Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 24

Results: 19

Potentiation of excitatory synaptic transmission ameliorates aggression in mice with Stxbp1 haploinsufficiency.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4961, doi. 10.1093/hmg/ddx379

By:

Hiroyuki Miyamoto;
Atsushi Shimohata;
Manabu Abe;
Teruo Abe;
Emi Mazaki;
Kenji Amano;
Toshimitsu Suzuki;
Tetsuya Tatsukawa;
Shigeyoshi Itohara;
Kenji Sakimura;
Kazuhiro Yamakawa

Publication type:

Article

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4937, doi. 10.1093/hmg/ddx377

By:

Yanyan Peng;
Shinde, Deepali N.;
Valencia, C. Alexander;
Jun-Song Mo;
Rosenfeld, Jill;
Cho, Megan Truitt;
Chamberlin, Adam;
Zhuo Li;
Jie Liu;
Baoheng Gui;
Brockhage, Rachel;
Basinger, Alice;
Alvarez-Leon, Brenda;
Heydemann, Peter;
Magoulas, Pilar L.;
Lewis, Andrea M.;
Scaglia, Fernando;
Gril, Solange;
Shuk Ching Chong;
Bower, Matthew

Publication type:

Article

Thrombospondin-1 and disease progression in dysferlinopathy.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4951, doi. 10.1093/hmg/ddx378

By:

Urao, Norifumi;
Mirza, Rita E.;
Corbiere, Thomas F.;
Hollander, Zsuzsanna;
Borchers, Christoph H.;
Koh, Timothy J.

Publication type:

Article

Tacrolimus rescues the signaling and gene expression signature of endothelial ALK1 loss-of-function and improves HHT vascular pathology.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4786, doi. 10.1093/hmg/ddx358

By:

Ruiz, Santiago;
Chandakkar, Pallavi;
Haitian Zhao;
Papoin, Julien;
Chatterjee, Prodyot K.;
Christen, Erica;
Metz, Christine N.;
Blanc, Lionel;
Campagne, Fabien;
Marambaud, Philippe

Publication type:

Article

The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4975, doi. 10.1093/hmg/ddx369

By:

Velkova, Aneliya;
Diaz, Jennifer E. L.;
Pangilinan, Faith;
Molloy, Anne M.;
Mills, James L.;
Shane, Barry;
Sanchez, Erica;
Cunningham, Conal;
McNulty, Helene;
Cropp, Cheryl D.;
Bailey-Wilson, Joan E.;
Wilson, Alexander F.;
Brody, Lawrence C.

Publication type:

Article

The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4896, doi. 10.1093/hmg/ddx370

By:

Athanasiou, Dimitra;
Aguila, Monica;
Bellingham, James;
Kanuga, Naheed;
Adamson, Peter;
Cheetham, Michael E.

Publication type:

Article

Nuclear localized C9orf72-associated argininecontaining dipeptides exhibit age-dependent toxicity in C. elegans.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4916, doi. 10.1093/hmg/ddx372

By:

Rudich, Paige;
Snoznik, Carley;
Watkins, Simon C.;
Monaghan, John;
Pandey, Udai Bhan;
Lamitina, S. Todd

Publication type:

Article

Mutation-specific downregulation of CFTR2 variants by gating potentiators.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4873, doi. 10.1093/hmg/ddx367

By:

Avramescu, Radu G.;
Yukari Kai;
Haijin Xu;
Bidaud-Meynard, Aurélien;
Schnúr, Andrea;
Frenkiel, Saul;
Matouk, Elias;
Veit, Guido;
Lukacs, Gergely L.

Publication type:

Article

Rescue of cell death and inflammation of a mouse model of complex 1-mediated vision loss by repurposed drug molecules.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4929, doi. 10.1093/hmg/ddx373

By:

Yu, Alfred K.;
Datta, Sandipan;
McMackin, Marissa Z.;
Cortopassi, Gino A.

