Tessadori-Bicknell-van Haaften syndrome 3 overview pathway (Homo sapiens)

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This pathway depicts the mechanistic pathway map for Tessadori-Bicknell-van Haaften syndrome 3. The comprehensive pathways illustrating disease etiology can be cross-referenced and linked to other established pathways.

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  1. Louder RK, He Y, López-Blanco JR, Fang J, Chacón P, Nogales E; ''Structure of promoter-bound TFIID and model of human pre-initiation complex assembly.''; Nature, 2016 PubMed Europe PMC Scholia
  2. Zawerton A, Yao B, Yeager JP, Pippucci T, Haseeb A, Smith JD, Wischmann L, Kühl SJ, Dean JCS, Pilz DT, Holder SE, McNeill A, Graziano C, Lefebvre V; ''De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.''; Am J Hum Genet, 2019 PubMed Europe PMC Scholia
  3. Carvalho S, Raposo AC, Martins FB, Grosso AR, Sridhara SC, Rino J, Carmo-Fonseca M, de Almeida SF; ''Histone methyltransferase SETD2 coordinates FACT recruitment with nucleosome dynamics during transcription.''; Nucleic Acids Res, 2013 PubMed Europe PMC Scholia
  4. Nakamura K, Jeong SY, Uchihara T, Anno M, Nagashima K, Nagashima T, Ikeda S, Tsuji S, Kanazawa I; ''SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.''; Hum Mol Genet, 2001 PubMed Europe PMC Scholia
  5. Stefanovsky VY, Pelletier G, Hannan R, Gagnon-Kugler T, Rothblum LI, Moss T; ''An immediate response of ribosomal transcription to growth factor stimulation in mammals is mediated by ERK phosphorylation of UBF.''; Mol Cell, 2001 PubMed Europe PMC Scholia
  6. Ogryzko VV, Schiltz RL, Russanova V, Howard BH, Nakatani Y; ''The transcriptional coactivators p300 and CBP are histone acetyltransferases.''; Cell, 1996 PubMed Europe PMC Scholia
  7. Andreu-Agullo C, Maurin T, Thompson CB, Lai EC; ''Ars2 maintains neural stem-cell identity through direct transcriptional activation of Sox2.''; Nature, 2011 PubMed Europe PMC Scholia
  8. Fabregat A, Sidiropoulos K, Viteri G, Marin-Garcia P, Ping P, Stein L, D'Eustachio P, Hermjakob H; ''Reactome diagram viewer: data structures and strategies to boost performance.''; Bioinformatics, 2018 PubMed Europe PMC Scholia
  9. Zhang H, Liu CY, Zha ZY, Zhao B, Yao J, Zhao S, Xiong Y, Lei QY, Guan KL; ''TEAD transcription factors mediate the function of TAZ in cellgrowth and epithelial-mesenchymal transition.''; J Biol Chem, 2009 PubMed Europe PMC Scholia
  10. Yang X, Huang LY, Pan M, Xu LL, Zhen L, Han J, Li DZ; ''Exome sequencing improves genetic diagnosis of fetal increased nuchal translucency.''; Prenat Diagn, 2020 PubMed Europe PMC Scholia
  11. Hempel A, Pagnamenta AT, Blyth M, Mansour S, McConnell V, Kou I, Ikegawa S, Tsurusaki Y, Matsumoto N, Lo-Castro A, Plessis G, Albrecht B, Battaglia A, Taylor JC, Howard MF, Keays D, Sohal AS, Kühl SJ, Kini U, McNeill A; ''Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.''; J Med Genet, 2016 PubMed Europe PMC Scholia
  12. Edvardson S, Nicolae CM, Agrawal PB, Mignot C, Payne K, Prasad AN, Prasad C, Sadler L, Nava C, Mullen TE, Begtrup A, Baskin B, Powis Z, Shaag A, Keren B, Moldovan GL, Elpeleg O; ''Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.''; Am J Hum Genet, 2017 PubMed Europe PMC Scholia
