Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 21

Results: 13

Polynesian-specific copy number variant encompassing the MICA gene associates with gout.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 21, p. 3757, doi. 10.1093/hmg/ddac094

By:

Wang, Ke;
Cadzow, Murray;
Bixley, Matt;
Leask, Megan P;
Merriman, Marilyn E;
Yang, Qiangzhen;
Li, Zhiqiang;
Takei, Riku;
Phipps-Green, Amanda;
Major, Tanya J;
Topless, Ruth;
Dalbeth, Nicola;
King, Frances;
Murphy, Rinki;
Stamp, Lisa K;
Zoysa, Janak de;
Wang, Zhuo;
Shi, Yongyong;
Merriman, Tony R

Publication type:

Article

Retinoids rescue ceruloplasmin secretion and alleviate oxidative stress in Wilson's disease-specific hepatocytes.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 21, p. 3652, doi. 10.1093/hmg/ddac080

By:

Song, Dan;
Takahashi, Gou;
Zheng, Yun-Wen;
Matsuo-Takasaki, Mami;
Li, Jingyue;
Takami, Miho;
An, Yuri;
Hemmi, Yasuko;
Miharada, Natsumi;
Fujioka, Tsuyoshi;
Noguchi, Michiya;
Nakajima, Takashi;
Saito, Megumu K;
Nakamura, Yukio;
Oda, Tatsuya;
Miyaoka, Yuichiro;
Hayashi, Yohei

Publication type:

Article

Genetic and phenotypic links between obesity and extracellular vesicles.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 21, p. 3643, doi. 10.1093/hmg/ddac069

By:

Zhai, Ranran;
Pan, Lu;
Yang, Zhijian;
Li, Ting;
Ning, Zheng;
Pawitan, Yudi;
Wilson, James F;
Wu, Di;
Shen, Xia

Publication type:

Article

Investigating DNA methylation as a mediator of genetic risk in childhood acute lymphoblastic leukemia.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 21, p. 3741, doi. 10.1093/hmg/ddac137

By:

Xu, Keren;
Li, Shaobo;
Pandey, Priyatama;
Kang, Alice Y;
Morimoto, Libby M;
Mancuso, Nicholas;
Ma, Xiaomei;
Metayer, Catherine;
Wiemels, Joseph L;
Smith, Adam J de

Publication type:

Article

Functional analysis of rare genetic variants in complement factor I in advanced age-related macular degeneration.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 21, p. 3683, doi. 10.1093/hmg/ddac103

By:

Java, Anuja;
Pozzi, Nicola;
Schroeder, Molly C;
Hu, Zheng;
Huan, Tianxiao;
Seddon, Johanna M;
Atkinson, John

Publication type:

Article

Exome risk score for predicting susceptibility to and severity of isolated thoracic aortic aneurysm.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 21, p. 3672, doi. 10.1093/hmg/ddac099

By:

Li, Yang;
Song, Li;
Rong, Wei;
Zhang, Yuanwei;
Yao, Xiaoming;
Fang, Xiaodong;
Li, Yulin;
Du, Jie

Publication type:

Article

Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4).

Published in:

Human Molecular Genetics, 2022, v. 31, n. 21, p. 3715, doi. 10.1093/hmg/ddac121

By:

Jefri, Malvin;
Zhang, Xin;
Stumpf, Patrick S;
Zhang, Li;
Peng, Huashan;
Hettige, Nuwan;
Theroux, Jean-Francois;
Aouabed, Zahia;
Wilson, Khadija;
Deshmukh, Shriya;
Antonyan, Lilit;
Ni, Anjie;
Alsuwaidi, Shaima;
Zhang, Ying;
Jabado, Nada;
Garcia, Benjamin A;
Schuppert, Andreas;
Bjornsson, Hans T;
Ernst, Carl

Publication type:

Article

RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 21, p. 3729, doi. 10.1093/hmg/ddac120

By:

Paul, Franziska;
Ng, Calista;
Sahari, Umar Bin Mohamad;
Nafissi, Shahriar;
Nilipoor, Yalda;
Tavasoli, Ali Reza;
Bonnard, Carine;
Wong, Pui-Mun;
Nabavizadeh, Nasrinsadat;
Altunoğlu, Umut;
Estiar, Mehrdad A;
Majoie, Charles B;
Lee, Hane;
Nelson, Stanley F;
Gan-Or, Ziv;
Rouleau, Guy A;
Veldhoven, Paul P Van;
Massie, Rami;
Hennekam, Raoul C;
Kariminejad, Ariana

Publication type:

Article

Alpha-synuclein overexpression induces epigenomic dysregulation of glutamate signaling and locomotor pathways.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 21, p. 3694, doi. 10.1093/hmg/ddac104

By:

Schaffner, Samantha L;
Wassouf, Zinah;
Lazaro, Diana F;
Xylaki, Mary;
Gladish, Nicole;
Lin, David T S;
MacIsaac, Julia;
Ramadori, Katia;
Hentrich, Thomas;
Schulze-Hentrich, Julia M;
Outeiro, Tiago F;
Kobor, Michael S

Publication type:

Article

Mitochondrial DNA variants segregate during human preimplantation development into genetically different cell lineages that are maintained postnatally.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 21, p. 3629, doi. 10.1093/hmg/ddac059

By:

Mertens, Joke;
Regin, Marius;
Munck, Neelke De;
Deckersberg, Edouard Couvreu de;
Belva, Florence;
Sermon, Karen;
Tournaye, Herman;
Blockeel, Christophe;
Velde, Hilde Van de;
Spits, Claudia

Publication type:

Article

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 21, p. 3597, doi. 10.1093/hmg/ddac040

By:

Lee, Richard G;
Balasubramaniam, Shanti;
Stentenbach, Maike;
Kralj, Tom;
McCubbin, Tim;
Padman, Benjamin;
Smith, Janine;
Riley, Lisa G;
Priyadarshi, Archana;
Peng, Liuyu;
Nuske, Madison R;
Webster, Richard;
Peacock, Ken;
Roberts, Philip;
Stark, Zornitza;
Lemire, Gabrielle;
Ito, Yoko A;
Consortium, Care4Rare Canada;
Boycott, Kym M;
Geraghty, Michael T

Publication type:

Article

Longitudinal multimodal MRI characterization of a knock-in mouse model of Huntington's disease reveals early gray and white matter alterations.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 21, p. 3581, doi. 10.1093/hmg/ddac036

By:

Pérot, Jean-Baptiste;
Célestine, Marina;
Palombo, Marco;
Dhenain, Marc;
Humbert, Sandrine;
Brouillet, Emmanuel;
Flament, Julien

Publication type:

Article

Constitutive nuclear accumulation of endogenous alpha-synuclein in mice causes motor impairment and cortical dysfunction, independent of protein aggregation.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 21, p. 3613, doi. 10.1093/hmg/ddac035

By:

Geertsma, Haley M;
Suk, Terry R;
Ricke, Konrad M;
Horsthuis, Kyra;
Parmasad, Jean-Louis A;
Fisk, Zoe A;
Callaghan, Steve M;
Rousseaux, Maxime W C

Publication type:

Article