Morris CA. Introduction: Williams syndrome. Am J Med Genet Part C: Semin Med Genet. 2010;154C:203–8.
Pober BR. Williams–Beuren Syndrome. N. Engl J Med. 2010;362:239–52.
Kozel BA, Barak B, Kim CA, Mervis CB, Osborne LR, Porter M, et al. Williams syndrome. Nat Rev Dis Primers. 2021;7:42.
Barak B, Feng G. Neurobiology of social behavior abnormalities in autism and Williams syndrome. Nat Neurosci. 2016;19:647–55.
Zanella M, Vitriolo A, Andirko A, Martins PT, Sturm S, O’Rourke T, et al. Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication. Sci Adv. 2019;5:eaaw7908.
Cha SG, Song MK, Lee SY, Kim GB, Kwak JG, Kim WH, et al. Long-term cardiovascular outcome of Williams syndrome. Congenit Heart Dis. 2019;14:684–90.
Del Pasqua A, Rinelli G, Toscano A, Iacobelli R, Digilio C, Marino B, et al. New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams-Beuren-Beuren syndrome. Cardiol Young-. 2009;19:563–7.
Collins RT II. Cardiovascular disease in Williams syndrome. Curr Opin Pediatr. 2018;30:609–15.
Pober BR, Wang E, Caprio S, Petersen KF, Brandt C, Stanley T, et al. High prevalence of diabetes and pre-diabetes in adults with Williams syndrome. Am J Med Genet Part C: Semin Med Genet. 2010;154C:291–8.
Andersson SA, Olsson AH, Esguerra JLS, Heimann E, Ladenvall C, Edlund A, et al. Reduced insulin secretion correlates with decreased expression of exocytotic genes in pancreatic islets from patients with type 2 diabetes. Mol Cell Endocrinol. 2012;364:36–45.
Frangiskakis JM, Ewart AK, Morris CA, Mervis CB, Bertrand J, Robinson BF, et al. LIM-kinase1 Hemizygosity Implicated in Impaired Visuospatial Constructive Cognition. Cell. 1996;86:59–69.
Greiner de Magalhães C, Pitts CH, Mervis CB. Executive function as measured by the Behavior Rating Inventory of Executive Function-2: children and adolescents with Williams syndrome. J Intellect Disabil Res. 2022;66:94–107.
Mervis CB, John AE. Cognitive and behavioral characteristics of children with Williams syndrome: Implications for intervention approaches. Am J Med Genet Part C: Semin Med Genet. 2010;154C:229–48.
Miezah D, Porter M, Rossi A, Kazzi C, Batchelor J, Reeve J. Cognitive profile of young children with Williams syndrome. J Intellect Disabil Res. 2021;65:784–94.
Meyer-Lindenberg A, Mervis CB, Faith Berman K. Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour. Nat Rev Neurosci. 2006;7:380–93.
Morris CA, Braddock SR, Council On G, Chen E, Trotter TL, Berry SA, et al. Health care supervision for children with Williams Syndrome. Pediatrics. 2020;145:2019–3761.
Martens MA, Wilson SJ, Reutens DC. Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. J Child Psychol Psychiatry. 2008;49:576–608.
Sanders StephanJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MichaelT, Moreno-De-Luca D, et al. Multiple recurrent De Novo CNVs, Including duplications of the 7q11.23 Williams Syndrome Region, are strongly associated with Autism. Neuron. 2011;70:863–85.
Crespi BJ, Procyshyn TL. Williams syndrome deletions and duplications: Genetic windows to understanding anxiety, sociality, autism, and schizophrenia. Neurosci Biobehav Rev. 2017;79:14–26.
Mulle JG, Pulver AE, McGrath JA, Wolyniec PS, Dodd AF, Cutler DJ, et al. Reciprocal duplication of the Williams-Beuren Syndrome deletion on chromosome 7q11.23 is associated with Schizophrenia. Biol Psychiatry. 2014;75:371–7.
Barak B, Zhang Z, Liu Y, Nir A, Trangle SS, Ennis M, et al. Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioral and myelin alterations rescuable by a remyelinating drug. Nat Neurosci. 2019;22:700–8.
Strong E, Butcher DT, Singhania R, Mervis CB, Morris CA, Carvalho DD, et al. Symmetrical dose-dependent DNA-methylation profiles in children with deletion or duplication of 7q11.23. Am J Hum Genet. 2015;97:216–27.
