Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 20

Results: 21

A genetic variation associated with plasma erythropoietin and a non-coding transcript of PRKAR1A in sickle cell disease.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 20, p. 4601, doi. 10.1093/hmg/ddw299

By:

Xu Zhang;
Shah, Binal N.;
Wei Zhang;
Saraf, Santosh L.;
Miasnikova, Galina;
Sergueeva, Adelina;
Ammosova, Tatiana;
Xiaomei Niu;
Nouraie, Mehdi;
Nekhai, Sergei;
Castro, Oswaldo;
Gladwin, Mark T.;
Prchal, Josef T.;
Garcia, Joe G. N.;
Machado, Roberto F.;
Gordeuk, Victor R.

Publication type:

Article

Cystic fibrosis gene modifier SLC26A9 modulates airway response to CFTR-directed therapeutics.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 20, p. 4590, doi. 10.1093/hmg/ddw290

By:

Strug, Lisa J.;
Gonska, Tanja;
Gengming He;
Keenan, Katherine;
Wan Ip;
Boëlle, Pierre-Yves;
Fan Lin;
Panjwani, Naim;
Jiafen Gong;
Weili Li;
Soave, David;
Bowei Xiao;
Tullis, Elizabeth;
Rabin, Harvey;
Parkins, Michael D.;
Price, April;
Zuberbuhler, Peter C.;
Corvo, Harriet;
Ratjen, Felix;
Lei Sun

Publication type:

Article

Regulation of neuronal morphogenesis by 14-3-3epsilon (Ywhae) via the microtubule binding protein, doublecortin.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 20, p. 4405, doi. 10.1093/hmg/ddw270

By:

Cornell, Brett;
Wachi, Tomoka;
Zhukarev, Vladimir;
Toyo-oka, Kazuhito

Publication type:

Article

Identification and validation of seven new loci showing differential DNA methylation related to serum lipid profile: an epigenome-wide approach. The REGICOR study.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 20, p. 4556, doi. 10.1093/hmg/ddw285

By:

Sayols-Baixeras, S.;
Subirana, I.;
Lluis-Ganella, C.;
Civeira, F.;
Roquer, J.;
AN Do;
Absher, D.;
Cenarro, A.;
Muñoz, D.;
Soriano-Tárraga, C.;
Jiménez-Conde, J.;
Ordovas, J. M.;
Senti, M.;
Aslibekyan, S.;
Marrugat, J.;
Arnett, D. K.;
Elosua, R.

Publication type:

Article

CORRIGENDUM.

Published in:: Human Molecular Genetics, 2016, v. 25, n. 20, p. 4610, doi. 10.1093/hmg/ddx023
Publication type:: Article

Exclusive expression of MeCP2 in the nervous system distinguishes between brain and peripheral Rett syndrome-like phenotypes.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 20, p. 4389, doi. 10.1093/hmg/ddw269

By:

Ross, Paul D.;
Guy, Jacky;
Selfridge, Jim;
Kamal, Bushra;
Bahey, Noha;
Tanner, K. Elizabeth;
Gillingwater, Thomas H.;
Jones, Ross A.;
Loughrey, Christopher M.;
McCarroll, Charlotte S.;
Bailey, Mark E. S.;
Bird, Adrian;
Cobb, Stuart

Publication type:

Article

Mouse Dux is myotoxic and shares partial functional homology with its human paralog DUX4.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 20, p. 4577, doi. 10.1093/hmg/ddw287

By:

Eidahl, Jocelyn O.;
Giesige, Carlee R.;
Domire, Jacqueline S.;
Wallace, Lindsay M.;
Fowler, Allison M.;
Guckes, Susan M.;
Garwick-Coppens, Sara E.;
Labhart, Paul;
Harper, Scott Q.

Publication type:

Article

Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 20, p. 4566, doi. 10.1093/hmg/ddw286

By:

Jun Wan Shin;
Kyung-Hee Kim;
Chao, Michael J.;
Atwal, Ranjit S.;
Gillis, Tammy;
MacDonald, Marcy E.;
Gusella, James F.;
Jong-Min Lee

Publication type:

Article

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 20, p. 4546, doi. 10.1093/hmg/ddw282

By:

Bedoni, Nicola;
Haer-Wigman, Lonneke;
Vaclavik, Veronika;
Tran, Viet H.;
Farinelli, Pietro;
Balzano, Sara;
Royer-Bertrand, Beryl;
El-Asrag, Mohammed E.;
Bonny, Olivier;
Ikonomidis, Christos;
Litzistorf, Yan;
Nikopoulos, Konstantinos;
Yioti, Georgia G.;
Stefaniotou, Maria I.;
McKibbin, Martin;
Booth, Adam P.;
Ellingford, Jamie M.;
Black, Graeme C.;
Toomes, Carmel;
Inglehearn, Chris F.

