Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 24

Results: 30

TCF7L2 is a master regulator of insulin production and processing.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6419, doi. 10.1093/hmg/ddu359

By:

Zhou, Yuedan;
Park, Soo-Young;
Su, Jing;
Bailey, Kathleen;
Ottosson-Laakso, Emilia;
Shcherbina, Liliya;
Oskolkov, Nikolay;
Zhang, Enming;
Thevenin, Thomas;
Fadista, João;
Bennet, Hedvig;
Vikman, Petter;
Wierup, Nils;
Fex, Malin;
Rung, Johan;
Wollheim, Claes;
Nobrega, Marcelo;
Renström, Erik;
Groop, Leif;
Hansson, Ola

Publication type:

Article

Functional characterization of FABP3, 5 and 7 gene variants identified in schizophrenia and autism spectrum disorder and mouse behavioral studies.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6495, doi. 10.1093/hmg/ddu369

By:

Shimamoto, Chie;
Ohnishi, Tetsuo;
Maekawa, Motoko;
Watanabe, Akiko;
Ohba, Hisako;
Arai, Ryoichi;
Iwayama, Yoshimi;
Hisano, Yasuko;
Toyota, Tomoko;
Toyoshima, Manabu;
Suzuki, Katsuaki;
Shirayama, Yukihiko;
Nakamura, Kazuhiko;
Mori, Norio;
Owada, Yuji;
Kobayashi, Tetsuyuki;
Yoshikawa, Takeo

Publication type:

Article

Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6659, doi. 10.1093/hmg/ddu374

By:

Hong, Kyung-Won;
Lim, Ji Eun;
Kim, Jong Wook;
Tabara, Yasuharu;
Ueshima, Hirotsugu;
Miki, Tetsuro;
Matsuda, Fumihiko;
Cho, Yoon Shin;
Kim, Yeonjung;
Oh, Bermseok

Publication type:

Article

De novo CNVs in bipolar affective disorder and schizophrenia.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6677, doi. 10.1093/hmg/ddu379

By:

Georgieva, Lyudmila;
Rees, Elliott;
Moran, Jennifer L.;
Chambert, Kimberly D.;
Milanova, Vihra;
Craddock, Nicholas;
Purcell, Shaun;
Sklar, Pamela;
McCarroll, Steven;
Holmans, Peter;
O'Donovan, Michael C.;
Owen, Michael J.;
Kirov, George

Publication type:

Article

Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6616, doi. 10.1093/hmg/ddu363

By:

Wang, Zhaoming;
Zhu, Bin;
Zhang, Mingfeng;
Parikh, Hemang;
Jia, Jinping;
Chung, Charles C.;
Sampson, Joshua N.;
Hoskins, Jason W.;
Hutchinson, Amy;
Burdette, Laurie;
Ibrahim, Abdisamad;
Hautman, Christopher;
Raj, Preethi S.;
Abnet, Christian C.;
Adjei, Andrew A.;
Ahlbom, Anders;
Albanes, Demetrius;
Allen, Naomi E.;
Ambrosone, Christine B.;
Aldrich, Melinda

Publication type:

Article

Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6607, doi. 10.1093/hmg/ddu361

By:

Du, Mengmeng;
Auer, Paul L.;
Jiao, Shuo;
Haessler, Jeffrey;
Altshuler, David;
Boerwinkle, Eric;
Carlson, Christopher S.;
Carty, Cara L.;
Chen, Yii-Der Ida;
Curtis, Keith;
Franceschini, Nora;
Hsu, Li;
Jackson, Rebecca;
Lange, Leslie A.;
Lettre, Guillaume;
Monda, Keri L.;
Nickerson, Deborah A.;
Reiner, Alex P.;
Rich, Stephen S.;
Rosse, Stephanie A.

Publication type:

Article

Oxaloacetate activates brain mitochondrial biogenesis, enhances the insulin pathway, reduces inflammation and stimulates neurogenesis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6528, doi. 10.1093/hmg/ddu371

By:

Wilkins, Heather M.;
Harris, Janna L.;
Carl, Steven M.;
E, Lezi;
Lu, Jianghua;
Eva Selfridge, J.;
Roy, Nairita;
Hutfles, Lewis;
Koppel, Scott;
Morris, Jill;
Burns, Jeffrey M.;
Michaelis, Mary L.;
Michaelis, Elias K.;
Brooks, William M.;
Swerdlow, Russell H.

