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

Results: 13

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
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
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
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
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
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
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
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
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
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
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
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