lipska, Barbara K.;
Dávila-García, Martha I.;
Zamora, Eduardo D.;
Mitkus, Shruti N.;
Vakkalanka, Radhakrishna;
Straub, Richard E.;
Weinberger, Daniel R.;
Kleinman, Joel E.;
Hyde, Thomas M.

Publication type:

Article