Works matching IS 09646906 AND DT 2023 AND VI 32 AND IP 22

Results: 9

Correction to: Protective effects of mitophagy enhancers against amyloid beta induced mitochondrial and synaptic toxicities in Alzheimer disease.

Published in:: Human Molecular Genetics, 2023, v. 32, n. 22, p. 3205, doi. 10.1093/hmg/ddad156
Publication type:: Article

Correction to: Brain-specific heterozygous loss-of-function of ATP2A2, endoplasmic reticulum Ca<sup>2+</sup> pump responsible for Darier's disease, causes behavioral abnormalities and a hyper-dopaminergic state.

Published in:: Human Molecular Genetics, 2023, v. 32, n. 22, p. 3204, doi. 10.1093/hmg/ddad151
Publication type:: Article

Genes positively regulated by Mef2c in cortical neurons are enriched for common genetic variation associated with IQ and educational attainment.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 22, p. 3194, doi. 10.1093/hmg/ddad142

By:

Fahey, Laura;
Ali, Deema;
Donohoe, Gary;
Broin, Pilib Ó;
Morris, Derek W

Publication type:

Article

Identification of blood protein biomarkers associated with prostate cancer risk using genetic prediction models: analysis of over 140,000 subjects.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 22, p. 3181, doi. 10.1093/hmg/ddad139

By:

Zhong, Hua;
Zhu, Jingjing;
Liu, Shuai;
Ghoneim, Dalia H;
Surendran, Praveen;
Liu, Tao;
Fahle, Sarah;
Butterworth, Adam;
Alam, Md Ashad;
Deng, Hong-Wen;
Yu, Herbert;
Wu, Chong;
Wu, Lang

Publication type:

Article

The role of the FSGS disease gene product and nuclear pore protein NUP205 in regulating nuclear localization and activity of transcriptional regulators YAP and TAZ.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 22, p. 3153, doi. 10.1093/hmg/ddad135

By:

Ester, Lioba;
Cabrita, Inês;
Ventzke, Michel;
Kieckhöfer, Emilia;
Christodoulou, Marita;
Mandel, Amrei M;
Diefenhardt, Paul;
Fabretti, Francesca;
Benzing, Thomas;
Habbig, Sandra;
Schermer, Bernhard

Publication type:

Article

Heterogeneous splicing patterns resulting from KIF5A variants associated with amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 22, p. 3166, doi. 10.1093/hmg/ddad134

By:

Pino, Megan G;
Rich, Kelly A;
Hall, Nicholas J;
Jones, Meredith L;
Fox, Ashley;
Musier-Forsyth, Karin;
Kolb, Stephen J

Publication type:

Article

Serum biomarkers are altered in UK Biobank participants with mosaic chromosomal alterations.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 22, p. 3146, doi. 10.1093/hmg/ddad133

By:

Hubbard, Aubrey K;
Brown, Derek W;
Zhou, Weiyin;
Lin, Shu-Hong;
Genovese, Giulio;
Chanock, Stephen J;
Machiela, Mitchell J

Publication type:

Article

Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 22, p. 3135, doi. 10.1093/hmg/ddad131

By:

Crooks, Daniel R;
Cawthon, Geetha Mariah;
Fitzsimmons, Christina M;
Perez, Minervo;
Ricketts, Christopher J;
Vocke, Cathy D;
Yang, Ye;
Middelton, Lindsay;
Nielsen, Debbie;
Schmidt, Laura S;
Tandon, Mayank;
Merino, Maria J;
Ball, Mark W;
Meier, Jordan L;
Batista, Pedro J;
Linehan, William Marston

Publication type:

Article

Epigenotype–genotype–phenotype correlations in SETD1A and SETD2 chromatin disorders.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 22, p. 3123, doi. 10.1093/hmg/ddad079

By:

Lee, Sunwoo;
Menzies, Lara;
Hay, Eleanor;
Ochoa, Eguzkine;
Docquier, France;
Rodger, Fay;
Deshpande, Charu;
Foulds, Nicola C;
Jacquemont, Sébastien;
Jizi, Khadije;
Kiep, Henriette;
Kraus, Alison;
Löhner, Katharina;
Morrison, Patrick J;
Popp, Bernt;
Richardson, Ruth;
Haeringen, Arie van;
Martin, Ezequiel;
Toribio, Ana;
Li, Fudong

Publication type:

Article