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Page 1
Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
de Masfrand S, Cogné B, Nizon M, Deb W, Goldenberg A, Lecoquierre F, Nicolas G, Bournez M, Vitobello A, Mau-Them FT, le Guyader G, Bilan F, Bauer P, Zweier C, Piard J, Pasquier L, Bézieau S, Gerard B, Faivre L, Saugier-Veber P, Piton A, Isidor B. de Masfrand S, et al. Eur J Med Genet. 2024 Jun;69:104932. doi: 10.1016/j.ejmg.2024.104932. Epub 2024 Mar 5. Eur J Med Genet. 2024. PMID: 38453051 Free article.
The patients carried different variants (1 splice-site variant, 4 nonsense and 7 frameshift) in 11 genes: CAMTA1, MBD5, KMT2C, KMT2E, ZMIZ1, MN1, NDUFB11, CUL3, MED13, ARID2 and RERE. Grandparents have been tested in 6 families, and each time the variant was confirmed de n …
The patients carried different variants (1 splice-site variant, 4 nonsense and 7 frameshift) in 11 genes: CAMTA1, MBD5, KMT2C, KMT2E, ZMIZ1, …
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
Gharahkhani P, Jorgenson E, Hysi P, Khawaja AP, Pendergrass S, Han X, Ong JS, Hewitt AW, Segrè AV, Rouhana JM, Hamel AR, Igo RP Jr, Choquet H, Qassim A, Josyula NS, Cooke Bailey JN, Bonnemaijer PWM, Iglesias A, Siggs OM, Young TL, Vitart V, Thiadens AAHJ, Karjalainen J, Uebe S, Melles RB, Nair KS, Luben R, Simcoe M, Amersinghe N, Cree AJ, Hohn R, Poplawski A, Chen LJ, Rong SS, Aung T, Vithana EN; NEIGHBORHOOD consortium; ANZRAG consortium; Biobank Japan project; FinnGen study; UK Biobank Eye and Vision Consortium; GIGA study group; 23 and Me Research Team; Tamiya G, Shiga Y, Yamamoto M, Nakazawa T, Currant H, Birney E, Wang X, Auton A, Lupton MK, Martin NG, Ashaye A, Olawoye O, Williams SE, Akafo S, Ramsay M, Hashimoto K, Kamatani Y, Akiyama M, Momozawa Y, Foster PJ, Khaw PT, Morgan JE, Strouthidis NG, Kraft P, Kang JH, Pang CP, Pasutto F, Mitchell P, Lotery AJ, Palotie A, van Duijn C, Haines JL, Hammond C, Pasquale LR, Klaver CCW, Hauser M, Khor CC, Mackey DA, Kubo M, Cheng CY, Craig JE, MacGregor S, Wiggs JL. Gharahkhani P, et al. Nat Commun. 2021 Feb 24;12(1):1258. doi: 10.1038/s41467-020-20851-4. Nat Commun. 2021. PMID: 33627673 Free PMC article.
Integration of multiple lines of genetic evidence support the functional relevance of the identified POAG risk loci and highlight potential contributions of several genes to POAG pathogenesis, including SVEP1, RERE, VCAM1, ZNF638, CLIC5, SLC2A12, YAP1, MXRA5, and SMAD6. Se …
Integration of multiple lines of genetic evidence support the functional relevance of the identified POAG risk loci and highlight potential …
Mendelian Randomization Reveals Causalities Between DNA Methylation and Schizophrenia.
Wang D, Li D, Dang X, Mu C, Liu C, Zeng Y, Yuan Y, Teng Z, Li Y, Luo XJ. Wang D, et al. Biol Psychiatry. 2025 Nov 1;98(9):712-723. doi: 10.1016/j.biopsych.2025.03.012. Epub 2025 Mar 27. Biol Psychiatry. 2025. PMID: 40157589
Interestingly, 3 methylation sites (near BRD2, CNNM2, and RERE) showed significant associations in both brain and blood, with the same direction of effect. ...
Interestingly, 3 methylation sites (near BRD2, CNNM2, and RERE) showed significant associations in both brain and blood, with the sam …
FAT1 as a tumor mutation burden specific gene affects the immunotherapy effect in head and neck squamous cell cancer.
Cao H, Lan T, Kuang S, Wang L, Li J, Li Q, Li Y, Xu Q, Chen Q, Ren S, Lan C, Ouyang N, Liao J, Huang Y, Li J. Cao H, et al. Drug Resist Updat. 2024 Sep;76:101095. doi: 10.1016/j.drup.2024.101095. Epub 2024 May 27. Drug Resist Updat. 2024. PMID: 38986165
This involves many metabolism-related pathways like RERE, AIRE, HOMER1, etc. In the scRNA-seq data, regulatory T cells (Tregs), monocytes, and DCs were found mainly enriched in TMB-high samples. ...
