Works matching IS 09646906 AND DT 2017 AND VI 26

Results: 445

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

Activating the unfolded protein response in osteocytes causes hyperostosis consistent with craniodiaphyseal dysplasia.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4572, doi. 10.1093/hmg/ddx339

By:

Chan, Wilson Cheuk Wing;
Kwok Yeung Tsang;
Yin Wo Cheng;
Ng, Vivian Chor Wing;
Chik, Halina;
Zhi Jia Tan;
Boot-Handford, Raymond;
Boyde, Alan;
Cheung, Kenneth Man Chee;
Cheah, Kathryn Song Eng;
Chan, Danny

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

Discovery of susceptibility loci associated with tuberculosis in Han Chinese.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4752, doi. 10.1093/hmg/ddx365

By:

Hui Qi;
Yong-Biao Zhang;
Lin Sun;
Cheng Chen;
Biao Xu;
Fang Xu;
Jia-Wen Liu;
Jin-Cheng Liu;
Chen Chen;
Wei-Wei Jiao;
Chen Shen;
Jing Xiao;
Jie-Qiong Li;
Ya-Jie Guo;
Yong-Hong Wang;
Qin-Jing Li;
Qing-Qin Yin;
Ying-Jia Li;
Ting Wang;
Xing-Yun Wang

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

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.

Published in:: Human Molecular Genetics, 2017, v. 26, n. 23, p. 4764, doi. 10.1093/hmg/ddx376
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

A mutation in IFT43 causes non-syndromic recessive retinal degeneration.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4741, doi. 10.1093/hmg/ddx356

By:

Biswas, Pooja;
Duncan, Jacque L.;
Ali, Muhammad;
Hiroko Matsui;
Naeem, Muhammad Asif;
Raghavendra, Pongali B.;
Frazer, Kelly A.;
Arts, Heleen H.;
Riazuddin, Sheikh;
Akram, Javed;
Hejtmancik, J. Fielding;
Riazuddin, S. Amer;
Ayyagari, Radha

Publication type:

Article

A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4680, doi. 10.1093/hmg/ddx349

By:

Duplomb, Laurence;
Droin, Nathalie;
Bouchot, Olivier;
Thauvin-Robinet, Christel;
Bruel, Ange-Line;
Thevenon, Julien;
Callier, Patrick;
Meurice, Guillaume;
Pata-Merci, Noémie;
Loffroy, Romaric;
Vandroux, David;
Costa, Romain D. A.;
Carmignac, Virginie;
Solary, Eric;
Faivre, Laurence

Publication type:

Article

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4657, doi. 10.1093/hmg/ddx347

By:

Srivastava, Shalabh;
Ramsbottom, Simon A.;
Molinari, Elisa;
Alkanderi, Sumaya;
Filby, Andrew;
White, Kathryn;
Henry, Charline;
Saunier, Sophie;
Miles, Colin G.;
Sayer, John A.

Publication type:

Article

Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4728, doi. 10.1093/hmg/ddx355

By:

Katrancha, Sara M.;
Yi Wu;
Minsheng Zhu;
Eipper, Betty A.;
Koleske, Anthony J.;
Mains, Richard E.

Publication type:

Article

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4689, doi. 10.1093/hmg/ddx351

By:

Theil, Arjan F.;
Mandemaker, Imke K.;
van den Akker, Emile;
Swagemakers, Sigrid M. A.;
Raams, Anja;
Wüst, Tatjana;
Marteijn, Jurgen A.;
Giltay, Jacques C.;
Colombijn, Richard M.;
Moog, Ute;
Kotzaeridou, Urania;
Ghazvini, Mehrnaz;
von Lindern, Marieke;
Hoeijmakers, Jan H. J.;
Jaspers, Nicolaas G. J.;
van der Spek, Peter J.;
Vermeulen, Wim

Publication type:

Article

A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4699, doi. 10.1093/hmg/ddx352

By:

Guarnieri, Fabrizia C.;
Pozzi, Davide;
Raimondi, Andrea;
Fesce, Riccardo;
Valente, Maria M.;
Delvecchio, Vincenza S.;
Van Esch, Hilde;
Matteoli, Michela;
Benfenati, Fabio;
D'Adamo, Patrizia;
Valtorta, Flavia

Publication type:

Article

Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in mice.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4715, doi. 10.1093/hmg/ddx354

By:

Shin-Ichi Inoue;
Shingo Takahara;
Takeo Yoshikawa;
Tetsuya Niihori;
Kazuhiko Yanai;
Yoichi Matsubara;
Yoko Aoki

Publication type:

Article

The mitochondrial metallochaperone SCO1 maintains CTR1 at the plasma membrane to preserve copper homeostasis in the murine heart.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4617, doi. 10.1093/hmg/ddx344

By:

Baker, Zakery N.;
Jett, Kimberly;
Boulet, Aren;
Hossain, Amzad;
Cobine, Paul A.;
Byung-Eun Kim;
El Zawily, Amr M.;
Ling Lee;
Tibbits, Glen F.;
Petris, Michael J.;
Leary, Scot C.