  13. Liu Y, Zhang Y, Xue H, Cao M, Bai G, Mu Z, Yao Y, Sun S, Fang D, Huang J; ''Cryo-EM structure of SETD2/Set2 methyltransferase bound to a nucleosome containing oncohistone mutations.''; Cell Discov, 2021 PubMed Europe PMC Scholia
  14. Wilson MD, Benlekbir S, Fradet-Turcotte A, Sherker A, Julien JP, McEwan A, Noordermeer SM, Sicheri F, Rubinstein JL, Durocher D; ''The structural basis of modified nucleosome recognition by 53BP1.''; Nature, 2016 PubMed Europe PMC Scholia
  15. Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N; ''De novo SOX11 mutations cause Coffin-Siris syndrome.''; Nat Commun, 2014 PubMed Europe PMC Scholia
  16. Visconti R, Palazzo L, Della Monica R, Grieco D; ''Fcp1-dependent dephosphorylation is required for M-phase-promoting factor inactivation at mitosis exit.''; Nat Commun, 2012 PubMed Europe PMC Scholia
  17. Wu Y, Liu F, Wan R, Jiao B; ''A novel SETD2 variant causing global development delay without overgrowth in a Chinese 3-year-old boy.''; Front Genet, 2023 PubMed Europe PMC Scholia
  18. Reis LM, Seese S, Maheshwari M, Basel D, Weik L, McCarrier J, University Of Washington Center For Mendelian Genomics, Semina EV; ''Novel Genetic Diagnoses in Septo-Optic Dysplasia.''; Genes (Basel), 2022 PubMed Europe PMC Scholia
  19. Lumish HS, Wynn J, Devinsky O, Chung WK; ''Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.''; J Autism Dev Disord, 2015 PubMed Europe PMC Scholia
  20. Dy P, Penzo-Méndez A, Wang H, Pedraza CE, Macklin WB, Lefebvre V; ''The three SoxC proteins--Sox4, Sox11 and Sox12--exhibit overlapping expression patterns and molecular properties.''; Nucleic Acids Res, 2008 PubMed Europe PMC Scholia
  21. ''''; , PubMed Europe PMC Scholia
  22. Nahas LD, Datta A, Alsamman AM, Adly MH, Al-Dewik N, Sekaran K, Sasikumar K, Verma K, Doss GPC, Zayed H; ''Genomic insights and advanced machine learning: characterizing autism spectrum disorder biomarkers and genetic interactions.''; Metab Brain Dis, 2024 PubMed Europe PMC Scholia
  23. Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jizi K, Jacquemont S, Bélanger SA, Löhner K, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S, Pappas J; ''Genotype-phenotype correlation at codon 1740 of SETD2.''; Am J Med Genet A, 2020 PubMed Europe PMC Scholia
  24. Zhao B, Ye X, Yu J, Li L, Li W, Li S, Lin JD, Wang CY, Chinnaiyan AM, Lai ZC, Guan KL; ''TEAD mediates YAP-dependent gene induction and growth control.''; Genes Dev, 2008 PubMed Europe PMC Scholia
  25. Wood CM, Nicholson JM, Lambert SJ, Chantalat L, Reynolds CD, Baldwin JP; ''High-resolution structure of the native histone octamer.''; Acta Crystallogr Sect F Struct Biol Cryst Commun, 2005 PubMed Europe PMC Scholia
  26. Hacker KE, Fahey CC, Shinsky SA, Chiang YJ, DiFiore JV, Jha DK, Vo AH, Shavit JA, Davis IJ, Strahl BD, Rathmell WK; ''Structure/Function Analysis of Recurrent Mutations in SETD2 Protein Reveals a Critical and Conserved Role for a SET Domain Residue in Maintaining Protein Stability and Histone H3 Lys-36 Trimethylation.''; J Biol Chem, 2016 PubMed Europe PMC Scholia
  27. Hendrich B, Bird A; ''Identification and characterization of a family of mammalian methyl-CpG binding proteins.''; Mol Cell Biol, 1998 PubMed Europe PMC Scholia
