Works matching IS 0964-6906 AND VI 23 AND IP 6 AND DT 2014

Results: 27

CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1669

By:

Rees, Elliott;
Walters, James T.R.;
Chambert, Kimberly D.;
O'Dushlaine, Colm;
Szatkiewicz, Jin;
Richards, Alexander L.;
Georgieva, Lyudmila;
Mahoney-Davies, Gerwyn;
Legge, Sophie E.;
Moran, Jennifer L.;
Genovese, Giulio;
Levinson, Douglas;
Morris, Derek W.;
Cormican, Paul;
Kendler, Kenneth S.;
O'Neill, Francis A.;
Riley, Brien;
Gill, Michael;
Corvin, Aiden;
Sklar, Pamela

Publication type:

Article

Absence of cell surface expression of human ACE leads to perinatal death.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1479, doi. 10.1093/hmg/ddt535

By:

Michaud, Annie;
Acharya, K. Ravi;
Masuyer, Geoffrey;
Quenech'du, Nicole;
Gribouval, Olivier;
Morinière, Vincent;
Gubler, Marie-Claire;
Corvol, Pierre

Publication type:

Article

Allelic heterogeneity in NCF2 associated with systemic lupus erythematosus (SLE) susceptibility across four ethnic populations.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1656

By:

Kim-Howard, Xana;
Sun, Celi;
Molineros, Julio E.;
Maiti, Amit K.;
Chandru, Hema;
Adler, Adam;
Wiley, Graham B.;
Kaufman, Kenneth M.;
Kottyan, Leah;
Guthridge, Joel M.;
Rasmussen, Astrid;
Kelly, Jennifer;
Sánchez, Elena;
Raj, Prithvi;
Li, Quan-Zhen;
Bang, So-Young;
Lee, Hye-Soon;
Kim, Tae-Hwan;
Kang, Young Mo;
Suh, Chang-Hee

Publication type:

Article

SHOX triggers the lysosomal pathway of apoptosis via oxidative stress.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1619, doi. 10.1093/hmg/ddt552

By:

Hristov, Georgi;
Marttila, Tiina;
Durand, Claudia;
Niesler, Beate;
Rappold, Gudrun A.;
Marchini, Antonio

Publication type:

Article

Partial complex I deficiency due to the CNS conditional ablation of Ndufa5 results in a mild chronic encephalopathy but no increase in oxidative damage.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1399, doi. 10.1093/hmg/ddt526

By:

Peralta, Susana;
Torraco, Alessandra;
Wenz, Tina;
Garcia, Sofia;
Diaz, Francisca;
Moraes, Carlos T.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 6, p. NP, doi. 10.1093/hmg/ddu083
Publication type:: Article

Major epigenetic development distinguishing neuronal and non-neuronal cells occurs postnatally in the murine hypothalamus.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1579, doi. 10.1093/hmg/ddt548

By:

Li, Ge;
Zhang, Wenjuan;
Baker, Maria S.;
Laritsky, Eleonora;
Mattan-Hung, Natalia;
Yu, Dahai;
Kunde-Ramamoorthy, Govindarajan;
Simerly, Richard B.;
Chen, Rui;
Shen, Lanlan;
Waterland, Robert A.

Publication type:

Article

The CYP27B1 variant associated with an increased risk of autoimmune disease is underexpressed in tolerizing dendritic cells.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1425

By:

Shahijanian, Fernando;
Parnell, Grant P.;
McKay, Fiona C.;
Gatt, Prudence N.;
Shojoei, Maryam;
O'Connor, Kate S.;
Schibeci, Stephen D.;
Brilot, Fabienne;
Liddle, Christopher;
Batten, Marcel;
Stewart, Graeme J.;
Booth, David R.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 6, p. NP, doi. 10.1093/hmg/ddu085
Publication type:: Article

SIRT2 regulates ciliogenesis and contributes to abnormal centrosome amplification caused by loss of polycystin-1.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1644, doi. 10.1093/hmg/ddt556

By:

Zhou, Xia;
Fan, Lucy X.;
Li, Keguo;
Ramchandran, Ramani;
Calvet, James P.;
Li, Xiaogang

Publication type:

Article

Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1516, doi. 10.1093/hmg/ddt538

By:

Saillour, Yoann;
Broix, Loïc;
Bruel-Jungerman, Elodie;
Lebrun, Nicolas;
Muraca, Giuseppe;
Rucci, Julien;
Poirier, Karine;
Belvindrah, Richard;
Francis, Fiona;
Chelly, Jamel

Publication type:

Article

Abnormal mitochondrial transport and morphology are common pathological denominators in SOD1 and TDP43 ALS mouse models.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1413, doi. 10.1093/hmg/ddt528

By:

Magrané, Jordi;
Cortez, Czrina;
Gan, Wen-Biao;
Manfredi, Giovanni

Publication type:

Article

Dual-tagged amyloid-β precursor protein reveals distinct transport pathways of its N- and C-terminal fragments.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1631, doi. 10.1093/hmg/ddt555

By:

Villegas, Christine;
Muresan, Virgil;
Ladescu Muresan, Zoia

Publication type:

Article

Targeted manipulation of the sortilin–progranulin axis rescues progranulin haploinsufficiency.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1467, doi. 10.1093/hmg/ddt534

By:

Lee, Wing C.;
Almeida, Sandra;
Prudencio, Mercedes;
Caulfield, Thomas R.;
Zhang, Yong-Jie;
Tay, William M.;
Bauer, Peter O.;
Chew, Jeannie;
Sasaguri, Hiroki;
Jansen-West, Karen R.;
Gendron, Tania F.;
Stetler, Caroline T.;
Finch, NiCole;
Mackenzie, Ian R.;
Rademakers, Rosa;
Gao, Fen-Biao;
Petrucelli, Leonard

