Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 3

Results: 14

p53 deletion rescues lethal microcephaly in a mouse model with neural stem cell abscission defects.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 3, p. 434, doi. 10.1093/hmg/ddy350

By:

Little, Jessica Neville;
Dwyer, Noelle D

Publication type:

Article

Suppression of myopathic lamin mutations by muscle-specific activation of AMPK and modulation of downstream signaling.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 3, p. 351, doi. 10.1093/hmg/ddy332

By:

Chandran, Sahaana;
Suggs, Jennifer A;
Wang, Bingyan J;
Han, Andrew;
Bhide, Shruti;
Cryderman, Diane E;
Moore, Steven A;
Bernstein, Sanford I;
Wallrath, Lori L;
Melkani, Girish C

Publication type:

Article

Prph2 initiates outer segment morphogenesis but maturation requires Prph2/Rom1 oligomerization.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 3, p. 459, doi. 10.1093/hmg/ddy359

By:

Conley, Shannon M;
Stuck, Michael W;
Watson, Jamie N;
Zulliger, Rahel;
Burnett, Justin L;
Naash, Muna I

Publication type:

Article

Whole genome sequence association with E-selectin levels reveals loss-of-function variant in African Americans.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 3, p. 515, doi. 10.1093/hmg/ddy360

By:

Polfus, Linda M;
Raffield, Laura M;
Wheeler, Marsha M;
Tracy, Russell P;
Lange, Leslie A;
Lettre, Guillaume;
Miller, Amanda;
Correa, Adolfo;
Bowler, Russell P;
Bis, Joshua C;
Salimi, Shabnam;
Jenny, Nancy Swords;
Pankratz, Nathan;
Wang, Biqi;
Preuss, Michael H;
Zhou, Lisheng;
Moscati, Arden;
Nadkarni, Girish N;
Loos, Ruth J F;
Zhong, Xue

Publication type:

Article

Mutant huntingtin reduction in astrocytes slows disease progression in the BACHD conditional Huntington's disease mouse model.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 3, p. 487, doi. 10.1093/hmg/ddy363

By:

Wood, Tara E;
Barry, Joshua;
Yang, Zhenquin;
Cepeda, Carlos;
Levine, Michael S;
Gray, Michelle

Publication type:

Article

purely quantitative form of partial recessive IFN- γ R2 deficiency caused by mutations of the initiation or second codon.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 3, p. 524, doi. 10.1093/hmg/ddy357

By:

Oleaga-Quintas, Carmen;
Deswarte, Caroline;
Moncada-Vélez, Marcela;
Metin, Ayse;
Rao, Indumathi Krishna;
Kanık-Yüksek, Saliha;
Nieto-Patlán, Alejandro;
Guérin, Antoine;
Gülhan, Belgin;
Murthy, Savita;
Özkaya-Parlakay, Aslınur;
Abel, Laurent;
Martínez-Barricarte, Rubén;
Diego, Rebeca Pérez de;
Boisson-Dupuis, Stéphanie;
Kong, Xiao-Fei;
Casanova, Jean-Laurent;
Bustamante, Jacinta

Publication type:

Article

MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 3, p. 476, doi. 10.1093/hmg/ddy364

By:

Wang, Leo H;
Friedman, Seth D;
Shaw, Dennis;
Snider, Lauren;
Wong, Chao-Jen;
Budech, Chris B;
Poliachik, Sandra L;
Gove, Nancy E;
Lewis, Leann M;
Campbell, Amy E;
Lemmers, Richard J F L;
Maarel, Silvère M;
Tapscott, Stephen J;
Tawil, Rabi N

Publication type:

Article

Multiplication of the SNCA locus exacerbates neuronal nuclear aging.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 3, p. 407, doi. 10.1093/hmg/ddy355

By:

Tagliafierro, Lidia;
Zamora, Madison Elena;
Chiba-Falek, Ornit

Publication type:

Article

Mitophagy activation repairs Leber's hereditary optic neuropathy-associated mitochondrial dysfunction and improves cell survival.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 3, p. 422, doi. 10.1093/hmg/ddy354

By:

Sharma, Lokendra Kumar;
Tiwari, Meenakshi;
Rai, Neeraj Kumar;
Bai, Yidong

Publication type:

Article

Mice lacking α -, β 1- and β 2-syntrophins exhibit diminished function and reduced dystrophin expression in both cardiac and skeletal muscle.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 3, p. 386, doi. 10.1093/hmg/ddy341

By:

Kim, Min Jeong;
Whitehead, Nicholas P;
Bible, Kenneth L;
Adams, Marvin E;
Froehner, Stanley C

Publication type:

Article

Low levels of NMNAT2 compromise axon development and survival.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 3, p. 448, doi. 10.1093/hmg/ddy356

By:

Gilley, Jonathan;
Mayer, Paul R;
Yu, Gang;
Coleman, Michael P

Publication type:

Article

Impact of assisted reproduction, infertility, sex and paternal factors on the placental DNA methylome.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 3, p. 372, doi. 10.1093/hmg/ddy321

By:

Choufani, Sanaa;
Turinsky, Andrei L;
Melamed, Nir;
Greenblatt, Ellen;
Brudno, Michael;
Bérard, Anick;
Fraser, William D;
Weksberg, Rosanna;
Trasler, Jacquetta;
Monnier, Patricia;
group, 3D cohort study

Publication type:

Article

Hematopoietic and neural crest defects in zebrafish shoc2 mutants: a novel vertebrate model for Noonan-like syndrome.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 3, p. 501, doi. 10.1093/hmg/ddy366

By:

Jang, HyeIn;
Oakley, Erin;
Forbes-Osborne, Marie;
Kesler, Melissa V;
Norcross, Rebecca;
Morris, Ann C;
Galperin, Emilia

Publication type:

Article

Cmah -dystrophin deficient mdx mice display an accelerated cardiac phenotype that is improved following peptide-PMO exon skipping treatment.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 3, p. 396, doi. 10.1093/hmg/ddy346

By:

Betts, Corinne A;
McClorey, Graham;
Healicon, Richard;
Hammond, Suzan M;
Manzano, Raquel;
Muses, Sofia;
Ball, Vicky;
Godfrey, Caroline;
Merritt, Thomas M;
Westering, Tirsa van;
O'Donovan, Liz;
Wells, Kim E;
Gait, Michael J;
Wells, Dominic J;
Tyler, Damian;
Wood, Matthew J

Publication type:

Article