Beyin Gelişimini Etkileyen Genetik ve Epigenetik Faktörler

Andreu-Cervera, A., Catala, M., & Schneider-Maunoury, S. (2021). Cilia, ciliopathies and hedgehog-related forebrain developmental disorders. Neurobiology of Diseases, 150:105236. doi: 10.1016/j.nbd.2020.105236

Barbosa, M., Joshi, R.S., Garg, P., Martin-Trujillo, A., Patel, N., Jadhav, B., Watson, C.T.,et al. (2018). Identification of rare de novo epigenetic variations in congenital disorders. Nature Communications, 9(1),2064. doi: 10.1038/s41467-018-04540-x.

Bjornsson, H.T. (2007). The Mendelian disorders of the epigenetic machinery. Genome Research, 25(10),1473-1481. doi: 10.1101/gr.190629.115

Breiling, A., & Lyko, F. (2015). Epigenetic regulatory functions of DNA modifications: 5-methylcytosine and beyond. Epigenetics Chromatin, 8:24. doi: 10.1186/s13072-015-0016-6

Crider, K.S., Yang, T.P., Berry, R.J., Bailey, L.B. (2012). Folate and DNA methylation: a review of molecular mechanisms and the evidence for folate's role. Advances in Nutrition, 3(1),21-38. doi: 10.3945/an.111.000992

Fahrner, J.A., & Bjornsson, H.T. (2014). Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states. Annual Review of Genomics and Human Genetics, 15,269-93. doi: 10.1146/annurev-genom-090613-094245

Garg, P., & Sharp, A.J. (2019). Screening for rare epigenetic variations in autism and schizophrenia. Human Mutation, 40(7),952-961. doi: 10.1002/humu.23740.

Garg, P., Jadhav, B., Rodriguez, O.L., Patel, N., Martin-Trujillo, A., Jain, M., Metsu, S., et al. (2020). A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions. American Journal of Human Genetics, 107(4), 654-669. doi: 10.1016/j.ajhg.2020.08.019.

Goldberg, A.D., Allis, C.D., & Bernstein, E. (2007). Epigenetics: a landscape takes shape. Cell, 128(4),635-638. doi: 10.1016/j.cell.2007.02.006

Karalis, V., Donovan, K.E., & Sahin, M. (2022). Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies. Journal of Developmental Biology, 10(4):54. doi: 10.3390/jdb10040054

Keverne, E.B., Pfaff, D.W., & Tabansky, I. (2015). Epigenetic changes in the developing brain: Effects on behavior. The Proceedings of the National Academy of Sciences U S A, 112(22),6789-95. doi: 10.1073/pnas.1501482112.

Krebs, J.E., Goldstein, E.S., & Kilpatrick, S.T. (2017) (Eds), In Lewin’s Genes XII (12th ed., pp.731-748) Jones and Bartlett Publishers. Inc.

Lister, R., Mukamel, E.A., Nery, J.R., Urich, M., Puddifoot, C.A., Johnson, N.D., Lucero, J., et al. (2013). Global epigenomic reconfiguration during mammalian brain development. Science, 341(6146):1237905. doi: 10.1126/science.1237905

MacDonald, J.L., Tharin, S., & Hall, S.E. (2022). Epigenetic regulation of nervous system development and function. Neurochemisty International, 152:105249. doi: 10.1016/j.neuint.2021.105249

Niewiadomski, P., Niedziółka, S.M., Markiewicz, Ł., Uśpieński, T., Baran, B., Chojnowska, K. (2019). Gli Proteins: Regulation in Development and Cancer. Cells, 8(2):147. doi: 10.3390/cells8020147

Nussbaum, R.L., McInnes, R.R., ve Willard, H.F. (2016) (Eds.), In Thompson & Thompson genetics in medicine (8th ed., pp.3-42, 301-303) Elsevier Health Sciences.

Park, S.M., Jang, H.J., & Lee, J.H. (2019). Roles of Primary Cilia in the Developing Brain. Frontiers in Cellular Neuroscience. 13:218. doi: 10.3389/fncel.2019.00218

Pasca di Magliano, M., & Hebrok, M. (2003). Hedgehog signalling in cancer formation and maintenance. Nature Reviews Cancer, 3(12):903-11. doi: 10.1038/nrc1229.

Robertson, K.D. (2005). DNA methylation and human disease. Nature Reviews Genetics. 6(8),597-610. doi: 10.1038/nrg1655.

