Works in Human Molecular Genetics, 2014, Vol 23, Issue 14

Results: 29

Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3865, doi. 10.1093/hmg/ddu101

By:

Di Nardo, Alessia;
Wertz, Mary H.;
Kwiatkowski, Erica;
Tsai, Peter T.;
Leech, Jarrett D.;
Greene-Colozzi, Emily;
Goto, June;
Dilsiz, Pelin;
Talos, Delia M.;
Clish, Clary B.;
Kwiatkowski, David J.;
Sahin, Mustafa

Publication type:

Article

CtIP mediates replication fork recovery in a FANCD2-regulated manner.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3695, doi. 10.1093/hmg/ddu078

By:

Yeo, Jung Eun;
Lee, Eu Han;
Hendrickson, Eric A.;
Sobeck, Alexandra

Publication type:

Article

The ALS gene FUS regulates synaptic transmission at the Drosophila neuromuscular junction.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3810, doi. 10.1093/hmg/ddu094

By:

Machamer, James B.;
Collins, Sarah E.;
Lloyd, Thomas E.

Publication type:

Article

A piggyBac insertion disrupts Foxl2 expression that mimics BPES syndrome in mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3792, doi. 10.1093/hmg/ddu092

By:

Shi, Fubiao;
Ding, Sheng;
Zhao, Shimin;
Han, Min;
Zhuang, Yuan;
Xu, Tian;
Wu, Xiaohui

Publication type:

Article

Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3843, doi. 10.1093/hmg/ddu097

By:

Grasso, Francesca;
Giacomini, Elisa;
Sanchez, Massimo;
Degan, Paolo;
Gismondi, Viviana;
Mazzei, Filomena;
Varesco, Liliana;
Viel, Alessandra;
Bignami, Margherita

Publication type:

Article

DLX5, FGF8 and the Pin1 isomerase control ΔNp63α protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3830, doi. 10.1093/hmg/ddu096

By:

Restelli, Michela;
Lopardo, Teresa;
Lo Iacono, Nadia;
Garaffo, Giulia;
Conte, Daniele;
Rustighi, Alessandra;
Napoli, Marco;
Del Sal, Giannino;
Perez-Morga, David;
Costanzo, Antonio;
Merlo, Giorgio Roberto;
Guerrini, Luisa

Publication type:

Article

Statistical insights into major human muscular diseases.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3772, doi. 10.1093/hmg/ddu090

By:

Gupta, Shakti;
Kim, Sung-Min;
Wang, Yu;
Dinasarapu, Ashok Reddy;
Subramaniam, Shankar

Publication type:

Article

Methylene blue upregulates Nrf2/ARE genes and prevents tau-related neurotoxicity.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3716, doi. 10.1093/hmg/ddu080

By:

Stack, Cliona;
Jainuddin, Shari;
Elipenahli, Ceyhan;
Gerges, Meri;
Starkova, Natalia;
Starkov, Anatoly A.;
Jové, Mariona;
Portero-Otin, Manuel;
Launay, Nathalie;
Pujol, Aurora;
Kaidery, Navneet Ammal;
Thomas, Bobby;
Tampellini, Davide;
Beal, M. Flint;
Dumont, Magali

Publication type:

Article

Histone deacetylase 3 modulates Tbx5 activity to regulate early cardiogenesis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3801, doi. 10.1093/hmg/ddu093

By:

Lewandowski, Sara L.;
Janardhan, Harish P.;
Smee, Kevin M.;
Bachman, Marcos;
Sun, Zheng;
Lazar, Mitchell A.;
Trivedi, Chinmay M.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 14, p. NP, doi. 10.1093/hmg/ddu324
Publication type:: Article

Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3883, doi. 10.1093/hmg/ddu076

By:

Stickel, Felix;
Buch, Stephan;
Zoller, Heinz;
Hultcrantz, Rolf;
Gallati, Sabina;
Österreicher, Christoph;
Finkenstedt, Armin;
Stadlmayr, Andreas;
Aigner, Elmar;
Sahinbegovic, Enijad;
Sarrazin, Christoph;
Schafmayer, Clemens;
Braun, Felix;
Erhart, Wiebke;
Nothnagel, Michael;
Lerch, Markus M.;
Mayerle, Julia;
Völzke, Henry;
Schaller, André;
Kratzer, Wolfgang

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 14, p. NP, doi. 10.1093/hmg/ddu325
Publication type:: Article

Induced pluripotent stem cells as a model for telomeric abnormalities in ICF type I syndrome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3629, doi. 10.1093/hmg/ddu071

By:

Sagie, Shira;
Ellran, Erika;
Katzir, Hagar;
Shaked, Rony;
Yehezkel, Shiran;
Laevsky, Ilana;
Ghanayim, Alaa;
Geiger, Dan;
Tzukerman, Maty;
Selig, Sara

Publication type:

Article

Forced expression of DNA methyltransferases during oocyte growth accelerates the establishment of methylation imprints but not functional genomic imprinting.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3853, doi. 10.1093/hmg/ddu100

By:

Hara, Satoshi;
Takano, Takashi;
Fujikawa, Tsugunari;
Yamada, Munehiro;
Wakai, Takuya;
Kono, Tomohiro;
Obata, Yayoi

Publication type:

Article

Respiratory failure, cleft palate and epilepsy in the mouse model of human Xq22.1 deletion syndrome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3823, doi. 10.1093/hmg/ddu095

By:

Zhou, Jian;
Goldberg, Ethan M.;
Leu, N. Adrian;
Zhou, Lei;
Coulter, Douglas A.;
Wang, P. Jeremy

Publication type:

