Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 15

Results: 13

Epigenetic hallmarks of age-related macular degeneration are recapitulated in a photosensitive mouse model.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 15, p. 2611, doi. 10.1093/hmg/ddaa158

By:

Luu, Jennings;
Kallestad, Les;
Hoang, Thanh;
Lewandowski, Dominik;
Dong, Zhiqian;
Blackshaw, Seth;
Palczewski, Krzysztof

Publication type:

Article

Ubiquilin-2 differentially regulates polyglutamine disease proteins.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 15, p. 2596, doi. 10.1093/hmg/ddaa152

By:

Gerson, Julia E;
Safren, Nathaniel;
Fischer, Svetlana;
Patel, Ronak;
Crowley, Emily V;
Welday, Jacqueline P;
Windle, Alexandra K;
Barmada, Sami;
Paulson, Henry L;
Sharkey, Lisa M

Publication type:

Article

A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 15, p. 2568, doi. 10.1093/hmg/ddaa151

By:

Domingo, Deepti;
Nawaz, Urwah;
Corbett, Mark;
Espinoza, Josh L;
Tatton-Brown, Katrina;
Coman, David;
Wilkinson, Miles F;
Gecz, Jozef;
Jolly, Lachlan A

Publication type:

Article

Transcriptomic and epigenomic dynamics associated with development of human iPSC-derived GABAergic interneurons.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 15, p. 2579, doi. 10.1093/hmg/ddaa150

By:

Inglis, George Andrew S;
Zhou, Ying;
Patterson, Dillon G;
Scharer, Christopher D;
Han, Yanfei;
Boss, Jeremy M;
Wen, Zhexing;
Escayg, Andrew

Publication type:

Article

Targeted chromatin conformation analysis identifies novel distal neural enhancers of ZEB2 in pluripotent stem cell differentiation.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 15, p. 2535, doi. 10.1093/hmg/ddaa141

By:

Birkhoff, Judith C;
Brouwer, Rutger W W;
Kolovos, Petros;
Korporaal, Anne L;
Bermejo-Santos, Ana;
Boltsis, Ilias;
Nowosad, Karol;
Hout, Mirjam C G N van den;
Grosveld, Frank G;
IJcken, Wilfred F J van;
Huylebroeck, Danny;
Conidi, Andrea

Publication type:

Article

Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 15, p. 2551, doi. 10.1093/hmg/ddaa139

By:

Pinto, Ricardo Mouro;
Arning, Larissa;
Giordano, James V;
Razghandi, Pedram;
Andrew, Marissa A;
Gillis, Tammy;
Correia, Kevin;
Mysore, Jayalakshmi S;
Urtubey, Debora-M Grote;
Parwez, Constanze R;
Hein, Sarah M von;
Clark, H Brent;
Nguyen, Huu Phuc;
Förster, Eckart;
Beller, Allison;
Jayadaev, Suman;
Keene, C Dirk;
Bird, Thomas D;
Lucente, Diane;
Vonsattel, Jean-Paul

Publication type:

Article

Correction of cilia structure and function alleviates multi-organ pathology in Bardet–Biedl syndrome mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 15, p. 2508, doi. 10.1093/hmg/ddaa138

By:

Husson, Hervé;
Bukanov, Nikolay O;
Moreno, Sarah;
Smith, Mandy M;
Richards, Brenda;
Zhu, Cheng;
Picariello, Tyler;
Park, Hyejung;
Wang, Bing;
Natoli, Thomas A;
Smith, Laurie A;
Zanotti, Stefano;
Russo, Ryan J;
Madden, Stephen L;
Klinger, Katherine W;
Modur, Vijay;
Ibraghimov-Beskrovnaya, Oxana

Publication type:

Article

Serum biomarkers associated with baseline clinical severity in young steroid-naïve Duchenne muscular dystrophy boys.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 15, p. 2481, doi. 10.1093/hmg/ddaa132

By:

Dang, Utkarsh J;
Ziemba, Michael;
Clemens, Paula R;
Hathout, Yetrib;
Conklin, Laurie S;
Investigators, CINRG Vamorolone 002/003;
Hoffman, Eric P

Publication type:

Article

Skewed allelic expression on X chromosome associated with aberrant expression of XIST on systemic lupus erythematosus lymphocytes.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 15, p. 2523, doi. 10.1093/hmg/ddaa131

By:

Zhang, Yanfeng;
Li, Xinrui;
Gibson, Andrew;
Edberg, Jeffrey;
Kimberly, Robert P;
Absher, Devin M

Publication type:

Article

C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot–Marie–Tooth disease in a knockout mouse model.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 15, p. 2471, doi. 10.1093/hmg/ddaa129

By:

Huang, Cheng;
Shen, Zong Rui;
Huang, Jin;
Sun, Shun Chang;
Ma, Di;
Li, Mei Yi;
Wang, Zhi Kui;
Zheng, Ying Chun;
Zheng, Zhuo Jun;
He, Fei;
Xu, Xiaoyuan;
Li, Ziang;
Zheng, Bo Yang;
Li, Yue Mao;
Xu, Xiang Min;
Xiong, Fu

Publication type:

Article

Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 15, p. 2496, doi. 10.1093/hmg/ddaa123

By:

Morales, Fernando;
Vásquez, Melissa;
Corrales, Eyleen;
Vindas-Smith, Rebeca;
Santamaría-Ulloa, Carolina;
Zhang, Baili;
Sirito, Mario;
Estecio, Marcos R;
Krahe, Ralf;
Monckton, Darren G

Publication type:

Article

Protein QTL analysis of IGF-I and its binding proteins provides insights into growth biology.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 15, p. 2625, doi. 10.1093/hmg/ddaa103

By:

Bartell, Eric;
Fujimoto, Masanobu;
Khoury, Jane C;
Khoury, Philip R;
Vedantam, Sailaja;
Astley, Christina M;
Hirschhorn, Joel N;
Dauber, Andrew

Publication type:

Article

Pharmacological read-through of R294X Mecp2 in a novel mouse model of Rett syndrome.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 15, p. 2461, doi. 10.1093/hmg/ddaa102

By:

Merritt, Jonathan K;
Collins, Bridget E;
Erickson, Kirsty R;
Dong, Hongwei;
Neul, Jeffrey L

Publication type:

Article