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Genotype/Phenotype Issues of CARS2 Variants.
Finsterer J. Finsterer J. Pediatr Neurol. 2019 Feb;91:73. doi: 10.1016/j.pediatrneurol.2018.09.011. Epub 2018 Oct 5. Pediatr Neurol. 2019. PMID: 30389111 No abstract available.
Reply to Cerebral Infarction in CARS2 Mutation.
Samanta D. Samanta D. Pediatr Neurol. 2019 Apr;93:66. doi: 10.1016/j.pediatrneurol.2018.12.005. Epub 2018 Dec 24. Pediatr Neurol. 2019. PMID: 30686629 No abstract available.
A novel anti-inflammatory role links the CARS2 locus to protection from coronary artery disease.
Dang AT, Turner AW, Lau P, Mohottalage D, Stephanie Fong YK, Eriksson P, Folkersen L, Matic L, Hedin U, Soubeyrand S, McPherson R. Dang AT, et al. Atherosclerosis. 2022 May;348:8-15. doi: 10.1016/j.atherosclerosis.2022.03.024. Epub 2022 Mar 28. Atherosclerosis. 2022. PMID: 35381443
This variant lies in an intergenic region, proximal to ING1, CARKD and CARS2 but its causal relationship to CAD is unknown. METHODS AND RESULTS: We first demonstrated that rs61969072 and tightly linked single nucleotide polymorphisms (SNPs) associate with CARS2 but …
This variant lies in an intergenic region, proximal to ING1, CARKD and CARS2 but its causal relationship to CAD is unknown. METHODS A …
Sex/Gender Differences in CARS2 and GARS-3 Item Scores: Evidence of Phenotypic Differences Between Males and Females with ASD.
Tsirgiotis JM, Young RL, Weber N. Tsirgiotis JM, et al. J Autism Dev Disord. 2022 Sep;52(9):3958-3976. doi: 10.1007/s10803-021-05286-0. Epub 2021 Sep 17. J Autism Dev Disord. 2022. PMID: 34533659
To investigate specific behaviours in which differences lie, we analysed profiles of 777 children using the Childhood Autism Rating Scale (Scholper in JAMA 29:489-493, 2010) or Gilliam Autism Rating Scale (Gilliam, 2014). Males demonstrated greater difficulty in six CARS2- …
To investigate specific behaviours in which differences lie, we analysed profiles of 777 children using the Childhood Autism Rating Scale (S …
Clinicopathologic Findings of CARS2 Mutation.
Samanta D, Gokden M, Willis E. Samanta D, et al. Pediatr Neurol. 2018 Oct;87:65-69. doi: 10.1016/j.pediatrneurol.2018.06.009. Epub 2018 Jul 4. Pediatr Neurol. 2018. PMID: 30139652
Microscopic examination of the brain showed cortical abnormalities that largely consisted of infarct-like pathology in a laminar manner, abnormalities of neuronal distribution, and white matter changes. Compound heterozygous mutations of the CARS2 gene were identified by w …
Microscopic examination of the brain showed cortical abnormalities that largely consisted of infarct-like pathology in a laminar manner, abn …
Comparing the Indian Autism Screening Questionnaire (IASQ) and the Indian Scale for Assessment of Autism (ISAA) with the Childhood Autism Rating Scale-Second Edition (CARS2) in Indian settings.
Chakraborty S, Bhatia T, Antony N, Roy A, Shriharsh V, Sahay A, Brar JS, Iyengar S, Singh R, Nimgaonkar VL, Deshpande SN. Chakraborty S, et al. PLoS One. 2022 Sep 19;17(9):e0273780. doi: 10.1371/journal.pone.0273780. eCollection 2022. PLoS One. 2022. PMID: 36121860 Free PMC article.
It was followed by ISAA and the CARS-2 (in alternating order, by different evaluators blind to each other) (CARS2 SV (Standard Version) and CARS2 HF (High Functioning) as applicable). Sensitivity, specificity and area under the Receiver Operator Characteristics (ROC …
It was followed by ISAA and the CARS-2 (in alternating order, by different evaluators blind to each other) (CARS2 SV (Standard Versio …
Generation of an iPSC line from a patient with early-onset epileptic encephalopathy carrying CARS2 (p.G476R) mutation.
Xu M, Duan X, Ren X, Liu Z, Chen S, Fang F. Xu M, et al. Stem Cell Res. 2022 Mar;59:102633. doi: 10.1016/j.scr.2021.102633. Epub 2021 Dec 20. Stem Cell Res. 2022. PMID: 34953328 Free article.
Mutations in CARS2 gene, encoding for the mitochondrial cysteinyl-tRNA synthetase, has been reported to be associated with early-onset epileptic encephalopathy (EOEE). Here, we generated an induced pluripotent stem cell (iPSC) line from the human dermal fibroblasts (HDFs) …
Mutations in CARS2 gene, encoding for the mitochondrial cysteinyl-tRNA synthetase, has been reported to be associated with early-onse …
Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.
Jauss RT, Schließke S, Abou Jamra R. Jauss RT, et al. Genes (Basel). 2022 Dec 7;13(12):2305. doi: 10.3390/genes13122305. Genes (Basel). 2022. PMID: 36553572 Free PMC article.
For 21 genes, we present case reports that confirm the lack or provisionality of OMIM associations (ATP6V0A1, CNTN2, GABRD, NCKAP1, RHEB, TCF7L2), broaden the phenotypic spectrum (CC2D1A, KCTD17, YAP1) or substantially strengthen the confirmation of genes with limited evidence in …
For 21 genes, we present case reports that confirm the lack or provisionality of OMIM associations (ATP6V0A1, CNTN2, GABRD, NCKAP1, RHEB, TC …
Supersulphides provide airway protection in viral and chronic lung diseases.
Matsunaga T, Sano H, Takita K, Morita M, Yamanaka S, Ichikawa T, Numakura T, Ida T, Jung M, Ogata S, Yoon S, Fujino N, Kyogoku Y, Sasaki Y, Koarai A, Tamada T, Toyama A, Nakabayashi T, Kageyama L, Kyuwa S, Inaba K, Watanabe S, Nagy P, Sawa T, Oshiumi H, Ichinose M, Yamada M, Sugiura H, Wei FY, Motohashi H, Akaike T. Matsunaga T, et al. Nat Commun. 2023 Jul 25;14(1):4476. doi: 10.1038/s41467-023-40182-4. Nat Commun. 2023. PMID: 37491435 Free PMC article.
Their synthesis is mainly mediated by mitochondrial cysteinyl-tRNA synthetase (CARS2) that functions as a principal cysteine persulphide synthase (CPERS). ...Lung damage and subsequent lethality that result from oxidative stress and inflammation in mouse models of COPD, IP …
Their synthesis is mainly mediated by mitochondrial cysteinyl-tRNA synthetase (CARS2) that functions as a principal cysteine persulph …
71 results