Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 23

Results: 10

Brain cell type-specific endocytosis of arylsulfatase A identifies limitations of enzyme-based therapies for metachromatic leukodystrophy.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 23, p. 3807, doi. 10.1093/hmg/ddaa277

By:

Kaminski, Debora;
Yaghootfam, Claudia;
Matthes, Frank;
Reßing, Annika;
Gieselmann, Volkmar;
Matzner, Ulrich

Publication type:

Article

Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 23, p. 3818, doi. 10.1093/hmg/ddaa267

By:

Rodden, Layne N;
Chutake, Yogesh K;
Gilliam, Kaitlyn;
Lam, Christina;
Soragni, Elisabetta;
Hauser, Lauren;
Gilliam, Matthew;
Wiley, Graham;
Anderson, Michael P;
Gottesfeld, Joel M;
Lynch, David R;
Bidichandani, Sanjay I

Publication type:

Article

Merlin cooperates with neurofibromin and Spred1 to suppress the Ras–Erk pathway.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 23, p. 3793, doi. 10.1093/hmg/ddaa263

By:

Cui, Yan;
Ma, Lin;
Schacke, Stephan;
Yin, Jiani C;
Hsueh, Yi-Ping;
Jin, Hongchuan;
Morrison, Helen

Publication type:

Article

A Neurexin2aa deficiency results in axon pathfinding defects and increased anxiety in zebrafish.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 23, p. 3765, doi. 10.1093/hmg/ddaa260

By:

Koh, Angela;
Tao, Shijie;
Goh, Yun Jing;
Chaganty, Vindhya;
See, Kelvin;
Purushothaman, Kathiresan;
Orbán, László;
Mathuru, Ajay S;
Wohland, Thorsten;
Winkler, Christoph

Publication type:

Article

Heterozygous deletion of Sox9 in mouse mimics the gonadal sex reversal phenotype associated with campomelic dysplasia in humans.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 23, p. 3781, doi. 10.1093/hmg/ddaa259

By:

Bagheri-Fam, Stefan;
Combes, Alexander N;
Ling, Cheuk K;
Wilhelm, Dagmar

Publication type:

Article

Urinary metabolite quantitative trait loci in children and their interaction with dietary factors.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 23, p. 3830, doi. 10.1093/hmg/ddaa257

By:

Calvo-Serra, Beatriz;
Maitre, Léa;
Lau, Chung-Ho E;
Siskos, Alexandros P;
Gützkow, Kristine B;
Andrušaitytė, Sandra;
Casas, Maribel;
Cadiou, Solène;
Chatzi, Leda;
González, Juan R;
Grazuleviciene, Regina;
McEachan, Rosemary;
Slama, Rémy;
Vafeiadi, Marina;
Wright, John;
Coen, Murieann;
Vrijheid, Martine;
Keun, Hector C;
Escaramís, Geòrgia;
Bustamante, Mariona

Publication type:

Article

Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 23, p. 3845, doi. 10.1093/hmg/ddaa255

By:

Sole-Navais, Pol;
Bacelis, Jonas;
Helgeland, Øyvind;
Modzelewska, Dominika;
Vaudel, Marc;
Flatley, Christopher;
Andreassen, Ole;
Njølstad, Pål R;
Muglia, Louis J;
Johansson, Stefan;
Zhang, Ge;
Jacobsson, Bo

Publication type:

Article

TrkA mediates effect of novel KIDINS220 mutation in human brain ventriculomegaly.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 23, p. 3757, doi. 10.1093/hmg/ddaa245

By:

Jacquemin, Valerie;
Antoine, Mathieu;
Duerinckx, Sarah;
Massart, Annick;
Desir, Julie;
Perazzolo, Camille;
Cassart, Marie;
Thomas, Dominique;
Segers, Valérie;
Lecomte, Sophie;
Abramowicz, Marc;
Pirson, Isabelle

Publication type:

Article

Interregulation between fragile X mental retardation protein and methyl CpG binding protein 2 in the mouse posterior cerebral cortex.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 23, p. 3744, doi. 10.1093/hmg/ddaa226

By:

Arsenault, Jason;
Hooper, Alexander W M;
Gholizadeh, Shervin;
Kong, Tian;
Pacey, Laura K;
Koxhioni, Enea;
Niibori, Yosuke;
Eubanks, James H;
Wang, Lu-Yang;
Hampson, David R

Publication type:

Article

Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 23, p. 3729, doi. 10.1093/hmg/ddaa225

By:

Wonkam, Ambroise;
Manyisa, Noluthando;
Bope, Christian D;
Dandara, Collet;
Chimusa, Emile R

Publication type:

Article