Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 25

Results: 24

Reduced PLP2 expression increases ER-stress-induced neuronal apoptosis and risk for adverse neurological outcomes after hypoxia ischemia injury.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7221, doi. 10.1093/hmg/ddv422

By:

Lilei Zhang;
Tao Wang;
Valle, David

Publication type:

Article

Genome-wide genetic homogeneity between sexes and populations for human height and body mass index.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7445, doi. 10.1093/hmg/ddv443

By:

Jian Yang;
Bakshi, Andrew;
Zhihong Zhu;
Hemani, Gibran;
Vinkhuyzen, Anna A. E.;
Nolte, Ilja M.;
van Vliet-Ostaptchouk, Jana V.;
Snieder, Harold;
Esko, Tonu;
Milani, Lili;
Mägi, Reedik;
Metspalu, Andres;
Hamsten, Anders;
Magnusson, Patrik K.E.;
Pedersen, Nancy L.;
Ingelsson, Erik;
Visscher, Peter M.

Publication type:

Article

Regulation of SPRY3 by X chromosome and PAR2-linked promoters n an autism susceptibility region.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7450, doi. 10.1093/hmg/ddv448

By:

Ning, Zhenfei;
McLellan, Andrew S.;
Ball, Melanie;
Wynne, Freda;
O'Neill, Cora;
Mills, Walter;
Quinn, John P.;
Kleinjan, Dirk A.;
Anney, Richard J.;
Carmody, Ruaidhre J.;
O'Keeffe, Gerard;
Moore, Tom

Publication type:

Article

An insoluble frontotemporal lobar degeneration-associated TDP-43 C-terminal fragment causes neurodegeneration and hippocampus pathology in transgenic mice.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7241, doi. 10.1093/hmg/ddv424

By:

Walker, Adam K.;
Tripathy, Kalyan;
Restrepo, Clark R.;
Ge, Guanghui;
Yan Xu;
Linda K. Kwong;
Trojanowski, John Q.;
Lee, Virginia M.-Y.

Publication type:

Article

Methylation quantitative trait locus analysis of osteoarthritis links epigenetics with genetic risk.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7432, doi. 10.1093/hmg/ddv433

By:

Rushton, Michael D.;
Reynard, Louise N.;
Young, David A.;
Shepherd, Colin;
Aubourg, Guillaume;
Gee, Fiona;
Darlay, Rebecca;
Deehan, David;
Cordell, Heather J.;
Loughlin, John

Publication type:

Article

Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7159, doi. 10.1093/hmg/ddv384

By:

Ruiz, Marta;
Garcia, Georgina Perez;
Virumbrales, Maitane Ortiz;
Méneret, Aurelie;
Morant, Andrika;
Kottwitz, Jessica;
Fuchs, Tania;
Bonet, Justine;
Alegre, Pedro Gonzalez;
Hof, Patrick R.;
Ozelius, Laurie J.;
Ehrlich, Michelle E.

Publication type:

Article

Identification of shared and unique susceptibility pathways among cancers of the lung, breast, and prostate from genome-wide association studies and issue-specific protein interactions.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7406, doi. 10.1093/hmg/ddv440

By:

Qian, David C.;
Jinyoung Byun;
Younghun Han;
Greene, Casey S.;
Field, John K.;
Hung, Rayjean J.;
Brhane, Yonathan;
Mclaughlin, John R.;
Fehringerr, Gordon;
Landi, Maria Teresa;
Rosenberger, Albert;
Bickeböller, Heike;
Malhotra, Jyoti;
Risch, Angela;
Heinrich, Joachim;
Hunter, David J.;
Henderson, Brian E.;
Haiman, Christopher A.;
Schumacher, Fredrick R.;
Eeles, Rosalind A.