Publication type:

Article

Heterozygous loss of TSC2 alters p53 signaling and human stem cell reprogramming.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4629, doi. 10.1093/hmg/ddx345

By:

Armstrong, Laura C.;
Westlake, Grant;
Snow, John P.;
Cawthon, Bryan;
Armour, Eric;
Bowman, Aaron B.;
Ess, Kevin C.

Publication type:

Article

Loss of the imprinted, non-coding Snord116 gene cluster in the interval deleted in the Prader Willi syndrome results in murine neuronal and endocrine pancreatic developmental phenotypes.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4606, doi. 10.1093/hmg/ddx342

By:

Burnett, Lisa Cole;
Hubner, Gabriela;
LeDuc, Charles A.;
Morabito, Michael V.;
Carli, Jayne F. Martin;
Leibel, Rudolph L.

Publication type:

Article

Amyotrophic lateral sclerosis-associated mutant SOD1 inhibits anterograde axonal transport of mitochondria by reducing Miro1 levels.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4668, doi. 10.1093/hmg/ddx348

By:

Moller, Annekathrin;
Bauer, Claudia S.;
Cohen, Rebecca N.;
Webster, Christopher P.;
De Vos, Kurt J.

Publication type:

Article

Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4588, doi. 10.1093/hmg/ddx341

By:

Siegmund, Stephanie E.;
Hua Yang;
Sharma, Rohit;
Javors, Martin;
Skinner, Owen;
Mootha, Vamsi;
Hirano, Michio;
Schon, Eric A.

Publication type:

Article

Pyroglutamate-amyloid-β peptide expression in Drosophila leads to caspase-dependent and endoplasmic reticulum stress-related progressive neurodegeneration.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4642, doi. 10.1093/hmg/ddx346

By:

Leo Tsuda;
Yasuhiro Omata;
Yasutoyo Yamasaki;
Ryunosuke Minami;
Young-Mi Lim

Publication type:

Article

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4556, doi. 10.1093/hmg/ddx335

By:

Palencia-Campos, Adrian;
Ullah, Asmat;
Nevado, Julian;
Yıldırım, Ruken;
Unal, Edip;
Ciorraga, Maria;
Barruz, Pilar;
Chico, Lucia;
Piceci-Sparascio, Francesca;
Guida, Valentina;
De Luca, Alessandro;
Kayserili, Hülya;
Ullah, Irfan;
Burmeister, Margit;
Lapunzina, Pablo;
Ahmad, Wasim;
Morales, Aixa V.;
Ruiz-Perez, Victor L.

Publication type:

Article

LRRK2 interacts with ATM and regulates Mdm2-p53 cell proliferation axis in response to genotoxic stress.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 22, p. 4495, doi. 10.1093/hmg/ddx337

By:

Zhongcan Chen;
Zhen Cao;
Wei Zhang;
Minxia Gu;
Zhi Dong Zhou;
Baojie Li;
Jing Li;
Eng King Tan;
Li Zeng

Publication type:

Article

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

Published in:: Human Molecular Genetics, 2017, v. 26, n. 22, p. 4540, doi. 10.1093/hmg/ddx353
Publication type:: Article

Modeling prior information of common genetic variants improves gene discovery for neuroticism.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 22, p. 4530, doi. 10.1093/hmg/ddx340

By:

Min-Tzu Lo;
Yunpeng Wang;
Kauppi, Karolina;
Sanyal, Nilotpal;
Chun-Chieh Fan;
Smeland, Olav B.;
Schork, Andrew;
Holland, Dominic;
Hinds, David A.;
Tung, Joyce Y.;
Andreassen, Ole A.;
Dale, Anders M.;
Chi-Hua Chen

Publication type:

Article

Pseudoexfoliation and Alzheimer's associated CLU risk variant, rs2279590, lies within an enhancer element and regulates CLU, EPHX2 and PTK2B gene expression.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 22, p. 4519, doi. 10.1093/hmg/ddx329

By:

Padhy, Biswajit;
Hayat, Bushra;
Nanda, Gargi Gouranga;
Mohanty, Pranjya Paramita;
Alone, Debasmita Pankaj

Publication type:

Article

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 22, p. 4506, doi. 10.1093/hmg/ddx338

By:

