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1963 8
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1,757 results

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Page 1
Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
Di Donato N, Guerrini R, Billington CJ, Barkovich AJ, Dinkel P, Freri E, Heide M, Gershon ES, Gertler TS, Hopkin RJ, Jacob S, Keedy SK, Kooshavar D, Lockhart PJ, Lohmann DR, Mahmoud IG, Parrini E, Schrock E, Severi G, Timms AE, Webster RI, Willis MJH, Zaki MS, Gleeson JG, Leventer RJ, Dobyns WB. Di Donato N, et al. Brain. 2022 Sep 14;145(9):3274-3287. doi: 10.1093/brain/awac164. Brain. 2022. PMID: 35769015 Free PMC article.
Despite the large size of the gene, only 11 individuals with RELN-related lissencephaly with cerebellar hypoplasia from six families have previously been reported. ...Reduced RELN secretion in heterozygous individuals affects only cortical structure whereas the cere …
Despite the large size of the gene, only 11 individuals with RELN-related lissencephaly with cerebellar hypoplasia from six families …
RELN Mutations in Autism Spectrum Disorder.
Lammert DB, Howell BW. Lammert DB, et al. Front Cell Neurosci. 2016 Mar 31;10:84. doi: 10.3389/fncel.2016.00084. eCollection 2016. Front Cell Neurosci. 2016. PMID: 27064498 Free PMC article. Review.
RELN encodes a large, secreted glycoprotein integral to proper neuronal positioning during development and regulation of synaptic function postnatally. ...Several lines of evidence from multiple studies now implicate heterozygous mutations in RELN in autism spectrum …
RELN encodes a large, secreted glycoprotein integral to proper neuronal positioning during development and regulation of synaptic fun …
Epigenetic RELN Dysfunction in Schizophrenia and Related Neuropsychiatric Disorders.
Guidotti A, Grayson DR, Caruncho HJ. Guidotti A, et al. Front Cell Neurosci. 2016 Apr 5;10:89. doi: 10.3389/fncel.2016.00089. eCollection 2016. Front Cell Neurosci. 2016. PMID: 27092053 Free PMC article. Review.
RELN supplementation recovers these deficits suggesting a trophic action for RELN in synaptic plasticity. ...It is hypothesized that these conditions lead to RELN promoter hypermethylation and a reduction in RELN protein amounts in psychotic patients. …
RELN supplementation recovers these deficits suggesting a trophic action for RELN in synaptic plasticity. ...It is hypothesize …
Heterozygous RELN missense variants associated with genetic generalized epilepsy.
Wu X, Zhong S, Cai Y, Yang Y, Lian Y, Ding J, Wang X. Wu X, et al. Seizure. 2023 Oct;111:122-129. doi: 10.1016/j.seizure.2023.08.006. Epub 2023 Aug 12. Seizure. 2023. PMID: 37625192
PURPOSE: The RELN gene encodes the secreted glycoprotein Reelin and has important functions in both developing and adult brains. In this study, we aimed to explore the association between the RELN and genetic generalized epilepsy (GGE). METHODS: We performed whole-e …
PURPOSE: The RELN gene encodes the secreted glycoprotein Reelin and has important functions in both developing and adult brains. In t …
Meta-analyses of RELN variants in neuropsychiatric disorders.
Chen N, Bao Y, Xue Y, Sun Y, Hu D, Meng S, Lu L, Shi J. Chen N, et al. Behav Brain Res. 2017 Aug 14;332:110-119. doi: 10.1016/j.bbr.2017.05.028. Epub 2017 May 12. Behav Brain Res. 2017. PMID: 28506622 Review.
Here, we conducted meta-analyses of RELN gene SNPs and related neuropsychiatric disorders (schizophrenia, autistic spectrum disorders, attention-deficit hyperactivity disorder, Alzheimer's disease and bipolar disorders). A total of 12 SNPs (rs736707, rs362691, rs607755, rs …
Here, we conducted meta-analyses of RELN gene SNPs and related neuropsychiatric disorders (schizophrenia, autistic spectrum disorders …
RELN rs7341475 Associates with Brain Structure in Japanese Healthy Females.
