Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 1

Results: 16

Loss of Drosophila FMRP leads to alterations in energy metabolism and mitochondrial function.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 1, p. 95, doi. 10.1093/hmg/ddx387

By:

Weisz, Eliana D.;
Towheed, Atif;
Monyak, Rachel E.;
Toth, Meridith S.;
Wallace, Douglas C.;
Jongens, Thomas A.

Publication type:

Article

Loss of p300 and CBP disrupts histone acetylation at the mouse Sry promoter and causes XY gonadal sex reversal.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 1, p. 190, doi. 10.1093/hmg/ddx398

By:

Carré, Gwenn-Aël;
Siggers, Pam;
Xipolita, Marilena;
Brindle, Paul;
Lutz, Beat;
Wells, Sara;
Greenfield, Andy

Publication type:

Article

Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 1, p. 178, doi. 10.1093/hmg/ddx393

By:

Straub, Isabella R.;
Janer, Alexandre;
Weraarpachai, Woranontee;
Zinman, Lorne;
Robertson, Janice;
Rogaeva, Ekaterina;
Shoubridge, Eric A.

Publication type:

Article

The biological impact of blood pressure-associated genetic variants in the natriuretic peptide receptor C gene on human vascular smooth muscle.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 1, p. 199, doi. 10.1093/hmg/ddx375

By:

Meixia Ren;
Fu Liang Ng;
Warren, Helen R.;
Witkowska, Kate;
Baron, Michael;
Zhilong Jia;
Cabrera, Claudia;
Ruoxin Zhang;
Mifsud, Borbala;
Munroe, Patricia B.;
Qingzhong Xiao;
Townsend-Nicholson, Andrea;
Hobbs, Adrian J.;
Shu Ye;
Caulfield, Mark J.

Publication type:

Article

In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 1, p. 160, doi. 10.1093/hmg/ddx397

By:

Burstein, S. R.;
Valsecchi, F.;
Kawamata, H.;
Bourens, M.;
Zeng, R.;
Zuberi, A.;
Milner, T. A.;
Cloonan, S. M.;
Lutz, C.;
Barrientos, A.;
Manfredi, G.

Publication type:

Article

Mining DNA methylation alterations towards a classification of placental pathologies.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 1, p. 135, doi. 10.1093/hmg/ddx391

By:

Wilson, Samantha L.;
Leavey, Katherine;
Cox, Brian J.;
Robinson, Wendy P.

Publication type:

Article

Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 1, p. 147, doi. 10.1093/hmg/ddx392

By:

Fernandez-Godino, Rosario;
Bujakowska, Kinga M.;
Pierce, Eric A.

Publication type:

Article

Isl1 mediates mesenchymal expansion in the developing external genitalia via regulation of Bmp4, Fgf10 and Wnt5a.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 1, p. 107, doi. 10.1093/hmg/ddx388

By:

Ching, Saunders T.;
Infante, Carlos R.;
Wen Du;
Sharir, Amnon;
Sungdae Park;
Menke, Douglas B.;
Klein, Ophir D.

Publication type:

Article

G2019S LRRK2 enhances the neuronal transmission of tau in the mouse brain.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 1, p. 120, doi. 10.1093/hmg/ddx389

By:

An Phu Tran Nguyen;
Daniel, Guillaume;
Valdés, Pamela;
Islam, Md. Shariful;
Schneider, Bernard L.;
Moore, Darren J.

Publication type:

Article

Cx32 hemichannel opening by cytosolic Ca<sup>2+</sup> is inhibited by the R220X mutation that causes Charcot-Marie-Tooth disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 1, p. 80, doi. 10.1093/hmg/ddx386

By:

Carrer, Andrea;
Leparulo, Alessandro;
Crispino, Giulia;
Ciubotaru, Catalin Dacian;
Marin, Oriano;
Zonta, Francesco;
Bortolozzi, Mario

Publication type:

Article

Combined microRNA and mRNA expression analysis in pediatric multiple sclerosis: an integrated approach to uncover novel pathogenic mechanisms of the disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 1, p. 66, doi. 10.1093/hmg/ddx385

By:

Liguori, Maria;
Nuzziello, Nicoletta;
Licciulli, Flavio;
Consiglio, Arianna Z.;
Simone, Marta;
Viterbo, Rosa Gemma;
Creanza, Teresa Maria;
Ancona, Nicola;
Tortorella, Carla;
Margari, Lucia;
Grillo, Giorgio;
Giordano, Paola;
Liuni, Sabino;
Trojano, Maria

Publication type:

Article

Gelsolin pathogenic Gly167Arg mutation promotes domain-swap dimerization of the protein.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 1, p. 53, doi. 10.1093/hmg/ddx383

By:

Bonì, Francesco;
Milani, Mario;
Barbiroli, Alberto;
Diomede, Luisa;
Mastrangelo, Eloise;
de Rosa, Matteo

Publication type:

Article

Modeling neuro-immune interactions during Zika virus infection.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 1, p. 41, doi. 10.1093/hmg/ddx382

By:

Mesci, Pinar;
Macia, Angela;
LaRock, Christopher N.;
Tejwani, Leon;
Fernandes, Isabella R.;
Suarez, Nicole A.;
de A. Zanotto, Paolo M.;
Beltrão-Braga, Patricia C. B.;
Nizet, Victor;
Muotri, Alysson R.

Publication type:

Article

Hippocampal phosphorylated tau induced cognitive decline, dendritic spine loss and mitochondrial abnormalities in a mouse model of Alzheimer's disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 1, p. 30, doi. 10.1093/hmg/ddx381

By:

Kandimalla, Ramesh;
Manczak, Maria;
Xiangling Yin;
Rui Wang;
Reddy, P. Hemachandra

Publication type:

Article

Macrophages escape Klotho gene silencing in the mdx mouse model of Duchenne muscular dystrophy and promote muscle growth and increase satellite cell numbers through a Klotho-mediated pathway.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 1, p. 14, doi. 10.1093/hmg/ddx380

By:

Wehling-Henricks, Michelle;
Welc, Steven S.;
Samengo, Guiseppina;
Rinaldi, Chiara;
Lindsey, Catherine;
Ying Wang;
Jeongyoon Lee;
Makoto Kuro-O;
Tidball, James G.

Publication type:

Article

Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 1, p. 1, doi. 10.1093/hmg/ddx374

By:

Martin, Ludovic;
Kaci, Nabil;
Estibals, Valentin;
Goudin, Nicolas;
Garfa-Traore, Meriem;
Benoist-Lasselin, Catherine;
Dambroise, Emilie;
Legeai-Mallet, Laurence

Publication type:

Article