Kimura R, Lardenoije R, Tomiwa K, Funabiki Y, Nakata M, Suzuki S, et al. Integrated DNA methylation analysis reveals a potential role for ANKRD30B in Williams syndrome. Neuropsychopharmacology. 2020;45:1627–36.
Nir A, Barak B. White matter alterations in Williams syndrome related to behavioral and motor impairments. Glia. 2021;69:5–19.
Grad M, Nir A, Levy G, Trangle SS, Shapira G, Shomron N, et al. Altered white matter and microRNA expression in a murine model related to Williams Syndrome suggests that miR-34b/c affects brain development via Ptpru and Dcx Modulation. Cells. 2022;11:158.
Berger SL, Kouzarides T, Shiekhattar R, Shilatifard A. An operational definition of epigenetics. Genes Dev. 2009;23:781–3.
Bird A. Perceptions of epigenetics. Nature. 2007;447:396–8.
Nott A, Holtman IR, Coufal NG, Schlachetzki JCM, Yu M, Hu R, et al. Brain cell type–specific enhancer–promoter interactome maps and disease-risk association. Science. 2019;366:1134.
Tsankova N, Renthal W, Kumar A, Nestler EJ. Epigenetic regulation in psychiatric disorders. Nat Rev Neurosci. 2007;8:355–67.
Cho KS, Elizondo LI, Boerkoel CF. Advances in chromatin remodeling and human disease. Curr Opin Genet Dev. 2004;14:308–15.
Kadoch C, Crabtree GR. Mammalian SWI/SNF chromatin remodeling complexes and cancer: Mechanistic insights gained from human genomics. Sci Adv. 2015;1:e1500447.
Culver-Cochran AE, Chadwick BP. Loss of WSTF results in spontaneous fluctuations of heterochromatin formation and resolution, combined with substantial changes to gene expression. BMC Genomics. 2013;14:740.
Jangani M, Poolman TM, Matthews L, Yang N, Farrow SN, Berry A, et al. The Methyltransferase WBSCR22/Merm1 enhances glucocorticoid receptor function and is regulated in lung inflammation and cancer. J Biol Chem. 2014;289:8931–46.
Schosserer M, Minois N, Angerer TB, Amring M, Dellago H, Harreither E, et al. Methylation of ribosomal RNA by NSUN5 is a conserved mechanism modulating organismal lifespan. Nat Commun. 2015;6:6158.
Peña-Hernández R, Marques M, Hilmi K, Zhao T, Saad A, Alaoui-Jamali MA, et al. Genome-wide targeting of the epigenetic regulatory protein CTCF to gene promoters by the transcription factor TFII-I. Proc Natl Acad Sci USA. 2015;112:E677–86.
Lazebnik MB, Tussie-Luna MI, Roy AL. Determination and functional analysis of the consensus binding site for TFII-I family member BEN, implicated in Williams-Beuren syndrome. J Biol Chem. 2008;283:11078–82.
Makeyev AV, Bayarsaihan D. ChIP-Chip Identifies SEC23A, CFDP1, and NSD1 as TFII-I Target Genes in Human Neural Crest Progenitor Cells. Cleft Palate Craniofac J. 2013;50:347–50.
Bayarsaihan D, Makeyev AV, Enkhmandakh B. Epigenetic modulation by TFII-I during embryonic stem cell differentiation. J Cell Biochem. 2012;113:3056–60.
Bayarsaihan D. What role does TFII-I have to play in epigenetic modulation during embryogenesis? Epigenomics. 2013;5:9–11.
Roy AL. Role of the multifunctional transcription factor TFII-I in DNA damage repair. DNA Repair. 2021;106:103175.
Makeyev AV, Enkhmandakh B, Hong SH, Joshi P, Shin DG, Bayarsaihan D. Diversity and complexity in chromatin recognition by TFII-I transcription factors in pluripotent embryonic stem cells and embryonic tissues. PLoS One. 2012;7:e44443.
Tussié-Luna MI, Bayarsaihan D, Seto E, Ruddle FH, Roy AL. Physical and functional interactions of histone deacetylase 3 with TFII-I family proteins and PIASxβ. Proc Natl Acad Sci. 2002;99:12807–12.
Crusselle-Davis VJ, Zhou Z, Anantharaman A, Moghimi B, Dodev T, Huang S, et al. Recruitment of coregulator complexes to the β-globin gene locus by TFII-I and upstream stimulatory factor. FEBS J. 2007;274:6065–73.