  28. Hoser M, Potzner MR, Koch JM, Bösl MR, Wegner M, Sock E; ''Sox12 deletion in the mouse reveals nonreciprocal redundancy with the related Sox4 and Sox11 transcription factors.''; Mol Cell Biol, 2008 PubMed Europe PMC Scholia
  29. Roelfsema JH, White SJ, Ariyürek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ; ''Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.''; Am J Hum Genet, 2005 PubMed Europe PMC Scholia
  30. Zhou M, Dai L, Li C, Shi L, Huang Y, Guo Z, Wu F, Zhu P, Zhou Z; ''Structural basis of nucleosome dynamics modulation by histone variants H2A.B and H2A.Z.2.2.''; EMBO J, 2021 PubMed Europe PMC Scholia
  31. Nishioka K, Rice JC, Sarma K, Erdjument-Bromage H, Werner J, Wang Y, Chuikov S, Valenzuela P, Tempst P, Steward R, Lis JT, Allis CD, Reinberg D; ''PR-Set7 is a nucleosome-specific methyltransferase that modifies lysine 20 of histone H4 and is associated with silent chromatin.''; Mol Cell, 2002 PubMed Europe PMC Scholia
  32. Sekulic N, Bassett EA, Rogers DJ, Black BE; ''The structure of (CENP-A-H4)(2) reveals physical features that mark centromeres.''; Nature, 2010 PubMed Europe PMC Scholia
  33. Guo Y, Kartawinata M, Li J, Pickett HA, Teo J, Kilo T, Barbaro PM, Keating B, Chen Y, Tian L, Al-Odaib A, Reddel RR, Christodoulou J, Xu X, Hakonarson H, Bryan TM; ''Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.''; Blood, 2014 PubMed Europe PMC Scholia
  34. Chen X, Qi Y, Wu Z, Wang X, Li J, Zhao D, Hou H, Li Y, Yu Z, Liu W, Wang M, Ren Y, Li Z, Yang H, Xu Y; ''Structural insights into preinitiation complex assembly on core promoters.''; Science, 2021 PubMed Europe PMC Scholia
  35. Meng L, Isohanni P, Shao Y, Graham BH, Hickey SE, Brooks S, Suomalainen A, Joset P, Steindl K, Rauch A, Hackenberg A, High FA, Armstrong-Javors A, Mencacci NE, Gonzàlez-Latapi P, Kamel WA, Al-Hashel JY, Bustos BI, Hernandez AV, Krainc D, Lubbe SJ, Van Esch H, De Luca C, Ballon K, Ravelli C, Burglen L, Qebibo L, Calame DG, Mitani T, Marafi D, Pehlivan D, Saadi NW, Sahin Y, Maroofian R, Efthymiou S, Houlden H, Maqbool S, Rahman F, Gu S, Posey JE, Lupski JR, Hunter JV, Wangler MF, Carroll CJ, Yang Y; ''MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.''; Ann Neurol, 2021 PubMed Europe PMC Scholia
  36. Zou JX, Revenko AS, Li LB, Gemo AT, Chen HW; ''ANCCA, an estrogen-regulated AAA+ ATPase coactivator for ERalpha, is required for coregulator occupancy and chromatin modification.''; Proc Natl Acad Sci U S A, 2007 PubMed Europe PMC Scholia
  37. Okuwaki M, Kato K, Nagata K; ''Functional characterization of human nucleosome assembly protein 1-like proteins as histone chaperones.''; Genes Cells, 2010 PubMed Europe PMC Scholia
  38. Bhattaram P, Penzo-Méndez A, Sock E, Colmenares C, Kaneko KJ, Vassilev A, Depamphilis ML, Wegner M, Lefebvre V; ''Organogenesis relies on SoxC transcription factors for the survival of neural and mesenchymal progenitors.''; Nat Commun, 2010 PubMed Europe PMC Scholia
  39. Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, Muggenthaler M, Rich P, Wagner K, Coblentz R, Stein CK, Last JI, Taylor AM, Jackson AP, Ogi T, Lehmann AR, Green CM, Crosby AH; ''Hypomorphic PCNA mutation underlies a human DNA repair disorder.''; J Clin Invest, 2014 PubMed Europe PMC Scholia