Article

Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3891, doi. 10.1093/hmg/ddu086

By:

Foo, Jia Nee;
Tan, Louis C.;
Liany, Herty;
Koh, Tat Hung;
Irwan, Ishak D.;
Ng, Yen Yek;
Ahmad-Annuar, Azlina;
Au, Wing-Lok;
Aung, Tin;
Chan, Anne Y.Y.;
Chong, Siow-Ann;
Chung, Sun Ju;
Jung, Yusun;
Khor, Chiea Chuen;
Kim, Juyeon;
Lee, Jimmy;
Lim, Shen-Yang;
Mok, Vincent;
Prakash, Kumar-M.;
Song, Kyuyoung

Publication type:

Article

CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3759, doi. 10.1093/hmg/ddu089

By:

Pellissier, Lucie P.;
Lundvig, Ditte M. S.;
Tanimoto, Naoyuki;
Klooster, Jan;
Vos, Rogier M.;
Richard, Fabrice;
Sothilingam, Vithiyanjali;
Garcia Garrido, Marina;
Le Bivic, André;
Seeliger, Mathias W.;
Wijnholds, Jan

Publication type:

Article

Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3746, doi. 10.1093/hmg/ddu088

By:

Bianchini, Elisa;
Fanin, Marina;
Mamchaoui, Kamel;
Betto, Romeo;
Sandonà, Dorianna

Publication type:

Article

Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3657, doi. 10.1093/hmg/ddu074

By:

Bashamboo, Anu;
Brauner, Raja;
Bignon-Topalovic, Joelle;
Lortat-Jacob, Stephen;
Karageorgou, Vasiliki;
Lourenco, Diana;
Guffanti, Alessandro;
McElreavey, Ken

Publication type:

Article

Aberrant cell cycle reentry in human and experimental inclusion body myositis and polymyositis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3681, doi. 10.1093/hmg/ddu077

By:

Kwon, Bumsup;
Kumar, Pravir;
Lee, Han-Kyu;
Zeng, Ling;
Walsh, Kenneth;
Fu, Qinghao;
Barakat, Amey;
Querfurth, Henry W.

Publication type:

Article

Contesting the dogma of an age-related heat shock response impairment: implications for cardiac-specific age-related disorders.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3641, doi. 10.1093/hmg/ddu073

By:

Carnemolla, Alisia;
Labbadia, John P.;
Lazell, Hayley;
Neueder, Andreas;
Moussaoui, Saliha;
Bates, Gillian P.

Publication type:

Article

Estimating the heritability of colorectal cancer.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3898, doi. 10.1093/hmg/ddu087

By:

Jiao, Shuo;
Peters, Ulrike;
Berndt, Sonja;
Brenner, Hermann;
Butterbach, Katja;
Caan, Bette J.;
Carlson, Christopher S.;
Chan, Andrew T.;
Chang-Claude, Jenny;
Chanock, Stephen;
Curtis, Keith R.;
Duggan, David;
Gong, Jian;
Harrison, Tabitha A.;
Hayes, Richard B.;
Henderson, Brian E.;
Hoffmeister, Michael;
Kolonel, Laurence N.;
Marchand, Loic Le;
Potter, John D.

Publication type:

Article

The histone deacetylase HDAC3 is essential for Purkinje cell function, potentially complicating the use of HDAC inhibitors in SCA1.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3733, doi. 10.1093/hmg/ddu081

By:

Venkatraman, Anand;
Hu, Yuan-Shih;
Didonna, Alessandro;
Cvetanovic, Marija;
Krbanjevic, Aleksandar;
Bilesimo, Patrice;
Opal, Puneet

Publication type:

Article

β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3875, doi. 10.1093/hmg/ddu103

By:

Clarkson, Yvonne L.;
Perkins, Emma M.;
Cairncross, Callum J.;
Lyndon, Alastair R.;
Skehel, Paul A.;
Jackson, Mandy

Publication type:

Article

Rbm20-deficient cardiogenesis reveals early disruption of RNA processing and sarcomere remodeling establishing a developmental etiology for dilated cardiomyopathy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3779, doi. 10.1093/hmg/ddu091

By:

Beraldi, Rosanna;
Li, Xing;
Martinez Fernandez, Almudena;
Reyes, Santiago;
Secreto, Frank;
Terzic, Andre;
Olson, Timothy M.;
Nelson, Timothy J.

Publication type:

Article

Enhanced Ca2+ influx from STIM1–Orai1 induces muscle pathology in mouse models of muscular dystrophy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3706, doi. 10.1093/hmg/ddu079

By:

Goonasekera, Sanjeewa A.;
Davis, Jennifer;
Kwong, Jennifer Q.;
Accornero, Federica;
Wei-LaPierre, Lan;
Sargent, Michelle A.;
Dirksen, Robert T.;
Molkentin, Jeffery D.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 14, p. NP, doi. 10.1093/hmg/ddu327
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 14, p. NP, doi. 10.1093/hmg/ddu326
Publication type:: Article

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 14, p. 3666

By:

Colombo, Mara;
Blok, Marinus J.;
Whiley, Phillip;
Santamariña, Marta;
Gutiérrez-Enríquez, Sara;
Romero, Atocha;
Garre, Pilar;
Becker, Alexandra;
Smith, Lindsay Denise;
De Vecchi, Giovanna;
Brandão, Rita D.;
Tserpelis, Demis;
Brown, Melissa;
Blanco, Ana;
Bonache, Sandra;
Menéndez, Mireia;
Houdayer, Claude;
Foglia, Claudia;
Fackenthal, James D.;
Baralle, Diana

Publication type:

Article