Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 11

Results: 25

Mask loss-of-function rescues mitochondrial impairment and muscle degeneration of Drosophila pink1 and parkin mutants.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3272, doi. 10.1093/hmg/ddv081

By:

Mingwei Zhu;
Xia Li;
Xiaolin Tian;
Chunlai Wu

Publication type:

Article

HD iPSC-derived neural progenitors accumulate in culture and are susceptible to BDNF withdrawal due to glutamate toxicity.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3257, doi. 10.1093/hmg/ddv080

By:

Mattis, Virginia B.;
Tom, Colton;
Akimov, Sergey;
Saeedian, Jasmine;
Østergaard, Michael E.;
Southwell, Amber L.;
Doty, Crystal N.;
Ornelas, Loren;
Sahabian, Anais;
Lenaeus, Lindsay;
Mandefro, Berhan;
Sareen, Dhruv;
Arjomand, Jamshid;
Hayden, Michael R.;
Ross, Christopher A.;
Svendsen, Clive N.

Publication type:

Article

Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3248, doi. 10.1093/hmg/ddv078

By:

Nesti, Claudia;
Meschini, Maria Chiara;
Meunier, Brigitte;
Sacchini, Michele;
Doccini, Stefano;
Romano, Alessandro;
Petrillo, Sara;
Pezzini, Ilaria;
Seddiki, Nadir;
Rubegni, Anna;
Piemonte, Fiorella;
Donati, M. Alice;
Brasseur, Gael;
Santorelli, Filippo M.

Publication type:

Article

Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3172, doi. 10.1093/hmg/ddv069

By:

Ahmed, Iltaf;
Buchert, Rebecca;
Mi Zhou;
Xinfu Jiao;
Mittal, Kirti;
Sheikh, Taimoor I.;
Scheller, Ute;
Vasli, Nasim;
Rafiq, Muhammad Arshad;
Brohi, M. Qasim;
Mikhailov, Anna;
Ayaz, Muhammad;
Bhatti, Attya;
Sticht, Heinrich;
Tanveer Nasr;
Carter, Melissa T.;
Uebe, Steffen;
Reis, André;
Ayub, Muhammad;
John, Peter

Publication type:

Article

Gene therapy into photoreceptors and Müller glial cells restores retinal structure and function in CRB1 retinitis pigmentosa mouse models.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3104, doi. 10.1093/hmg/ddv062

By:

Pellissier, Lucie P.;
Quinn, Peter M.;
Alves, C. Henrique;
Vos, Rogier M.;
Klooster, Jan;
Flannery, John G.;
Heimel, J. Alexander;
Wijnholds, Jan

Publication type:

Article

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3038, doi. 10.1093/hmg/ddv053

By:

Huckert, Mathilde;
Stoetzel, Corinne;
Supawich Morkmued;
Laugel-Haushalter, Virginie;
Geoffroy, Véronique;
Muller, Jean;
Clauss, François;
Prasad, Megana K.;
Obry, Frédéric;
Raymond, Jean Louis;
Switala, Marzena;
Alembik, Yves;
Soskin, Sylvie;
Mathieu, Eric;
Hemmerlé, Joseph;
Weickert, Jean-Luc;
Dabovic, Branka Brukner;
Rifkin, Daniel B.;
Dheedene, Annelies;
Boudin, Eveline

Publication type:

Article

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3238, doi. 10.1093/hmg/ddv074

By:

Schiff, Manuel;
Haberberger, Birgit;
Chuanwu Xia;
Mohsen, Al-Walid;
Goetzman, Eric S.;
Yudong Wang;
Uppala, Radha;
Yuxun Zhang;
Karunanidhi, Anuradha;
Prabhu, Dolly;
Alharbi, Hana;
Prochownik, Edward V.;
Haack, Tobias;
Häberle, Johannes;
Munnich, Arnold;
Rötig, Agnes;
Taylor, Robert W.;
Nicholls, Robert D.;
Jung-Ja Kim;
Prokisch, Holger

Publication type:

Article

IRF4, MC1R and TYR genes are risk factors for actinic keratosis independent of skin color.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3296, doi. 10.1093/hmg/ddv076

By:

