Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 18

Results: 17

Amyotrophic lateral sclerosis-related mutant superoxide dismutase 1 aggregates inhibit 14-3-3-mediated cell survival by sequestration into the JUNQ compartment.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 18, p. 3615, doi. 10.1093/hmg/ddx250

By:

Ju-Hwang Park;
Hae Rim Jang;
In Young Lee;
Hye Kyung Oh;
Eui-Ju Choi;
Hyangshuk Rhim;
Seongman Kang

Publication type:

Article

Identification of the molecular dysfunction caused by glutamate dehydrogenase S445L mutation responsible for hyperinsulinism/hyperammonemia.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 18, p. 3453, doi. 10.1093/hmg/ddx213

By:

Grimaldi, Mariagrazia;
Karaca, Melis;
Latini, Livia;
Brioudes, Estelle;
Schalch, Thomas;
Maechler, Pierre

Publication type:

Article

HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 18, p. 3651, doi. 10.1093/hmg/ddx272

By:

Ota, Sara;
Zi-Qiang Zhou;
Romero, Megan P.;
Guang Yang;
Hurlin, Peter J.

Publication type:

Article

Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 18, p. 3639, doi. 10.1093/hmg/ddx280

By:

Mägi, Reedik;
Momoko Horikoshi;
Sofer, Tamar;
Mahajan, Anubha;
Kitajima, Hidetoshi;
Franceschini, Nora;
McCarthy, Mark I.;
Morris, Andrew P.

Publication type:

Article

Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 18, p. 3630, doi. 10.1093/hmg/ddx251

By:

Protas, Meredith E.;
Weh, Eric;
Footz, Tim;
Kasberger, Jay;
Baraban, Scott C.;
Levin, Alex V.;
Katz, L. Jay;
Ritch, Robert;
Walter, Michael A.;
Semina, Elena V.;
Gould, Douglas B.

Publication type:

Article

A zebrafish model of X-linked adrenoleukodystrophy recapitulates key disease features and demonstrates a developmental requirement for abcd1 in oligodendrocyte patterning and myelination.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 18, p. 3600, doi. 10.1093/hmg/ddx249

By:

Strachan, Lauren R.;
Stevenson, Tamara J.;
Freshner, Briana;
Keefe, Matthew D.;
Bowles, D. Miranda;
Bonkowsky, Joshua L.

Publication type:

Article

Gene expression profiling of puberty-associated genes reveals abundant tissue and sex-specific changes across postnatal development.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 18, p. 3585, doi. 10.1093/hmg/ddx246

By:

Hou, Huayun;
Uusküla-Reimand, Liis;
Makarem, Maisam;
Corre, Christina;
Saleh, Shems;
Metcalf, Ariane;
Goldenberg, Anna;
Palmert, Mark R.;
Wilson, Michael D.

Publication type:

Article

Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 18, p. 3573, doi. 10.1093/hmg/ddx244

By:

Torriano, Simona;
Erkilic, Nejla;
Faugère, Valérie;
Damodar, Krishna;
Hamel, Christian P.;
Roux, Anne-Francoise;
Kalatzis, Vasiliki

Publication type:

Article

Circular RNA profiling reveals that circular RNAs from ANXA2 can be used as new biomarkers for multiple sclerosis.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 18, p. 3564, doi. 10.1093/hmg/ddx243

By:

Iparraguirre, Leire;
Muñoz-Culla, Maider;
Prada-Luengo, Iñigo;
Castillo-Triviño, Tamara;
Olascoaga, Javier;
Otaegui, David

Publication type:

Article

BMP4 uses several different effector pathways to regulate proliferation and differentiation in the epithelial and mesenchymal tissue compartments of the developing mouse ureter.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 18, p. 3553, doi. 10.1093/hmg/ddx242

By:

Mamo, Tamrat M.;
Wittern, Anna B.;
Kleppa, Marc-Jens;
Bohnenpoll, Tobias;
Weiss, Anna-Carina;
Kispert, Andreas

Publication type:

Article

Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 18, p. 3545, doi. 10.1093/hmg/ddx239

By:

Cao, Siqi;
Smith, Laura L.;
Padilla-Lopez, Sergio R.;
Guida, Brandon S.;
Blume, Elizabeth;
Shi, Jiahai;
Morton, Sarah U.;
Brownstein, Catherine A.;
Beggs, Alan H.;
Kruer, Michael C.;
Agrawal, Pankaj B.

Publication type:

Article

Enhanced vulnerability of human proteins towards disease-associated inactivation through divergent evolution.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 18, p. 3531, doi. 10.1093/hmg/ddx238

By:

Medina-Carmona, Encarnación;
Fuchs, Julian E.;
Gavira, Jose A.;
Mesa-Torres, Noel;
Neira, Jose L.;
Salido, Eduardo;
Palomino-Morales, Rogelio;
Burgos, Miguel;
Timson, David J.;
Pey, Angel L.

Publication type:

Article

Evolution of the sperm methylome of primates is associated with retrotransposon insertions and genome instability.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 18, p. 3508, doi. 10.1093/hmg/ddx236

By:

Kei Fukuda;
Yukihiro Inoguchi;
Kenji Ichiyanagi;
Tomoko Ichiyanagi;
Yasuhiro Go;
Masashi Nagano;
Yojiro Yanagawa;
Noboru Takaesu;
Yasuyuki Ohkawa;
Hiroo Imai;
Hiroyuki Sasaki

Publication type:

Article

The neurosteroid pregnenolone reverts microtubule derangement induced by the loss of a functional CDKL5-IQGAP1 complex.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 18, p. 3520, doi. 10.1093/hmg/ddx237

By:

Barbiero, Isabella;
Peroni, Diana;
Tramarin, Marco;
Chandola, Chetan;
Rusconi, Laura;
Landsberger, Nicoletta;
Kilstrup-Nielsen, Charlotte

Publication type:

Article

Age-dependent effects of Armc5 haploinsufficiency on adrenocortical function.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 18, p. 3495, doi. 10.1093/hmg/ddx235

By:

Berthon, A.;
Faucz, F. R.;
Espiard, S.;
Drougat, L.;
Bertherat, J.;
Stratakis, C. A.

Publication type:

Article

Rescue of peripheral vestibular function in Usher syndrome mice using a splice-switching antisense oligonucleotide.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 18, p. 3482, doi. 10.1093/hmg/ddx234

By:

Vijayakumar, Sarath;
Depreux, Frederic F.;
Jodelka, Francine M.;
Lentz, Jennifer J.;
Rigo, Frank;
Jones, Timothy A.;
Hastings, Michelle L.

Publication type:

Article

Loss of native α-synuclein multimerization by strategically mutating its amphipathic helix causes abnormal vesicle interactions in neuronal cells.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 18, p. 3466, doi. 10.1093/hmg/ddx227

By:

Dettmer, Ulf;
Ramalingam, Nagendran;
von Saucken, Victoria E.;
Kim, Tae-Eun;
Newman, Andrew J.;
Terry-Kantor, Elizabeth;
Nuber, Silke;
Ericsson, Maria;
Fanning, Saranna;
Bartels, Tim;
Lindquist, Susan;
Levy, Oren A.;
Selkoe, Dennis

Publication type:

Article