Publication type:

Article

Distinct roles of TRAF6 at early and late stages of muscle pathology in the mdx model of Duchenne muscular dystrophy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1492, doi. 10.1093/hmg/ddt536

By:

Hindi, Sajedah M.;
Sato, Shuichi;
Choi, Yongwon;
Kumar, Ashok

Publication type:

Article

New Lmna knock-in mice provide a molecular mechanism for the ‘segmental aging’ in Hutchinson–Gilford progeria syndrome†.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1506, doi. 10.1093/hmg/ddt537

By:

Jung, Hea-Jin;
Tu, Yiping;
Yang, Shao H.;
Tatar, Angelica;
Nobumori, Chika;
Wu, Daniel;
Young, Stephen G.;
Fong, Loren G.

Publication type:

Article

Different mtDNA mutations modify tumor progression in dependence of the degree of respiratory complex I impairment.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1453, doi. 10.1093/hmg/ddt533

By:

Iommarini, Luisa;
Kurelac, Ivana;
Capristo, Mariantonietta;
Calvaruso, Maria Antonietta;
Giorgio, Valentina;
Bergamini, Christian;
Ghelli, Anna;
Nanni, Patrizia;
De Giovanni, Carla;
Carelli, Valerio;
Fato, Romana;
Lollini, Pier Luigi;
Rugolo, Michela;
Gasparre, Giuseppe;
Porcelli, Anna Maria

Publication type:

Article

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1538, doi. 10.1093/hmg/ddt541

By:

Michalakis, Stylianos;
Shaltiel, Lior;
Sothilingam, Vithiyanjali;
Koch, Susanne;
Schludi, Verena;
Krause, Stefanie;
Zeitz, Christina;
Audo, Isabelle;
Lancelot, Marie-Elise;
Hamel, Christian;
Meunier, Isabelle;
Preising, Markus N.;
Friedburg, Christoph;
Lorenz, Birgit;
Zabouri, Nawal;
Haverkamp, Silke;
Garrido, Marina Garcia;
Tanimoto, Naoyuki;
Seeliger, Mathias W.;
Biel, Martin

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 6, p. NP, doi. 10.1093/hmg/ddu082
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 6, p. NP, doi. 10.1093/hmg/ddu084
Publication type:: Article

FOXO3 determines the accumulation of α-synuclein and controls the fate of dopaminergic neurons in the substantia nigra.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1435, doi. 10.1093/hmg/ddt530

By:

Pino, Emilda;
Amamoto, Ryoji;
Zheng, Lu;
Cacquevel, Matthias;
Sarria, Juan-Carlos;
Knott, Graham W.;
Schneider, Bernard L.

Publication type:

Article

Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or age.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1606, doi. 10.1093/hmg/ddt551

By:

Mason, Amanda G.;
Tomé, Stephanie;
Simard, Jodie P.;
Libby, Randell T.;
Bammler, Theodor K.;
Beyer, Richard P.;
Morton, A. Jennifer;
Pearson, Christopher E.;
La Spada, Albert R.

Publication type:

Article

Methionine sulfoxide reductase B3 deficiency causes hearing loss due to stereocilia degeneration and apoptotic cell death in cochlear hair cells.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1591, doi. 10.1093/hmg/ddt549

By:

Kwon, Tae-Jun;
Cho, Hyun-Ju;
Kim, Un-Kyung;
Lee, Eujin;
Oh, Se-Kyung;
Bok, Jinwoong;
Bae, Yong Chul;
Yi, Jun-Koo;
Lee, Jang Woo;
Ryoo, Zae-Young;
Lee, Sang Heun;
Lee, Kyu-Yup;
Kim, Hwa-Young

Publication type:

Article

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1602

By:

Losfeld, Marie Estelle;
Ng, Bobby G.;
Kircher, Martin;
Buckingham, Kati J.;
Turner, Emily H.;
Eroshkin, Alexey;
Smith, Joshua D.;
Shendure, Jay;
Nickerson, Deborah A.;
Bamshad, Michael J.;
Freeze, Hudson H.

Publication type:

Article

High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1551, doi. 10.1093/hmg/ddt542

By:

Ketley, Ami;
Chen, Catherine Z.;
Li, Xin;
Arya, Sukrat;
Robinson, Thelma E.;
Granados-Riveron, Javier;
Udosen, Inyang;
Morris, Glenn E.;
Holt, Ian;
Furling, Denis;
Chaouch, Soraya;
Haworth, Ben;
Southall, Noel;
Shinn, Paul;
Zheng, Wei;
Austin, Christopher P.;
Hayes, Christopher J.;
Brook, J. David

Publication type:

Article

Inferring primary tumor sites from mutation spectra: a meta-analysis of histology-specific aberrations in cancer-derived cell lines.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1527, doi. 10.1093/hmg/ddt539

By:

Dietlein, Felix;
Eschner, Wolfgang

Publication type:

Article

Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 6, p. 1563, doi. 10.1093/hmg/ddt547

By:

Zhu, Li;
Wang, Xiaoming;
Li, Xin-Lei;
Towers, Aaron;
Cao, Xinyu;
Wang, Ping;
Bowman, Rachel;
Yang, Hyuna;
Goldstein, Jennifer;
Li, Yi-Ju;
Jiang, Yong-Hui

Publication type:

Article