Jacobs, Leonie C.;
Fan Liu;
Pardo, Luba M.;
Hofman, Albert;
Uitterlinden, André G.;
Kayser, Manfred;
Nijsten, Tamar

Publication type:

Article

Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3220, doi. 10.1093/hmg/ddv073

By:

Ning Zhang;
Tsybovsky, Yaroslav;
Kolesnikov, Alexander V.;
Rozanowska, Malgorzata;
Swider, Malgorzata;
Schwartz, Sharon B.;
Stone, Edwin M.;
Palczewska, Grazyna;
Maeda, Akiko;
Kefalov, Vladimir J.;
Jacobson, Samuel G.;
Cideciyan, Artur V.;
Palczewski, Krzysztof

Publication type:

Article

A robust type I interferon gene signature from blood RNA defines quantitative but not qualitative differences between three major IFNβ drugs in the treatment of multiple sclerosis.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3192, doi. 10.1093/hmg/ddv071

By:

Harari, Daniel;
Orr, Irit;
Rotkopf, Ron;
Baranzini, Sergio E.;
Schreiber, Gideon

Publication type:

Article

A genetic dissection of intestinal fat-soluble vitamin and carotenoid absorption.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3206, doi. 10.1093/hmg/ddv072

By:

Widjaja-Adhi, M. Airanthi K.;
Lobo, Glenn P.;
Golczak, Marcin;
Von Lintig, Johannes

Publication type:

Article

Blocking hyperactive androgen receptor signaling ameliorates cardiac and renal hypertrophy in Fabry mice.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3181, doi. 10.1093/hmg/ddv070

By:

Jin-Song Shen;
Xing-Li Meng;
Wight-Carter, Mary;
Day, Taniqua S.;
Goetsch, Sean C.;
Forni, Sabrina;
Schneider, Jay W.;
Zhi-Ping Liu;
Schiffmann, Raphael

Publication type:

Article

Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3163, doi. 10.1093/hmg/ddv067

By:

Ng, Calista K. L.;
Shboul, Mohammad;
Taverniti, Valerio;
Bonnard, Carine;
Hane Lee;
Eskin, Ascia;
Nelson, Stanley F.;
Al-Raqad, Mohammed;
Altawalbeh, Samah;
Séraphin, Bertrand;
Reversade, Bruno

Publication type:

Article

Targeted sequencing of the Paget's disease associated 14q32 locus identifies several missense coding variants in RIN3 that predispose to Paget's disease of bone.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3286, doi. 10.1093/hmg/ddv068

By:

Vallet, Mahéva;
Soares, Dinesh C.;
Wani, Sachin;
Sophocleous, Antonia;
Warner, Jon;
Salter, Donald M.;
Ralston, Stuart H.;
Albagha, Omar M. E.

Publication type:

Article

Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3155, doi. 10.1093/hmg/ddv066

By:

Gostyńska, Katarzyna B.;
Nijenhuis, Miranda;
Lemmink, Henny;
Pas, Hendri H.;
Pasmooij, Anna M. G.;
Lang, Kristin Kernland;
Castañón, Maria J.;
Wiche, Gerhard;
Jonkman, Marcel F.

Publication type:

Article

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3143, doi. 10.1093/hmg/ddv065

By:

Giorgio, Elisa;
Robyr, Daniel;
Spielmann, Malte;
Ferrero, Enza;
Di Gregorio, Eleonora;
Imperiale, Daniele;
Vaula, Giovanna;
Stamoulis, Georgios;
Santoni, Federico;
Atzori, Cristiana;
Gasparini, Laura;
Ferrera, Denise;
Canale, Claudio;
Guipponi, Michel;
Pennacchio, Len A.;
Antonarakis, Stylianos E.;
Brussino, Alessandro;
Brusco, Alfredo

Publication type:

Article

Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3119, doi. 10.1093/hmg/ddv063

By:

Pfirrmann, Thorsten;
Emmerich, Denise;
Ruokonen, Peter;
Quandt, Dagmar;
Buchen, Renate;
Fischer-Zirnsak, Björn;
Hecht, Jochen;
Krawitz, Peter;
Meyer, Peter;
Klopocki, Eva;
Stricker, Sigmar;
Lausch, Ekkehart;
Seliger, Barbara;
Hollemann, Thomas;
Reinhard, Thomas;
Auw-Haedrich, Claudia;
Zabel, Bernhard;
Hoffmann, Katrin;
Villavicencio-Lorini, Pablo

Publication type:

Article

Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3133, doi. 10.1093/hmg/ddv064

By:

Nordin, Angelica;
Chizuru Akimoto;
Wuolikainen, Anna;
Alstermark, Helena;
Jonsson, Pär;
Birve, Anna;
Marklund, Stefan L.;
Graffmo, Karin S.;
Forsberg, Karin;
Brännström, Thomas;
Andersen, Peter M.

