Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 20

Results: 18

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking.

Published in:: Human Molecular Genetics, 2017, v. 26, n. 20, p. 4093, doi. 10.1093/hmg/ddx309
Publication type:: Article

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 20, p. 4055, doi. 10.1093/hmg/ddx296

By:

Fazeli, Walid;
Herkenrath, Peter;
Stiller, Barbara;
Neugebauer, Antje;
Fricke, Julia;
Lang-Roth, Ruth;
Nürnberg, Gudrun;
Thoenes, Michaela;
Becker, Jutta;
Altmüller, Janine;
Volk, Alexander E.;
Kubisch, Christian;
Heller, Raoul

Publication type:

Article

Ube3a deficiency inhibits amyloid plaque formation in APPswe/PS1δE9 mouse model of Alzheimer's disease.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 20, p. 4042, doi. 10.1093/hmg/ddx295

By:

Singh, Brijesh Kumar;
Vatsa, Naman;
Kumar, Vipendra;
Shekhar, Shashi;
Sharma, Ankit;
Jana, Nihar Ranjan

Publication type:

Article

Metalloprotease-mediated cleavage of PlexinD1 and its sequestration to actin rods in the motoneuron disease spinal muscular atrophy (SMA).

Published in:

Human Molecular Genetics, 2017, v. 26, n. 20, p. 3946, doi. 10.1093/hmg/ddx282

By:

Rademacher, Sebastian;
Verheijen, Bert M.;
Hensel, Niko;
Peters, Miriam;
Bora, Gamze;
Brandes, Gudrun;
de Sá, Renata Vieira;
Heidrich, Natascha;
Fischer, Silke;
Brinkmann, Hella;
van der Pol, W. Ludo;
Wirth, Brunhilde;
Pasterkamp, R. Jeroen;
Claus, Peter

Publication type:

Article

A functional variant in MIR4300HG, the host gene of microRNA MIR4300 is associated with progression of adolescent idiopathic scoliosis.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 20, p. 4086, doi. 10.1093/hmg/ddx291

By:

Yoji Ogura;
Ikuyo Kou;
Yohei Takahashi;
Kazuki Takeda;
Shohei Minami;
Noriaki Kawakami;
Koki Uno;
Manabu Ito;
Ikuho Yonezawa;
Takashi Kaito;
Haruhisa Yanagida;
Kei Watanabe;
Hiroshi Taneichi;
Katsumi Harimaya;
Yuki Taniguchi;
Toshiaki Kotani;
Taichi Tsuji;
Teppei Suzuki;
Hideki Sudo;
Nobuyuki Fujita

Publication type:

Article

Primary angle closure glaucoma (PACG) susceptibility gene PLEKHA7 encodes a novel Rac1/Cdc42 GAP that modulates cell migration and blood-aqueous barrier function.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 20, p. 4011, doi. 10.1093/hmg/ddx292

By:

Mei-Chin Lee;
Shei, William;
Chan, Anita S.;
Boon-Tin Chua;
Shuang-Ru Goh;
Yaan-Fun Chong;
Hilmy, Maryam H.;
Nongpiur, Monisha E.;
Baskaran, Mani;
Chiea-Chuen Khor;
Tin Aung;
Hunziker, Walter;
Vithana, Eranga N.

Publication type:

Article

Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 20, p. 3989, doi. 10.1093/hmg/ddx288

By:

Abiusi, Emanuela;
D'Alessandro, Manuela;
Dieterich, Klaus;
Quevarec, Loic;
Turczynski, Sandrina;
Valfort, Aurore-Cecile;
Mezin, Paulette;
Jouk, Pierre Simon;
Gut, Marta;
Gut, Ivo;
Bessereau, Jean Louis;
Melki, Judith

Publication type:

Article

DJ-1 is a redox sensitive adapter protein for high molecular weight complexes involved in regulation of catecholamine homeostasis.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 20, p. 4028, doi. 10.1093/hmg/ddx294

By:

Piston, Dominik;
Alvarez-Erviti, Lydia;
Bansal, Vikas;
Gargano, Daniela;
Zhi Yao;
Szabadkai, Gyorgy;
Odell, Mark;
Puno, M. Rhyan;
Björkblom, Benny;
Maple-Grødem, Jodi;
Breuer, Peter;
Kaut, Oliver;
Larsen, Jan Petter;
Bonn, Stefan;
Møller, Simon Geir;
Wiillner, Ullrich;
Schapira, Anthony H. V.;
Gegg, Matthew E.

Publication type:

Article

Enhanced tau pathology via RanBP9 and Hsp90/Hsc70 chaperone complexes.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 20, p. 3973, doi. 10.1093/hmg/ddx284

By:

Woo, Jung A.;
Tian Liu;
Xingyu Zhao;
Trotter, Courtney;
Yrigoin, Ksenia;
Cazzaro, Sara;
De Narvaez, Emilio;
Khan, Hirah;
Witas, Richard;
Bukhari, Anusha;
Makati, Kamal;
Xinming Wang;
Dickey, Chad;
Kang, David E.