  40. O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE; ''Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.''; Nature, 2012 PubMed Europe PMC Scholia
  41. Richardson RT, Alekseev OM, Grossman G, Widgren EE, Thresher R, Wagner EJ, Sullivan KD, Marzluff WF, O'Rand MG; ''Nuclear autoantigenic sperm protein (NASP), a linker histone chaperone that is required for cell proliferation.''; J Biol Chem, 2006 PubMed Europe PMC Scholia
  42. Wang H, Wang M, Yang N, Xu RM; ''Structure of the quaternary complex of histone H3-H4 heterodimer with chaperone ASF1 and the replicative helicase subunit MCM2.''; Protein Cell, 2015 PubMed Europe PMC Scholia
  43. Liu CP, Xiong C, Wang M, Yu Z, Yang N, Chen P, Zhang Z, Li G, Xu RM; ''Structure of the variant histone H3.3-H4 heterodimer in complex with its chaperone DAXX.''; Nat Struct Mol Biol, 2012 PubMed Europe PMC Scholia
  44. Pathare GR, Decout A, Glück S, Cavadini S, Makasheva K, Hovius R, Kempf G, Weiss J, Kozicka Z, Guey B, Melenec P, Fierz B, Thomä NH, Ablasser A; ''Structural mechanism of cGAS inhibition by the nucleosome.''; Nature, 2020 PubMed Europe PMC Scholia
  45. Plotnikov AN, Yang S, Zhou TJ, Rusinova E, Frasca A, Zhou MM; ''Structural insights into acetylated-histone H4 recognition by the bromodomain-PHD finger module of human transcriptional coactivator CBP.''; Structure, 2014 PubMed Europe PMC Scholia
  46. Chapman JR, Sossick AJ, Boulton SJ, Jackson SP; ''BRCA1-associated exclusion of 53BP1 from DNA damage sites underlies temporal control of DNA repair.''; J Cell Sci, 2012 PubMed Europe PMC Scholia
  47. Takahashi K, Tanabe K, Ohnuki M, Narita M, Ichisaka T, Tomoda K, Yamanaka S; ''Induction of pluripotent stem cells from adult human fibroblasts by defined factors.''; Cell, 2007 PubMed Europe PMC Scholia
  48. Xi ZQ, Wang XF, He RQ, Li MW, Liu XZ, Wang LY, Zhu X, Xiao F, Sun JJ, Li JM, Gong Y, Guan LF; ''Extracellular signal-regulated protein kinase in human intractable epilepsy.''; Eur J Neurol, 2007 PubMed Europe PMC Scholia
  49. Brackertz M, Gong Z, Leers J, Renkawitz R; ''p66alpha and p66beta of the Mi-2/NuRD complex mediate MBD2 and histone interaction.''; Nucleic Acids Res, 2006 PubMed Europe PMC Scholia
  50. Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV; ''Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.''; Am J Med Genet A, 2009 PubMed Europe PMC Scholia
  51. Stewart GS, Stankovic T, Byrd PJ, Wechsler T, Miller ES, Huissoon A, Drayson MT, West SC, Elledge SJ, Taylor AM; ''RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling.''; Proc Natl Acad Sci U S A, 2007 PubMed Europe PMC Scholia
  52. van Rij MC, Hollink IHIM, Terhal PA, Kant SG, Ruivenkamp C, van Haeringen A, Kievit JA, van Belzen MJ; ''Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.''; Am J Med Genet A, 2018 PubMed Europe PMC Scholia
  53. Fard YA, Sadeghi EN, Pajoohesh Z, Gharehdaghi Z, Khatibi DM, Khosravifar S, Pishkari Y, Nozari S, Hijazi A, Pakmehr S, Shayan SK; ''Epigenetic underpinnings of the autistic mind: Histone modifications and prefrontal excitation/inhibition imbalance.''; Am J Med Genet B Neuropsychiatr Genet, 2024 PubMed Europe PMC Scholia
