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

Results: 10

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
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
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
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
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
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
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
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
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