Hakimi M-A, Dong Y, Lane WS, Speicher DW, Shiekhattar R. A candidate X-linked mental retardation gene is a component of a new family of Histone Deacetylase-containing complexes. J Biol Chem. 2003;278:7234–9.
Pacaud R, Sery Q, Oliver L, Vallette FM, Tost J, Cartron P-F. DNMT3L interacts with transcription factors to target DNMT3L/DNMT3B to specific DNA sequences: Role of the DNMT3L/DNMT3B/p65-NFκB complex in the (de-)methylation of TRAF1. Biochimie. 2014;104:36–49.
Greenberg MVC, Bourc’his D. The diverse roles of DNA methylation in mammalian development and disease. Nat Rev Mol Cell Biol. 2019;20:590–607.
Yao B, Christian KM, He C, Jin P, Ming G-l, Song H. Epigenetic mechanisms in neurogenesis. Nat Rev Neurosci. 2016;17:537–49.
Guo H, Zhu P, Yan L, Li R, Hu B, Lian Y, et al. The DNA methylation landscape of human early embryos. Nature. 2014;511:606–10.
Smith ZD, Meissner A. DNA methylation: roles in mammalian development. Nat Rev Genet. 2013;14:204–20.
Moyon S, Huynh JL, Dutta D, Zhang F, Ma D, Yoo S, et al. Functional characterization of DNA methylation in the oligodendrocyte lineage. Cell Rep. 2016;15:748–60.
Liu J, Casaccia P. Epigenetic regulation of oligodendrocyte identity. Trends Neurosci. 2010;33:193–201.
Liu J, Moyon S, Hernandez M, Casaccia P. Epigenetic control of oligodendrocyte development: adding new players to old keepers. Curr Opin Neurobiol. 2016;39:133–8.
Aref-Eshghi E, Rodenhiser DI, Schenkel LC, Lin H, Skinner C, Ainsworth P, et al. Genomic DNA methylation signatures enable concurrent diagnosis and clinical genetic variant classification in neurodevelopmental syndromes. Am J Hum Genet. 2018;102:156–74.
Corley MJ, Vargas-Maya N, Pang APS, Lum-Jones A, Li D, Khadka V, et al. Epigenetic delay in the neurodevelopmental trajectory of DNA methylation states in autism spectrum disorders. Front Genet. 2019;10:907.
Godler DE, Amor DJ. DNA methylation analysis for screening and diagnostic testing in neurodevelopmental disorders. Essays Biochem. 2019;63:785–95.
Moyon S, Ma D, Huynh JL, Coutts DJC, Zhao C, Casaccia P, et al. Efficient remyelination requires DNA methylation. eNeuro. 2017;4:ENEURO.0336-16.2017.
Moyon S, Casaccia P. DNA methylation in oligodendroglial cells during developmental myelination and in disease. Neurogenesis (Austin). 2017;4:e1270381.
Liu J, Magri L, Zhang F, Marsh NO, Albrecht S, Huynh JL, et al. Chromatin landscape defined by repressive histone methylation during oligodendrocyte differentiation. J Neurosci. 2015;35:352–65.
Huynh JL, Casaccia P. Defining the chromatin landscape in demyelinating disorders. Neurobiol Dis. 2010;39:47–52.
Liu J, Sandoval J, Doh ST, Cai L, López-Rodas G, Casaccia P. Epigenetic modifiers are necessary but not sufficient for reprogramming non-myelinating cells into myelin gene-expressing cells. PLoS One. 2010;5:e13023.
Jang HS, Shin WJ, Lee JE, Do JT. CpG and non-CpG methylation in epigenetic gene regulation and brain function. Genes. 2017;8:148.
Wang Z, Tang B, He Y, Jin P. DNA methylation dynamics in neurogenesis. Epigenomics. 2016;8:401–14.
Sandoval J, Heyn H, Moran S, Serra-Musach J, Pujana MA, Bibikova M, et al. Validation of a DNA methylation microarray for 450,000 CpG sites in the human genome. Epigenetics. 2011;6:692–702.
Ladd-Acosta C, Hansen KD, Briem E, Fallin MD, Kaufmann WE, Feinberg AP. Common DNA methylation alterations in multiple brain regions in autism. Mol Psychiatry. 2014;19:862–71.
Numata S, Ye T, Herman M, Lipska BK. DNA methylation changes in the postmortem dorsolateral prefrontal cortex of patients with schizophrenia. Front Genet. 2014;5:280.