  54. Sigurdsson S, Van Komen S, Petukhova G, Sung P; ''Homologous DNA pairing by human recombination factors Rad51 and Rad54.''; J Biol Chem, 2002 PubMed Europe PMC Scholia
  55. Sandoz J, Nagy Z, Catez P, Caliskan G, Geny S, Renaud JB, Concordet JP, Poterszman A, Tora L, Egly JM, Le May N, Coin F; ''Functional interplay between TFIIH and KAT2A regulates higher-order chromatin structure and class II gene expression.''; Nat Commun, 2019 PubMed Europe PMC Scholia
  56. Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR; ''Mutations in SOX2 cause anophthalmia.''; Nat Genet, 2003 PubMed Europe PMC Scholia
  57. Machwe A, Xiao L, Orren DK; ''TRF2 recruits the Werner syndrome (WRN) exonuclease for processing of telomeric DNA.''; Oncogene, 2004 PubMed Europe PMC Scholia
  58. Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP; ''TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.''; Am J Hum Genet, 2008 PubMed Europe PMC Scholia
  59. Chen X, Wang X, Liu W, Ren Y, Qu X, Li J, Yin X, Xu Y; ''Structures of +1 nucleosome-bound PIC-Mediator complex.''; Science, 2022 PubMed Europe PMC Scholia
  60. Binder MS, Escobar I, Xu Y, Sokolov AM, Zhang L, Bordey A; ''Reducing Filamin A Restores Cortical Synaptic Connectivity and Early Social Communication Following Cellular Mosaicism in Autism Spectrum Disorder Pathways.''; J Neurosci, 2024 PubMed Europe PMC Scholia
  61. Le Guezennec X, Vermeulen M, Brinkman AB, Hoeijmakers WA, Cohen A, Lasonder E, Stunnenberg HG; ''MBD2/NuRD and MBD3/NuRD, two distinct complexes with different biochemical and functional properties.''; Mol Cell Biol, 2006 PubMed Europe PMC Scholia
  62. Brackertz M, Boeke J, Zhang R, Renkawitz R; ''Two highly related p66 proteins comprise a new family of potent transcriptional repressors interacting with MBD2 and MBD3.''; J Biol Chem, 2002 PubMed Europe PMC Scholia
  63. Das C, Roy S, Namjoshi S, Malarkey CS, Jones DN, Kutateladze TG, Churchill ME, Tyler JK; ''Binding of the histone chaperone ASF1 to the CBP bromodomain promotes histone acetylation.''; Proc Natl Acad Sci U S A, 2014 PubMed Europe PMC Scholia
  64. Chen S, Rufiange A, Huang H, Rajashankar KR, Nourani A, Patel DJ; ''Structure-function studies of histone H3/H4 tetramer maintenance during transcription by chaperone Spt2.''; Genes Dev, 2015 PubMed Europe PMC Scholia
  65. Bina R, Matalon D, Fregeau B, Tarsitano JJ, Aukrust I, Houge G, Bend R, Warren H, Stevenson RE, Stuurman KE, Barkovich AJ, Sherr EH; ''De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities.''; J Med Genet, 2020 PubMed Europe PMC Scholia
  66. Scheidecker S, Etard C, Haren L, Stoetzel C, Hull S, Arno G, Plagnol V, Drunat S, Passemard S, Toutain A, Obringer C, Koob M, Geoffroy V, Marion V, Strähle U, Ostergaard P, Verloes A, Merdes A, Moore AT, Dollfus H; ''Mutations in TUBGCP4 alter microtubule organization viathe γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.''; Am J Hum Genet, 2015 PubMed Europe PMC Scholia
  67. Stewart GS, Panier S, Townsend K, Al-Hakim AK, Kolas NK, Miller ES, Nakada S, Ylanko J, Olivarius S, Mendez M, Oldreive C, Wildenhain J, Tagliaferro A, Pelletier L, Taubenheim N, Durandy A, Byrd PJ, Stankovic T, Taylor AM, Durocher D; ''The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage.''; Cell, 2009 PubMed Europe PMC Scholia
