Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 5

Results: 17

Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 5, p. 766, doi. 10.1093/hmg/ddz316

By:

Gilet, Johan G;
Ivanova, Ekaterina L;
Trofimova, Daria;
Rudolf, Gabrielle;
Meziane, Hamid;
Broix, Loic;
Drouot, Nathalie;
Courraud, Jeremie;
Skory, Valerie;
Voulleminot, Paul;
Osipenko, Maria;
Bahi-Buisson, Nadia;
Yalcin, Binnaz;
Birling, Marie-Christine;
Hinckelmann, Maria-Victoria;
Kwok, Benjamin H;
Allingham, John S;
Chelly, Jamel

Publication type:

Article

Genome-wide scan identifies novel genetic loci regulating salivary metabolite levels.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 5, p. 864, doi. 10.1093/hmg/ddz308

By:

Nag, Abhishek;
Kurushima, Yuko;
Bowyer, Ruth C E;
Wells, Philippa M;
Weiss, Stefan;
Pietzner, Maik;
Kocher, Thomas;
Raffler, Johannes;
Völker, Uwe;
Mangino, Massimo;
Spector, Timothy D;
Milburn, Michael V;
Kastenmüller, Gabi;
Mohney, Robert P;
Suhre, Karsten;
Menni, Cristina;
Steves, Claire J

Publication type:

Article

Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 5, p. 705, doi. 10.1093/hmg/ddz233

By:

Chen, Chun-An;
Wang, Wei;
Pedersen, Steen E;
Raman, Ayush;
Seymour, Michelle L;
Ruiz, Fernanda R;
Xia, Anping;
Heijden, Meike E van der;
Wang, Li;
Yin, Jiani;
Lopez, Joanna;
Rech, Megan E;
Lewis, Richard A;
Wu, Samuel M;
Liu, Zhandong;
Pereira, Fred A;
Pautler, Robia G;
Zoghbi, Huda Y;
Schaaf, Christian P

Publication type:

Article

Mimicking of splicing-related retinitis pigmentosa mutations in C. elegans allow drug screens and identification of disease modifiers.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 5, p. 756, doi. 10.1093/hmg/ddz315

By:

Kukhtar, Dmytro;
Rubio-Peña, Karinna;
Serrat, Xènia;
Cerón, Julián

Publication type:

Article

Disruption of a RAC1-centred network is associated with Alzheimer's disease pathology and causes age-dependent neurodegeneration.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 5, p. 817, doi. 10.1093/hmg/ddz320

By:

Kikuchi, Masataka;
Sekiya, Michiko;
Hara, Norikazu;
Miyashita, Akinori;
Kuwano, Ryozo;
Ikeuchi, Takeshi;
Iijima, Koichi M;
Nakaya, Akihiro

Publication type:

Article

Deep genotype imputation captures virtually all heritability of autoimmune vitiligo.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 5, p. 859, doi. 10.1093/hmg/ddaa005

By:

Roberts, Genevieve H L;
Santorico, Stephanie A;
Spritz, Richard A

Publication type:

Article

Longitudinal metabolomic analysis of plasma enables modeling disease progression in Duchenne muscular dystrophy mouse models.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 5, p. 745, doi. 10.1093/hmg/ddz309

By:

Tsonaka, Roula;
Signorelli, Mirko;
Sabir, Ekrem;
Seyer, Alexandre;
Hettne, Kristina;
Aartsma-Rus, Annemieke;
Spitali, Pietro

Publication type:

Article

Human iPSC-derived Down syndrome astrocytes display genome-wide perturbations in gene expression, an altered adhesion profile, and increased cellular dynamics.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 5, p. 785, doi. 10.1093/hmg/ddaa003

By:

Bally, Blandine Ponroy;
Farmer, W Todd;
Jones, Emma V;
Jessa, Selin;
Kacerovsky, J Benjamin;
Mayran, Alexandre;
Peng, Huashan;
Lefebvre, Julie L;
Drouin, Jacques;
Hayer, Arnold;
Ernst, Carl;
Murai, Keith K