Veyrac A, Besnard A, Caboche J, Davis S, Laroche S. Chapter Four – The Transcription Factor Zif268/Egr1, Brain Plasticity, and Memory, in Progress in Molecular Biology and Translational Science, ZU Khan and EC Muly, Editors. 2014, Academic Press. 89–129.
O’Donovan KJ, Tourtellotte WG, Millbrandt J, Baraban JM. The EGR family of transcription-regulatory factors: progress at the interface of molecular and systems neuroscience. Trends Neurosci. 1999;22:167–73.
Bacon C, Rappold GA. The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders. Hum Genet. 2012;131:1687–98.
Lee B-K, Iyer VR. Genome-wide studies of CCCTC-binding Factor (CTCF) and cohesin provide insight into chromatin structure and regulation. J Biol Chem. 2012;287:30906–13.
Semick SA, Bharadwaj RA, Collado-Torres L, Tao R, Shin JH, Deep-Soboslay A, et al. Integrated DNA methylation and gene expression profiling across multiple brain regions implicate novel genes in Alzheimerʼs disease. Acta Neuropathol. 2019;137:557–69.
Marin-Husstege M, He Y, Li J, Kondo T, Sablitzky F, Casaccia-Bonnefil P. Multiple roles of Id4 in developmental myelination: Predicted outcomes and unexpected findings. Glia. 2006;54:285–96.
Kondo T, Raff M. The Id4 HLH protein and the timing of oligodendrocyte differentiation. EMBO J. 2000;19:1998–2007.
Guillemain A, Laouarem Y, Cobret L, Štefok D, Chen W, Bloch S, et al. LINGO family receptors are differentially expressed in the mouse brain and form native multimeric complexes. FASEB J. 2020;34:13641–53.
Mi S, Hu B, Hahm K, Luo Y, Kam Hui ES, Yuan Q, et al. LINGO-1 antagonist promotes spinal cord remyelination and axonal integrity in MOG-induced experimental autoimmune encephalomyelitis. Nat Med. 2007;13:1228–33.
Mi S, Miller RH, Lee X, Scott ML, Shulag-Morskaya S, Shao Z, et al. LINGO-1 negatively regulates myelination by oligodendrocytes. Nat Neurosci. 2005;8:745–51.
Chen Y, Pal B, Visvader JE, Smyth GK. Differential methylation analysis of reduced representation bisulfite sequencing experiments using edgeR. F1000Research. 2017;6:2055.
Maunakea AK, Nagarajan RP, Bilenky M, Ballinger TJ, D’Souza C, Fouse SD, et al. Conserved role of intragenic DNA methylation in regulating alternative promoters. Nature. 2010;466:253–7.
Spindola LM, Santoro ML, Pan PM, Ota VK, Xavier G, Carvalho CM, et al. Detecting multiple differentially methylated CpG sites and regions related to dimensional psychopathology in youths. Clin Epigenetics. 2019;11:146.
Jeong H, Mendizabal I, Berto S, Chatterjee P, Layman T, Usui N, et al. Evolution of DNA methylation in the human brain. Nat Commun. 2021;12:2021.
Heinz S, Benner C, Spann N, Bertolino E, Lin YC, Laslo P, et al. Simple combinations of lineage-determining transcription factors prime cis-regulatory elements required for macrophage and B cell identities. Mol Cell. 2010;38:576–89.
Roth RB, Hevezi P, Lee J, Willhite D, Lechner SM, Foster AC, et al. Gene expression analyses reveal molecular relationships among 20 regions of the human CNS. Neurogenetics. 2006;7:67–80.
Lin A, Wang RT, Ahn S, Park CC, Smith DJ. A genome-wide map of human genetic interactions inferred from radiation hybrid genotypes. Genome Res. 2010;20:1122–32.
Beckmann AM, Wilce PA. Egr transcription factors in the nervous system. Neurochemistry Int. 1997;31:477–510.
Kim SH, Song JY, Joo EJ, Lee KY, Shin SY, Lee YH, et al. Genetic association of the EGR2 gene with bipolar disorder in Korea. Exp Mol Med. 2012;44:121–9.
Morris ME, Viswanathan N, Kuhlman S, Davis FC, Weitz CJ. A screen for genes induced in the suprachiasmatic nucleus by light. Science. 1998;279:1544–7.
Hu VW, Frank BC, Heine S, Lee NH, Quackenbush J. Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes. BMC Genomics. 2006;7:118.
