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Human Molecular Genetics Volume 20 Issue 2

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Dystrophin conferral using human endothelium expressing HLA-E in the non-immunosuppressive murine model of Duchenne muscular dystrophy

Cui, Chang-Hao; Miyoshi, Shunichiro; Tsuji, Hiroko; Makino, Hatsune; Kanzaki, Seiichi; Kami, Daisuke; Terai, Masanori; Suzuki, Harumi; Umezawa, Akihiro

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011
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Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011
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A novel Caenorhabditis elegans allele, smn-1(cb131) , mimicking a mild form of spinal muscular atrophy, provides a convenient drug screening platform highlighting new and pre-approved compounds

Sleigh, James N.; Buckingham, Steven D.; Esmaeili, Behrooz; Viswanathan, Mohan; Cuppen, Edwin; Westlund, Bethany M.; Sattelle, David B.

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011
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Npc1 haploinsufficiency promotes weight gain and metabolic features associated with insulin resistance

Jelinek, David; Millward, Veronica; Birdi, Amandip; Trouard, Theodore P.; Heidenreich, Randall A.; Garver, William S.

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011
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Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration

Vlachantoni, Dafni; Bramall, Alexa N.; Murphy, Michael P.; Taylor, Robert W.; Shu, Xinhua; Tulloch, Brian; Van Veen, Theo; Turnbull, Douglass M.; McInnes, Roderick R.; Wright, Alan F.

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011
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ERK activation by the polyphenols fisetin and resveratrol provides neuroprotection in multiple models of Huntington's disease

Maher, Pamela; Dargusch, Richard; Bodai, Laszlo; Gerard, Paul E.; Purcell, Judith M.; Marsh, J. Lawrence

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011
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Defective gonadotropin-releasing hormone neuron migration in mice lacking SEMA3A signalling through NRP1 and NRP2: implications for the aetiology of hypogonadotropic hypogonadism

Cariboni, Anna; Davidson, Kathryn; Rakic, Sonja; Maggi, Roberto; Parnavelas, John G.; Ruhrberg, Christiana

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011
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Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries

Williams, Hywel J.; Craddock, Nicholas; Russo, Giancarlo; Hamshere, Marian L.; Moskvina, Valentina; Dwyer, Sarah; Smith, Rhodri L.; Green, Elaine; Grozeva, Detelina; Holmans, Peter; Owen, Michael J.; O'Donovan, Michael C.

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011
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Endothelial cells from humans and mice with polycystic kidney disease are characterized by polyploidy and chromosome segregation defects through survivin down-regulation

AbouAlaiwi, Wissam A.; Ratnam, Shobha; Booth, Robert L.; Shah, Jagesh V.; Nauli, Surya M.

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011
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Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity

Mencarelli, Monica; Dubern, Beatrice; Alili, Rohia; Maestrini, Sabrina; Benajiba, Lina; Tagliaferri, Mariantonella; Galan, Pilar; Rinaldi, Maura; Simon, Chantal; Tounian, Patrick; Hercberg, Serge; Liuzzi, Antonio; Di Blasio, Anna Maria; Clement, Karine

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011

Human Molecular Genetics Volume 20 Issue 2

Dystrophin conferral using human endothelium expressing HLA-E in the non-immunosuppressive murine model of Duchenne muscular dystrophy

Cui, Chang-Hao; Miyoshi, Shunichiro; Tsuji, Hiroko; Makino, Hatsune; Kanzaki, Seiichi; Kami, Daisuke; Terai, Masanori; Suzuki, Harumi; Umezawa, Akihiro

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011

Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011

A novel Caenorhabditis elegans allele, smn-1(cb131) , mimicking a mild form of spinal muscular atrophy, provides a convenient drug screening platform highlighting new and pre-approved compounds

Sleigh, James N.; Buckingham, Steven D.; Esmaeili, Behrooz; Viswanathan, Mohan; Cuppen, Edwin; Westlund, Bethany M.; Sattelle, David B.

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011

Npc1 haploinsufficiency promotes weight gain and metabolic features associated with insulin resistance

Jelinek, David; Millward, Veronica; Birdi, Amandip; Trouard, Theodore P.; Heidenreich, Randall A.; Garver, William S.

