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

Results: 19

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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