Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 16

Results: 25

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 16, p. NP, doi. 10.1093/hmg/ddu381
Publication type:: Article

Predicting HLA alleles from high-resolution SNP data in three Southeast Asian populations.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4443, doi. 10.1093/hmg/ddu149

By:

Pillai, Nisha Esakimuthu;
Okada, Yukinori;
Saw, Woei-Yuh;
Ong, Rick Twee-Hee;
Wang, Xu;
Tantoso, Erwin;
Xu, Wenting;
Peterson, Trevor A.;
Bielawny, Thomas;
Ali, Mohammad;
Tay, Koon-Yong;
Poh, Wan-Ting;
Tan, Linda Wei-Lin;
Koo, Seok-Hwee;
Lim, Wei-Yen;
Soong, Richie;
Wenk, Markus;
Raychaudhuri, Soumya;
Little, Peter;
Plummer, Francis A.

Publication type:

Article

Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4302, doi. 10.1093/hmg/ddu147

By:

Roberts, Neil A.;
Woolf, Adrian S.;
Stuart, Helen M.;
Thuret, Raphaël;
McKenzie, Edward A.;
Newman, William G.;
Hilton, Emma N.

Publication type:

Article

Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4357, doi. 10.1093/hmg/ddu153

By:

McDonald, David A.;
Shi, Changbin;
Shenkar, Robert;
Gallione, Carol J.;
Akers, Amy L.;
Li, Stephanie;
De Castro, Nicholas;
Berg, Michel J.;
Corcoran, David L.;
Awad, Issam A.;
Marchuk, Douglas A.

Publication type:

Article

RAD50 phosphorylation promotes ATR downstream signaling and DNA restart following replication stress.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4232, doi. 10.1093/hmg/ddu141

By:

Gatei, Magtouf;
Kijas, Amanda W.;
Biard, Denis;
Dörk, Thilo;
Lavin, Martin F.

Publication type:

Article

Distinct pathways leading to TDP-43-induced cellular dysfunctions.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4345, doi. 10.1093/hmg/ddu152

By:

Yamashita, Makiko;
Nonaka, Takashi;
Hirai, Shinobu;
Miwa, Akiko;
Okado, Haruo;
Arai, Tetsuaki;
Hosokawa, Masato;
Akiyama, Haruhiko;
Hasegawa, Masato

Publication type:

Article

Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4249, doi. 10.1093/hmg/ddu142

By:

Boyer, Justin G.;
Deguise, Marc-Olivier;
Murray, Lyndsay M.;
Yazdani, Armin;
De Repentigny, Yves;
Boudreau-Larivière, Céline;
Kothary, Rashmi

Publication type:

Article

Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4452

By:

Cousminer, Diana L.;
Stergiakouli, Evangelia;
Berry, Diane J.;
Ang, Wei;
Groen-Blokhuis, Maria M.;
Körner, Antje;
Siitonen, Niina;
Ntalla, Ioanna;
Marinelli, Marcella;
Perry, John R.B.;
Kettunen, Johannes;
Jansen, Rick;
Surakka, Ida;
Timpson, Nicholas J.;
Ring, Susan;
Mcmahon, George;
Power, Chris;
Wang, Carol;
Kähönen, Mika;
Viikari, Jorma

Publication type:

Article

Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4272, doi. 10.1093/hmg/ddu144

By:

Russell, Mark W.;
Raeker, Maide O.;
Geisler, Sarah B.;
Thomas, Peedikayil E.;
Simmons, Tracy A.;
Bernat, John A.;
Thorsson, Thor;
Innis, Jeffrey W.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 16, p. NP, doi. 10.1093/hmg/ddu383
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 16, p. NP, doi. 10.1093/hmg/ddu382
Publication type:: Article

Regulation of a novel isoform of Receptor Expression Enhancing Protein REEP6 in rod photoreceptors by bZIP transcription factor NRL.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4260, doi. 10.1093/hmg/ddu143

By:

Hao, Hong;
Veleri, Shobi;
Sun, Bo;
Kim, Douglas S.;
Keeley, Patrick W.;
Kim, Jung-Woong;
Yang, Hyun-Jin;
Yadav, Sharda P.;
Manjunath, Souparnika H.;
Sood, Raman;
Liu, Paul;
Reese, Benjamin E.;
Swaroop, Anand

Publication type:

Article

Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4285, doi. 10.1093/hmg/ddu146

By:

Cornelius, Nanna;
Corydon, Thomas J.;
Gregersen, Niels;
Olsen, Rikke K.J.

Publication type:

Article

A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4433, doi. 10.1093/hmg/ddu145

By:

Kwak, Soo Heon;
Park, Young Joo;
Go, Min Jin;
Lee, Kyu Eun;
Kim, Su-jin;
Choi, Hoon Sung;
Kim, Tae Hyuk;
Choi, Sung Hee;
Lim, Soo;
Kim, Ki Woong;
Park, Do Joon;
Kim, Sung Soo;
Lee, Jong-Young;
Park, Kyong Soo;
Jang, Hak C.;
Cho, Nam H.