Wang T, Xiong J-Q. The orphan nuclear receptor TLX/NR2E1 in neural stem cells and diseases. Neurosci Bull. 2016;32:108–14.
Zhang C-L, Zou Y, He W, Gage FH, Evans RM. A role for adult TLX-positive neural stem cells in learning and behaviour. Nature. 2008;451:1004–7.
Kumar RA, McGhee KA, Leach S, Bonaguro R, Maclean A, Aguirre-Hernandez R, et al. Initial association of NR2E1 with bipolar disorder and identification of candidate mutations in bipolar disorder, schizophrenia, and aggression through resequencing. Am J Med Genet Part B: Neuropsychiatr Genet. 2008;147B:880–9.
O’Leary JD, Kozareva DA, Hueston CM, O’Leary OF, Cryan JF, Nolan YM. The nuclear receptor Tlx regulates motor, cognitive and anxiety-related behaviours during adolescence and adulthood. Behav Brain Res. 2016;306:36–47.
Yamakawa H, Cheng J, Penney J, Gao F, Rueda R, Wang J, et al. The Transcription Factor Sp3 cooperates with HDAC2 to regulate synaptic function and plasticity in neurons. Cell Rep. 2017;20:1319–34.
Thumfart KM, Jawaid A, Bright K, Flachsmann M, Mansuy IM. Epigenetics of childhood trauma: Long term sequelae and potential for treatment. Neurosci Biobehav Rev. 2022;132:1049–66.
Day JJ, Kennedy AJ, Sweatt JD. DNA Methylation and its implications and accessibility for neuropsychiatric therapeutics. Annu Rev Pharmacol Toxicol. 2015;55:591–611.
Meaney MJ, Szyf M. Environmental programming of stress responses through DNA methylation: life at the interface between a dynamic environment and a fixed genome. Dialogues Clin Neurosci. 2005;7:103–23.
Rajarajan P, Gil SE, Brennand KJ, Akbarian S. Spatial genome organization and cognition. Nat Rev Neurosci. 2016;17:681–91.
Kempfer R, Pombo A. Methods for mapping 3D chromosome architecture. Nat Rev Genet. 2020;21:207–26.
Bernstein BE, Stamatoyannopoulos Ja, Costello Jf, Ren B, Milosavljevic A, Meissner A, et al. The NIH Roadmap Epigenomics Mapping Consortium. Nat Biotechnol. 2010;28:1045–8.
Irimia M, Weatheritt RJ, Ellis JD, Parikshak NN, Gonatopoulos-Pournatzis T, Babor M, et al. A highly conserved program of neuronal microexons is misregulated in autistic brains. Cell. 2014;159:1511–23.
Chailangkarn T, Trujillo CA, Freitas BC, Hrvoj-Mihic B, Herai RH, Yu DX, et al. A human neurodevelopmental model for Williams syndrome. Nature. 2016;536:338–43.
Zhou J, Sears RL, Xing X, Zhang B, Li D, Rockweiler NB, et al. Tissue-specific DNA methylation is conserved across human, mouse, and rat, and driven by primary sequence conservation. BMC Genomics. 2017;18:724.
Lokk K, Modhukur V, Rajashekar B, Märtens K, Mägi R, Kolde R, et al. DNA methylome profiling of human tissues identifies global and tissue-specific methylation patterns. Genome Biol. 2014;15:3248.
Andrews SV, Ellis SE, Bakulski KM, Sheppard B, Croen LA, Hertz-Picciotto I, et al. Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder. Nat Commun. 2017;8:1011.
Pott S, Lieb JD. What are super-enhancers? Nat Genet. 2015;47:8–12.
Simons M, Trajkovic K. Neuron-glia communication in the control of oligodendrocyte function and myelin biogenesis. J Cell Sci. 2006;119:4381–9.
Barres BA, Schmid R, Sendnter M, Raff MC. Multiple extracellular signals are required for long-term oligodendrocyte survival. Development. 1993;118:283–95.
Fields RD, Stevens-Graham B. New insights into neuron-glia communication. Science. 2002;298:556–62.
Mitew S, Hay CM, Peckham H, Xiao J, Koenning M, Emery B. Mechanisms regulating the development of oligodendrocytes and central nervous system myelin. Neuroscience. 2014;276:29–47.
Bilican B, Fiore-Heriche C, Compston A, Allen ND, Chandran S. Induction of Olig2+ precursors by FGF involves BMP signalling blockade at the smad level. PLOS ONE. 2008;3:e2863.