Curiel, Julian;
Bey, Guillermo Rodríguez;
Asako Takanohashi;
Bugiani, Marianna;
Xiaoqin Fu;
Wolf, Nicole I.;
Nmezi, Bruce;
Schiffmann, Raphael;
Bugaighis, Mona;
Pierson, Tyler;
Helman, Guy;
Simons, Cas;
van der Knaap, Marjo S.;
Liu, Judy;
Padiath, Quasar;
Vanderver, Adeline

Publication type:

Article

In vitro characterization of mitochondrial function and structure in rat and human cells with a deficiency of the NADH: ubiquinone oxidoreductase Ndufc2 subunit.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 23, p. 4541, doi. 10.1093/hmg/ddx333

By:

Raffa, Salvatore;
Scrofani, Cristina;
Valente, Sabatino;
Micaloni, Andrea;
Forte, Maurizio;
Bianchi, Franca;
Coluccia, Roberta;
Geurts, Aron M.;
Sciarretta, Sebastiano;
Volpe, Massimo;
Torrisi, Maria Rosaria;
Rubattu, Speranza

Publication type:

Article

SETD6 dominant negative mutation in familial colorectal cancer type X.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 22, p. 4481, doi. 10.1093/hmg/ddx336

By:

Martín-Morales, Lorena;
Feldman, Michal;
Vershinin, Zlata;
Garre, Pilar;
Caldés, Trinidad;
Levy, Dan

Publication type:

Article

Liver-directed gene therapy for murine glycogen storage disease type Ib.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 22, p. 4395, doi. 10.1093/hmg/ddx325

By:

Joon Hyun Kwon;
Young Mok Lee;
Jun-Ho Cho;
Goo-Young Kim;
Anduaga, Javier;
Starost, Matthew F.;
Mansfield, Brian C.;
Chou, Janice Y.

Publication type:

Article

A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 22, p. 4367, doi. 10.1093/hmg/ddx322

By:

Manes, Gaël;
Joly, Willy;
Guignard, Thomas;
Smirnov, Vasily;
Berthemy, Sylvie;
Bocquet, Béatrice;
Audo, Isabelle;
Zeitz, Christina;
Sahel, José;
Cazevieille, Chantal;
Sénéchal, Audrey;
Deleuze, Jean-François;
Blanché-Koch, Hélène;
Boland, Anne;
Carroll, Patrick;
Geneviève, David;
Zanlonghi, Xavier;
Arndt, Carl;
Hamel, Christian P.;
Defoort-Dhellemmes, Sabine

Publication type:

Article

The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 22, p. 4465, doi. 10.1093/hmg/ddx334

By:

Sacristan-Reviriego, Almudena;
Bellingham, James;
Prodromou, Chrisostomos;
Kumaran, Neruban;
Bainbridge, James;
Michaelides, Michel;
van der Spuy, Jacqueline

Publication type:

Article

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4301, doi. 10.1093/hmg/ddx328

By:

Dand, Nick;
Mucha, Sören;
Tsoi, Lam C.;
Mahil, Satveer K.;
Stuart, Philip E.;
Arnold, Andreas;
Baurecht, Hansjörg;
Burden, A. David;
Duffin, Kristina Callis;
Chandran, Vinod;
Curtis, Charles J.;
Barker, Jonathan N.

Publication type:

Article

Peptides of the variable IgG domain as potential biomarker candidates in primary open-angle glaucoma (POAG).

Published in:

Human Molecular Genetics, 2017, v. 26, n. 22, p. 4451, doi. 10.1093/hmg/ddx332

By:

Schmelter, Carsten;
Perumal, Natarajan;
Funke, Sebastian;
Bell, Katharina;
Pfeiffer, Norbert;
Grus, Franz H.

Publication type:

Article

Alpha-synuclein induces the unfolded protein response in Parkinson's disease SNCA triplication iPSC-derived neurons.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 22, p. 4441, doi. 10.1093/hmg/ddx331

By:

Heman-Ackah, Sabrina M.;
Manzano, Raquel;
Hoozemans, Jeroen J. M.;
Scheper, Wiep;
Flynn, Rowan;
Haerty, Wilfried;
Cowley, Sally A.;
Bassett, Andrew R.;
Wood, Matthew J. A.

Publication type:

Article

PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 22, p. 4429, doi. 10.1093/hmg/ddx330

By:

Tatsuo Miyamoto;
Silvia Natsuko Akutsu;
Akihiro Fukumitsu;
Hiroyuki Morino;
Yoshinori Masatsuna;
Kosuke Hosoba;
Hideshi Kawakami;
Takashi Yamamoto;
Kenji Shimizu;
Hirofumi Ohashi;
Shinya Matsuura

Publication type:

Article