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Page 1
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, Boddaert N, Cantagrel V, Lewis AM, Scaglia F; Undiagnosed Diseases Network; Kohler JN, Bernstein JA, Dries AM, Rosenfeld JA, DeFilippo C, Thorson W, Yang Y, Sherr EH, Bi W, Scott DA. Jordan VK, et al. Hum Mutat. 2018 May;39(5):666-675. doi: 10.1002/humu.23400. Epub 2018 Jan 25. Hum Mutat. 2018. PMID: 29330883 Free PMC article.
Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). ...We conclude that mutations affecting RERE result in a spectrum o …
Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorde …
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 …
Alcohol drinking, DNA methylation and psychiatric disorders: A multi-omics Mendelian randomization study to investigate causal pathways.
Shi X, Li M, Yao J, Li MD, Yang Z. Shi X, et al. Addiction. 2024 Jul;119(7):1226-1237. doi: 10.1111/add.16465. Epub 2024 Mar 25. Addiction. 2024. PMID: 38523595
MR analysis identified 10 alcohol-related CpG sites with colocalization evidence that were causally associated with psychiatric disorders (P = 1.65 10(-4)-7.52 10(-22)). Furthermore, the expression of genes (RERE, PTK6, GATAD2B, COG8, PDF and GAS5) mapped to these CpG site …
MR analysis identified 10 alcohol-related CpG sites with colocalization evidence that were causally associated with psychiatric disorders (P …
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, …
Functional implications of paralog genes in polyglutamine spinocerebellar ataxias.
Felício D, du Mérac TR, Amorim A, Martins S. Felício D, et al. Hum Genet. 2023 Dec;142(12):1651-1676. doi: 10.1007/s00439-023-02607-4. Epub 2023 Oct 16. Hum Genet. 2023. PMID: 37845370 Free PMC article. Review.
Besides ATXN1L, we highlight ATXN2L, ATXN3L, CACNA1B, ATXN7L1, ATXN7L2, TBPL2, and RERE as promising functional candidates to play a role in the neuropathology of the respective SCA, along with the parental gene. ...
Besides ATXN1L, we highlight ATXN2L, ATXN3L, CACNA1B, ATXN7L1, ATXN7L2, TBPL2, and RERE as promising functional candidates to play a …
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 …
Causal influences of neuroticism on mental health and cardiovascular disease.
Zhang F, Baranova A, Zhou C, Cao H, Chen J, Zhang X, Xu M. Zhang F, et al. Hum Genet. 2021 Sep;140(9):1267-1281. doi: 10.1007/s00439-021-02288-x. Epub 2021 May 11. Hum Genet. 2021. PMID: 33973063
We highlighted key genes contributing to the causal associations between neuroticism and MDD, including RBFOX1, RERE, SOX5, and TCF4, and those contributing to the causal associations between neuroticism and cardiovascular diseases, including MAD1L1, ARNTL, RERE, an …
We highlighted key genes contributing to the causal associations between neuroticism and MDD, including RBFOX1, RERE, SOX5, and TCF4, …
79 results