Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 8

Results: 25

Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2185, doi. 10.1093/hmg/ddu738

By:

Barbelanne, Marine;
Hossain, Delowar;
Puth Chan, David;
Peränen, Johan;
Tsang, William Y.

Publication type:

Article

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2218, doi. 10.1093/hmg/ddu740

By:

Hardies, Katia;
May, Patrick;
Djémié, Tania;
Tarta-Arsene, Oana;
Deconinck, Tine;
Craiu, Dana;
Helbig, Ingo;
Suls, Arvid;
Balling, Rudy;
Weckhuysen, Sarah;
De Jonghe, Peter;
Hirst, Jennifer

Publication type:

Article

Prenatal exposure to maternal smoking and offspring DNA methylation across the lifecourse: findings from the Avon Longitudinal Study of Parents and Children (ALSPAC).

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2201, doi. 10.1093/hmg/ddu739

By:

Richmond, Rebecca C.;
Simpkin, Andrew J.;
Woodward, Geoff;
Gaunt, Tom R.;
Lyttleton, Oliver;
McArdle, Wendy L.;
Ring, Susan M.;
Smith, Andrew D. A. C.;
Timpson, Nicholas J.;
Tilling, Kate;
Smith, George Davey;
Relton, Caroline L.

Publication type:

Article

The RNA-binding protein Rbfox1 regulates splicing required for skeletal muscle structure and function.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2360, doi. 10.1093/hmg/ddv003

By:

Pedrotti, Simona;
Giudice, Jimena;
Dagnino-Acosta, Adan;
Knoblauch, Mark;
Singh, Ravi K.;
Hanna, Amy;
Qianxing Mo;
Hicks, John;
Hamilton, Susan;
Cooper, Thomas A.

Publication type:

Article

CORRIGENDUM.

Published in:: Human Molecular Genetics, 2015, v. 24, n. 8, p. 2409, doi. 10.1093/hmg/ddv011
Publication type:: Article

MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2375, doi. 10.1093/hmg/ddv004

By:

Xi, Qiongchao J.;
Quintero-Rivera, Fabiola;
Keppler-Noreuil, Kim M.;
Ji Hyun Lee;
Higgins, Anne W.;
Anchan, Raymond M.;
Roberts, Amy E.;
Ihn Sik Seong;
Xueping Fan;
Lage, Kasper;
Lu, Lily Y.;
Tao, Joanna;
Xuchen Hu;
Berezney, Ronald;
Gelb, Bruce D.;
Kamp, Anna;
Moskowitz, Ivan P.;
Lacro, Ronald V.;
Lu, Weining;
Morton, Cynthia C.

Publication type:

Article

Dynamics of smoking-induced genome-wide methylation changes with time since smoking cessation.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2349, doi. 10.1093/hmg/ddu751

By:

Sandanger, Torkjel M.;
Guida, Florence;
Castagné, Raphaële;
Campanella, Gianluca;
Polidoro, Silvia;
Palli, Domenico;
Krogh, Vittorio;
Tumino, Rosario;
Sacerdote, Carlotta;
Panico, Salvatore;
Severi, Gianluca;
Kyrtopoulos, Soterios A.;
Georgiadis, Panagiotis;
Vermeulen, Roel C. H.;
Lund, Eiliv;
Vineis, Paolo;
Chadeau-Hyam, Marc

Publication type:

Article

TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2330, doi. 10.1093/hmg/ddu750

By:

Shan Gao;
Moreno, Myriam;
Eliason, Steven;
Huojun Cao;
Xiao Li;
Wenjie Yu;
Bidlack, Felicitas B.;
Margolis, Henry C.;
Baldini, Antonio;
Amendt, Brad A.

Publication type:

Article

Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2318, doi. 10.1093/hmg/ddu749

By:

Kunstman, John W.;
Juhlin, C. Christofer;
Goh, Gerald;
Brown, Taylor C.;
Stenman, Adam;
Healy, James M.;
Rubinstein, Jill C.;
Choi, Murim;
Kiss, Nimrod;
Nelson-Williams, Carol;
Mane, Shrikant;
Rimm, David L.;
Prasad, Manju L.;
Höög, Anders;
Zedenius, Jan;
Larsson, Catharina;
Korah, Reju;
Lifton, Richard P.;
Carling, Tobias

Publication type:

Article

Early Parkinson's disease symptoms in a-synuclein transgenic monkeys.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2308, doi. 10.1093/hmg/ddu748

By:

Yuyu Niu;
Xiangyu Guo;
Yongchang Chen;
Chuan-En Wang;
Jinquan Gao;
Weili Yang;
Yu Kang;
Wei Si;
Hong Wang;
Shang-Hsun Yang;
Shihua Li;
Weizhi Ji;
Xiao-Jiang Li

Publication type:

Article

Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2297, doi. 10.1093/hmg/ddu747

By:

Menezes, Minal J.;
Yiran Guo;
Jianguo Zhang;
Riley, Lisa G.;
Cooper, Sandra T.;
Thorburn, David R.;
Jiankang Li;
Dong, Daoyuan;
Zhijun Li;
Glessner, Joseph;
Davis, Ryan L.;
Sue, Carolyn M.;
Alexander, Stephen I.;
Arbuckle, Susan;
Kirwan, Paul;
Keating, Brendan J.;
Xun Xu;
Hakon Hakonarson;
Christodoulou, John

Publication type:

Article

Hepatic lentiviral gene transfer prevents the long-term onset of hepatic tumours of glycogen storage disease type 1a in mice.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2287, doi. 10.1093/hmg/ddu746

By:

Clar, Julie;
Mutel, Elodie;
Gri, Blandine;
Creneguy, Alison;
Stefanutti, Anne;
Gaillard, Sophie;
Ferry, Nicolas;
Beuf, Olivier;
Mithieux, Gilles;
Tuan Huy Nguyen;
Rajas, Fabienne

