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

Results: 13

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
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
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
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
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
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