Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 15

Results: 26

Systematic DNA methylation analysis of multiple cell lines reveals common and specific patterns within and across tissues of origin.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4374, doi. 10.1093/hmg/ddv172

By:

Xiaofei Yang;
Xiaojian Shao;
Lin Gao;
Shihua Zhang

Publication type:

Article

DLX4 is associated with orofacial clefting and abnormal jaw development.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4340, doi. 10.1093/hmg/ddv167

By:

Di Wu;
Mandal, Shyamali;
Choi, Alex;
Anderson, August;
Prochazkova, Michaela;
Perry, Hazel;
Gil-Da-Silva-Lopes, Vera L.;
Lao, Richard;
Wan, Eunice;
Paul Ling-Fung Tang;
Pui-yan Kwok;
Klein, Ophir;
Bian Zhuan;
Slavotinek, Anne M.

Publication type:

Article

Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4353, doi. 10.1093/hmg/ddv168

By:

Weismann, Cara M.;
Ferreira, Jennifer;
Keeler, Allison M.;
Qin Su;
Linghua Qui;
Shaffer, Scott A.;
Zuoshang Xu;
Guangping Gao;
Sena-Esteves, Miguel

Publication type:

Article

DnaJ-1 and karyopherin α3 suppress degeneration in a new Drosophila model of Spinocerebellar Ataxia Type 6.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4385, doi. 10.1093/hmg/ddv174

By:

Wei-Ling Tsou;
Hosking, Ryan R.;
Burr, Aaron A.;
Sutton, Joanna R.;
Ouyang, Michelle;
Xiaofei Du;
Gomez, Christopher M.;
Todi, Sokol V.

Publication type:

Article

BCM-95 and (2-hydroxypropyl)-β-cyclodextrin reverse autophagy dysfunction and deplete stored lipids in Sap C-deficient fibroblasts.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4198, doi. 10.1093/hmg/ddv153

By:

Tatti, Massimo;
Motta, Marialetizia;
Scarpa, Susanna;
Di Bartolomeo, Sabrina;
Cianfanelli, Valentina;
Tartaglia, Marco;
Salvioli, Rosa

Publication type:

Article

FGF8, c-Abl and p300 participate in a pathway that controls stability and function of the ΔNp63α protein.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4185, doi. 10.1093/hmg/ddv151

By:

Restelli, Michela;
Molinari, Elisa;
Marinari, Barbara;
Conte, Daniele;
Gnesutta, Nerina;
Costanzo, Antonio;
Merlo, Giorgio Roberto;
Guerrini, Luisa

Publication type:

Article

Epigenetic regulation of differential HLA-A allelic expression levels.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4268, doi. 10.1093/hmg/ddv158

By:

Ramsuran, Veron;
Kulkarni, Smita;
O'huigin, Colm;
Yuko Yuki;
Augusto, Danillo G.;
Xiaojiang Gao;
Carrington, Mary

Publication type:

Article

Mouse model of human RPE65 P25L hypomorph resembles wild type under normal light rearing but is fully resistant to acute light damage.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4417, doi. 10.1093/hmg/ddv178

By:

Yan Li;
Yu, Shirley;
Duncan, Todd;
Yichao Li;
Pinghu Liu;
Gene, Erelda;
Cortes-Pena, Yoel;
Haohua Qian;
Lijin Dong;
Redmond, T. Michael

Publication type:

Article

RAN translation at CGG repeats induces ubiquitin proteasome system impairment in models of fragile X-associated tremor ataxia syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4317, doi. 10.1093/hmg/ddv165

By:

Seok Yoon Oh;
Fang He;
Krans, Amy;
Frazer, Michelle;
Taylor, J. Paul;
Paulson, Henry L.;
Todd, Peter K.

Publication type:

Article

Clonally related uterine leiomyomas are common and display branched tumor evolution.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4407, doi. 10.1093/hmg/ddv177

By:

Mehine, Miika;
Heinonen, Hanna-Riikka;
Sarvilinna, Nanna;
Pitkänen, Esa;
Mäkinen, Netta;
Katainen, Riku;
Tuupanen, Sari;
Bützow, Ralf;
Sjöberg, Jari;
Aaltonen, Lauri A.

Publication type:

Article

TBK1 controls autophagosomal engulfment of polyubiquitinated mitochondria through p62/SQSTM1 phosphorylation.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4429, doi. 10.1093/hmg/ddv179

By:

Gen Matsumoto;
Tomomi Shimogori;
Nobutaka Hattori;
Nobuyuki Nukina

Publication type:

Article

Progressive postnatal decline in leptin sensitivity of arcuate hypothalamic neurons in the Magel2-null mouse model of Prader-Willi syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4276, doi. 10.1093/hmg/ddv159

By:

Pravdivyi, Igor;
Ballanyi, Klaus;
Colmers, William F.;
Wevrick, Rachel

Publication type:

Article

Gpr126/Adgrg6 deletion in cartilage models idiopathic scoliosis and pectus excavatum in mice.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4365, doi. 10.1093/hmg/ddv170

By:

Karner, Courtney M.;
Long, Fanxin;
Solnica-Krezel, Lilianna;
Monk, Kelly R.;
Gray, Ryan S.

Publication type:

Article

How much dystrophin is enough: the physiological consequences of different levels of dystrophin in the mdx mouse.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4225, doi. 10.1093/hmg/ddv155

By:

Godfrey, Caroline;
Muses, Sofia;
McClorey, Graham;
Wells, Kim E.;
Coursindel, Thibault;
Terry, Rebecca L.;
Betts, Corinne;
Hammond, Suzan;
O'Donovan, Liz;
Hildyard, John;
El Andaloussi, Samir;
Gait, Michael J.;
Wood, Matthew J.;
Wells, Dominic J.