Publication type:

Article

A role for Kalirin-7 in corticostriatal synaptic dysfunction in Huntington's disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7265, doi. 10.1093/hmg/ddv426

By:

Puigdellívol, Mar;
Cherubini, Marta;
Brito, Verónica;
Giralt, Albert;
Suelves, Núria;
Ballesteros, Jesús;
Moratalla, Alfonsa Zamora;
Martín, Eduardo D.;
Eipper, Betty A.;
Alberch, Jordi;
Ginés, Silvia

Publication type:

Article

DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7361, doi. 10.1093/hmg/ddv437

By:

Volk, Timo;
Pannicke, Ulrich;
Reisli, Ismail;
Bulashevska, Alla;
Ritter, Julia;
Bjorkman, Andrea;
Schaffer, Alejandro A.;
Fliegauf, Manfred;
Sayar, Esra H.;
Salzer, Ulrich;
Fisch, Paul;
Pfeifer, Dietmar;
Di Virgilio, Michela;
Hongzhi Cao;
Fang Yang;
Zimmermann, Karin;
Keles, Sevgi;
Caliskaner, Zafer;
Güner, SŞkrü;
Schindler, Detlev

Publication type:

Article

Delayed pubertal onset and prepubertal Kiss1 expression in female mice lacking central oestrogen receptor beta.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7326, doi. 10.1093/hmg/ddv430

By:

Naulé, Lydie;
Robert, Vincent;
Parmentier, Caroline;
Martini, Mariangela;
Keller, Matthieu;
Solal, Martine Cohen;
Pouzet, Hélène Hardin;
Grange-Messent, Valérie;
Franceschini, Isabelle;
Kodja, Sakina Mhaouty

Publication type:

Article

PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7227, doi. 10.1093/hmg/ddv423

By:

Muhammad, Emad;
Levitas, Aviva;
Singh, Sonia R.;
Braiman, Alex;
Ofir, Rivka;
Etzion, Sharon;
Sheffield, Val C.;
Etzion, Yoram;
Carrier, Lucie;
Parvari, Ruti

Publication type:

Article

Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7349, doi. 10.1093/hmg/ddv435

By:

Mitsuji Moriya;
Shin-ichi Inoue;
Sachiko Miyagawa Tomita;
Yasumi Nakashima;
Daiju Oba;
Tetsuya Niihori;
Misato Hashi;
Hiroshi Ohnishi;
Shigeo Kure;
Yoichi Matsubara;
Yoko Aoki

Publication type:

Article

Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7339, doi. 10.1093/hmg/ddv431

By:

Mendes, Marisa I. S.;
Smith, Desirée E. C.;
Vicente, João B.;
De Almeida, Isabel Tavares;
Omran, Tawfeg Ben;
Salomons, Gajja S.;
Rivera, Isabel A.;
Leandro, Paula;
Blom, Henk J.

Publication type:

Article

α-COP binding to the survival motor neuron protein SMN is required for neuronal process outgrowth.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7295, doi. 10.1093/hmg/ddv428

By:

Hongxia Li;
Custer, Sara K.;
Gilson, Timra;
Le Thi Hao;
Beattie, Christine E.;
Androphy, Elliot J.

Publication type:

Article

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7171, doi. 10.1093/hmg/ddv414

By:

Kumar, Raman;
Corbett, Mark A.;
Van Bon, Bregje W. M.;
Gardner, Alison;
Woenig, Joshua A.;
Jolly, Lachlan A.;
Douglas, Evelyn;
Friend, Kathryn;
Chuan Tan;
Van Esch, Hilde;
Holvoet, Maureen;
Raynaud, Martine;
Field, Michael;
Leffler, Melanie;
Budny, Bartłomiej;
Wisniewska, Marzena;
Stronka, Magdalena Badura;
BielenÑska, Anna Latos;
Batanian, Jacqueline;
Rosenfeld, Jill A.