  68. Olley G, Ansari M, Bengani H, Grimes GR, Rhodes J, von Kriegsheim A, Blatnik A, Stewart FJ, Wakeling E, Carroll N, Ross A, Park SM, Bickmore WA, Pradeepa MM, FitzPatrick DR; ''BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome.''; Nat Genet, 2018 PubMed Europe PMC Scholia
  69. Ganapathi M, Padgett LR, Yamada K, Devinsky O, Willaert R, Person R, Au PB, Tagoe J, McDonald M, Karlowicz D, Wolf B, Lee J, Shen Y, Okur V, Deng L, LeDuc CA, Wang J, Hanner A, Mirmira RG, Park MH, Mastracci TL, Chung WK; ''Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.''; Am J Hum Genet, 2019 PubMed Europe PMC Scholia
  70. Ali-Ahmad A, Bilokapić S, Schäfer IB, Halić M, Sekulić N; ''CENP-C unwraps the human CENP-A nucleosome through the H2A C-terminal tail.''; EMBO Rep, 2019 PubMed Europe PMC Scholia
  71. Ristic D, Wyman C, Paulusma C, Kanaar R; ''The architecture of the human Rad54-DNA complex provides evidence for protein translocation along DNA.''; Proc Natl Acad Sci U S A, 2001 PubMed Europe PMC Scholia
  72. Chen M, Quan Y, Duan G, Wu H, Bai T, Wang Y, Zhou S, Ou J, Shen Y, Hu Z, Xia K, Guo H; ''Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders.''; Eur J Med Genet, 2021 PubMed Europe PMC Scholia
  73. Silljé HH, Nigg EA; ''Identification of human Asf1 chromatin assembly factors as substrates of Tousled-like kinases.''; Curr Biol, 2001 PubMed Europe PMC Scholia
  74. Maruyama M, Ichisaka T, Nakagawa M, Yamanaka S; ''Differential roles for Sox15 and Sox2 in transcriptional control in mouse embryonic stem cells.''; J Biol Chem, 2005 PubMed Europe PMC Scholia
  75. Wang Y, Guo YR, Liu K, Yin Z, Liu R, Xia Y, Tan L, Yang P, Lee JH, Li XJ, Hawke D, Zheng Y, Qian X, Lyu J, He J, Xing D, Tao YJ, Lu Z; ''KAT2A coupled with the α-KGDH complex acts as a histone H3 succinyltransferase.''; Nature, 2017 PubMed Europe PMC Scholia
  76. Goodfellow SJ, Zomerdijk JC; ''Basic mechanisms in RNA polymerase I transcription of the ribosomal RNA genes.''; Subcell Biochem, 2013 PubMed Europe PMC Scholia
  77. Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB; ''Redefining the Etiologic Landscape of Cerebellar Malformations.''; Am J Hum Genet, 2019 PubMed Europe PMC Scholia
  78. Machida S, Takaku M, Ikura M, Sun J, Suzuki H, Kobayashi W, Kinomura A, Osakabe A, Tachiwana H, Horikoshi Y, Fukuto A, Matsuda R, Ura K, Tashiro S, Ikura T, Kurumizaka H; ''Nap1 stimulates homologous recombination by RAD51 and RAD54 in higher-ordered chromatin containing histone H1.''; Sci Rep, 2014 PubMed Europe PMC Scholia
  79. Tessadori F, Duran K, Knapp K, Fellner M, Smithson S, Beleza Meireles A, Elting MW, Waisfisz Q, O'Donnell-Luria A, Nowak C, Douglas J, Ronan A, Brunet T, Kotzaeridou U, Svihovec S, Saenz MS, Thiffault I, Del Viso F, Devine P, Rego S, Tenney J, van Haeringen A, Ruivenkamp CAL, Koene S, Robertson SP, Deshpande C, Pfundt R, Verbeek N, van de Kamp JM, Weiss JMM, Ruiz A, Gabau E, Banne E, Pepler A, Bottani A, Laurent S, Guipponi M, Bijlsma E, Bruel AL, Sorlin A, Willis M, Powis Z, Smol T, Vincent-Delorme C, Baralle D, Colin E, Revencu N, Calpena E, Wilkie AOM, Chopra M, Cormier-Daire V, Keren B, Afenjar A, Niceta M, Terracciano A, Specchio N, Tartaglia M, Rio M, Barcia G, Rondeau S, Colson C, Bakkers J, Mace PD, Bicknell LS, van Haaften G; ''Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.''; Am J Hum Genet, 2022 PubMed Europe PMC Scholia