Publication type:

Article

A calcineurin- and NFAT-dependent pathway is involved in α-synuclein-induced degeneration of midbrain dopaminergic neurons.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6567, doi. 10.1093/hmg/ddu377

By:

Luo, Jing;
Sun, Lixin;
Lin, Xian;
Liu, Guoxiang;
Yu, Jia;
Parisiadou, Loukia;
Xie, Chengsong;
Ding, Jinhui;
Cai, Huaibin

Publication type:

Article

Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6684, doi. 10.1093/hmg/ddu386

By:

Kwan, Johnny S.H.;
Hsu, Yi-Hsiang;
Cheung, Ching-Lung;
Dupuis, Josée;
Saint-Pierre, Aude;
Eriksson, Joel;
Handelman, Samuel K.;
Aragaki, Aaron;
Karasik, David;
Pramstaller, Peter P.;
Kooperberg, Charles;
Lacroix, Andrea Z.;
Larson, Martin G.;
Lau, Kam-Shing;
Lorentzon, Mattias;
Pichler, Irene;
Sham, Pak C.;
Taliun, Daniel;
Vandenput, Liesbeth;
Kiel, Douglas P.

Publication type:

Article

Heterozygous deletion of the Williams–Beuren syndrome critical interval in mice recapitulates most features of the human disorder.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6481, doi. 10.1093/hmg/ddu368

By:

Segura-Puimedon, Maria;
Sahún, Ignasi;
Velot, Emilie;
Dubus, Pierre;
Borralleras, Cristina;
Rodrigues, Ana J.;
Valero, María C.;
Valverde, Olga;
Sousa, Nuno;
Herault, Yann;
Dierssen, Mara;
Pérez-Jurado, Luis A.;
Campuzano, Victoria

Publication type:

Article

Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6458, doi. 10.1093/hmg/ddu366

By:

Hathout, Yetrib;
Marathi, Ramya L.;
Rayavarapu, Sree;
Zhang, Aiping;
Brown, Kristy J.;
Seol, Haeri;
Gordish-Dressman, Heather;
Cirak, Sebahattin;
Bello, Luca;
Nagaraju, Kanneboyina;
Partridge, Terry;
Hoffman, Eric P.;
Takeda, Shin'ichi;
Mah, Jean K.;
Henricson, Erik;
McDonald, Craig

Publication type:

Article

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6432

By:

Raimondo, Anne;
Chakera, Ali J.;
Thomsen, Soren K.;
Colclough, Kevin;
Barrett, Amy;
De Franco, Elisa;
Chatelas, Alisson;
Demirbilek, Huseyin;
Akcay, Teoman;
Alawneh, Hussein;
Flanagan, Sarah E.;
Van De Bunt, Martijn;
Hattersley, Andrew T.;
Gloyn, Anna L.;
Ellard, Sian

Publication type:

Article

Polycomb group complexes are recruited to reactivated FMR1 alleles in Fragile X syndrome in response to FMR1 transcription.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6575, doi. 10.1093/hmg/ddu378

By:

Kumari, Daman;
Usdin, Karen

Publication type:

Article

Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6634, doi. 10.1093/hmg/ddu364

By:

Hoffmann, Thomas J.;
Tang, Hua;
Thornton, Timothy A.;
Caan, Bette;
Haan, Mary;
Millen, Amy E.;
Thomas, Fridtjof;
Risch, Neil

Publication type:

Article

Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6668, doi. 10.1093/hmg/ddu375

By:

Sano, Motoaki;
Kamitsuji, Shigeo;
Kamatani, Naoyuki;
Hong, Kyung-Won;
Han, Bok-Ghee;
Kim, Yeonjung;
Kim, Jong Wook;
Aizawa, Yoshiyasu;
Fukuda, Keiichi

Publication type:

Article

Selective demethylation and altered gene expression are associated with ICF syndrome in human-induced pluripotent stem cells and mesenchymal stem cells.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6448, doi. 10.1093/hmg/ddu365

By:

Huang, Kevin;
Wu, Zhourui;
Liu, Zhenshan;
Hu, Ganlu;
Yu, Juehua;
Chang, Kai H.;
Kim, Kee-Pyo;
Le, Thuc;
Faull, Kym F.;
Rao, Nagesh;
Gennery, Andrew;
Xue, Zhigang;
Wang, Cun-yu;
Pellegrini, Matteo;
Fan, Guoping

Publication type:

Article

Deficiency of Patched 1-induced Gli1 signal transduction results in astrogenesis in Swedish mutated APP transgenic mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6512

By:

He, Ping;
Staufenbiel, Matthias;
Li, Rena;
Shen, Yong

Publication type:

Article

Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6695, doi. 10.1093/hmg/ddu496

By:

Yasui, Dag H.;
Gonzales, Michael L.;
Aflatooni, Justin O.;
Crary, Florence K.;
Hu, Daniel J.;
Gavino, Bryant J.;
Golub, Mari S.;
Vincent, John B.;
Schanen, N. Carolyn;
Olson, Carl O.;
Rastegar, Mojgan;
Lasalle, Janine M.