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011

Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration

Vlachantoni, Dafni; Bramall, Alexa N.; Murphy, Michael P.; Taylor, Robert W.; Shu, Xinhua; Tulloch, Brian; Van Veen, Theo; Turnbull, Douglass M.; McInnes, Roderick R.; Wright, Alan F.

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011

ERK activation by the polyphenols fisetin and resveratrol provides neuroprotection in multiple models of Huntington's disease

Maher, Pamela; Dargusch, Richard; Bodai, Laszlo; Gerard, Paul E.; Purcell, Judith M.; Marsh, J. Lawrence

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011

Defective gonadotropin-releasing hormone neuron migration in mice lacking SEMA3A signalling through NRP1 and NRP2: implications for the aetiology of hypogonadotropic hypogonadism

Cariboni, Anna; Davidson, Kathryn; Rakic, Sonja; Maggi, Roberto; Parnavelas, John G.; Ruhrberg, Christiana

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011

Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries

Williams, Hywel J.; Craddock, Nicholas; Russo, Giancarlo; Hamshere, Marian L.; Moskvina, Valentina; Dwyer, Sarah; Smith, Rhodri L.; Green, Elaine; Grozeva, Detelina; Holmans, Peter; Owen, Michael J.; O'Donovan, Michael C.

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011

Endothelial cells from humans and mice with polycystic kidney disease are characterized by polyploidy and chromosome segregation defects through survivin down-regulation

AbouAlaiwi, Wissam A.; Ratnam, Shobha; Booth, Robert L.; Shah, Jagesh V.; Nauli, Surya M.

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011

Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity

Mencarelli, Monica; Dubern, Beatrice; Alili, Rohia; Maestrini, Sabrina; Benajiba, Lina; Tagliaferri, Mariantonella; Galan, Pilar; Rinaldi, Maura; Simon, Chantal; Tounian, Patrick; Hercberg, Serge; Liuzzi, Antonio; Di Blasio, Anna Maria; Clement, Karine

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011

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Human Molecular Genetics Volume 20 Issue 2

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Cui, Chang-Hao; Miyoshi, Shunichiro; Tsuji, Hiroko; Makino, Hatsune; Kanzaki, Seiichi; Kami, Daisuke; Terai, Masanori; Suzuki, Harumi; Umezawa, Akihiro

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011

Sleigh, James N.; Buckingham, Steven D.; Esmaeili, Behrooz; Viswanathan, Mohan; Cuppen, Edwin; Westlund, Bethany M.; Sattelle, David B.

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011

Jelinek, David; Millward, Veronica; Birdi, Amandip; Trouard, Theodore P.; Heidenreich, Randall A.; Garver, William S.

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011

Vlachantoni, Dafni; Bramall, Alexa N.; Murphy, Michael P.; Taylor, Robert W.; Shu, Xinhua; Tulloch, Brian; Van Veen, Theo; Turnbull, Douglass M.; McInnes, Roderick R.; Wright, Alan F.

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011

Maher, Pamela; Dargusch, Richard; Bodai, Laszlo; Gerard, Paul E.; Purcell, Judith M.; Marsh, J. Lawrence

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011

Cariboni, Anna; Davidson, Kathryn; Rakic, Sonja; Maggi, Roberto; Parnavelas, John G.; Ruhrberg, Christiana

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011

Williams, Hywel J.; Craddock, Nicholas; Russo, Giancarlo; Hamshere, Marian L.; Moskvina, Valentina; Dwyer, Sarah; Smith, Rhodri L.; Green, Elaine; Grozeva, Detelina; Holmans, Peter; Owen, Michael J.; O'Donovan, Michael C.

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011

AbouAlaiwi, Wissam A.; Ratnam, Shobha; Booth, Robert L.; Shah, Jagesh V.; Nauli, Surya M.

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011

Mencarelli, Monica; Dubern, Beatrice; Alili, Rohia; Maestrini, Sabrina; Benajiba, Lina; Tagliaferri, Mariantonella; Galan, Pilar; Rinaldi, Maura; Simon, Chantal; Tounian, Patrick; Hercberg, Serge; Liuzzi, Antonio; Di Blasio, Anna Maria; Clement, Karine

Follow Human Molecular Genetics , Volume 20 (2) Oxford University Press – Jan 15, 2011