HUDA ZOGHBI to Rett Syndrome
This is a "connection" page, showing publications HUDA ZOGHBI has written about Rett Syndrome.
Connection Strength
17.439
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A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels. Genes Dev. 2023 10 01; 37(19-20):883-900.
Score: 0.700
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MeCP2 regulates Gdf11, a dosage-sensitive gene critical for neurological function. Elife. 2023 02 27; 12.
Score: 0.672
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A weakened recurrent circuit in the hippocampus of Rett syndrome mice disrupts long-term memory representations. Neuron. 2022 05 18; 110(10):1689-1699.e6.
Score: 0.629
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Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome. Nature. 2021 04; 592(7855):596-600.
Score: 0.588
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Identification and characterization of conserved noncoding cis-regulatory elements that impact Mecp2 expression and neurological functions. Genes Dev. 2021 04 01; 35(7-8):489-494.
Score: 0.587
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Deleting Mecp2 from the cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice. Elife. 2021 01 26; 10.
Score: 0.581
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Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies. Lancet Neurol. 2020 08; 19(8):689-698.
Score: 0.562
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Intellectual and Developmental Disabilities Research Centers: A Multidisciplinary Approach to Understand the Pathogenesis of Methyl-CpG Binding Protein 2-related Disorders. Neuroscience. 2020 10 01; 445:190-206.
Score: 0.552
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Losing Dnmt3a dependent methylation in inhibitory neurons impairs neural function by a mechanism impacting Rett syndrome. Elife. 2020 03 11; 9.
Score: 0.547
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The distinct methylation landscape of maturing neurons and its role in Rett syndrome pathogenesis. Curr Opin Neurobiol. 2019 12; 59:180-188.
Score: 0.529
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Rett Syndrome and the Ongoing Legacy of Close Clinical Observation. Cell. 2016 Oct 06; 167(2):293-297.
Score: 0.431
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Loss and Gain of MeCP2 Cause Similar Hippocampal Circuit Dysfunction that Is Rescued by Deep Brain Stimulation in a Rett Syndrome Mouse Model. Neuron. 2016 Aug 17; 91(4):739-747.
Score: 0.426
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Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome. Elife. 2016 06 21; 5.
Score: 0.423
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Loss of MeCP2 in Parvalbumin-and Somatostatin-Expressing Neurons in Mice Leads to Distinct Rett Syndrome-like Phenotypes. Neuron. 2015 Nov 18; 88(4):651-8.
Score: 0.406
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Karyopherin a 3 and karyopherin a 4 proteins mediate the nuclear import of methyl-CpG binding protein 2. J Biol Chem. 2015 Sep 11; 290(37):22485-93.
Score: 0.398
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MECP2 disorders: from the clinic to mice and back. J Clin Invest. 2015 Aug 03; 125(8):2914-23.
Score: 0.398
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Rett syndrome: disruption of epigenetic control of postnatal neurological functions. Hum Mol Genet. 2015 Oct 15; 24(R1):R10-6.
Score: 0.393
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MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome. Proc Natl Acad Sci U S A. 2015 Apr 28; 112(17):5509-14.
Score: 0.389
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Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice. Elife. 2014 Jun 26; 3.
Score: 0.368
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An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders. Cell. 2013 Feb 28; 152(5):984-96.
Score: 0.336
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Adult neural function requires MeCP2. Science. 2011 Jul 08; 333(6039):186.
Score: 0.298
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Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature. 2010 Nov 11; 468(7321):263-9.
Score: 0.286
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Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Hum Mol Genet. 2009 Jul 01; 18(13):2431-42.
Score: 0.257
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Rett syndrome: what do we know for sure? Nat Neurosci. 2009 Mar; 12(3):239-40.
Score: 0.255
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The story of Rett syndrome: from clinic to neurobiology. Neuron. 2007 Nov 08; 56(3):422-37.
Score: 0.233
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Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A. 2006 Nov 28; 103(48):18267-72.
Score: 0.217
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MeCP2 dysfunction in Rett syndrome and related disorders. Curr Opin Genet Dev. 2006 Jun; 16(3):276-81.
Score: 0.209
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Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. J Neurosci. 2006 Jan 04; 26(1):319-27.
Score: 0.205
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MeCP2 dysfunction in humans and mice. J Child Neurol. 2005 Sep; 20(9):736-40.
Score: 0.200
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Comprehensive assessment reveals numerous clinical and neurophysiological differences between MECP2-allelic disorders. Ann Clin Transl Neurol. 2025 Feb; 12(2):433-447.
Score: 0.192
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Acute MeCP2 loss in adult mice reveals transcriptional and chromatin changes that precede neurological dysfunction and inform pathogenesis. Neuron. 2025 Feb 05; 113(3):380-395.e8.
Score: 0.190
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Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. Hum Mol Genet. 2005 Jan 15; 14(2):205-20.
Score: 0.189
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Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels. Hum Mol Genet. 2024 11 08; 33(22):1986-2001.
Score: 0.189
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Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet. 2004 Nov 01; 13(21):2679-89.
Score: 0.187
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Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist. 2004 Apr; 10(2):118-28.
Score: 0.181
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X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome. Am J Hum Genet. 2004 Mar; 74(3):511-20.
Score: 0.180
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Postnatal neurodevelopmental disorders: meeting at the synapse? Science. 2003 Oct 31; 302(5646):826-30.