Publication type:

Article

Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 20, p. 4533, doi. 10.1093/hmg/ddw281

By:

Rao, Kollu N.;
Wei Zhang;
Linjing Li;
Anand, Manisha;
Khanna, Hemant

Publication type:

Article

Exploiting the CRISPR/Cas9 system to study alternative splicing in vivo: application to titin.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 20, p. 4518, doi. 10.1093/hmg/ddw280

By:

Charton, Karine;
Suel, Laurence;
Henriques, Sara F.;
Moussu, Jean-Paul;
Bovolenta, Matteo;
Taillepierre, Miguel;
Becker, Céline;
Lipson, Karelia;
Richard, Isabelle

Publication type:

Article

Impaired striatal dopamine release in homozygous Vps35 D620N knock-in mice.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 20, p. 4507, doi. 10.1093/hmg/ddw279

By:

Nobutaka Ishizu;
Daishi Yui;
Akira Hebisawa;
Hidenori Aizawa;
Wanpeng Cui;
Yuko Fujita;
Kenji Hashimoto;
Itsuki Ajioka;
Hidehiro Mizusawa;
Takanori Yokota;
Kei Watase

Publication type:

Article

Effect of genetic background on the phenotype of the Smn<sup>2B/-</sup> mouse model of spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 20, p. 4494, doi. 10.1093/hmg/ddw278

By:

Eshraghi, Mehdi;
McFall, Emily;
Gibeault, Sabrina;
Kothary, Rashmi

Publication type:

Article

Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 20, p. 4484, doi. 10.1093/hmg/ddw277

By:

Yohya Shigehara;
Shujiro Okuda;
Nemer, Georges;
Chedraoui, Adele;
Ryota Hayashi;
Fadi Bitar;
Hiroyuki Nakai;
Abbas, Ossama;
Daou, Laetitia;
Riichiro Abe;
Sleiman, Maria Bou;
Kibbi, Abdul Ghani;
Kurban, Mazen;
Yutaka Shimomura

Publication type:

Article

Reduced stress granule formation and cell death in fibroblasts with the A382T mutation of TARDBP gene: evidence for loss of TDP-43 nuclear function.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 20, p. 4473, doi. 10.1093/hmg/ddw276

By:

Orrù, Sandro;
Coni, Paola;
Floris, Andrea;
Littera, Roberto;
Carcassi, Carlo;
Sogos, Valeria;
Brancia, Carla

Publication type:

Article

HDAC inhibition in the cpfl1 mouse protects degenerating cone photoreceptors in vivo.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 20, p. 4462, doi. 10.1093/hmg/ddw275

By:

Trifunović, Dragana;
Arango-Gonzalez, Blanca;
Comitato, Antonella;
Barth, Melanie;
del Amo, Eva M.;
Kulkarni, Manoj;
Sahaboglu, Ayse;
Hauck, Stefanie M.;
Urtti, Arto;
Arsenijevic, Yvan;
Ueffing, Marius;
Marigo, Valeria;
Paquet-Durand, François

Publication type:

Article

Posterior cerebellar Purkinje cells in an SCA5/SPARCA1 mouse model are especially vulnerable to the synergistic effect of loss of β-III spectrin and GLAST.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 20, p. 4448, doi. 10.1093/hmg/ddw274

By:

Perkins, Emma M.;
Suminaite, Daumante;
Clarkson, Yvonne L.;
Sin Kwan Lee;
Lyndon, Alastair R.;
Rothstein, Jeffrey D.;
Wyllie, David J. A.;
Kohichi Tanaka;
Jackson, Mandy

Publication type:

Article

RpA1 ameliorates symptoms of mutant ataxin-1 knock-in mice and enhances DNA damage repair.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 20, p. 4432, doi. 10.1093/hmg/ddw272

By:

Juliana Bosso Taniguchi;
Kanoh Kondo;
Xigui Chen;
Hidenori Homma;
Takeaki Sudo;
Ying Mao;
Kei Watase;
Toshihiro Tanaka;
Kazuhiko Tagawa;
Takuya Tamura;
Shin-Ichi Muramatsu;
Hitoshi Okazawa

Publication type:

Article

Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 20, p. 4419, doi. 10.1093/hmg/ddw271

By:

Jagannathan, Sujatha;
Shadle, Sean C.;
Resnick, Rebecca;
Snider, Lauren;
Tawil, Rabi N.;
van der Maarel, Silvère M.;
Bradley, Robert K.;
Tapscott, Stephen J.

Publication type:

Article

Transcriptome analysis reveals rod/cone photoreceptor specific signatures across mammalian retinas.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 20, p. 4376, doi. 10.1093/hmg/ddw268

By:

Mustafi, Debarshi;
Kevany, Brian M.;
Xiaodong Bai;
Golczak, Marcin;
Adams, Mark D.;
Wynshaw-Boris, Anthony;
Palczewski, Krzysztof

Publication type:

Article

Vitamin B12 ameliorates the phenotype of a mouse model of DiGeorge syndrome.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 20, p. 4369, doi. 10.1093/hmg/ddw267

By:

Lania, Gabriella;
Bresciani, Alberto;
Bisbocci, Monica;
Francone, Alessandra;
Colonna, Vincenza;
Altamura, Sergio;
Baldini, Antonio

Publication type:

Article