Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 5

Results: 13

Targeted deletion of an NRL- and CRX-regulated alternative promoter specifically silences FERM and PDZ domain containing 1 (Frmpd1) in rod photoreceptors.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 5, p. 804, doi. 10.1093/hmg/ddy388

By:

Campla, Christie K;
Mast, Hannah;
Dong, Lijin;
Lei, Jingqi;
Halford, Stephanie;
Sekaran, Sumathi;
Swaroop, Anand

Publication type:

Article

Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok −/− zebrafish.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 5, p. 796, doi. 10.1093/hmg/ddy389

By:

Munro, Benjamin;
Horvath, Rita;
Müller, Juliane S

Publication type:

Article

deubiquitinating enzyme Usp14 controls ciliogenesis and Hedgehog signaling.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 5, p. 764, doi. 10.1093/hmg/ddy380

By:

Massa, Filomena;
Tammaro, Roberta;
Prado, Miguel A;
Cesana, Marcella;
Lee, Byung-Hoon;
Finley, Daniel;
Franco, Brunella;
Morleo, Manuela

Publication type:

Article

neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 5, p. 818, doi. 10.1093/hmg/ddy393

By:

D'haene, Eva;
Bar-Yaacov, Reut;
Bariah, Inbar;
Vantomme, Lies;
Loo, Sien Van;
Cobos, Francisco Avila;
Verboom, Karen;
Eshel, Reut;
Alatawna, Rawan;
Menten, Björn;
Birnbaum, Ramon Y;
Vergult, Sarah

Publication type:

Article

Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 5, p. 778, doi. 10.1093/hmg/ddy381

By:

Reilly, Madeline Louise;
Stokman, Marijn F;
Magry, Virginie;
Jeanpierre, Cecile;
Alves, Marine;
Paydar, Mohammadjavad;
Hellinga, Jacqueline;
Delous, Marion;
Pouly, Daniel;
Failler, Marion;
Martinovic, Jelena;
Loeuillet, Laurence;
Leroy, Brigitte;
Tantau, Julia;
Roume, Joelle;
Gregory-Evans, Cheryl Y;
Shan, Xianghong;
Filges, Isabel;
Allingham, John S;
Kwok, Benjamin H

Publication type:

Article

Genome-wide chromatin accessibility and transcriptome profiling show minimal epigenome changes and coordinated transcriptional dysregulation of hedgehog signaling in Danforth's short tail mice.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 5, p. 736, doi. 10.1093/hmg/ddy378

By:

Orchard, Peter;
White, James S;
Thomas, Peedikayil E;
Mychalowych, Anna;
Kiseleva, Anya;
Hensley, John;
Allen, Benjamin;
Parker, Stephen C J;
Keegan, Catherine E

Publication type:

Article

SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 5, p. 828, doi. 10.1093/hmg/ddy394

By:

Holt-Danborg, Lasse;
Vodopiutz, Julia;
Nonboe, Annika W;
Laffolie, Jan De;
Skovbjerg, Signe;
Wolters, Victorien M;
Müller, Thomas;
Hetzer, Benjamin;
Querfurt, Alexander;
Zimmer, Klaus-Peter;
Jensen, Jan K;
Entenmann, Andreas;
Heinz-Erian, Peter;
Vogel, Lotte K;
Janecke, Andreas R

Publication type:

Article

Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 5, p. 858, doi. 10.1093/hmg/ddy395

By:

Laufer, Vincent A;
Tiwari, Hemant K;
Reynolds, Richard J;
Danila, Maria I;
Wang, Jelai;
Edberg, Jeffrey C;
Kimberly, Robert P;
Kottyan, Leah C;
Harley, John B;
Mikuls, Ted R;
Gregersen, Peter K;
Absher, Devin M;
Langefeld, Carl D;
Arnett, Donna K;
Bridges, S Louis

Publication type:

Article

Mitochondrial division inhibitor 1 reduces dynamin-related protein 1 and mitochondrial fission activity.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 5, p. 875, doi. 10.1093/hmg/ddy399

By:

Manczak, Maria;
Kandimalla, Ramesh;
Yin, Xiangling;
Reddy, P Hemachandra

Publication type:

Article

c-Myc is a regulator of the PKD1 gene and PC1-induced pathogenesis.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 5, p. 751, doi. 10.1093/hmg/ddy379

By:

Parrot, Camila;
Kurbegovic, Almira;
Yao, Guanhan;
Couillard, Martin;
Côté, Olivier;
Trudel, Marie

Publication type:

Article

Candidate-based screening via gene modulation in human neurons and astrocytes implicates FERMT2 in A β and TAU proteostasis.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 5, p. 718, doi. 10.1093/hmg/ddy376

By:

Sullivan, Sarah E;
Liao, Meichen;
Smith, Robert V;
White, Charles;
Lagomarsino, Valentina N;
Xu, Jishu;
Taga, Mariko;
Bennett, David A;
Jager, Philip L De;
Young-Pearse, Tracy L

Publication type:

Article

BRCA1 represses DNA replication initiation through antagonizing estrogen signaling and maintains genome stability in parallel with WEE1–MCM2 signaling during pregnancy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 5, p. 842, doi. 10.1093/hmg/ddy398

By:

Xu, Xiaoling;
Chen, Eric;
Mo, Lihua;
Zhang, Lei;
Shao, Fangyuan;
Miao, Kai;
Liu, Jianlin;
Su, Sek Man;
Valecha, Monica;
Chan, Un In;
Zheng, Hongping;
Chen, Mark;
Chen, Weiping;
Chen, Qiang;
Fu, Haiqing;
Aladjem, Mirit I;
He, Yanzhen;
Deng, Chu-Xia

Publication type:

Article

Altered social behavior in mice carrying a cortical Foxp2 deletion.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 5, p. 701, doi. 10.1093/hmg/ddy372

By:

Medvedeva, Vera P;
Rieger, Michael A;
Vieth, Beate;
Mombereau, Cédric;
Ziegenhain, Christoph;
Ghosh, Tanay;
Cressant, Arnaud;
Enard, Wolfgang;
Granon, Sylvie;
Dougherty, Joseph D;
Groszer, Matthias

Publication type:

Article