Yamaguchi R, Matsudaira I, Takeuchi H, Imanishi T, Kimura R, Tomita H, Kawashima R, Taki Y. Yamaguchi R, et al. Neuroscience. 2022 Jul 1;494:38-50. doi: 10.1016/j.neuroscience.2022.05.007. Epub 2022 May 13. Neuroscience. 2022. PMID: 35569645
Although temperament has been regarded as an innate aspect of human personality, its association with proteins involved in embryonic development is unclear. Reelin, encoded by RELN, plays an important role in brain development. Herein, we investigated the association betwe …
Although temperament has been regarded as an innate aspect of human personality, its association with proteins involved in embryonic develop …
The risks of RELN polymorphisms and its expression in the development of otosclerosis.
Priyadarshi S, Hansdah K, Singh N, Bouzid A, Ray CS, Panda KC, Biswal NC, Desai A, Choudhury JC, Tekari A, Masmoudi S, Ramchander PV. Priyadarshi S, et al. PLoS One. 2022 Jun 3;17(6):e0269558. doi: 10.1371/journal.pone.0269558. eCollection 2022. PLoS One. 2022. PMID: 35658052 Free PMC article.
To understand the role of RELN and its receptors in the development of OTSC, we went further to perform a functional analysis of RELN/reelin. Here we detected a reduced RELN (p = 0.0068) and VLDLR (p = 0.0348) mRNA levels in the otosclerotic stapes tissues. . …
To understand the role of RELN and its receptors in the development of OTSC, we went further to perform a functional analysis of R …
RELN signaling modulates glioblastoma growth and substrate-dependent migration.
Schulze M, Violonchi C, Swoboda S, Welz T, Kerkhoff E, Hoja S, Brüggemann S, Simbürger J, Reinders J, Riemenschneider MJ. Schulze M, et al. Brain Pathol. 2018 Sep;28(5):695-709. doi: 10.1111/bpa.12584. Epub 2018 Jan 10. Brain Pathol. 2018. PMID: 29222813 Free PMC article.
RELN silencing occurs via promoter hypermethylation as shown by both database mining and bisulfite sequencing of the RELN promoter. ...Moreover, stimulation of RELN signaling strongly reduced proliferation in glioblastoma cells. This phenotype depends on DAB1 …
RELN silencing occurs via promoter hypermethylation as shown by both database mining and bisulfite sequencing of the RELN prom …
Lymphoangiocrine signals promote cardiac growth and repair.
Liu X, De la Cruz E, Gu X, Balint L, Oxendine-Burns M, Terrones T, Ma W, Kuo HH, Lantz C, Bansal T, Thorp E, Burridge P, Jakus Z, Herz J, Cleaver O, Torres M, Oliver G. Liu X, et al. Nature. 2020 Dec;588(7839):705-711. doi: 10.1038/s41586-020-2998-x. Epub 2020 Dec 9. Nature. 2020. PMID: 33299187 Free PMC article.
Characterization of the LEC secretome identified the extracellular protein reelin (RELN) as a key component of this process. Moreover, we report that LEC-specific Reln-null mouse embryos develop smaller hearts, that RELN is required for efficient heart repair …
Characterization of the LEC secretome identified the extracellular protein reelin (RELN) as a key component of this process. Moreover …
RELN rare variants in myoclonus-dystonia.
Groen JL, Ritz K, Jalalzadeh H, van der Salm SM, Jongejan A, Mook OR, Haagmans MA, Zwinderman AH, Motazacker MM, Hennekam RC, Baas F, Tijssen MA. Groen JL, et al. Mov Disord. 2015 Mar;30(3):415-9. doi: 10.1002/mds.26070. Epub 2015 Feb 4. Mov Disord. 2015. PMID: 25648840
RESULTS: We found co-segregation of the rare missense variant Thr1904Met in the RELN gene. By additional screening of an M-D cohort, we identified co-segregation of RELN variants in two families (Thr1904Met, Ile1217Met) and identified two sporadic RELN mutati …
RESULTS: We found co-segregation of the rare missense variant Thr1904Met in the RELN gene. By additional screening of an M-D cohort, …
1,757 results