Works in Human Molecular Genetics, 2020, Vol 29, Issue 1

Results: 11

Ethnicity-specific and overlapping alterations of brain hydroxymethylome in Alzheimer's disease.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 1, p. 149, doi. 10.1093/hmg/ddz273

By:

Qin, Lixia;
Xu, Qian;
Li, Ziyi;
Chen, Li;
Li, Yujing;
Yang, Nannan;
Liu, Zhenhua;
Guo, Jifeng;
Shen, Lu;
Allen, Emily G;
Chen, Chao;
Ma, Chao;
Wu, Hao;
Zhu, Xiongwei;
Jin, Peng;
Tang, Beisha

Publication type:

Article

Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 1, p. 132, doi. 10.1093/hmg/ddz268

By:

Atac, David;
Koller, Samuel;
Hanson, James V M;
Feil, Silke;
Tiwari, Amit;
Bahr, Angela;
Baehr, Luzy;
Magyar, István;
Kottke, Raimund;
Gerth-Kahlert, Christina;
Berger, Wolfgang

Publication type:

Article

Cerebellar contribution to the cognitive alterations in SCA1: evidence from mouse models.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 1, p. 117, doi. 10.1093/hmg/ddz265

By:

Asher, Melissa;
Rosa, Juao-Guilherme;
Rainwater, Orion;
Duvick, Lisa;
Bennyworth, Michael;
Lai, Ruo-Yah;
CRC-SCA;
Kuo, Sheng-Han;
Cvetanovic, Marija

Publication type:

Article

Defective cell adhesion function of solute transporter, SLC4A11, in endothelial corneal dystrophies.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 1, p. 97, doi. 10.1093/hmg/ddz259

By:

Malhotra, Darpan;
Jung, Martin;
Fecher-Trost, Claudia;
Lovatt, Matthew;
Peh, Gary S L;
Noskov, Sergei;
Mehta, Jodhbir S;
Zimmermann, Richard;
Casey, Joseph R

Publication type:

Article

Genome-wide heritability analysis of severe malaria resistance reveals evidence of polygenic inheritance.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 1, p. 168, doi. 10.1093/hmg/ddz258

By:

Damena, Delesa;
Chimusa, Emile R

Publication type:

Article

Negative Regulator of Ubiquitin-Like Protein 1 modulates the autophagy–lysosomal pathway via p62 to facilitate the extracellular release of tau following proteasome impairment.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 1, p. 80, doi. 10.1093/hmg/ddz255

By:

Guarascio, Rosellina;
Salih, Dervis;
Yasvoina, Marina;
Edwards, Frances A;
Cheetham, Michael E;
van der Spuy, Jacqueline

Publication type:

Article

A transcriptome-wide association study implicates specific pre- and post-synaptic abnormalities in schizophrenia.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 1, p. 159, doi. 10.1093/hmg/ddz253

By:

Hall, Lynsey S;
Medway, Christopher W;
Pain, Oliver;
Pardiñas, Antonio F;
Rees, Elliott G;
Escott-Price, Valentina;
Pocklington, Andrew;
Bray, Nicholas J;
Holmans, Peter A;
Walters, James T R;
Owen, Michael J;
O'Donovan, Michael C

Publication type:

Article

AKT signaling promotes DNA damage accumulation and proliferation in polycystic kidney disease.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 1, p. 31, doi. 10.1093/hmg/ddz232

By:

Conduit, Sarah E;
Davies, Elizabeth M;
Ooms, Lisa M;
Gurung, Rajendra;
McGrath, Meagan J;
Hakim, Sandra;
Cottle, Denny L;
Smyth, Ian M;
Dyson, Jennifer M;
Mitchell, Christina A

Publication type:

Article

Inherited variants at 3q13.33 and 3p24.1 are associated with risk of diffuse large B-cell lymphoma and implicate immune pathways.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 1, p. 70, doi. 10.1093/hmg/ddz228

By:

Kleinstern, Geffen;
Yan, Huihuang;
Hildebrandt, Michelle A T;
Vijai, Joseph;
Berndt, Sonja I;
Ghesquières, Hervé;
McKay, James;
Wang, Sophia S;
Nieters, Alexandra;
Ye, Yuanqing;
Monnereau, Alain;
Brooks-Wilson, Angela R;
Lan, Qing;
Melbye, Mads;
Jackson, Rebecca D;
Teras, Lauren R;
Purdue, Mark P;
Vajdic, Claire M;
Vermeulen, Roel C H;
Giles, Graham G

Publication type:

Article

Protective effects of BACE1 inhibitory ligand molecules against amyloid beta-induced synaptic and mitochondrial toxicities in Alzheimer's disease.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 1, p. 49, doi. 10.1093/hmg/ddz227

By:

Pradeepkiran, Jangampalli Adi;
Reddy, Arubala P;
Yin, Xiangling;
Manczak, Maria;
Reddy, P Hemachandra

Publication type:

Article

Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 1, p. 20, doi. 10.1093/hmg/ddz214

By:

McNamara, Elyshia L;
Taylor, Rhonda L;
Clayton, Joshua S;
Goullee, Hayley;
Dilworth, Kimberley L;
Pinós, Tomàs;
Brull, Astrid;
Alexander, Ian E;
Lisowski, Leszek;
Ravenscroft, Gianina;
Laing, Nigel G;
Nowak, Kristen J

Publication type:

Article