Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 10

Results: 18

Genetic variation associated with circulating monocyte count in the eMERGE Network.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 10, p. 2119, doi. 10.1093/hmg/ddt010

By:

Crosslin, David R.;
McDavid, Andrew;
Weston, Noah;
Xiuwen Zheng;
Hart, Eugene;
de Andrade, Mariza;
Kullo, Iftikhar J.;
McCarty, Catherine A.;
Doheny, Kimberly F.;
Pugh, Elizabeth;
Kho, Abel;
Hayes, M. Geoffrey;
Ritchie, Marylyn D.;
Saip, Alexander;
Crawford, Dana C.;
Crane, Paul K.;
Newton, Katherine;
Carrell, David S.;
Gallego, Carlos J.;
Nails, Michael A.

Publication type:

Article

Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 10, p. 2067, doi. 10.1093/hmg/ddt057

By:

Schultheis, Patrick J.;
Fleming, Sheila M.;
Clippinger, Amy K.;
Lewis, Jada;
Tsunemi, Taiji;
Giasson, Benoit;
Dickson, Dennis W.;
Mazzulli, Joseph R.;
Bardgett, Mark E.;
Haik, Kristi L.;
Ekhator, Osunde;
Chava, Anil Kumar;
Howard, John;
Gannon, Matt;
Hoffman, Elizabeth;
Yinhuai Chen;
Prasad, Vikram;
Linn, Stephen C.;
Tamargo, Rafael J.;
Westbroek, Wendy

Publication type:

Article

A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 10, p. 2105, doi. 10.1093/hmg/ddt060

By:

Watkins, Rachel J.;
Patil, Rajashree;
Goult, Benjamin T.;
Thomas, Mervyn G.;
Gottlob, Irene;
Shackleton, Sue

Publication type:

Article

Absolute pitch exhibits phenotypic and genetic overlap with synesthesia.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 10, p. 2097, doi. 10.1093/hmg/ddt059

By:

Gregersen, Peter K.;
Kowalsky, Elena;
Lee, Annette;
Baron-Cohen, Simon;
Fisher, Simon E.;
Asher, Julian E.;
Ballard, David;
Freudenberg, Jan;
Wentian Li

Publication type:

Article

AF-6 is a positive modulator of the PINK1/parkin pathway and is deficient in Parkinson's disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 10, p. 2083, doi. 10.1093/hmg/ddt058

By:

Haskin, Joseph;
Szargel, Raymonde;
Shani, Vered;
Mekies, Lucy N.;
Rott, Ruth;
Lim, Grace G. Y.;
Lim, Kah-Leong;
Bandopadhyay, Rina;
Wolosker, Herman;
Engelender, Simone

Publication type:

Article

CORRIGENDUM.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 10, p. 2128
Publication type:: Article

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 10, p. 2055, doi. 10.1093/hmg/ddt056

By:

Lionel, Anath C.;
Vaags, Andrea K.;
Sato, Daisuke;
Gazzellone, Matthew J.;
Mitchell, Elyse B.;
Hong Yang Chen;
Costain, Gregory;
Walker, Susan;
Egger, Gerald;
Thiruvahindrapuram, Bhooma;
Merico, Daniele;
Prasad, Aparna;
Anagnostou, Evdokia;
Fombonne, Eric;
Zwaigenbaum, Lonnie;
Roberts, Wendy;
Szatmari, Peter;
Fernandez, Bridget A.;
Georgieva, Lyudmila;
Brzustowicz, Linda M.

Publication type:

Article

The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 10, p. 2024, doi. 10.1093/hmg/ddt054

By:

Leightner, Amanda C.;
Hommerding, Cynthia J.;
Ying Peng;
Salisbury, Jeffrey L.;
Gainullin, Vladimir G.;
Czarnecki, Peter G.;
Sussman, Caroline R.;
Harris, Peter C.

Publication type:

Article

Tuberous sclerosis complex regulates Drosophila neuromuscular junction growth via the TORC2/Akt pathway.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 10, p. 2010, doi. 10.1093/hmg/ddt053

By:

Natarajan, Rajalaxmi;
Trivedi-Vyas, Deepti;
Wairkar, Yogesh P.

