Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 21

Results: 10

MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 21, p. 3566, doi. 10.1093/hmg/ddaa250

By:

Franck, Silvie;
Barbé, Lise;
Ardui, Simon;
Vlaeminck, Yannick De;
Allemeersch, Joke;
Dziedzicka, Dominika;
Spits, Claudia;
Vanroye, Fien;
Hilven, Pierre;
Duqué, Geoffrey;
Vermeesch, Joris R;
Gheldof, Alexander;
Sermon, Karen

Publication type:

Article

Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 21, p. 3554, doi. 10.1093/hmg/ddaa249

By:

Testoni, Giorgia;
Olmeda, Bárbara;
Duran, Jordi;
López-Rodríguez, Elena;
Aguilera, Mònica;
Hernández-Álvarez, María Isabel;
Prats, Neus;
Pérez-Gil, Jesús;
Guinovart, Joan J

Publication type:

Article

NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 21, p. 3516, doi. 10.1093/hmg/ddaa237

By:

Nistala, Harikiran;
Dronzek, John;
Gonzaga-Jauregui, Claudia;
Chim, Shek Man;
Rajamani, Saathyaki;
Nuwayhid, Samer;
Delgado, Dennis;
Burke, Elizabeth;
Karaca, Ender;
Franklin, Matthew C;
Sarangapani, Prasad;
Podgorski, Michael;
Tang, Yajun;
Dominguez, Melissa G;
Withers, Marjorie;
Deckelbaum, Ron A;
Scheonherr, Christopher J;
Gahl, William A;
Malicdan, May C;
Zambrowicz, Brian

Publication type:

Article

Intragenic complementation of amino and carboxy terminal SMN missense mutations can rescue Smn null mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 21, p. 3493, doi. 10.1093/hmg/ddaa235

By:

McGovern, Vicki L;
Kray, Kaitlyn M;
Arnold, W David;
Duque, Sandra I;
Iyer, Chitra C;
Massoni-Laporte, Aurélie;
Workman, Eileen;
Patel, Aalapi;
Battle, Daniel J;
Burghes, Arthur H M

Publication type:

Article

The prevalent I686T human variant and loss-of-function mutations in the cardiomyocyte-specific kinase gene TNNI3K cause adverse contractility and concentric remodeling in mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 21, p. 3504, doi. 10.1093/hmg/ddaa234

By:

Gan, Peiheng;
Baicu, Catalin;
Watanabe, Hirofumi;
Wang, Kristy;
Tao, Ge;
Judge, Daniel P;
Zile, Michael R;
Makita, Takako;
Mukherjee, Rupak;
Sucov, Henry M

Publication type:

Article

Neuroligin dependence of social behaviour in Caenorhabditis elegans provides a model to investigate an autism-associated gene.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 21, p. 3546, doi. 10.1093/hmg/ddaa232

By:

Rawsthorne, Helena;
Calahorro, Fernando;
Feist, Emily;
Holden-Dye, Lindy;
O'Connor, Vincent;
Dillon, James

Publication type:

Article

MN1 overexpression with varying tumor grade is a promising predictor of survival of glioma patients.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 21, p. 3532, doi. 10.1093/hmg/ddaa231

By:

Saini, Masum;
Jha, Ajaya Nand;
Tangri, Rajiv;
Qudratullah, Md;
Ali, Sher

Publication type:

Article

Conditional deletion of SMN in cell culture identifies functional SMN alleles.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 21, p. 3477, doi. 10.1093/hmg/ddaa229

By:

Blatnik, Anton J;
McGovern, Vicki L;
Le, Thanh T;
Iyer, Chitra C;
Kaspar, Brian K;
Burghes, Arthur H M

Publication type:

Article

Germline variants are associated with increased primary melanoma tumor thickness at diagnosis.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 21, p. 3578, doi. 10.1093/hmg/ddaa222

By:

Mangantig, Ernest;
MacGregor, Stuart;
Iles, Mark M;
Scolyer, Richard A;
Cust, Anne E;
Hayward, Nicholas K;
Montgomery, Grant W;
Duffy, David L;
Thompson, John F;
Henders, Anjali;
Bowdler, Lisa;
Rowe, Casey;
Cadby, Gemma;
Mann, Graham J;
Whiteman, David C;
Long, Georgina V;
Ward, Sarah V;
Khosrotehrani, Kiarash;
Barrett, Jennifer H;
Law, Matthew H

Publication type:

Article

Low-pass whole genome bisulfite sequencing of neonatal dried blood spots identifies a role for RUNX1 in Down syndrome DNA methylation profiles.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 21, p. 3465, doi. 10.1093/hmg/ddaa218

By:

Laufer, Benjamin I;
Hwang, Hyeyeon;
Jianu, Julia M;
Mordaunt, Charles E;
Korf, Ian F;
Hertz-Picciotto, Irva;
LaSalle, Janine M

Publication type:

Article