Publication type:

Article

Unveiling a common mechanism of apoptosis in β-cells and neurons in Friedreich's ataxia.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2274, doi. 10.1093/hmg/ddu745

By:

Igoillo-Esteve, Mariana;
Gurgul-Convey, Ewa;
Hu, Amélie;
Romagueira, Laila;
Dos Santos, Bichara;
Abdulkarim, Baroj;
Chintawar, Satyan;
Marselli, Lorella;
Marchetti, Piero;
Jonas, Jean-Christophe;
Eizirik, Décio L.;
Pandolfo, Massimo;
Cnop, Miriam

Publication type:

Article

CRIM1 haploinsufficiency causes defects in eye development in human and mouse.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2267, doi. 10.1093/hmg/ddu744

By:

Beleggia, Filippo;
Yun Li;
Jieqing Fan;
Elcioğlu, Nursel H.;
Toker, Ebru;
Wieland, Thomas;
Maumenee, Irene H.;
Akarsu, Nurten A.;
Meitinger, Thomas;
Strom, Tim M.;
Lang, Richard;
Wollnik, Bernd

Publication type:

Article

MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2247, doi. 10.1093/hmg/ddu743

By:

Tischner, Christin;
Hofer, Annette;
Wulff, Veronika;
Stepek, Joanna;
Dumitru, Iulia;
Becker, Lore;
Haack, Tobias;
Kremer, Laura;
Datta, Alexandre N.;
Sperl, Wolfgang;
Floss, Thomas;
Wurst, Wolfgang;
Chrzanowska-Lightowlers, Zofia;
De Angelis, Martin Hrabe;
Klopstock, Thomas;
Prokisch, Holger;
Wenz, Tina

Publication type:

Article

Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2241, doi. 10.1093/hmg/ddu742

By:

Riemersma, Moniek;
Sandrock, Julia;
Boltje, Thomas J.;
Büll, Christian;
Heise, Torben;
Ashikov, Angel;
Adema, Gosse J.;
van Bokhoven, Hans;
Lefeber, Dirk J.

Publication type:

Article

Low dietary protein content alleviates motor symptoms in mice with mutant dynactin/dynein-mediated neurodegeneration.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2228, doi. 10.1093/hmg/ddu741

By:

Wiesner, Diana;
Sinniger, Jérome;
Henriques, Alexandre;
Dieterlé, Stéphane;
Müller, Hans-Peter;
Rasche, Volker;
Ferger, Boris;
Dirrig-Grosch, Sylvie;
Soylu-Kucharz, Rana;
Petersén, Asa;
Walther, Paul;
Linkus, Birgit;
Kassubek, Jan;
Wong, Philip C.;
Ludolph, Albert C.;
Dupuis, Luc

Publication type:

Article

The Fragile X proteins Fmrp and Fxr2p cooperate to regulate glucose metabolism in mice.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2175, doi. 10.1093/hmg/ddu737

By:

Lumaban, Jeannette G.;
Nelson, David L.

Publication type:

Article

Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2163, doi. 10.1093/hmg/ddu736

By:

Adebola, Adijat A.;
Di Castri, Theo;
Chui-Zhen He;
Salvatierra, Laura A.;
Jian Zhao;
Brown, Kristy;
Lin, Chyuan-Sheng;
Worman, Howard J.;
Liem, Ronald K. H.

Publication type:

Article

Toll-like receptor 4 ablation in mdx mice reveals innate immunity as a therapeutic target in Duchenne muscular dystrophy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2147, doi. 10.1093/hmg/ddu735

By:

Giordano, Christian;
Mojumdar, Kamalika;
Feng Liang;
Lemaire, Christian;
Tong Li;
Richardson, John;
Divangahi, Maziar;
Qureshi, Salman;
Petrof, Basil J.

Publication type:

Article

The SMN structure reveals its crucial role in snRNP assembly.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2138, doi. 10.1093/hmg/ddu734

By:

Seng, Chenda O.;
Magee, Craig;
Young, Philip J.;
Lorson, Christian L.;
Allen, James P.

Publication type:

Article

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2125, doi. 10.1093/hmg/ddu733

By:

Chengliang Dong;
Peng Wei;
Xueqiu Jian;
Gibbs, Richard;
Boerwinkle, Eric;
Kai Wang;
Xiaoming Liu

Publication type:

Article

A genetic association study of activated partial thromboplastin time in European Americans and African Americans: the ARIC Study.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2401, doi. 10.1093/hmg/ddu732

By:

Lu-Chen Weng;
Cushman, Mary;
Pankow, James S.;
Basu, Saonli;
Boerwinkle, Eric;
Folsom, Aaron R.;
Weihong Tang

Publication type:

Article

Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2390, doi. 10.1093/hmg/ddu731

By:

Wensheng Lu;
Yu-Ching Cheng;
Keping Chen;
Hong Wang;
Gerhard, Glenn S.;
Still, Christopher D.;
Xin Chu;
Rongze Yang;
Parihar, Ankita;
O'Connell, Jeffrey R.;
Pollin, Toni I.;
Angles-Cano, Eduardo;
Quon, Michael J.;
Mitchell, Braxton D.;
Shuldiner, Alan R.;
Mao Fu

Publication type:

Article

Structural basis for misfolding in myocilin-associated glaucoma.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 8, p. 2111, doi. 10.1093/hmg/ddu730

By:

Donegan, Rebecca K.;
Hill, Shannon E.;
Freeman, Dana M.;
Nguyen, Elaine;
Orwig, Susan D.;
Turnage, Katherine C.;
Lieberman, Raquel L.

Publication type:

Article