Score: 0.176
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Rett syndrome and MeCP2: linking epigenetics and neuronal function. Am J Hum Genet. 2002 Dec; 71(6):1259-72.
Score: 0.165
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Balanced X chromosome inactivation patterns in the Rett syndrome brain. Am J Med Genet. 2002 Aug 01; 111(2):164-8.
Score: 0.161
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Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron. 2002 Jul 18; 35(2):243-54.
Score: 0.161
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Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum Mol Genet. 2002 Jan 15; 11(2):115-24.
Score: 0.155
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Introduction: Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002; 8(2):59-60.
Score: 0.155
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Genetic basis of Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002; 8(2):82-6.
Score: 0.155
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Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome. Brain Dev. 2001 Dec; 23 Suppl 1:S147-51.
Score: 0.154
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Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations. Curr Opin Neurol. 2001 Apr; 14(2):171-6.
Score: 0.147
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Methyl-CpG-binding protein 2 mutations in Rett syndrome. Curr Opin Genet Dev. 2000 Jun; 10(3):275-9.
Score: 0.139
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Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol. 2000 May; 47(5):670-9.
Score: 0.138
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Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq. Am J Med Genet. 2000 Jan 03; 90(1):69-71.
Score: 0.135
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Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations. Am J Med Genet. 2000; 97(2):147-52.
Score: 0.135
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999 Oct; 23(2):185-8.
Score: 0.133
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Impaired spatial memory codes in a mouse model of Rett syndrome. Elife. 2018 07 20; 7.
Score: 0.122
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Mutation analysis of the M6b gene in patients with Rett syndrome. Am J Med Genet. 1998 Jun 30; 78(2):165-8.
Score: 0.122
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Analysis of the genomic structure of the human glycine receptor alpha2 subunit gene and exclusion of this gene as a candidate for Rett syndrome. Am J Med Genet. 1998 Jun 30; 78(2):176-8.
Score: 0.122
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Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome. Am J Med Genet. 1998 Jun 30; 78(2):179-81.
Score: 0.122
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Forniceal deep brain stimulation induces gene expression and splicing changes that promote neurogenesis and plasticity. Elife. 2018 03 23; 7.
Score: 0.119
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Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice. Nature. 2015 Oct 15; 526(7573):430-4.
Score: 0.101
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Brief report: MECP2 mutations in people without Rett syndrome. J Autism Dev Disord. 2014 Mar; 44(3):703-11.
Score: 0.090
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Isolation of a yeast artificial chromosome contig spanning the X chromosomal translocation breakpoint in a patient with Rett syndrome. Am J Med Genet. 1993 Nov 15; 47(7):1124-34.
Score: 0.088
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Scientists. Curiosity and observation. Biotechniques. 2013 Aug; 55(2):53.
Score: 0.086
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Preclinical research in Rett syndrome: setting the foundation for translational success. Dis Model Mech. 2012 Nov; 5(6):733-45.
Score: 0.082
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Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis. Am J Hum Genet. 1992 Feb; 50(2):278-87.
Score: 0.078
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For Huda Zoghbi, collaboration is the key to unlocking the secrets of neurobiology. Interview by Kathryn Claiborn. J Clin Invest. 2011 Sep; 121(9):3364.
Score: 0.076
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A de novo X;3 translocation in Rett syndrome. Am J Med Genet. 1990 Jan; 35(1):148-51.
Score: 0.067
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Patterns of X chromosome inactivation in the Rett syndrome. Brain Dev. 1990; 12(1):131-5.
Score: 0.067
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MeCP2, a key contributor to neurological disease, activates and represses transcription. Science. 2008 May 30; 320(5880):1224-9.
Score: 0.060
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Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology. 2008 Apr 15; 70(16):1313-21.
Score: 0.060
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A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Hum Mol Genet. 2008 Jun 15; 17(12):1718-27.
Score: 0.059
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Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis. Hum Mol Genet. 2007 Oct 01; 16(19):2315-25.
Score: 0.057
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Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2. Proc Natl Acad Sci U S A. 2005 Dec 06; 102(49):17551-8.
Score: 0.050
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Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. J Med Genet. 2005 Feb; 42(2):e15.
Score: 0.048
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A mutant form of MeCP2 protein associated with human Rett syndrome cannot be displaced from methylated DNA by notch in Xenopus embryos. Mol Cell. 2003 Aug; 12(2):425-35.
Score: 0.043
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Modelling brain diseases in mice: the challenges of design and analysis. Nat Rev Genet. 2003 Apr; 4(4):296-307.
Score: 0.042
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Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. Am J Hum Genet. 2000 Dec; 67(6):1428-36.
Score: 0.036
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Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet. 1999 Dec; 65(6):1520-9.
Score: 0.034
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Mecp2 Deletion from Cholinergic Neurons Selectively Impairs Recognition Memory and Disrupts Cholinergic Modulation of the Perirhinal Cortex. eNeuro. 2019 Nov/Dec; 6(6).
Score: 0.033
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Apparent bias toward long gene misregulation in MeCP2 syndromes disappears after controlling for baseline variations. Nat Commun. 2018 08 13; 9(1):3225.
Score: 0.031
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A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. Am J Hum Genet. 1997 Sep; 61(3):634-41.
Score: 0.029
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Rett syndrome: controlled study of an oral opiate antagonist, naltrexone. Ann Neurol. 1994 Apr; 35(4):464-70.
Score: 0.023