Publication type:

Article

Astroglial FMRP-dependent translational down-regulation of mGluRS underlies glutamate transporter GLT1 dysregulation in the fragile X mouse.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 10, p. 2041, doi. 10.1093/hmg/ddt055

By:

Higashimori, Haruki;
Morel, Lydie;
Huth, James;
Lindemann, Lothar;
Dulla, Chris;
Taylor, Amaro;
Freeman, Mike;
Yongjie Yang

Publication type:

Article

TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 10, p. 1983, doi. 10.1093/hmg/ddt051

By:

Milenkovic, Dusanka;
Matic, Stanka;
Kühl, Inge;
Ruzzenente, Benedetta;
Freyer, Christoph;
Jemt, Elisabeth;
Chan Bae Park;
Falkenberg, Maria;
Larsson, Nils-Göran

Publication type:

Article

TFEB regulates lysosomal proteostasis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 10, p. 1994, doi. 10.1093/hmg/ddt052

By:

Wensi Song;
Fan Wang;
Savini, Marzia;
Ake, Ashley;
di Ronza, Alberto;
Sardiello, Marco;
Segatori, Laura

Publication type:

Article

The 3' UTR of FMR1 mRNA is a target of miR-101, miR-129-5p and miR-221: implications for the molecular pathology of FXTAS at the synapse.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 10, p. 1971, doi. 10.1093/hmg/ddt044

By:

Zongaro, Samantha;
Hukema, Renate;
D'Antoni, Simona;
Davidovic, Laetitia;
Barbry, Pascal;
Catania, Maria Vincenza;
Willemsen, Rob;
Mari, Bernard;
Bardoni, Barbara

Publication type:

Article

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 10, p. 1960, doi. 10.1093/hmg/ddt043

By:

Iqbal, Zafar;
Vandeweyer, Geert;
van der Voet, Monique;
Waryah, Ali Muhammad;
Zahoor, Muhammad Yasir;
Besseling, Judith A.;
Roca, Laura Tomas;
Vulto-van Silfhout, Anneke T.;
Nijhof, Bonnie;
Kramer, Jamie M.;
Van der Aa, Nathalie;
Ansar, Muhammad;
Peeters, Hilde;
Helsmoortel, Céline;
Gilissen, Christian;
Vissers, Lisenka E. L. M.;
Veltman, Joris A.;
de Brouwer, Arjan P. M.;
Kooy, R. Frank;
Riazuddin, Sheikh

Publication type:

Article

Over-expression of Neuron-derived Orphan Receptor-1 (NOR-1) exacerbates neointimal hyperplasia after vascular injury.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 10, p. 1949, doi. 10.1093/hmg/ddt042

By:

Rodríguez-Calvo, Ricardo;
Guadall, Anna;
Calvayrac, Olivier;
Navarro, María A.;
Alonso, Judith;
Ferrán, Beatriz;
de Diego, Alicia;
Muniesa, Pedro;
Osada, Jesús;
Rodríguez, Cristina;
Martínez-González, José

Publication type:

Article

Higher risk of death among MEN1 patients with mutations in the JunD interacting domain: a Groupe d'étude des Tumeurs Endocrines (GTE) cohort study.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 10, p. 1940, doi. 10.1093/hmg/ddt039

By:

Thevenon, Julien;
Bourredjem, Abderrahmane;
Faivre, Laurence;
Cardot-Bauters, Catherine;
Calender, Alain;
Murat, Arnaud;
Giraud, Sophie;
Niccoli, Patricia;
Odou, Marie-Françoise;
Borson-Chazot, Françoise;
Barlier, Anne;
Lombard-Bohas, Catherine;
Clauser, Eric;
Tabarin, Antoine;
Parfait, Béatrice;
Chabre, Olivier;
Castermans, Emilie;
Beckers, Albert;
Ruszniewski, Philippe;
Le Bras, Morgane

Publication type:

Article

Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 10, p. 1924, doi. 10.1093/hmg/ddt031

By:

Streets, Andrew J.;
Wessely, Oliver;
Peters, Dorien J. M.;
Ong, Albert C. M.

Publication type:

Article

Zic3 is required in the migrating primitive streak for node morphogenesis and left-right patterning.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 10, p. 1913, doi. 10.1093/hmg/ddt001

By:

Sutherland, Mardi J.;
Shuyun Wang;
Quinn, Malgorzata E.;
Haaning, Allison;
Ware, Stephanie M.

Publication type:

Article