Michailov Galin V, Sereda Michael W, Brinkmann Bastian G, Fischer Tobias M, Haug B, Birchmeier C, et al. Axonal Neuregulin-1 regulates myelin sheath thickness. Science. 2004;304:700–3.
Xiao J, Ferner AH, Wong AW, Denham M, Kilpatrick TJ, Murray SS. Extracellular signal-regulated kinase 1/2 signaling promotes oligodendrocyte myelination in vitro. J Neurochemistry. 2012;122:1167–80.
Xiao J, Wong AW, Willingham MM, van den Buuse M, Kilpatrick TJ, Murray SS. Brain-derived neurotrophic factor promotes central nervous system myelination via a direct effect upon oligodendrocytes. Neurosignals. 2010;18:186–202.
Gendron-Maguire M, Mallo M, Zhang M, Gridley T. Hoxa-2 mutant mice exhibit homeotic transformation of skeletal elements derived from cranial neural crest. Cell. 1993;75:1317–31.
Santagati F, Minoux M, Ren S-Y, Rijli FM. Temporal requirement of Hoxa2 in cranial neural crest skeletal morphogenesis. Development. 2005;132:4927–36.
Tavella S, Bobola N. Expressing Hoxa2 across the entire endochondral skeleton alters the shape of the skeletal template in a spatially restricted fashion. Differentiation. 2010;79:194–202.
Boeckx, C and Benítez-Burraco A, Osteogenesis and neurogenesis: a robust link also for language evolution. Front Cell Neurosci., 2015. 9.
Fukushima N, Furuta D, Hidaka Y, Moriyama R, Tsujiuchi T. Post-translational modifications of tubulin in the nervous system. J Neurochemistry. 2009;109:683–93.
Gadadhar S, Alvarez Viar G, Hansen JN, Gong A, Kostarev A, Ialy-Radio C, et al. Tubulin glycylation controls axonemal dynein activity, flagellar beat, and male fertility. Science. 2021;371:6525.
Jang S-W, Srinivasan R, Jones EA, Sun G, Keles S, Krueger C, et al. Locus-wide identification of Egr2/Krox20 regulatory targets in myelin genes. J Neurochemistry. 2010;115:1409–20.
Kuhlbrodt K, Herbarth B, Sock E, Hermans-Borgmeyer I, Wegner M. Sox10, a novel transcriptional modulator in glial cells. J Neurosci. 1998;18:237.
LeBlanc SE, Jang S-W, Ward RM, Wrabetz L, Svaren J. Direct regulation of myelin protein zero expression by the Egr2 transactivator. J Biol Chem. 2006;281:5453–60.
Swanberg SE, Nagarajan RP, Peddada S, Yasui DH, LaSalle JM. Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism. Hum Mol Genet. 2009;18:525–34.
Mager GM, Ward RM, Srinivasan R, Jang S-W, Wrabetz L, Svaren J. Active gene repression by the Egr2-NAB complex during peripheral nerve myelination. J Biol Chem. 2008;283:18187–97.
Le N, Nagarajan R, Wang JYT, Svaren J, LaPash C, Araki T, et al. Nab proteins are essential for peripheral nervous system myelination. Nat Neurosci. 2005;8:932–40.
Okano M, Bell DW, Haber DA, Li E. DNA Methyltransferases Dnmt3a and Dnmt3b are essential for De Novo methylation and mammalian development. Cell. 1999;99:247–57.
Gertz J, Varley KE, Reddy TE, Bowling KM, Pauli F, Parker SL, et al. Analysis of DNA methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation. PLOS Genet. 2011;7:e1002228.
Gölzenleuchter M, Kanwar R, Zaibak M, Al Saiegh F, Hartung T, Klukas J, et al. Plasticity of DNA methylation in a nerve injury model of pain. Epigenetics. 2015;10:200–12.
Nohara K, Nakabayashi K, Okamura K, Suzuki T, Suzuki S, Hata K. Gestational arsenic exposure induces site-specific DNA hypomethylation in active retrotransposon subfamilies in offspring sperm in mice. Epigenetics Chromatin. 2020;13:53.
Voisin A-S, Suarez Ulloa V, Stockwell P, Chatterjee A, Silvestre F, Genome-wide DNA. methylation of the liver reveals delayed effects of early-life exposure to 17-α-ethinylestradiol in the self-fertilizing mangrove rivulus. Epigenetics. 2022;17:473–97.
