Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 16

Results: 14

DDRGK1 is required for the proper development and maintenance of the growth plate cartilage.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 16, p. 2820, doi. 10.1093/hmg/ddac078

By:

Weisz-Hubshman, Monika;
Egunsula, Adetutu T;
Dawson, Brian;
Castellon, Alexis;
Jiang, Ming-Ming;
Chen-Evenson, Yuqing;
Zhiyin, Yu;
Lee, Brendan;
Bae, Yangjin

Publication type:

Article

Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 16, p. 2678, doi. 10.1093/hmg/ddac060

By:

Tzoumas, Nikolaos;
Kavanagh, David;
Cordell, Heather J;
Lotery, Andrew J;
Patel, Praveen J;
Steel, David H

Publication type:

Article

Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 16, p. 2751, doi. 10.1093/hmg/ddac070

By:

Huang, Yan;
Ma, Mengqi;
Mao, Xiao;
Pehlivan, Davut;
Kanca, Oguz;
Un-Candan, Feride;
Shu, Li;
Akay, Gulsen;
Mitani, Tadahiro;
Lu, Shenzhao;
Candan, Sukru;
Wang, Hua;
Xiao, Bo;
Lupski, James R;
Bellen, Hugo J

Publication type:

Article

Pregnenolone-methyl-ether enhances CLIP170 and microtubule functions improving spine maturation and hippocampal deficits related to CDKL5 deficiency.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 16, p. 2738, doi. 10.1093/hmg/ddac067

By:

Barbiero, Isabella;
Zamberletti, Erica;
Tramarin, Marco;
Gabaglio, Marina;
Peroni, Diana;
Rosa, Roberta De;
Baldin, Serena;
Bianchi, Massimiliano;
Rubino, Tiziana;
Kilstrup-Nielsen, Charlotte

Publication type:

Article

Correction to: Metformin induces lactate accumulation and accelerates renal cyst progression in Pkd1-deficient mice.

Published in:: Human Molecular Genetics, 2022, v. 31, n. 16, p. 2844, doi. 10.1093/hmg/ddac092
Publication type:: Article

Elongin C (ELOC/TCEB1)-associated von Hippel–Lindau disease.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 16, p. 2728, doi. 10.1093/hmg/ddac066

By:

Andreou, Avgi;
Yngvadottir, Bryndis;
Bassaganyas, Laia;
Clark, Graeme;
Martin, Ezequiel;
Whitworth, James;
Cornish, Alex J;
Consortium, Genomics England Research;
Houlston, Richard S;
Rich, Philip;
Egan, Catherine;
Hodgson, Shirley V;
Warren, Anne Y;
Snape, Katie;
Maher, Eamonn R

Publication type:

Article

Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 16, p. 2796, doi. 10.1093/hmg/ddac073

By:

Elfatih, Amal;
Da'as, Sahar I;
Abdelrahman, Doua;
Mbarek, Hamdi;
Mohammed, Idris;
Hasan, Waseem;
Fakhro, Khalid A;
Consortium, for the The Qatar Genome Program Research;
Estivill, Xavier;
Mifsud, Borbala

Publication type:

Article

Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axons.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 16, p. 2779, doi. 10.1093/hmg/ddac072

By:

Zhu, Peng-Peng;
Hung, Hui-Fang;
Batchenkova, Natalia;
Nixon-Abell, Jonathon;
Henderson, James;
Zheng, Pengli;
Renvoisé, Benoit;
Pang, Song;
Xu, C Shan;
Saalfeld, Stephan;
Funke, Jan;
Xie, Yuxiang;
Svara, Fabian;
Hess, Harald F;
Blackstone, Craig

Publication type:

Article

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 16, p. 2766, doi. 10.1093/hmg/ddac071

By:

Motta, Marialetizia;
Solman, Maja;
Bonnard, Adeline A;
Kuechler, Alma;
Pantaleoni, Francesca;
Priolo, Manuela;
Chandramouli, Balasubramanian;
Coppola, Simona;
Pizzi, Simone;
Zara, Erika;
Ferilli, Marco;
Kayserili, Hülya;
Onesimo, Roberta;
Leoni, Chiara;
Brinkmann, Julia;
Vial, Yoann;
Kamphausen, Susanne B;
Thomas-Teinturier, Cécile;
Guimier, Anne;
Cordeddu, Viviana

Publication type:

Article

Morphological, behavioral and cellular analyses revealed different phenotypes in Wolfram syndrome wfs1a and wfs1b zebrafish mutant lines.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 16, p. 2711, doi. 10.1093/hmg/ddac065

By:

Crouzier, Lucie;
Richard, Elodie M;
Diez, Camille;
Alzaeem, Hala;
Denus, Morgane;
Cubedo, Nicolas;
Delaunay, Thomas;
Glendenning, Emily;
Baxendale, Sarah;
Liévens, Jean-Charles;
Whitfield, Tanya T;
Maurice, Tangui;
Delprat, Benjamin

Publication type:

Article

SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 16, p. 2693, doi. 10.1093/hmg/ddac063

By:

Marrone, Lara;
Marchi, Paolo M;
Webster, Christopher P;
Marroccella, Raffaele;
Coldicott, Ian;
Reynolds, Steven;
Alves-Cruzeiro, João;
Yang, Zih-Liang;
Higginbottom, Adrian;
Khundadze, Mukhran;
Shaw, Pamela J;
Hübner, Christian A;
Livesey, Matthew R;
Azzouz, Mimoun

Publication type:

Article

Understanding the complex genetic architecture connecting rheumatoid arthritis, osteoporosis and inflammation: discovering causal pathways.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 16, p. 2810, doi. 10.1093/hmg/ddac061

By:

Kasher, Melody;
Williams, Frances M K;
Freidin, Maxim B;
Malkin, Ida;
Cherny, Stacey S;
Group, CHARGE Inflammation Working;
Livshits, Gregory

Publication type:

Article

Reduced telomere length in amniocytes: an early biomarker of abnormal fetal development?

Published in:

Human Molecular Genetics, 2022, v. 31, n. 16, p. 2669, doi. 10.1093/hmg/ddac054

By:

Goumy, Carole;
Veronese, Lauren;
Stamm, Rodrigue;
Domas, Quentin;
Hadjab, Kamil;
Gallot, Denis;
Laurichesse, Hélène;
Delabaere, Amélie;
Gouas, Laetitia;
Salaun, Gaelle;
Perbel-Richard, Céline;
Vago, Philippe;
Tchirkov, Andrei

Publication type:

Article

Genome-wide interaction analysis identified low-frequency variants with sex disparity in lung cancer risk.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 16, p. 2831, doi. 10.1093/hmg/ddac030

By:

Li, Yafang;
Xiao, Xiangjun;
Li, Jianrong;
Byun, Jinyoung;
Cheng, Chao;
Bossé, Yohan;
McKay, James;
Albanes, Demetrios;
Lam, Stephen;
Tardon, Adonina;
Chen, Chu;
Bojesen, Stig E;
Landi, Maria T;
Johansson, Mattias;
Risch, Angela;
Bickeböller, Heike;
Wichmann, H-Erich;
Christiani, David C;
Rennert, Gad;
Arnold, Susanne

Publication type:

Article