Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 24

Results: 15

Erratum to: Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 24, p. 4295, doi. 10.1093/hmg/ddy230

By:

Estruch, Sara B;
Graham, Sarah A;
Quevedo, Martí;
Vino, Arianna;
Dekkers, Dick H W;
Deriziotis, Pelagia;
Sollis, Elliot;
Demmers, Jeroen;
Poot, Raymond A;
Fisher, Simon E

Publication type:

Article

genome-wide association study for rheumatoid arthritis replicates previous HLA and non-HLA associations in a cohort from South Africa.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 24, p. 4286, doi. 10.1093/hmg/ddac178

By:

Mathebula, Evans M;
Sengupta, Dhriti;
Govind, Nimmisha;
Laufer, Vincent A;
Jr, S Louis Bridges;
Tikly, Mohammed;
Ramsay, Michèle;
Choudhury, Ananyo

Publication type:

Article

lncRNA KTN1-AS1 co-regulates a variety of Myc-target genes and enhances proliferation of Burkitt lymphoma cells.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 24, p. 4193, doi. 10.1093/hmg/ddac159

By:

Winkle, Melanie;
Tayari, Mina M;
Kok, Klaas;
Duns, Gerben;
Grot, Natalia;
Kazimierska, Marta;
Seitz, Annika;
Jong, Debora de;
Koerts, Jasper;
Diepstra, Arjan;
Dzikiewicz-Krawczyk, Agnieszka;
Steidl, Christian;
Kluiver, Joost;
van den Berg, Anke

Publication type:

Article

Non-cell-autonomous activation of hedgehog signaling contributes to disease progression in a mouse model of renal cystic ciliopathy.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 24, p. 4228, doi. 10.1093/hmg/ddac175

By:

Hsieh, Chia-Ling;
Jerman, Stephanie Justine;
Sun, Zhaoxia

Publication type:

Article

ETS1 loss in mice impairs cardiac outflow tract septation via a cell migration defect autonomous to the neural crest.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 24, p. 4217, doi. 10.1093/hmg/ddac174

By:

Lin, Lizhu;
Pinto, Antonella;
Wang, Lu;
Fukatsu, Kazumi;
Yin, Yan;
Bamforth, Simon D;
Bronner, Marianne E;
Evans, Sylvia M;
Nie, Shuyi;
Anderson, Robert H;
Terskikh, Alexey V;
Grossfeld, Paul D

Publication type:

Article

Convergent biological pathways underlying the Kallmann syndrome-linked genes Hs6st1 and Fgfr1.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 24, p. 4207, doi. 10.1093/hmg/ddac172

By:

Moon, Sohyun;
Zhao, Ying-Tao

Publication type:

Article

novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 24, p. 4255, doi. 10.1093/hmg/ddac170

By:

Veneri, Francesca A;
Prada, Valeria;
Mastrangelo, Rosa;
Ferri, Cinzia;
Nobbio, Lucilla;
Passalacqua, Mario;
Milanesi, Maria;
Bianchi, Francesca;
Carro, Ubaldo Del;
Vallat, Jean-Michel;
Duong, Phu;
Svaren, John;
Schenone, Angelo;
Grandis, Marina;
D'Antonio, Maurizio

Publication type:

Article

Identification of new RAD51D-regulating microRNAs that also emerge as potent inhibitors of the Fanconi anemia/homologous recombination pathways.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 24, p. 4241, doi. 10.1093/hmg/ddac177

By:

Hater, Nina;
Iwaniuk, Katharina M;
Leifeld, Carina;
Grüten, Pia;
Wiek, Constanze;
Raba, Katharina;
Zhang, Fan;
Fischer, Johannes C;
Andreassen, Paul R;
Hanenberg, Helmut;
Trompeter, Hans-Ingo

Publication type:

Article

De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 24, p. 4173, doi. 10.1093/hmg/ddac166

By:

Suzuki, Hisato;
Li, Simo;
Tokutomi, Tomoharu;
Takeuchi, Chisen;
Takahashi, Miyuki;
Yamada, Mamiko;
Okuno, Hironobu;
Miya, Fuyuki;
Takenouchi, Toshiki;
Numabe, Hironao;
Kosaki, Kenjiro;
Ohshima, Toshio

Publication type:

Article

Talin variant P229S compromises integrin activation and associates with multifaceted clinical symptoms.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 24, p. 4159, doi. 10.1093/hmg/ddac163

By:

Azizi, Latifeh;
Varela, Lorena;
Turkki, Paula;
Mykuliak, Vasyl V;
Korpela, Sanna;
Ihalainen, Teemu O;
Church, Joseph;
Hytönen, Vesa P;
Goult, Benjamin T

Publication type:

Article

Mendelian randomization study to assess the genetic liability of gastroesophageal reflux disease for cardiovascular diseases and risk factors.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 24, p. 4275, doi. 10.1093/hmg/ddac162

By:

Sun, Xingang;
Chen, Lu;
Zheng, Liangrong

Publication type:

Article

Clock genes rescue nphp mutations in zebrafish.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 24, p. 4143, doi. 10.1093/hmg/ddac160

By:

Kayser, Nicolas;
Zaiser, Friedemann;
Veenstra, Anna C;
Wang, Hui;
Göcmen, Burulca;
Eckert, Priska;
Franz, Henriette;
Köttgen, Anna;
Walz, Gerd;
Yakulov, Toma A

Publication type:

Article

Natural history of KBG syndrome in a large European cohort.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 24, p. 4131, doi. 10.1093/hmg/ddac167

By:

Loberti, Lorenzo;
Bruno, Lucia Pia;
Granata, Stefania;
Doddato, Gabriella;
Resciniti, Sara;
Fava, Francesca;
Carullo, Michele;
Rahikkala, Elisa;
Jouret, Guillaume;
Menke, Leonie A;
Lederer, Damien;
Vrielynck, Pascal;
Ryba, Lukáš;
Brunetti-Pierri, Nicola;
Lasa-Aranzasti, Amaia;
Cueto-González, Anna Maria;
Trujillano, Laura;
Valenzuela, Irene;
Tizzano, Eduardo F;
Spinelli, Alessandro Mauro

Publication type:

Article

ACE2 and TMPRSS2 SARS-CoV-2 infectivity genes: deep mutational scanning and characterization of missense variants.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 24, p. 4183, doi. 10.1093/hmg/ddac157

By:

Zhang, Lingxin;
Sarangi, Vivekananda;
Liu, Duan;
Ho, Ming-Fen;
Grassi, Angela R;
Wei, Lixuan;
Moon, Irene;
Vierkant, Robert A;
Larson, Nicholas B;
Lazaridis, Konstantinos N;
Athreya, Arjun P;
Wang, Liewei;
Weinshilboum, Richard

Publication type:

Article

Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 24, p. 4121, doi. 10.1093/hmg/ddac156

By:

Batzios, Spyros;
Tal, Galit;
DiStasio, Andrew T;
Peng, Yanyan;
Charalambous, Christiana;
Nicolaides, Paola;
Kamsteeg, Erik-Jan;
Korman, Stanley H;
Mandel, Hanna;
Steinbach, Peter J;
Yi, Ling;
Fair, Summer R;
Hester, Mark E;
Drousiotou, Anthi;
Kaler, Stephen G

Publication type:

Article