Publication type:

Article

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4315, doi. 10.1093/hmg/ddu148

By:

Flex, Elisabetta;
Jaiswal, Mamta;
Pantaleoni, Francesca;
Martinelli, Simone;
Strullu, Marion;
Fansa, Eyad K.;
Caye, Aurélie;
De Luca, Alessandro;
Lepri, Francesca;
Dvorsky, Radovan;
Pannone, Luca;
Paolacci, Stefano;
Zhang, Si-Cai;
Fodale, Valentina;
Bocchinfuso, Gianfranco;
Rossi, Cesare;
Burkitt-Wright, Emma M.M.;
Farrotti, Andrea;
Stellacci, Emilia;
Cecchetti, Serena

Publication type:

Article

Inhibition of soluble tumor necrosis factor is therapeutic in Huntington's disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4328, doi. 10.1093/hmg/ddu151

By:

Hsiao, Han-Yun;
Chiu, Feng-Lan;
Chen, Chiung-Mei;
Wu, Yih-Ru;
Chen, Hui-Mei;
Chen, Yu-Chen;
Kuo, Hung-Chih;
Chern, Yijuang

Publication type:

Article

WIP modulates dendritic spine actin cytoskeleton by transcriptional control of lipid metabolic enzymes.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4383, doi. 10.1093/hmg/ddu155

By:

Franco-Villanueva, Ana;
Fernández-López, Estefanía;
Gabandé-Rodríguez, Enrique;
Bañón-Rodríguez, Inmaculada;
Esteban, Jose Antonio;
Antón, Inés M.;
Ledesma, María Dolores

Publication type:

Article

CHARGE and Kabuki syndromes: a phenotypic and molecular link.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4396, doi. 10.1093/hmg/ddu156

By:

Schulz, Yvonne;
Freese, Luisa;
Mänz, Johanna;
Zoll, Barbara;
Völter, Christiane;
Brockmann, Knut;
Bögershausen, Nina;
Becker, Jutta;
Wollnik, Bernd;
Pauli, Silke

Publication type:

Article

Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4420, doi. 10.1093/hmg/ddu139

By:

Deelen, Joris;
Beekman, Marian;
Uh, Hae-Won;
Broer, Linda;
Ayers, Kristin L.;
Tan, Qihua;
Kamatani, Yoichiro;
Bennet, Anna M.;
Tamm, Riin;
Trompet, Stella;
Guðbjartsson, Daníel F.;
Flachsbart, Friederike;
Rose, Giuseppina;
Viktorin, Alexander;
Fischer, Krista;
Nygaard, Marianne;
Cordell, Heather J.;
Crocco, Paolina;
van den Akker, Erik B.;
Böhringer, Stefan

Publication type:

Article

Tbx1 is required autonomously for cell survival and fate in the pharyngeal core mesoderm to form the muscles of mastication.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4215, doi. 10.1093/hmg/ddu140

By:

Kong, Ping;
Racedo, Silvia E.;
Macchiarulo, Stephania;
Hu, Zunju;
Carpenter, Courtney;
Guo, Tingwei;
Wang, Tao;
Zheng, Deyou;
Morrow, Bernice E.

Publication type:

Article

Treatment with an antibody directed against Nogo-A delays disease progression in the SOD1G93A mouse model of Amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4187, doi. 10.1093/hmg/ddu136

By:

Bros-Facer, Virginie;
Krull, David;
Taylor, Adam;
Dick, James R.T.;
Bates, Stewart A.;
Cleveland, Matthew S.;
Prinjha, Rabinder K.;
Greensmith, Linda

Publication type:

Article

NRIP1/RIP140 siRNA-mediated attenuation counteracts mitochondrial dysfunction in Down syndrome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4406, doi. 10.1093/hmg/ddu157

By:

Izzo, Antonella;
Manco, Rosanna;
Bonfiglio, Ferdinando;
Calì, Gaetano;
De Cristofaro, Tiziana;
Patergnani, Simone;
Cicatiello, Rita;
Scrima, Rosella;
Zannini, Mariastella;
Pinton, Paolo;
Conti, Anna;
Nitsch, Lucio

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 16, p. NP, doi. 10.1093/hmg/ddu380
Publication type:: Article

Membrane recruitment of endogenous LRRK2 precedes its potent regulation of autophagy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4201, doi. 10.1093/hmg/ddu138

By:

Schapansky, Jason;
Nardozzi, Jonathan D.;
Felizia, Fredrik;
LaVoie, Matthew J.

Publication type:

Article

SIK1 localizes with nephrin in glomerular podocytes and its polymorphism predicts kidney injury.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 16, p. 4371, doi. 10.1093/hmg/ddu154

By:

Ferrandi, M.;
Molinari, I.;
Matafora, V.;
Zerbini, G.;
Trevisani, F.;
Rastaldi, M.P.;
Simonini, M.;
Giardino, L.;
Ferrari, P.;
Manunta, P.

Publication type:

Article