Works matching IS 09646906 AND DT 2022 AND VI 31 AND IP 11

Results: 13

Modeling gain-of-function and loss-of-function components of SPAST-based hereditary spastic paraplegia using transgenic mice.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 11, p. 1844, doi. 10.1093/hmg/ddab367

By:

Piermarini, Emanuela;
Akarsu, Seyma;
Connors, Theresa;
Kneussel, Matthias;
Lane, Michael A;
Morfini, Gerardo;
Karabay, Arzu;
Baas, Peter W;
Qiang, Liang

Publication type:

Article

Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 11, p. 1884, doi. 10.1093/hmg/ddac028

By:

Drongitis, Denise;
Caterino, Marianna;
Verrillo, Lucia;
Santonicola, Pamela;
Costanzo, Michele;
Poeta, Loredana;
Attianese, Benedetta;
Barra, Adriano;
Terrone, Gaetano;
Lioi, Maria Brigida;
Paladino, Simona;
Schiavi, Elia Di;
Costa, Valerio;
Ruoppolo, Margherita;
Miano, Maria Giuseppina

Publication type:

Article

Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 11, p. 1909, doi. 10.1093/hmg/ddac004

By:

Guggenheim, Jeremy A;
Clark, Rosie;
Cui, Jiangtian;
Terry, Louise;
Patasova, Karina;
Haarman, Annechien E G;
Musolf, Anthony M;
Verhoeven, Virginie J M;
Klaver, Caroline C W;
Bailey-Wilson, Joan E;
Hysi, Pirro G;
Williams, Cathy;
Consortium, CREAM;
Consortium, UK Biobank Eye Vision

Publication type:

Article

Transcriptome-wide association study identifies multiple genes and pathways associated with thyroid function.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 11, p. 1871, doi. 10.1093/hmg/ddab371

By:

Ke, Xin;
Tian, Xin;
Yao, Shi;
Wu, Hao;
Duan, Yuan-Yuan;
Wang, Nai-Ning;
Shi, Wei;
Yang, Tie-Lin;
Dong, Shan-Shan;
Huang, Dageng;
Guo, Yan

Publication type:

Article

Genome-wide association study for four measures of epigenetic age acceleration and two epigenetic surrogate markers using DNA methylation data from Taiwan Biobank.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 11, p. 1860, doi. 10.1093/hmg/ddab369

By:

Lin, Wan-Yu

Publication type:

Article

Assessment of cerebral spinal fluid biomarkers and microRNA-mediated disease mechanisms in spinal muscular atrophy patient samples.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 11, p. 1830, doi. 10.1093/hmg/ddab365

By:

Welby, Emily;
Rehborg, Rebecca J;
Harmelink, Matthew;
Ebert, Allison D

Publication type:

Article

Elevated plasma complement components in facioscapulohumeral dystrophy.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 11, p. 1821, doi. 10.1093/hmg/ddab364

By:

Wong, Chao-Jen;
Wang, Leo;
Holers, V Michael;
Frazer-Abel, Ashley;
Maarel, Silvère M van der;
Tawil, Rabi;
Statland, Jeffrey M;
Tapscott, Stephen J;
Network, ReSolve

Publication type:

Article

Genetic architecture of microRNA expression and its link to complex diseases in the Japanese population.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 11, p. 1806, doi. 10.1093/hmg/ddab361

By:

Sonehara, Kyuto;
Sakaue, Saori;
Maeda, Yuichi;
Hirata, Jun;
Kishikawa, Toshihiro;
Yamamoto, Kenichi;
Matsuoka, Hidetoshi;
Yoshimura, Maiko;
Nii, Takuro;
Ohshima, Shiro;
Kumanogoh, Atsushi;
Okada, Yukinori

Publication type:

Article

partial reduction of Drp1 improves cognitive behavior and enhances mitophagy, autophagy and dendritic spines in a transgenic Tau mouse model of Alzheimer disease.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 11, p. 1788, doi. 10.1093/hmg/ddab360

By:

Kandimalla, Ramesh;
Manczak, Maria;
Pradeepkiran, Jangampalli Adi;
Morton, Hallie;
Reddy, P Hemachandra

Publication type:

Article

Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 11, p. 1776, doi. 10.1093/hmg/ddab359

By:

Chekuri, Anil;
Logan, Emily M;
Krauson, Aram J;
Salani, Monica;
Ackerman, Sophie;
Kirchner, Emily G;
Bolduc, Jessica M;
Wang, Xia;
Dietrich, Paula;
Dragatsis, Ioannis;
Vandenberghe, Luk H;
Slaugenhaupt, Susan A;
Morini, Elisabetta

Publication type:

Article

Genetic landscape of human mitochondrial genome using whole-genome sequencing.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 11, p. 1747, doi. 10.1093/hmg/ddab358

By:

Wang, Yijing;
Zhao, Guihu;
Fang, Zhenghuan;
Pan, Hongxu;
Zhao, Yuwen;
Wang, Yige;
Zhou, Xun;
Wang, Xiaomeng;
Luo, Tengfei;
Zhang, Yi;
Wang, Zheng;
Chen, Qian;
Dong, Lijie;
Huang, Yuanfeng;
Zhou, Qiao;
Xia, Lu;
Li, Bin;
Guo, Jifeng;
Xia, Kun;
Tang, Beisha

Publication type:

Article

Fetal alleles predisposing to metabolically favorable adiposity are associated with higher birth weight.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 11, p. 1762, doi. 10.1093/hmg/ddab356

By:

Thompson, William D;
Beaumont, Robin N;
Kuang, Alan;
Warrington, Nicole M;
Ji, Yingjie;
Tyrrell, Jessica;
Wood, Andrew R;
Scholtens, Denise M;
Knight, Bridget A;
Evans, David M;
Jr, William L Lowe;
Santorelli, Gillian;
Azad, Raq;
Mason, Dan;
Hattersley, Andrew T;
Frayling, Timothy M;
Yaghootkar, Hanieh;
Borges, Maria Carolina;
Lawlor, Deborah A;
Freathy, Rachel M

Publication type:

Article

Intronic elements associated with insomnia and restless legs syndrome exhibit cell-type-specific epigenetic features contributing to MEIS1 regulation.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 11, p. 1733, doi. 10.1093/hmg/ddab355

By:

Lam, Daniel D;
Nikolic, Ana Antic;
Zhao, Chen;
Mirza-Schreiber, Nazanin;
Krężel, Wojciech;
Oexle, Konrad;
Winkelmann, Juliane

Publication type:

Article