Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 15

Results: 15

CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 15, p. 2571, doi. 10.1093/hmg/ddac055

By:

Wilson, Matthew P;
Durin, Zoé;
Unal, Özlem;
Ng, Bobby G;
Marrecau, Thomas;
Keldermans, Liesbeth;
Souche, Erika;
Rymen, Daisy;
Gündüz, Mehmet;
Köse, Gülşen;
Sturiale, Luisa;
Garozzo, Domenico;
Freeze, Hudson H;
Jaeken, Jaak;
Foulquier, François;
Matthijs, Gert

Publication type:

Article

Ubiquitination at the lysine 27 residue of the Parkin ubiquitin-like domain is suggestive of a new mechanism of Parkin activation.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 15, p. 2623, doi. 10.1093/hmg/ddac064

By:

Liu, Jun-Yi;
Inoshita, Tsuyoshi;
Shiba-Fukushima, Kahori;
Yoshida, Shigeharu;
Ogata, Kosuke;
Ishihama, Yasushi;
Imai, Yuzuru;
Hattori, Nobutaka

Publication type:

Article

Correction to: Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 15, p. 2668, doi. 10.1093/hmg/ddac058

By:

Chi, Wanhao;
Iyengar, Atulya S R;
Albersen, Monique;
Bosma, Marjolein;
Verhoeven-Duif, Nanda M;
Wu, Chun-Fang;
Zhuang, Xiaoxi

Publication type:

Article

Thyroid function, pernicious anemia and erythropoiesis: a two-sample Mendelian randomization study.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 15, p. 2548, doi. 10.1093/hmg/ddac052

By:

Kjaergaard, Alisa D;
Teumer, Alexander;
Marouli, Eirini;
Deloukas, Panos;
Kuś, Aleksander;
Sterenborg, Rosalie;
Åsvold, Bjørn O;
Medici, Marco;
Ellervik, Christina

Publication type:

Article

mTOR pathway repressing expression of FoxO3 is a potential mechanism involved in neonatal white matter dysplasia.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 15, p. 2508, doi. 10.1093/hmg/ddac049

By:

Liu, Xiuyun;
Dong, Chen;
Liu, Kaiyi;
Chen, Huiyao;
Liu, Bo;
Dong, Xinran;
Qian, Yanyan;
Wu, Bingbing;
Lin, Yifeng;
Wang, Huijun;
Yang, Lin;
Zhou, Wenhao

Publication type:

Article

Whole-exome sequencing and functional validation reveal a rare missense variant in MMP7 that confers ovarian endometriosis risk.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 15, p. 2595, doi. 10.1093/hmg/ddac062

By:

Liu, Faying;
Zhou, Jiangyan;
Zhang, Xiaoling;
Fang, Shufen;
Liu, Rongfang;
Chen, Ge;
Luo, Yong;
Zhang, Ziyu;
Cheng, Yufen;
Wang, Liqun;
Guo, Jiubai;
Zou, Yang

Publication type:

Article

PCARE requires coiled coil, RP62 kinase-binding and EVH1 domain-binding motifs for ciliary expansion.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 15, p. 2560, doi. 10.1093/hmg/ddac057

By:

Afanasyeva, Tess A V;
Schnellbach, Yan-Ting;
Gibson, Toby J;
Roepman, Ronald;
Collin, Rob W J

Publication type:

Article

L1 chimeric transcripts are expressed in healthy brain and their deregulation in glioma follows that of their host locus.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 15, p. 2606, doi. 10.1093/hmg/ddac056

By:

Pinson, Marie-Elisa;
Court, Franck;
Masson, Aymeric;
Renaud, Yoan;
Fantini, Allison;
Bacoeur-Ouzillou, Ophélie;
Barriere, Marie;
Pereira, Bruno;
Guichet, Pierre-Olivier;
Chautard, Emmanuel;
Karayan-Tapon, Lucie;
Verrelle, Pierre;
Arnaud, Philippe;
Vaurs-Barrière, Catherine

Publication type:

Article

RIPK4 regulates cell–cell adhesion in epidermal development and homeostasis.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 15, p. 2535, doi. 10.1093/hmg/ddac046

By:

Fortugno, Paola;
Monetta, Rosanna;
Belli, Manuel;
Botti, Elisabetta;
Angelucci, Francesco;
Palmerini, Maria Grazia;
Nottola, Stefania Annarita;
Luca, Chiara De;
Ceccarini, Marina;
Salvatore, Marco;
Bianchi, Luca;
Macioce, Pompeo;
Teson, Massimo;
Ricci, Francesco;
Network, Italian Undiagnosed Diseases;
Macchiarelli, Guido;
Didona, Biagio;
Costanzo, Antonio;
Castiglia, Daniele;
Brancati, Francesco

Publication type:

Article

Genome-wide association study and functional follow-up identify 14q12 as a candidate risk locus for cervical cancer.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 15, p. 2483, doi. 10.1093/hmg/ddac031

By:

Ramachandran, Dhanya;
Dennis, Joe;
Fachal, Laura;
Schürmann, Peter;
Bousset, Kristine;
Hülse, Fabienne;
Mao, Qianqian;
Wang, Yingying;
Jentschke, Matthias;
Böhmer, Gerd;
Strauß, Hans-Georg;
Hirchenhain, Christine;
Schmidmayr, Monika;
Müller, Florian;
Runnebaum, Ingo;
Hein, Alexander;
Stübs, Frederik;
Koch, Martin;
Ruebner, Matthias;
Beckmann, Matthias W

Publication type:

Article

Non-canonical initiation factors modulate repeat-associated non-AUG translation.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 15, p. 2521, doi. 10.1093/hmg/ddac021

By:

Green, Katelyn M;
Miller, Shannon L;
Malik, Indranil;
Todd, Peter K

Publication type:

Article

CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 15, p. 2582, doi. 10.1093/hmg/ddac018

By:

Levy, Tess;
Lerman, Bonnie;
Halpern, Danielle;
Frank, Yitzchak;
Layton, Christina;
Zweifach, Jessica;
Siper, Paige M;
Buxbaum, Joseph D;
Kolevzon, Alexander

Publication type:

Article

Phenome-wide association study of the major histocompatibility complex region in the Korean population identifies novel association signals.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 15, p. 2655, doi. 10.1093/hmg/ddac016

By:

Kim, Chanwoo;
Kim, Young Jin;
Choi, Wanson;
Jang, Hye-Mi;
Hwang, Mi Yeong;
Jung, Sunwoo;
Lim, Hyunjoon;
Hong, Sang Bin;
Yoon, Kyungheon;
Kim, Bong-Jo;
Park, Hyun-Young;
Han, Buhm

Publication type:

Article

XBP1 variant 1 promotes mitosis of cancer cells involving upregulation of the polyglutamylase TTLL6.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 15, p. 2639, doi. 10.1093/hmg/ddac010

By:

Zhong, Yongwang;
Yan, Wenjing;
Ruan, Jingjing;
Fang, Mike;
Yu, Changjun;
Du, Shaojun;
Rai, Ganesha;
Tao, Dingyin;
Henderson, Mark J;
Fang, Shengyun

Publication type:

Article

Mitochondrial oxidative stress contributes to the pathological aggregation and accumulation of tau oligomers in Alzheimer's disease.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 15, p. 2498, doi. 10.1093/hmg/ddab363

By:

Du, Fang;
Yu, Qing;
Kanaan, Nicholas M;
Yan, Shirley ShiDu

Publication type:

Article