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RERE-Related Disorders.
Scott DA, Sherr EH. Scott DA, et al. 2019 Mar 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2019 Mar 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 30896913 Free Books & Documents. Review.
Sensorineural hearing loss can be unilateral or bilateral. DIAGNOSIS/TESTING: The diagnosis of RERE-related disorders is established in a proband by identification of a heterozygous pathogenic variant in RERE by molecular genetic testing. ...Once the RERE pat …
Sensorineural hearing loss can be unilateral or bilateral. DIAGNOSIS/TESTING: The diagnosis of RERE-related disorders is established …
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 …
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 causes retinal and optic nerve atrophy through degeneration of retinal cells.
Kim BJ, Scott DA. Kim BJ, et al. Dev Dyn. 2021 Oct;250(10):1398-1409. doi: 10.1002/dvdy.330. Epub 2021 Mar 29. Dev Dyn. 2021. PMID: 33742727 Free article.
RERE-deficient mice have retinal and optic nerve atrophy. We show that RERE deficiency causes progressive loss of retinal cells and apoptosis of retinal cells in the ganglion cell layer as early as E17.5. The number of RGCs is also reduced in RERE-deficient e …
RERE-deficient mice have retinal and optic nerve atrophy. We show that RERE deficiency causes progressive loss of retinal cell …
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 …
1p36 deletion syndrome: an update.
Jordan VK, Zaveri HP, Scott DA. Jordan VK, et al. Appl Clin Genet. 2015 Aug 27;8:189-200. doi: 10.2147/TACG.S65698. eCollection 2015. Appl Clin Genet. 2015. PMID: 26345236 Free PMC article. Review.
In particular, we highlight evidence implicating MMP23B, GABRD, SKI, PRDM16, KCNAB2, RERE, UBE4B, CASZ1, PDPN, SPEN, ECE1, HSPG2, and LUZP1 in various 1p36 deletion phenotypes....
In particular, we highlight evidence implicating MMP23B, GABRD, SKI, PRDM16, KCNAB2, RERE, UBE4B, CASZ1, PDPN, SPEN, ECE1, HSPG2, and …
RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects.
Kim BJ, Zaveri HP, Jordan VK, Hernandez-Garcia A, Jacob DJ, Zamora DL, Yu W, Schwartz RJ, Scott DA. Kim BJ, et al. Dis Model Mech. 2018 Aug 28;11(9):dmm031534. doi: 10.1242/dmm.031534. Dis Model Mech. 2018. PMID: 30061196 Free PMC article.
Mutations affecting RERE cause atrial and ventricular septal defects (VSDs) in humans, and RERE-deficient mice also develop VSDs. ...Using a combination of in vivo and in vitro studies, we show that Rere and Gata4 interact genetically in the development of CH …
Mutations affecting RERE cause atrial and ventricular septal defects (VSDs) in humans, and RERE-deficient mice also develop VS …
Rere controls retinoic acid signalling and somite bilateral symmetry.
Vilhais-Neto GC, Maruhashi M, Smith KT, Vasseur-Cognet M, Peterson AS, Workman JL, Pourquié O. Vilhais-Neto GC, et al. Nature. 2010 Feb 18;463(7283):953-7. doi: 10.1038/nature08763. Nature. 2010. PMID: 20164929
Furthermore, we also demonstrate that Rere controls retinoic acid signalling, which is required to maintain somite symmetry by interacting with Fgf8 in the left-right signalling pathway. ...Furthermore, the knockdown of Nr2f2 and/or Rere decreases retinoic acid sign …
Furthermore, we also demonstrate that Rere controls retinoic acid signalling, which is required to maintain somite symmetry by intera …
261 results