Publication type:

Article

Age-dependent gait abnormalities in mice lacking the Rnf170 gene linked to human autosomal-dominant sensory ataxia.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7196, doi. 10.1093/hmg/ddv417

By:

Youngsoo Kim;
Seong Hun Kim;
Kook Hwan Kim;
Sujin Chae;
Chanki Kim;
Jeongjin Kim;
Hee-Sup Shin;
Myung-Shik Lee;
Daesoo Kim

Publication type:

Article

CRISPR/Cas9-mediated Dax1 knockout in the monkey recapitulates human AHC-HH.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7255, doi. 10.1093/hmg/ddv425

By:

Yu Kang;
Bo Zheng;
Bin Shen;
Yongchang Chen;
Lei Wang;
Jianying Wang;
Yuyu Niu;
Yiqiang Cui;
Jiankui Zhou;
Hong Wang;
Xuejiang Guo;
Bian Hu;
Qi Zhou;
Jiahao Sha;
Weizhi Ji;
Xingxu Huang

Publication type:

Article

Amyotrophic lateral sclerosis and denervation alter sphingolipids and up-regulate glucosylceramide synthase.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7390, doi. 10.1093/hmg/ddv439

By:

Henriques, Alexandre;
Croixmarie, Vincent;
Priestman, David A.;
Rosenbohm, Angela;
Grosch, Sylvie Dirrig;
D'Ambra, Eleonora;
Huebecker, Mylene;
Hussain, Ghulam;
Neyret, Claire Boursier;
Laguna, Andoni Echaniz;
Ludolph, Albert C.;
Platt, Frances M.;
Walther, Bernard;
Spedding, Michael;
Loeffler, Jean-Philippe;
De Aguilar, Jose-Luis Gonzalez

Publication type:

Article

Myofibrillar instability exacerbated by acute exercise in filaminopathy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7207, doi. 10.1093/hmg/ddv421

By:

Chevessier, Frédéric;
Schuld, Julia;
Orfanos, Zacharias;
Plank, Anne-C.;
Wolf, Lucie;
Maerkens, Alexandra;
Unger, Andreas;
Schrehard, Ursula Schlötzer;
Kley, Rudolf A.;
Von Hörsten, Stephan;
Marcus, Katrin;
Linke, Wolfgang A.;
Vorgerd, Matthias;
van der Ven, Peter F. M.;
Fürst, Dieter O.;
Schröder, Rolf

Publication type:

Article

Multiple breast cancer risk variants are associated with differential transcript isoform expression in tumors.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7421, doi. 10.1093/hmg/ddv432

By:

Caswell, Jennifer L.;
Camarda, Roman;
Zhou, Alicia Y.;
Huntsman, Scott;
Hu, Donglei;
Brenner, Steven E.;
Zaitlen, Noah;
Goga, Andrei;
Ziv, Elad

Publication type:

Article

Plectin isoform 1-dependent nuclear docking of desmin networks affects myonuclear architecture and expression of mechanotransducers.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7373, doi. 10.1093/hmg/ddv438

By:

Staszewska, Ilona;
Fischer, Irmgard;
Wiche, Gerhard

Publication type:

Article

Mitochondrial division inhibitor 1 protects against mutant huntingtin-induced abnormal mitochondrial dynamics and neuronal damage in Huntington's disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7308, doi. 10.1093/hmg/ddv429

By:

Manczak, Maria;
Reddy, P. Hemachandra

Publication type:

Article

Overexpression of the mitochondrial methyltransferase TFB1M in the mouse does not impact mitoribosomal ethylation status or hearing.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7286, doi. 10.1093/hmg/ddv427

By:

Lee, Seungmin;
Rose, Simon;
Metodiev, Metodi D.;
Becker, Lore;
Vernaleken, Alexandra;
Klopstock, Thomas;
Durner, Valerie Gailus;
Fuchs, Helmut;
De Angelis, Martin Hrabê;
Douthwaite, Stephen;
Larsson, Nils-Göran

Publication type:

Article

Huntingtin differentially regulates the axonal transport of a sub-set of Rab-containing vesicles in vivo.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 25, p. 7182, doi. 10.1093/hmg/ddv415

By:

White II, Joseph A.;
Anderson, Eric;
Zimmerman, Katherine;
Kan Hong Zheng;
Rouhani, Roza;
Gunawardena, Shermali

Publication type:

Article