Publication type:

Article

Identifying the biological pathways underlying human focal epilepsy: from complexity to coherence to centrality.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4306, doi. 10.1093/hmg/ddv163

By:

Mirza, Nasir;
Appleton, Richard;
Burn, Sasha;
Carr, Daniel;
Crooks, Daniel;
du Plessis, Daniel;
Duncan, Roderick;
Osman Farah, Jibril;
Josan, Vivek;
Miyajima, Fabio;
Mohanraj, Rajiv;
Shukralla, Arif;
Sills, Graeme J.;
Marson, Anthony G.;
Pirmohamed, Munir

Publication type:

Article

Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4443, doi. 10.1093/hmg/ddv180

By:

Van Laarhoven, Peter M.;
Neitzel, Leif R.;
Quintana, Anita M.;
Geiger, Elizabeth A.;
Zackai, Elaine H.;
Clouthier, David E.;
Artinger, Kristin B.;
Ming, Jeffrey E.;
Shaikh, Tamim H.

Publication type:

Article

The G2019S LRRK2 mutation increases myeloid cell chemotactic responses and enhances LRRK2 binding to actin-regulatory proteins.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4250, doi. 10.1093/hmg/ddv157

By:

Moehle, Mark S.;
Lima Daher, João Paulo;
Hull, Travis D.;
Boddu, Ravindra;
Abdelmotilib, Hisham A.;
Mobley, James;
Kannarkat, George T.;
Tansey, Malú G.;
West, Andrew B.

Publication type:

Article

A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4454, doi. 10.1093/hmg/ddv181

By:

Jensen, Sacha A.;
Iqbal, Sarah;
Bulsiewicz, Alicja;
Handford, Penny A.

Publication type:

Article

Second-generation compound for the modulation of utrophin in the therapy of DMD.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4212, doi. 10.1093/hmg/ddv154

By:

Guiraud, Simon;
Squire, Sarah E.;
Edwards, Benjamin;
Huijia Chen;
Burns, David T.;
Shah, Nandini;
Babbs, Arran;
Davies, Stephen G.;
Wynne, Graham M.;
Russell, Angela J.;
Elsey, David;
Wilson, Francis X.;
Tinsley, Jon M.;
Davies, Kay E.

Publication type:

Article

Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4397, doi. 10.1093/hmg/ddv176

By:

Grice, Stuart J.;
Sleigh, James N.;
Motley, William W.;
Ji-Long Liu;
Burgess, Robert W.;
Talbot, Kevin;
Cader, M. Zameel

Publication type:

Article

Seipin is necessary for normal brain development and spermatogenesis in addition to adipogenesis.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4238, doi. 10.1093/hmg/ddv156

By:

Ebihara, Chihiro;
Ebihara, Ken;
Megumi Aizawa-Abe;
Tomoji Mashimo;
Tsutomu Tomita;
Mingming Zhao;
Gumbilai, Valentino;
Toru Kusakabe;
Yuji Yamamoto;
Daisuke Aotani;
Sachiko Yamamoto-Kataoka;
Takeru Sakai;
Kiminori Hosoda;
Tadao Serikawa;
Kazuwa Nakao

Publication type:

Article

Disruption of the lamin A and matrin-3 interaction by myopathic LMNA mutations.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4284, doi. 10.1093/hmg/ddv160

By:

Depreux, Frederic F.;
Puckelwartz, Megan J.;
Augustynowicz, Aleksandra;
Wolfgeher, Don;
Labno, Christine M.;
Pierre-Louis, Dynora;
Cicka, Danielle;
Kron, Stephen J.;
Holaska, James;
McNally, Elizabeth M.

Publication type:

Article

Epigenome-wide association study (EWAS) of BMI, BMI change and waist circumference in African American adults identifies multiple replicated loci.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4464, doi. 10.1093/hmg/ddv161

By:

Demerath, Ellen W.;
Guan, Weihua;
Grove, Megan L.;
Aslibekyan, Stella;
Mendelson, Michael;
Yi-Hui Zhou;
Hedman, Åsa K.;
Sandling, Johanna K.;
Li-An Li;
Irvin, Marguerite R.;
Degui Zhi;
Deloukas, Panos;
Liming Liang;
Chunyu Liu;
Bressler, Jan;
Spector, Tim D.;
North, Kari;
Yun Li;
Absher, Devin M.;
Levy, Daniel

Publication type:

Article

Src inhibitors modulate frataxin protein levels.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4296, doi. 10.1093/hmg/ddv162

By:

Cherubini, Fabio;
Serio, Dario;
Guccini, Ilaria;
Fortuni, Silvia;
Arcuri, Gaetano;
Condò, Ivano;
Rufini, Alessandra;
Moiz, Shadman;
Camerini, Serena;
Crescenzi, Marco;
Testi, Roberto;
Malisan, Florence

Publication type:

Article

Spatiotemporal dynamics of the postnatal developing primate brain transcriptome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4327, doi. 10.1093/hmg/ddv166

By:

Bakken, Trygve E.;
Miller, Jeremy A.;
Luo, Rui;
Bernard, Amy;
Bennett, Jeffrey L.;
Chang-Kyu Lee;
Bertagnolli, Darren;
Parikshak, Neelroop N.;
Smith, Kimberly A.;
Sunkin, Susan M.;
Amaral, David G.;
Geschwind, Daniel H.;
Lein, Ed S.

Publication type:

Article

CORRIGENDUM.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 15, p. 4480, doi. 10.1093/hmg/ddv169
Publication type:: Article