Publication type:

Article

Absence of RNase H2 triggers generation of immunogenic micronuclei removed by autophagy.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 20, p. 3960, doi. 10.1093/hmg/ddx283

By:

Bartsch, Kareen;
Knittler, Katharina;
Borowski, Christopher;
Rudnik, Sönke;
Damme, Markus;
Aden, Konrad;
Spehlmann, Martina E.;
Frey, Norbert;
Saftig, Paul;
Chalaris, Athena;
Rabe, Björn

Publication type:

Article

Maternal BMI at the start of pregnancy and offspring epigenome-wide DNA methylation: findings from the pregnancy and childhood epigenetics (PACE) consortium.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 20, p. 4067, doi. 10.1093/hmg/ddx290

By:

Sharp, Gemma C.;
Salas, Lucas A.;
Monnereau, Claire;
Allard, Catherine;
Yousefi, Paul;
Everson, Todd M.;
Bohlin, Jon;
Zongli Xu;
Rae-Chi Huang;
Reese, Sarah E.;
Cheng-Jian Xu;
Baïz, Nour;
Hoyo, Cathrine;
Agha, Golareh;
Roy, Ritu;
Holloway, John W.;
Ghantous, Akram;
Merid, Simon K.;
Bakulski, Kelly M.;
Küpers, Leanne K.

Publication type:

Article

Potassium channel dysfunction underlies Purkinje neuron spiking abnormalities in spinocerebellar ataxia type 2.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 20, p. 3935, doi. 10.1093/hmg/ddx281

By:

Dell'Orco, James M.;
Pulst, Stefan M.;
Shakkottai, Vikram G.

Publication type:

Article

Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 20, p. 3995, doi. 10.1093/hmg/ddx289

By:

Copping, Nycole A.;
Christian, Sarah G. B.;
Ritter, Dylan J.;
Islam, M. Saharul;
Buscher, Nathalie;
Zolkowska, Dorota;
Pride, Michael C.;
Berg, Elizabeth L.;
LaSalle, Janine M.;
Ellegood, Jacob;
Lerch, Jason P.;
Reiter, Lawrence T.;
Silverman, Jill L.;
Dindot, Scott V.

Publication type:

Article

Mice lacking cyclin-dependent kinase-like 5 manifest autistic and ADHD-like behaviors.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 20, p. 3922, doi. 10.1093/hmg/ddx279

By:

Cian-Ling Jhang;
Tzyy-Nan Huang;
Yi-Ping Hsueh;
Wenlin Liao

Publication type:

Article

Differential protective effects of connective tissue growth factor against Aβ neurotoxicity on neurons and glia.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 20, p. 3909, doi. 10.1093/hmg/ddx278

By:

Cheng-Ning Yang;
Min-Fang Wu;
Chung-Chih Liu;
Wei-Hung Jung;
Yu-Chin Chang;
Wang-Pao Lee;
Young-Ji Shiao;
Chia-Lin Wu;
Horng-Huei Liou;
Sze-Kwan Lin;
Chih-Chiang Chan

Publication type:

Article

Mdm2 mediates FMRP- and Gp1 mGluR-dependent protein translation and neural network activity.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 20, p. 3895, doi. 10.1093/hmg/ddx276

By:

Dai-Chi Liu;
Seimetz, Joseph;
Kwan Young Lee;
Kalsotra, Auinash;
Hee Jung Chung;
Hua Lu;
Nien-Pei Tsai

Publication type:

Article

Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 20, p. 3883, doi. 10.1093/hmg/ddx271

By:

Briet, Claire;
Peredali, Arrate;
Le Stunff, Catherine;
Motte, Emmanuelle;
de Dios Garcia-Diaz, Juan;
de Nanclares, Guiomar Perez;
Dumaz, Nicolas;
Silve, Caroline

Publication type:

Article

A point mutation in the ion conduction pore of AMP A receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 20, p. 3869, doi. 10.1093/hmg/ddx270

By:

Davies, Benjamin;
Brown, Laurence A.;
Cais, Ondrej;
Watson, Jake;
Clayton, Amber J.;
Chang, Veronica T.;
Biggs, Daniel;
Preece, Christopher;
Hernandez-Pliego, Polinka;
Krohn, Jon;
Bhomra, Amarjit;
Twigg, Stephen R. F.;
Rimmer, Andrew;
Kanapin, Alexander;
Sen, Arjune;
Zaiwalla, Zenobia;
McVean, Gil;
Foster, Russell;
Donnelly, Peter;
Taylor, Jenny C.

Publication type:

Article