Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 22

Results: 10

Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 22, p. 3631, doi. 10.1093/hmg/ddaa244

By:

Aleo, Serena J;
Dotto, Valentina Del;
Fogazza, Mario;
Maresca, Alessandra;
Lodi, Tiziana;
Goffrini, Paola;
Ghelli, Anna;
Rugolo, Michela;
Carelli, Valerio;
Baruffini, Enrico;
Zanna, Claudia

Publication type:

Article

Mitochondria–lysosome membrane contacts are defective in GDAP1-related Charcot–Marie–Tooth disease.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 22, p. 3589, doi. 10.1093/hmg/ddaa243

By:

Cantarero, Lara;
Juárez-Escoto, Elena;
Civera-Tregón, Azahara;
Rodríguez-Sanz, María;
Roldán, Mónica;
Benítez, Raúl;
Hoenicka, Janet;
Palau, Francesc

Publication type:

Article

Genomic characterization of the adolescent idiopathic scoliosis-associated transcriptome and regulome.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 22, p. 3606, doi. 10.1093/hmg/ddaa242

By:

Makki, Nadja;
Zhao, Jingjing;
Liu, Zhaoyang;
Eckalbar, Walter L;
Ushiki, Aki;
Khanshour, Anas M;
Wu, Joe;
Rios, Jonathan;
Gray, Ryan S;
Wise, Carol A;
Ahituv, Nadav

Publication type:

Article

NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 22, p. 3691, doi. 10.1093/hmg/ddaa240

By:

Silva, Rodrigo Salazar da;
Dantas, Vitor Lima Goes;
Alves, Leandro Ucela;
Batissoco, Ana Carla;
Oiticica, Jeanne;
Lawrence, Elizabeth A;
Kawafi, Abdelwahab;
Yang, Yushi;
Nicastro, Fernanda Stávale;
Novaes, Beatriz Caiuby;
Hammond, Chrissy;
Kague, Erika;
Netto, Regina Célia Mingroni

Publication type:

Article

Decreased turnover of the CNS myelin protein Opalin in a mouse model of hereditary spastic paraplegia 35.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 22, p. 3616, doi. 10.1093/hmg/ddaa246

By:

Hardt, Robert;
Jordans, Silvia;
Winter, Dominic;
Gieselmann, Volkmar;
Wang-Eckhardt, Lihua;
Eckhardt, Matthias

Publication type:

Article

RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP).

Published in:

Human Molecular Genetics, 2020, v. 29, n. 22, p. 3706, doi. 10.1093/hmg/ddaa269

By:

Moreno-Leon, Laura;
West, Emma L;
O'Hara-Wright, Michelle;
Li, Linjing;
Nair, Rohini;
He, Jie;
Anand, Manisha;
Sahu, Bhubanananda;
Chavali, Venkat Ramana Murthy;
Smith, Alexander J;
Ali, Robin R;
Jacobson, Samuel G;
Cideciyan, Artur V;
Khanna, Hemant

Publication type:

Article

Germline EGFR variants are over-represented in adolescents and young adults (AYA) with adrenocortical carcinoma.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 22, p. 3679, doi. 10.1093/hmg/ddaa268

By:

Akhavanfard, Sara;
Yehia, Lamis;
Padmanabhan, Roshan;
Reynolds, Jordan P;
Ni, Ying;
Eng, Charis

Publication type:

Article

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 22, p. 3662, doi. 10.1093/hmg/ddaa258

By:

Martin, Ella M M A;
Enriquez, Annabelle;
Sparrow, Duncan B;
Humphreys, David T;
McInerney-Leo, Aideen M;
Leo, Paul J;
Duncan, Emma L;
Iyer, Kavitha R;
Greasby, Joelene A;
Ip, Eddie;
Giannoulatou, Eleni;
Sheng, Delicia;
Wohler, Elizabeth;
Dimartino, Clémantine;
Amiel, Jeanne;
Capri, Yline;
Lehalle, Daphné;
Mory, Adi;
Wilnai, Yael;
Lebenthal, Yael

Publication type:

Article

Transient establishment of imprinted DNA methylation of transgenic human IC1 sequence in mouse during the preimplantation period.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 22, p. 3646, doi. 10.1093/hmg/ddaa253

By:

Hirakawa, Katsuhiko;
Matsuzaki, Hitomi;
Tanimoto, Keiji

Publication type:

Article

Genetic association and characterization of FSTL5 in isolated clubfoot.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 22, p. 3717, doi. 10.1093/hmg/ddaa236

By:

Khanshour, Anas M;
Kidane, Yared H;
Kozlitina, Julia;
Cornelia, Reuel;
Rafipay, Alexandra;
Mello, Vanessa De;
Weston, Mitchell;
Paria, Nandina;
Khalid, Aysha;
Hecht, Jacqueline T;
Dobbs, Matthew B;
Richards, B Stephens;
Vargesson, Neil;
Hamra, F Kent;
Wilson, Megan;
Wise, Carol;
Gurnett, Christina A;
Rios, Jonathan J

Publication type:

Article