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