Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 6

Results: 13

Fine-mapping of Parkinson's disease susceptibility loci identifies putative causal variants.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 6, p. 888, doi. 10.1093/hmg/ddab294

By:

Schilder, Brian M;
Raj, Towfique

Publication type:

Article

Inbreeding, Native American ancestry and child mortality: linking human selection and paediatric medicine.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 6, p. 975, doi. 10.1093/hmg/ddab302

By:

Koenigstein, Fabienne;
Boekstegers, Felix;
Wilson, James F;
Fuentes-Guajardo, Macarena;
Gonzalez-Jose, Rolando;
Bedoya, Gabriel;
Bortolini, Maria Cátira;
Acuña-Alonzo, Victor;
Gallo, Carla;
Linares, Andres Ruiz;
Rothhammer, Francisco;
Bermejo, Justo Lorenzo

Publication type:

Article

Lis1 mutation prevents basal radial glia-like cell production in the mouse.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 6, p. 942, doi. 10.1093/hmg/ddab295

By:

Penisson, Maxime;
Jin, Mingyue;
Wang, Shengming;
Hirotsune, Shinji;
Francis, Fiona;
Belvindrah, Richard

Publication type:

Article

Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 6, p. 901, doi. 10.1093/hmg/ddab298

By:

Macha, Arthur;
Liebsch, Filip;
Fricke, Steffen;
Hetsch, Florian;
Neuser, Franziska;
Johannes, Lena;
Kress, Vanessa;
Djémié, Tania;
Santamaria-Araujo, Jose A;
Vilain, Catheline;
Aeby, Alec;
Bogaert, Patrick Van;
Dejanovic, Borislav;
Weckhuysen, Sarah;
Meier, Jochen C;
Schwarz, Guenter

Publication type:

Article

Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 6, p. 958, doi. 10.1093/hmg/ddab299

By:

Kenvin, Sebastian;
Torregrosa-Muñumer, Ruben;
Reidelbach, Marco;
Pennonen, Jana;
Turkia, Jeremi J;
Rannila, Erika;
Kvist, Jouni;
Sainio, Markus T;
Huber, Nadine;
Herukka, Sanna-Kaisa;
Haapasalo, Annakaisa;
Auranen, Mari;
Trokovic, Ras;
Sharma, Vivek;
Ylikallio, Emil;
Tyynismaa, Henna

Publication type:

Article

Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 6, p. 929, doi. 10.1093/hmg/ddab296

By:

Rocco, Martina Di;
Galosi, Serena;
Lanza, Enrico;
Tosato, Federica;
Caprini, Davide;
Folli, Viola;
Friedman, Jennifer;
Bocchinfuso, Gianfranco;
Martire, Alberto;
Schiavi, Elia Di;
Leuzzi, Vincenzo;
Martinelli, Simone

Publication type:

Article

adeno-associated virus 2 genome and Rep 68/78 proteins interact with cellular sites of DNA damage.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 6, p. 985, doi. 10.1093/hmg/ddab300

By:

Boftsi, Maria;
Whittle, Fawn B;
Wang, Juexin;
Shepherd, Phoenix;
Burger, Lisa R;
Kaifer, Kevin A;
Lorson, Christian L;
Joshi, Trupti;
Pintel, David J;
Majumder, Kinjal

Publication type:

Article

Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 6, p. 914, doi. 10.1093/hmg/ddab297

By:

Monteillet, Laure;
Labrune, Philippe;
Hochuli, Michel;
Cao, Jeremy Do;
Tortereau, Antonin;
Miliano, Alexane Cannella;
Ardon-Zitoun, Carine;
Duchampt, Adeline;
Silva, Marine;
Verzieux, Vincent;
Mithieux, Gilles;
Rajas, Fabienne

Publication type:

Article

Seed sequence polymorphism rs2168518 and allele-specific target gene regulation of hsa-miR-4513.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 6, p. 875, doi. 10.1093/hmg/ddab292

By:

Kiel, Christina;
Strunz, Tobias;
Hasler, Daniele;
Meister, Gunter;
Grassmann, Felix;
Weber, Bernhard H F

Publication type:

Article

Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation of OBFC1.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 6, p. 863, doi. 10.1093/hmg/ddab293

By:

Cardinale, Antonella;
Cantalupo, Sueva;
Lasorsa, Vito Alessandro;
Montella, Annalaura;
Cimmino, Flora;
Succoio, Mariangela;
Vermeulen, Michiel;
Baltissen, Marijke P;
Esposito, Matteo;
Avitabile, Marianna;
Formicola, Daniela;
Testori, Alessandro;
Bonfiglio, Ferdinando;
Ghiorzo, Paola;
Scalvenzi, Massimiliano;
Ayala, Fabrizio;
Zambrano, Nicola;
Iles, Mark M;
Xu, Mai;
Law, Matthew H

Publication type:

Article

FUS-induced neurotoxicity is prevented by inhibiting GSK-3β in a Drosophila model of amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 6, p. 850, doi. 10.1093/hmg/ddab290

By:

Choi, Hyun-Jun;
Lee, Ji Young;
Cha, Sun Joo;
Han, Yeo Jeong;
Yoon, Ja Hoon;
Kim, Hyung-Jun;
Kim, Kiyoung

Publication type:

Article

Meta-GWAS of PCSK9 levels detects two novel loci at APOB and TM6SF2.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 6, p. 999, doi. 10.1093/hmg/ddab279

By:

Pott, Janne;
Gådin, Jesper R;
Theusch, Elizabeth;
Kleber, Marcus E;
Delgado, Graciela E;
Kirsten, Holger;
Hauck, Stefanie M;
Burkhardt, Ralph;
Scharnagl, Hubert;
Krauss, Ronald M;
Loeffler, Markus;
März, Winfried;
Thiery, Joachim;
Silveira, Angela;
Hooft, Ferdinand M van't;
Scholz, Markus

Publication type:

Article

novel potent GSK3 inhibitor AF3581 reverts fragile X syndrome phenotype.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 6, p. 839, doi. 10.1093/hmg/ddab251

By:

Porceddu, Pier Francesca;
Ciampoli, Mariasole;
Romeo, Elisa;
Garrone, Beatrice;
Durando, Lucia;
Milanese, Claudio;
Giorgio, Francesco Paolo Di;
Reggiani, Angelo

Publication type:

Article