Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 21

Results: 14

Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 21, p. 2733, doi. 10.1093/hmg/ddg314

By:

Morabia, Alfredo;
Cayanis, Eftihia;
Costanza, Michael C.;
Ross, Barbara M.;
Flaherty, Maria Sol;
Alvin, Gabriela B.;
Das, Kamna;
Gilliam, T. Conrad

Publication type:

Article

Transgenic overexpression of caveolin-3 in the heart induces a cardiomyopathic phenotype.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 21, p. 2777, doi. 10.1093/hmg/ddg313

By:

Aravamudan, Bharathi;
Volonte, Daniela;
Ramani, Ravi;
Gursoy, Erdal;
Lisanti, Michael P.;
London, Barry;
Galbiati, Ferruccio

Publication type:

Article

The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 21, p. 2807, doi. 10.1093/hmg/ddg304

By:

Macedo, Maria G.;
Anar, Burcu;
Bronner, Iraad F.;
Cannella, Milena;
Squitieri, Ferdinando;
Bonifati, Vincenzo;
Hoogeveen, André;
Heutink, Peter;
Rizzu, Patrizia

Publication type:

Article

Copper-binding-site-null SOD1 causes ALS in transgenic mice: aggregates of non-native SOD1 delineate a common feature.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 21, p. 2753, doi. 10.1093/hmg/ddg312

By:

Wang, Jiou;
Slunt, Hilda;
Gonzales, Victoria;
Fromholt, David;
Coonfield, Michael;
Copeland, Neal G.;
Jenkins, Nancy A.;
Borchelt, David R.

Publication type:

Article

Genetic association of Alzheimer's disease with multiple polymorphisms in alpha-2-macroglobulin.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 21, p. 2765, doi. 10.1093/hmg/ddg310

By:

Saunders, Aleister J.;
Bertram, Lars;
Mullin, Kristina;
Sampson, Andrew J.;
Latifzai, Khushal;
Basu, Sanjay;
Jones, Jennifer;
Kinney, Devon;
MacKenzie-Ingano, Laura;
Yu, Stephen;
Albert, Marilyn S.;
Moscarillo, Thomas J.;
Go, Rodney C.P.;
Bassett, Susan S.;
Daly, Mark J.;
Laird, Nan M.;
Wang, Xin;
Velicelebi, Gonul;
Wagner, Steven L.;
Becker, David K.

Publication type:

Article

A central nervous system specific mouse model for thanatophoric dysplasia type II.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 21, p. 2863, doi. 10.1093/hmg/ddg309

By:

Lin, Ti;
Sandusky, Stacey B.;
Xue, Haipeng;
Fishbein, Kenneth W.;
Spencer, Richard G.;
Rao, Mahendra S.;
Francomano, Clair A.

Publication type:

Article

Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 21, p. 2837, doi. 10.1093/hmg/ddg306

By:

Siitonen, H. Annika;
Kopra, Outi;
Kääriäinen, Helena;
Haravuori, Henna;
Winter, Robin M.;
Säämänen, Anna-Marja;
Peltonen, Leena;
Kestilä, Marjo

Publication type:

Article

Early and reversible neuropathology induced by tetracycline-regulated lentiviral overexpression of mutant huntingtin in rat striatum.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 21, p. 2827, doi. 10.1093/hmg/ddg305

By:

Régulier, Etienne;
Trottier, Yvon;
Perrin, Valérie;
Aebischer, Patrick;
Déglon, Nicole

Publication type:

Article

Linkage and association with pulmonary function measures on chromosome 6q27 in the Framingham Heart Study.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 21, p. 2745, doi. 10.1093/hmg/ddg311

By:

Wilk, Jemma B.;
DeStefano, Anita L.;
Joost, Oscar;
Myers, Richard H.;
Cupples, L. Adrienne;
Slater, Karen;
Atwood, Larry D.;
Heard-Costa, Nancy L.;
Herbert, Alan;
O'Connor, George T.;
Gottlieb, Daniel J.

Publication type:

Article

A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22).

Published in:

Human Molecular Genetics, 2003, v. 12, n. 21, p. 2817, doi. 10.1093/hmg/ddg301

By:

Nimmakayalu, Manjunath A.;
Gotter, Anthony L.;
Shaikh, Tamim H.;
Emanuel, Beverly S.

Publication type:

Article

Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 21, p. 2789, doi. 10.1093/hmg/ddg300

By:

Watase, Kei;
Venken, Koen J. T.;
Sun, Yaling;
Orr, Harry T.;
Zoghbi, Huda Y.

Publication type:

Article

Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 21, p. 2845, doi. 10.1093/hmg/ddg297

By:

Scheel, Hartmut;
Tomiuk, Stefan;
Hofmann, Kay

Publication type:

Article

Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 21, p. 2797, doi. 10.1093/hmg/ddg308

By:

Karolyi, I. Jill;
Probst, Frank J.;
Beyer, Lisa;
Odeh, Hana;
Dootz, Gary;
Cha, Kelly B.;
Martin, Donna M.;
Avraham, Karen B.;
Kohrman, David;
Dolan, David F.;
Raphael, Yehoash;
Camper, Sally A.

Publication type:

Article

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 21, p. 2853, doi. 10.1093/hmg/ddg307

By:

Longman, Cheryl;
Brockington, Martin;
Torelli, Silvia;
Jimenez-Mallebrera, Cecilia;
Kennedy, Colin;
Khalil, Nofal;
Feng, Lucy;
Saran, Ravindra K.;
Voit, Thomas;
Merlini, Luciano;
Sewry, Caroline A.;
Brown, Susan C.;
Muntoni, Francesco

Publication type:

Article