Publication type:

Article

Genetic susceptibility to severe childhood asthma and rhinovirus-C maintained by balancing selection in humans for 150 000 years.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 5, p. 736, doi. 10.1093/hmg/ddz304

By:

O'Neill, Mary B;
Laval, Guillaume;
Teixeira, João C;
Palmenberg, Ann C;
Pepperell, Caitlin S

Publication type:

Article

Corrigendum to: Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 5, p. 876, doi. 10.1093/hmg/ddz289

By:

Fahrner, Jill A;
Bjornsson, Hans T

Publication type:

Article

Dynamic effects of Fto in regulating the proliferation and differentiation of adult neural stem cells of mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 5, p. 727, doi. 10.1093/hmg/ddz274

By:

Cao, Yuhang;
Zhuang, Yingliang;
Chen, Junchen;
Xu, Weize;
Shou, Yikai;
Huang, Xiaoli;
Shu, Qiang;
Li, Xuekun

Publication type:

Article

Progranulin mutations result in impaired processing of prosaposin and reduced glucocerebrosidase activity.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 5, p. 716, doi. 10.1093/hmg/ddz229

By:

Valdez, Clarissa;
Ysselstein, Daniel;
Young, Tiffany J;
Zheng, Jianbin;
Krainc, Dimitri

Publication type:

Article

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 5, p. 877, doi. 10.1093/hmg/ddz173

By:

Cheng, Hanyin;
Gottlieb, Leah;
Marchi, Elaine;
Kleyner, Robert;
Bhardwaj, Puja;
Rope, Alan F;
Rosenheck, Sarah;
Moutton, Sébastien;
Philippe, Christophe;
Eyaid, Wafaa;
Alkuraya, Fowzan S;
Toribio, Janet;
Mena, Rafael;
Prada, Carlos E;
Stessman, Holly;
Bernier, Raphael;
Wermuth, Marieke;
Kauffmann, Birgit;
Blaumeiser, Bettina;
Kooy, R Frank

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2020, v. 29, n. 5, p. 879, doi. 10.1093/hmg/ddaa019

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

Enzyme replacement therapy in mice lacking arylsulfatase B targets bone-remodeling cells, but not chondrocytes.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 5, p. 803, doi. 10.1093/hmg/ddaa006

By:

Hendrickx, Gretl;
Danyukova, Tatyana;
Baranowsky, Anke;
Rolvien, Tim;
Angermann, Alexandra;
Schweizer, Michaela;
Keller, Johannes;
Schröder, Jörg;
Meyer-Schwesinger, Catherine;
Muschol, Nicole;
Paganini, Chiara;
Rossi, Antonio;
Amling, Michael;
Pohl, Sandra;
Schinke, Thorsten

Publication type:

Article

The signaling pathways implicated in impairment of hepatic autophagy in glycogen storage disease type Ia.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 5, p. 834, doi. 10.1093/hmg/ddaa007

By:

Gautam, Sudeep;
Zhang, Lisa;
Arnaoutova, Irina;
Lee, Cheol;
Mansfield, Brian C;
Chou, Janice Y

Publication type:

Article

SPECC1L regulates palate development downstream of IRF6.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 5, p. 845, doi. 10.1093/hmg/ddaa002

By:

Hall, Everett G;
Wenger, Luke W;
Wilson, Nathan R;
Undurty-Akella, Sraavya S;
Standley, Jennifer;
Augustine-Akpan, Eno-Abasi;
Kousa, Youssef A;
Acevedo, Diana S;
Goering, Jeremy P;
Pitstick, Lenore;
Natsume, Nagato;
Paroya, Shahnawaz M;
Busch, Tamara D;
Ito, Masaaki;
Mori, Akihiro;
Imura, Hideto;
Schultz-Rogers, Laura E;
Klee, Eric W;
Babovic-Vuksanovic, Dusica;
Kroc, Sarah A

Publication type:

Article