Baker Frost D, da Silveira W, Hazard ES, Atanelishvili I, Wilson RC, Flume J, et al. Differential DNA methylation landscape in skin fibroblasts from African Americans with systemic Sclerosis. Genes. 2021;12:129.
Raff MC, Miller RH, Noble M. A glial progenitor cell that develops in vitro into an astrocyte or an oligodendrocyte depending on culture medium. Nature. 1983;303:390–6.
Raff MC, Abney ER, Fok-Seang J. Reconstitution of a developmental clock in vitro: a critical role for astrocytes in the timing of oligodendrocyte differentiation. Cell. 1985;42:61–9.
Raff MC, Lillien LE, Richardson WD, Burne JF, Noble MD. Platelet-derived growth factor from astrocytes drives the clock that times oligodendrocyte development in culture. Nature. 1988;333:562–5.
Mi S, Lee X, Shao Z, Thill G, Ji B, Relton J, et al. LINGO-1 is a component of the Nogo-66 receptor/p75 signaling complex. Nat Neurosci. 2004;7:221–8.
Riechmann V, van Crüchten I, Sablitzky F. The expression pattern of Id4, a novel dominant negative helix-loop-helix protein, is distinct from Id1, 1d2 and Id3. Nucleic Acids Res. 1994;22:749–55.
Jen Y, Manova K, Benezra R. Expression patterns of Id1, Id2, and Id3 are highly related but distinct from that of Id4 during mouse embryogenesis. Dev Dyn: Off Publ Am Assoc Anatomists. 1996;207:235–52.
Norton JD, Deed RW, Craggs G, Sablitzky F. Id helix—loop—helix proteins in cell growth and differentiation. Trends Cell Biol. 1998;8:58–65.
Norton JD, Atherton GT. Coupling of cell growth control and apoptosis functions of Id proteins. Mol Cell Biol. 1998;18:2371–81.
Emery B. Regulation of oligodendrocyte differentiation and myelination. Science. 2010;330:779–82.
Plemel JR, Manesh SB, Sparling JS, Tetzlaff W. Myelin inhibits oligodendroglial maturation and regulates oligodendrocytic transcription factor expression. Glia. 2013;61:1471–87.
Huang H-S, Akbarian S. GAD1 mRNA expression and DNA methylation in prefrontal cortex of subjects with Schizophrenia. PLOS ONE. 2007;2:e809.
Tao R, Davis KN, Li C, Shin JH, Gao Y, Jaffe AE, et al. GAD1 alternative transcripts and DNA methylation in human prefrontal cortex and hippocampus in brain development, schizophrenia. Mol Psychiatry. 2018;23:1496–505.
Yizhar O, Fenno LE, Prigge M, Schneider F, Davidson TJ, O’Shea DJ, et al. Neocortical excitation/inhibition balance in information processing and social dysfunction. Nature. 2011;477:171–8.
Levy DR, Tamir T, Kaufman M, Parabucki A, Weissbrod A, Schneidman E, et al. Dynamics of social representation in the mouse prefrontal cortex. Nat Neurosci. 2019;22:2013–22.
Yizhar O, Levy DR. The social dilemma: prefrontal control of mammalian sociability. Curr Opin Neurobiol. 2021;68:67–75.
Chew L-J, Coley W, Cheng Y, Gallo V. Mechanisms of regulation of oligodendrocyte development by p38 Mitogen-activated Protein Kinase. J Neurosci. 2010;30:11011–27.
Liang X, Draghi NA, Resh MD. Signaling from Integrins to Fyn to Rho Family GTPases regulates morphologic differentiation of Oligodendrocytes. J Neurosci. 2004;24:7140.
Chen Y, Wu H, Wang S, Koito H, Li J, Ye F, et al. The oligodendrocyte-specific G protein–coupled receptor GPR17 is a cell-intrinsic timer of myelination. Nat Neurosci. 2009;12:1398–406.
Boda E, Viganò F, Rosa P, Fumagalli M, Labat-Gest V, Tempia F, et al. The GPR17 receptor in NG2 expressing cells: Focus on in vivocell maturation and participation in acute trauma and chronic damage. Glia. 2011;59:1958–73.
Carter CS, Grippo AJ, Pournajafi-Nazarloo H, Ruscio MG, and Porges SW, Oxytocin, vasopressin and sociality, in Progress in Brain Research, ID Neumann and R Landgraf, Editors. 2008, Elsevier. 331–6.
Heinrichs M, von Dawans B, Domes G. Oxytocin, vasopressin, and human social behavior. Front Neuroendocrinol. 2009;30:548–57.