  80. Morozumi Y, Boussouar F, Tan M, Chaikuad A, Jamshidikia M, Colak G, He H, Nie L, Petosa C, de Dieuleveult M, Curtet S, Vitte AL, Rabatel C, Debernardi A, Cosset FL, Verhoeyen E, Emadali A, Schweifer N, Gianni D, Gut M, Guardiola P, Rousseaux S, Gérard M, Knapp S, Zhao Y, Khochbin S; ''Atad2 is a generalist facilitator of chromatin dynamics in embryonic stem cells.''; J Mol Cell Biol, 2016 PubMed Europe PMC Scholia
  81. Koide R, Kobayashi S, Shimohata T, Ikeuchi T, Maruyama M, Saito M, Yamada M, Takahashi H, Tsuji S; ''A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?''; Hum Mol Genet, 1999 PubMed Europe PMC Scholia
  82. Devgan SS, Sanal O, Doil C, Nakamura K, Nahas SA, Pettijohn K, Bartek J, Lukas C, Lukas J, Gatti RA; ''Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia.''; Cell Death Differ, 2011 PubMed Europe PMC Scholia
  83. Zhang T, Wei G, Millard CJ, Fischer R, Konietzny R, Kessler BM, Schwabe JWR, Brockdorff N; ''A variant NuRD complex containing PWWP2A/B excludes MBD2/3 to regulate transcription at active genes.''; Nat Commun, 2018 PubMed Europe PMC Scholia
  84. Tirode F, Busso D, Coin F, Egly JM; ''Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7.''; Mol Cell, 1999 PubMed Europe PMC Scholia
  85. Tsunaka Y, Fujiwara Y, Oyama T, Hirose S, Morikawa K; ''Integrated molecular mechanism directing nucleosome reorganization by human FACT.''; Genes Dev, 2016 PubMed Europe PMC Scholia
  86. Smol T, Thuillier C, Boudry-Labis E, Dieux-Coeslier A, Duban-Bedu B, Caumes R, Bouquillon S, Manouvrier-Hanu S, Roche-Lestienne C, Ghoumid J; ''Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication.''; Neurogenetics, 2020 PubMed Europe PMC Scholia
  87. Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D, Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM; ''De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.''; Am J Hum Genet, 2018 PubMed Europe PMC Scholia
  88. Luscan A, Laurendeau I, Malan V, Francannet C, Odent S, Giuliano F, Lacombe D, Touraine R, Vidaud M, Pasmant E, Cormier-Daire V; ''Mutations in SETD2 cause a novel overgrowth condition.''; J Med Genet, 2014 PubMed Europe PMC Scholia
  89. Zeng L, Zhang Q, Gerona-Navarro G, Moshkina N, Zhou MM; ''Structural basis of site-specific histone recognition by the bromodomains of human coactivators PCAF and CBP/p300.''; Structure, 2008 PubMed Europe PMC Scholia
  90. Marzin P, Rondeau S, Aldinger KA, Alessandri JL, Isidor B, Heron D, Keren B, Dobyns WB, Cormier-Daire V; ''SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.''; Am J Med Genet C Semin Med Genet, 2019 PubMed Europe PMC Scholia
  91. Toro C, Hori RT, Malicdan MCV, Tifft CJ, Goldstein A, Gahl WA, Adams DR, Fauni HB, Wolfe LA, Xiao J, Khan MM, Tian J, Hope KA, Reiter LT, Tremblay MG, Moss T, Franks AL, Balak C, LeDoux MS; ''A recurrent de novo missense mutation in UBTF causes developmental neuroregression.''; Hum Mol Genet, 2018 PubMed Europe PMC Scholia
  92. Dejmek J, Iglehart JD, Lazaro JB; ''DNA-dependent protein kinase (DNA-PK)-dependent cisplatin-induced loss of nucleolar facilitator of chromatin transcription (FACT) and regulation of cisplatin sensitivity by DNA-PK and FACT.''; Mol Cancer Res, 2009 PubMed Europe PMC Scholia
