SARAH ELSEA to Animals
This is a "connection" page, showing publications SARAH ELSEA has written about Animals.
Connection Strength
0.366
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NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction. Mol Genet Metab. 2022 06; 136(2):101-110.
Score: 0.042
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ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat. 2020 09; 41(9):1469-1487.
Score: 0.037
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Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1. PLoS One. 2014; 9(8):e105077.
Score: 0.025
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Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity. Am J Hum Genet. 2012 Jun 08; 90(6):941-9.
Score: 0.021
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Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome. Hum Mol Genet. 2010 Oct 15; 19(20):4026-42.
Score: 0.019
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Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice. Mamm Genome. 2009 Apr; 20(4):247-55.
Score: 0.017
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Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice. Eur J Med Genet. 2009 Jul-Aug; 52(4):224-8.
Score: 0.017
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Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response. Mamm Genome. 2008 Apr; 19(4):246-62.
Score: 0.016
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How much is too much? Phenotypic consequences of Rai1 overexpression in mice. Eur J Hum Genet. 2008 Aug; 16(8):941-54.
Score: 0.016
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RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. J Med Genet. 2005 Nov; 42(11):820-8.
Score: 0.013
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Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet. 2003 Apr; 33(4):466-8.
Score: 0.011
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Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders. Hum Mol Genet. 2023 01 13; 32(3):386-401.
Score: 0.011
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The mousetrap: what we can learn when the mouse model does not mimic the human disease. ILAR J. 2002; 43(2):66-79.
Score: 0.010
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An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder. Int J Mol Sci. 2020 Nov 27; 21(23).
Score: 0.010
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Management of Sleep Disturbances Associated with Smith-Magenis Syndrome. CNS Drugs. 2020 07; 34(7):723-730.
Score: 0.009
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Differential expression of MAGEA6 toggles autophagy to promote pancreatic cancer progression. Elife. 2020 04 09; 9.
Score: 0.009
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Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome. Am J Med Genet. 1999 Dec 03; 87(4):342-8.
Score: 0.009
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Assignment of beta-centractin (CTRN2) to human chromosome 2 bands q11.1-->q11.2 with somatic cell hybrids and in situ hybridization. Cytogenet Cell Genet. 1999; 84(1-2):48-9.
Score: 0.008
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Rapid Disruption of Genes Specifically in Livers of Mice Using Multiplex CRISPR/Cas9 Editing. Gastroenterology. 2018 12; 155(6):1967-1970.e6.
Score: 0.008
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Quinolones share a common interaction domain on topoisomerase II with other DNA cleavage-enhancing antineoplastic drugs. Biochemistry. 1997 Mar 11; 36(10):2919-24.
Score: 0.007
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Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia. Nat Commun. 2016 08 30; 7:12642.
Score: 0.007
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Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency. Hum Mol Genet. 2015 Nov 15; 24(22):6417-27.
Score: 0.007
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A yeast type II topoisomerase selected for resistance to quinolones. Mutation of histidine 1012 to tyrosine confers resistance to nonintercalative drugs but hypersensitivity to ellipticine. J Biol Chem. 1995 Jan 27; 270(4):1913-20.
Score: 0.006
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Retinoic acid induced-1 (Rai1) regulates craniofacial and brain development in Xenopus. Mech Dev. 2014 Aug; 133:91-104.
Score: 0.006
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Drug features that contribute to the activity of quinolones against mammalian topoisomerase II and cultured cells: correlation between enhancement of enzyme-mediated DNA cleavage in vitro and cytotoxic potential. Antimicrob Agents Chemother. 1993 Oct; 37(10):2179-86.
Score: 0.006
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Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet. 2012 Jul 13; 91(1):56-72.
Score: 0.005
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A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. PLoS Genet. 2012; 8(5):e1002713.
Score: 0.005
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Human 12(R)-lipoxygenase and the mouse ortholog. Molecular cloning, expression, and gene chromosomal assignment. J Biol Chem. 1998 Dec 11; 273(50):33540-7.
Score: 0.002
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Increased drug affinity as the mechanistic basis for drug hypersensitivity of a mutant type II topoisomerase. J Biol Chem. 1995 Nov 24; 270(47):28018-21.
Score: 0.002
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Analysis of neurogenic contractions induced by ML-1035 and other benzamides in the guinea-pig non-stimulated isolated ileum. J Pharm Pharmacol. 1994 Jun; 46(6):491-6.
Score: 0.002
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Defining functional drug-interaction domains on topoisomerase II by exploiting mechanistic differences between drug classes. Cancer Chemother Pharmacol. 1994; 34 Suppl:S19-25.
Score: 0.001
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Pharmacokinetic evaluation of two human epidermal growth factors (hEGF51 and hEGF53) in rats. Drug Metab Dispos. 1992 Jan-Feb; 20(1):23-30.
Score: 0.001