Publication type:

Article

Genetic reduction of Nrf2 exacerbates cognitive deficits in a mouse model of Alzheimer's disease.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4823, doi. 10.1093/hmg/ddx361

By:

Branca, Caterina;
Ferreira, Eric;
Thuy-Vi Nguyen;
Doyle, Kristian;
Caccamo, Antonella;
Oddo, Salvatore

Publication type:

Article

Comparison of the in vivo induction and transmission of α-synuclein pathology by mutant α-synuclein fibril seeds in transgenic mice.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4906, doi. 10.1093/hmg/ddx371

By:

Rutherford, Nicola J.;
Dhillon, Jess-Karan S.;
Riffe, Cara J.;
Howard, Jasie K.;
Brooks, Mieu;
Giasson, Benoit I.

Publication type:

Article

FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4814, doi. 10.1093/hmg/ddx360

By:

Lun Tan;
Zongze Li;
Chengming Zhou;
Yanyan Cao;
Lina Zhang;
Xianqing Li;
Cianflone, Katherine;
Yan Wang;
Dao Wen Wang

Publication type:

Article

Rare germline variants in known melanoma susceptibility genes in familial melanoma.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4886, doi. 10.1093/hmg/ddx368

By:

Goldstein, Alisa M.;
Yanzi Xiao;
Sampson, Joshua;
Bin Zhu;
Rotunno, Melissa;
Bennett, Hunter;
Yixuan Wen;
Jones, Kristine;
Vogt, Aurelie;
Burdette, Laurie;
Wen Luo;
Yeager, Meredith;
Hicks, Belynda;
Jiali Han;
De Vivo, Immaculata;
Koutros, Stella;
Andreotti, Gabriella;
Beane-Freeman, Laura;
Purdue, Mark;
Freedman, Neal D.

Publication type:

Article

Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4861, doi. 10.1093/hmg/ddx364

By:

Valdez, Clarissa;
Wong, Yvette C.;
Schwake, Michael;
Guojun Bu;
Wszolek, Zbigniew K.;
Krainc, Dimitri

Publication type:

Article

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4849, doi. 10.1093/hmg/ddx363

By:

Slavotinek, Anne;
Risolino, Maurizio;
Losa, Marta;
Cho, Megan T.;
Monaghan, Kristin G.;
Schneidman-Duhovny, Dina;
Parisotto, Sarah;
Herkert, Johanna C.;
Stegmann, Alexander P. A.;
Miller, Kathryn;
Shur, Natasha;
Chui, Jacqueline;
Muller, Eric;
DeBrosse, Suzanne;
Szot, Justin O.;
Chapman, Gavin;
Pachter, Nicholas S.;
Winlaw, David S.;
Mendelsohn, Bryce A.;
Dalton, Joline

Publication type:

Article

Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4836, doi. 10.1093/hmg/ddx362

By:

DiStasio, Andrew;
Driver, Ashley;
Sund, Kristen;
Donlin, Milene;
Muraleedharan, Ranjith M.;
Pooya, Shabnam;
Kline-Fath, Beth;
Kaufman, Kenneth M.;
Prows, Cynthia A.;
Schorry, Elizabeth;
Dasgupta, Biplab;
Stottmann, Rolf W.

Publication type:

Article

Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4799, doi. 10.1093/hmg/ddx359

By:

Viswanathan, Meera C.;
Tham, Rick C.;
Kronert, William A.;
Sarsoza, Floyd;
Trujillo, Adriana S.;
Cammarato, Anthony;
Bernstein, Sanford I.

Publication type:

Article

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4765, doi. 10.1093/hmg/ddx350

By:

Youn-Bok Lee;
Baskaran, Pranetha;
Gomez-Deza, Jorge;
Han-Jou Chen;
Nishimura, Agnes L.;
Smith, Bradley N.;
Troakes, Claire;
Adachi, Yoshitsugu;
Stepto, Alan;
Petrucelli, Leonard;
Gallo, Jean-Marc;
Hirth, Frank;
Rogelj, Boris;
Guthrie, Sarah;
Shaw, Christopher E.

Publication type:

Article

Suppression of leptin signaling reduces polyglucosan inclusions and seizure susceptibility in a mouse model for Lafora disease.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 24, p. 4778, doi. 10.1093/hmg/ddx357

By:

Rai, Anupama;
Mishra, Rohit;
Ganesh, Subramaniam

Publication type:

Article