  93. D'Antoni S, Mattina T, Di Mare P, Federico C, Motta S, Saccone S; ''Altered replication timing of the HIRA/Tuple1 locus in the DiGeorge and Velocardiofacial syndromes.''; Gene, 2004 PubMed Europe PMC Scholia
  94. Dodonova SO, Zhu F, Dienemann C, Taipale J, Cramer P; ''Nucleosome-bound SOX2 and SOX11 structures elucidate pioneer factor function.''; Nature, 2020 PubMed Europe PMC Scholia
  95. Fabregat A, Sidiropoulos K, Viteri G, Forner O, Marin-Garcia P, Arnau V, D'Eustachio P, Stein L, Hermjakob H; ''Reactome pathway analysis: a high-performance in-memory approach.''; BMC Bioinformatics, 2017 PubMed Europe PMC Scholia
  96. O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J; ''Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.''; Science, 2012 PubMed Europe PMC Scholia
  97. Ho CH, Takizawa Y, Kobayashi W, Arimura Y, Kimura H, Kurumizaka H; ''Structural basis of nucleosomal histone H4 lysine 20 methylation by SET8 methyltransferase.''; Life Sci Alliance, 2021 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
140307view09:36, 11 August 2025FehrhartModified description
140306view09:35, 11 August 2025FehrhartModified title
140305view09:35, 11 August 2025FehrhartGraphical improvements, nodes to labels
140304view09:29, 11 August 2025FehrhartOntology Term : 'epilepsy' added !
140303view09:29, 11 August 2025FehrhartOntology Term : 'disease pathway' added !
140265view14:55, 8 August 2025DuanModified description
140206view12:08, 6 August 2025DuanUpdated identifier for LOC129996027
139713view10:40, 1 July 2025Jmlohmannincluded pathway identifiers
139628view10:12, 24 June 2025JmlohmannAdjusted RNA-polymerase
139589view14:43, 22 June 2025JmlohmannNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
Epilepsy-or seizure causing genes
Functional element geneGeneProduct
H4C1GeneProductENSG00000278637 (Ensembl)
H4C3GeneProductH4C3 (HGNC)
H4C5GeneProductENSG00000276966 (Ensembl)
Human FACT and DNA double-strand break (repair) PathwayWP5564 (WikiPathways)
LOC129996027GeneProduct129996027 (NCBI Protein)
MED23GeneProductENSG00000112282 (Ensembl)
MED27GeneProductENSG00000160563 (Ensembl)
PathwayPathway
RNA-polymerase I promoter openingPathwayR-HSA-73728 (Reactome)
RNA-polymerase II transcription: the preinitiation complexPathwayWP5563 (WikiPathways)
RNA-polymerase II-driven elongation PathwayR-HSA-75955 (Reactome)
SOX genes and their influence on neurogenesis and neurodevelopmental disordersPathwayWP5568 (WikiPathways)
TAF13GeneProductENSG00000197780 (Ensembl)
TAF2GeneProductENSG00000064313 (Ensembl)
TAF8GeneProductENSG00000137413 (Ensembl)
TBPGeneProductENSG00000112592 (Ensembl)
Telomere end packaging and neurodevelopmental disordersPathwayWP5567 (WikiPathways)
Telomere end packagingPathwayR-HSA-171306 (Reactome)
Tessadori-Bicknell-van Haaften syndrome variants: nucleosome assemblyPathwayWP5573 (WikiPathways)
The nucleosome remodelling complexPathwayWP5572 (WikiPathways)
Transcription
Transcription activation (RNA-polymerase I and KAT2A/B) and inhibition (NuRD complex) PathwayWP5565 (WikiPathways)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5575"
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