Dai L, Carter CS, Ying J, Bellugi U, Pournajafi-Nazarloo H, Korenberg JR. Oxytocin and Vasopressin are dysregulated in williams syndrome, a genetic disorder affecting social behavior. PLOS ONE. 2012;7:e38513.
Meyer-Lindenberg A, Domes G, Kirsch P, Heinrichs M. Oxytocin and vasopressin in the human brain: social neuropeptides for translational medicine. Nat Rev Neurosci. 2011;12:524–38.
Johnson ZV, Young LJ. Oxytocin and vasopressin neural networks: Implications for social behavioral diversity and translational neuroscience. Neurosci Biobehav Rev. 2017;76:87–98.
Ebstein RP, Knafo A, Mankuta D, Chew SH, Lai PS. The contributions of oxytocin and vasopressin pathway genes to human behavior. Hormones Behav. 2012;61:359–79.
Landgraf R, Neumann ID. Vasopressin and oxytocin release within the brain: a dynamic concept of multiple and variable modes of neuropeptide communication. Front Neuroendocrinol. 2004;25:150–76.
Sue Carter C. Neuroendocrine perspectives on social attachment and love. Psychoneuroendocrinology. 1998;23:779–818.
Insel TR. The challenge of translation in social neuroscience: a review of oxytocin, vasopressin, and affiliative behavior. Neuron. 2010;65:768–79.
Haas BW and Smith AK, Oxytocin, vasopressin, and Williams syndrome: epigenetic effects on abnormal social behavior. Front Genet., 2015. 6.
Bakulski KM, Halladay A, Hu VW, Mill J, Fallin MD. Epigenetic research in neuropsychiatric disorders: the “Tissue Issue”. Curr Behav Neurosci Rep. 2016;3:264–74.
Nestler EJ, Peña CJ, Kundakovic M, Mitchell A, Akbarian S. Epigenetic basis of mental illness. Neuroscientist. 2015;22:447–63.
Tekendo-Ngongang C, Dahoun S, Nguefack S, Gimelli S, Sloan-Béna F, Wonkam A. Challenges in clinical diagnosis of williams-beuren syndrome in sub-saharan africans: case reports from cameroon. Mol Syndromol. 2014;5:287–92.
Lumaka A, Lukoo R, Mubungu G, Lumbala P, Mbayabo G, Mupuala A, et al. Williams-Beuren syndrome: pitfalls for diagnosis in limited resources setting. Clin Case Rep. 2016;4:294–7.
Jühling F, Kretzmer H, Bernhart SH, Otto C, Stadler PF, Hoffmann S. metilene: fast and sensitive calling of differentially methylated regions from bisulfite sequencing data. Genome Res. 2016;26:256–62.
Heinz S, Benner C, Spann N, Bertolino E, Lin YC, Laslo P, et al. Simple combinations of lineage-determining transcription factors prime cis-regulatory elements required for macrophage and B cell identities. Mol Cell. 2010;38:576–89.
Shen L. Gene Overlap: Test and visualize gene overlaps. 0.99.0. 2013. https://doi.org/10.18129/B9.bioc.GeneOverlap.
Zhou Y, Zhou B, Pache L, Chang MA-OX, Khodabakhshi AH, Tanaseichuk O, et al. Metascape provides a biologist-oriented resource for the analysis of systems-level datasets. Nat Commun. 2019;10:1523.
Robinson JT, Thorvaldsdóttir H, Winckler W, Guttman M, Lander ES, Getz G, et al. Integrative genomics viewer. Nat Biotechnol. 2011;29:24–26.
Kumar K, Oli A, Hallikeri K, Shilpasree AS, Goni M. An optimized protocol for total RNA isolation from archived formalin-fixed paraffin-embedded tissues to identify the long non-coding RNA in oral squamous cell carcinomas. MethodsX. 2021;9:101602.
Oudelaar AM, Downes DJ, Davies JOJ, Hughes JR. Low-input Capture-C: A chromosome conformation capture assay to analyze chromatin architecture in small numbers of cells. Bio Protoc. 2017;7:e2645.
Splinter E, Grosveld F, de Laat W. 3C technology: analyzing the spatial organization of genomic loci in vivo. Methods Enzymol. 2004;375:493–507.
I have been writing professionally for over 20 years and have a deep understanding of the psychological and emotional elements that affect people. I’m an experienced ghostwriter and editor, as well as an award-winning author of five novels.