Publication type:

Article

Competing targets of microRNA-608 affect anxiety and hypertension.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6694, doi. 10.1093/hmg/ddu495

By:

Hanin, Geula;
Shenhar-Tsarfaty, Shani;
Yayon, Nadav;
Yau, Yin Hoe;
Bennett, Estelle R.;
Sklan, Ella H.;
Rao, Dabeeru C.;
Rankinen, Tuomo;
Bouchard, Claude;
Geifman-Shochat, Susana;
Shifman, Sagiv;
Greenberg, David S.;
Soreq, Hermona

Publication type:

Article

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6584, doi. 10.1093/hmg/ddu384

By:

Patel, Nisha;
Smith, Laura L.;
Faqeih, Eissa;
Mohamed, Jawahir;
Gupta, Vandana A.;
Alkuraya, Fowzan S.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 24, p. NP, doi. 10.1093/hmg/ddu592
Publication type:: Article

The ras responsive transcription factor RREB1 is a novel candidate gene for type 2 diabetes associated end-stage kidney disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6441, doi. 10.1093/hmg/ddu362

By:

Bonomo, Jason A.;
Guan, Meijian;
Ng, Maggie C.Y.;
Palmer, Nicholette D.;
Hicks, Pamela J.;
Keaton, Jacob M.;
Lea, Janice P.;
Langefeld, Carl D.;
Freedman, Barry I.;
Bowden, Donald W.

Publication type:

Article

Epigallocatechin-3-gallate and tetracycline differently affect ataxin-3 fibrillogenesis and reduce toxicity in spinocerebellar ataxia type 3 model.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6542, doi. 10.1093/hmg/ddu373

By:

Bonanomi, Marcella;
Natalello, Antonino;
Visentin, Cristina;
Pastori, Valentina;
Penco, Amanda;
Cornelli, Giuseppina;
Colombo, Giorgio;
Malabarba, Maria G.;
Doglia, Silvia M.;
Relini, Annalisa;
Regonesi, Maria E.;
Tortora, Paolo

Publication type:

Article

SUCLG2 identified as both a determinator of CSF Aβ1–42 levels and an attenuator of cognitive decline in Alzheimer's disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6644

By:

Ramirez, Alfredo;
van der Flier, Wiesje M.;
Herold, Christine;
Ramonet, David;
Heilmann, Stefanie;
Lewczuk, Piotr;
Popp, Julius;
Lacour, André;
Drichel, Dmitriy;
Louwersheimer, Eva;
Kummer, Markus P.;
Cruchaga, Carlos;
Hoffmann, Per;
Teunissen, Charlotte;
Holstege, Henne;
Kornhuber, Johannes;
Peters, Oliver;
Naj, Adam C.;
Chouraki, Vincent;
Bellenguez, Céline

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 24, p. NP, doi. 10.1093/hmg/ddu593
Publication type:: Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 24, p. NP, doi. 10.1093/hmg/ddu590
Publication type:: Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 24, p. NP, doi. 10.1093/hmg/ddu591
Publication type:: Article

Exploiting the interaction between Grp94 and aggregated myocilin to treat glaucoma.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6470, doi. 10.1093/hmg/ddu367

By:

Stothert, Andrew R.;
Suntharalingam, Amirthaa;
Huard, Dustin J. E.;
Fontaine, Sarah N.;
Crowley, Vincent M.;
Mishra, Sanket;
Blagg, Brian S. J.;
Lieberman, Raquel L.;
Dickey, Chad A.

Publication type:

Article

The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6594, doi. 10.1093/hmg/ddu385

By:

Athanasiou, Dimitra;
Bevilacqua, Dalila;
Aguila, Monica;
McCulley, Caroline;
Kanuga, Naheed;
Iwawaki, Takao;
Paul Chapple, J.;
Cheetham, Michael E.

Publication type:

Article

New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 24, p. 6553, doi. 10.1093/hmg/ddu376

By:

Inoue, Shin-ichi;
Moriya, Mitsuji;
Watanabe, Yusuke;
Miyagawa-Tomita, Sachiko;
Niihori, Tetsuya;
Oba, Daiju;
Ono, Masao;
Kure, Shigeo;
Ogura, Toshihiko;
Matsubara, Yoichi;
Aoki, Yoko

Publication type:

Article