Publication type:

Article

Role of Foxl2 in uterine maturation and function.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3092, doi. 10.1093/hmg/ddv061

By:

Bellessort, Brice;
Bachelot, Anne;
Heude, Églantine;
Alfama, Gladys;
Fontaine, Anastasia;
Le Cardinal, Marine;
Treier, Mathias;
Levi, Giovanni

Publication type:

Article

NH<sub>2</sub>-truncated human tau induces deregulated mitophagy in neurons by aberrant recruitment of Parkin and UCHL-1: implications in Alzheimer's disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3058, doi. 10.1093/hmg/ddv059

By:

Corsetti, V.;
Florenzano, F.;
Atlante, A.;
Bobba, A.;
Ciotti, M. T.;
Natale, F.;
Valle, F. Della;
Borreca, A.;
Manca, A.;
Meli, G.;
Ferraina, C.;
Feligioni, M.;
D'Aguanno, S.;
Bussani, R.;
Ammassari-Teule, M.;
Nicolin, V.;
Calissano, P.;
Amadoro, G.

Publication type:

Article

Galanin pathogenic mutations in temporal lobe epilepsy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3082, doi. 10.1093/hmg/ddv060

By:

Guipponi, Michel;
Chentouf, Amina;
Webling, Kristin E. B.;
Freimann, Krista;
Crespel, Arielle;
Nobile, Carlo;
Lemke, Johannes R.;
Hansen, Jörg;
Dorn, Thomas;
Lesca, Gaetan;
Ryvlin, Philippe;
Hirsch, Edouard;
Rudolf, Gabrielle;
Rosenberg, Dominique Sarah;
Weber, Yvonne;
Becker, Felicitas;
Helbig, Ingo;
Muhle, Hiltrud;
Salzmann, Annick;
Chaouch, Malika

Publication type:

Article

Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3050, doi. 10.1093/hmg/ddv057

By:

Ng, Bobby G.;
Wolfe, Lynne A.;
Ichikawa, Mie;
Markello, Thomas;
Miao He;
Tifft, Cynthia J.;
Gahl, William A.;
Freeze, Hudson H.

Publication type:

Article

Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3030, doi. 10.1093/hmg/ddv048

By:

Loke, Johnny;
Pearlman, Alexander;
Upadhyay, Kinnari;
Tesfa, Lydia;
Yongzhao Shao;
Ostrer, Harry

Publication type:

Article

A disease module in the interactome explains disease heterogeneity, drug response and captures novel pathways and genes in asthma.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3005, doi. 10.1093/hmg/ddv001

By:

Sharma, Amitabh;
Menche, Jörg;
Huang, C. Chris;
Ort, Tatiana;
Xiaobo Zhou;
Kitsak, Maksim;
Sahni, Nidhi;
Thibault, Derek;
Linh Voung;
Feng Guo;
Ghiassian, Susan Dina;
Gulbahce, Natali;
Baribaud, Frédéric;
Tocker, Joel;
Dobrin, Radu;
Barnathan, Elliot;
Hao Liu;
Panettieri Jr, Reynold A.;
Tantisira, Kelan G.;
Weiliang Qiu

Publication type:

Article

Maternal gestational diabetes is associated with genome-wide DNA methylation variation in placenta and cord blood of exposed offspring.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 11, p. 3021, doi. 10.1093/hmg/ddv013

By:

Finer, Sarah;
Mathews, Chris;
Lowe, Rob;
Smart, Melissa;
Hillman, Sara;
Lin Foo;
Sinha, Ajay;
Williams, David;
Rakyan, Vardhman K.;
Hitman, Graham A.

Publication type:

Article