This involves many metabolism-related pathways like RERE, AIRE, HOMER1, etc. In the scRNA-seq data, regulatory T cells (Tregs), monoc …
Phenotypic variability in RERE-related disorders and the first report of an inherited variant.
Niehaus AD, Kim J, Manning MA. Niehaus AD, et al. Am J Med Genet A. 2022 Nov;188(11):3358-3363. doi: 10.1002/ajmg.a.62952. Epub 2022 Sep 2. Am J Med Genet A. 2022. PMID: 36053530 Review.
RERE-related disorders, also known as Neurodevelopmental Disorders with or without Anomalies of the Brain, Eye, or Heart (NEDBEH), are caused by heterozygous pathogenic variants in the arginine-glutamic acid dipeptide repeats gene (RERE). ...We also describe the fir …
RERE-related disorders, also known as Neurodevelopmental Disorders with or without Anomalies of the Brain, Eye, or Heart (NEDBEH), ar …
RERE deficiency contributes to the development of orofacial clefts in humans and mice.
Kim BJ, Zaveri HP, Kundert PN, Jordan VK, Scott TM, Carmichael J, Scott DA. Kim BJ, et al. Hum Mol Genet. 2021 May 12;30(7):595-602. doi: 10.1093/hmg/ddab084. Hum Mol Genet. 2021. PMID: 33772547
Here we report the first individual with NEDBEH to have a cleft palate. We confirm that RERE is broadly expressed in the palate during mouse embryonic development, and we demonstrate that the majority of RERE-deficient mouse embryos on C57BL/6 background have cleft …
Here we report the first individual with NEDBEH to have a cleft palate. We confirm that RERE is broadly expressed in the palate durin …
RERE-AS1 enhances the effect of CDK4/6 inhibitor Ribociclib and suppresses malignant phenotype in breast cancer via MEK/ERK pathway.
Huang Z, Lou K, Qi M, Wang J, Li L, Sun B, Wang C, Zhou X, Chen D, Liu H. Huang Z, et al. J Transl Med. 2024 Nov 22;22(1):1052. doi: 10.1186/s12967-024-05828-x. J Transl Med. 2024. PMID: 39574120 Free PMC article.
Cellular experiments demonstrated that overexpression of RERE-AS1 promoted the anti-tumor activity of ribociclib in BC cells. Furthermore, RERE-AS1 is crucial in suppressing the malignant traits of BC cells through the reduction of MEK and ERK phosphorylation levels …
Cellular experiments demonstrated that overexpression of RERE-AS1 promoted the anti-tumor activity of ribociclib in BC cells. Further …
Human RERE is localized to nuclear promyelocytic leukemia oncogenic domains and enhances apoptosis.
Waerner T, Gardellin P, Pfizenmaier K, Weith A, Kraut N. Waerner T, et al. Cell Growth Differ. 2001 Apr;12(4):201-10. Cell Growth Differ. 2001. PMID: 11331249
Overexpression of RERE recruits a fraction of the proapoptotic protein BAX to PODS: This observation correlates with RERE-induced apoptosis, which occurs in a caspase-dependent manner. These results identify RERE as a novel component of PODs and suggest an im …
Overexpression of RERE recruits a fraction of the proapoptotic protein BAX to PODS: This observation correlates with RERE-indu …
Plasma and urinary metabolomic signatures differentiate genetic and idiopathic Parkinson's disease.
Cotrin JC, Dos Santos Junior GC, Cadaxo AS, Pereira JS, Spitz M, de Rosso ALZ, Veras RP, Valente AP, Pimentel MMG, Santos-Rebouças CB. Cotrin JC, et al. Brain Res. 2025 Jul 1;1858:149625. doi: 10.1016/j.brainres.2025.149625. Epub 2025 Apr 17. Brain Res. 2025. PMID: 40204143
Additionally, a metabolite-gene-disease interaction network identified 15 genes associated with PD that interact with key metabolites, highlighting MAPT, SNCA, RERE, and KCNN3 as key players in both plasmaandurine. NMR in saliva samples did not show significant differences …
Additionally, a metabolite-gene-disease interaction network identified 15 genes associated with PD that interact with key metabolites, highl …
Shared Genetic Architecture Between Atopic Dermatitis and Autoimmune Diseases.
Lazanas P, Antonatos C, Tsoumani KT, Sgourou A, Vasilopoulos Y. Lazanas P, et al. Int J Mol Sci. 2025 Sep 18;26(18):9124. doi: 10.3390/ijms26189124. Int J Mol Sci. 2025. PMID: 41009683 Free PMC article.
Multi-trait colocalization analysis prioritized 22 loci, linking the tissue-specific expression of DOK2, GPR132, RERE, RERE-AS1, SUOX, TNFRSF11A, and TRAF1 pleiotropic genes with AD risk. Mendelian randomization revealed no causal effect of genetic liability to AD o …
Multi-trait colocalization analysis prioritized 22 loci, linking the tissue-specific expression of DOK2, GPR132, RERE, RERE-AS …
84 results