Rodenhiser, D., & Mann, M. (2006). Epigenetics and human disease: translating basic biology into clinical applications. Canadian Medical Association Journal, 174(3), 341-348. doi: 10.1503/cmaj.050774

Savatt, J.M., & Myers, S.M. (2021). Genetic Testing in Neurodevelopmental Disorders. Frontiers in Pediatrics, 9:526779. doi: 10.3389/fped.2021.526779

Turnpenny, P., Ellard, S., & Cleaver R. (2022) (Eds), In Emery’s Elements of Medical Genetics, e-book (16th ed., pp. 54-99, 100-195, 376-460) Elsevier.

Wiśniowiecka-Kowalnik, B., & Nowakowska, B.A. (2019). Genetics and epigenetics of autism spectrum disorder-current evidence in the field. Journal of Applied Genetics, 60(1):37-47. doi: 10.1007/s13353-018-00480-w

Yasuda, Y., Matsumoto, J., Miura, K., Hasegawa, N., Hashimoto, R. (2023). Genetics of autism spectrum disorders and future direction. Journal of Human Genetics, 68(3):193-197. doi: 10.1038/s10038-022-01076-3

Andreu-Cervera, A., Catala, M., & Schneider-Maunoury, S. (2021). Cilia, ciliopathies and hedgehog-related forebrain developmental disorders. Neurobiology of Diseases, 150:105236. doi: 10.1016/j.nbd.2020.105236

Barbosa, M., Joshi, R.S., Garg, P., Martin-Trujillo, A., Patel, N., Jadhav, B., Watson, C.T.,et al. (2018). Identification of rare de novo epigenetic variations in congenital disorders. Nature Communications, 9(1),2064. doi: 10.1038/s41467-018-04540-x.

Bjornsson, H.T. (2007). The Mendelian disorders of the epigenetic machinery. Genome Research, 25(10),1473-1481. doi: 10.1101/gr.190629.115

Breiling, A., & Lyko, F. (2015). Epigenetic regulatory functions of DNA modifications: 5-methylcytosine and beyond. Epigenetics Chromatin, 8:24. doi: 10.1186/s13072-015-0016-6

Crider, K.S., Yang, T.P., Berry, R.J., Bailey, L.B. (2012). Folate and DNA methylation: a review of molecular mechanisms and the evidence for folate's role. Advances in Nutrition, 3(1),21-38. doi: 10.3945/an.111.000992

Fahrner, J.A., & Bjornsson, H.T. (2014). Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states. Annual Review of Genomics and Human Genetics, 15,269-93. doi: 10.1146/annurev-genom-090613-094245

Garg, P., & Sharp, A.J. (2019). Screening for rare epigenetic variations in autism and schizophrenia. Human Mutation, 40(7),952-961. doi: 10.1002/humu.23740.

Garg, P., Jadhav, B., Rodriguez, O.L., Patel, N., Martin-Trujillo, A., Jain, M., Metsu, S., et al. (2020). A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions. American Journal of Human Genetics, 107(4), 654-669. doi: 10.1016/j.ajhg.2020.08.019.

Goldberg, A.D., Allis, C.D., & Bernstein, E. (2007). Epigenetics: a landscape takes shape. Cell, 128(4),635-638. doi: 10.1016/j.cell.2007.02.006

Karalis, V., Donovan, K.E., & Sahin, M. (2022). Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies. Journal of Developmental Biology, 10(4):54. doi: 10.3390/jdb10040054

Keverne, E.B., Pfaff, D.W., & Tabansky, I. (2015). Epigenetic changes in the developing brain: Effects on behavior. The Proceedings of the National Academy of Sciences U S A, 112(22),6789-95. doi: 10.1073/pnas.1501482112.

Krebs, J.E., Goldstein, E.S., & Kilpatrick, S.T. (2017) (Eds), In Lewin’s Genes XII (12th ed., pp.731-748) Jones and Bartlett Publishers. Inc.

Lister, R., Mukamel, E.A., Nery, J.R., Urich, M., Puddifoot, C.A., Johnson, N.D., Lucero, J., et al. (2013). Global epigenomic reconfiguration during mammalian brain development. Science, 341(6146):1237905. doi: 10.1126/science.1237905

MacDonald, J.L., Tharin, S., & Hall, S.E. (2022). Epigenetic regulation of nervous system development and function. Neurochemisty International, 152:105249. doi: 10.1016/j.neuint.2021.105249

Niewiadomski, P., Niedziółka, S.M., Markiewicz, Ł., Uśpieński, T., Baran, B., Chojnowska, K. (2019). Gli Proteins: Regulation in Development and Cancer. Cells, 8(2):147. doi: 10.3390/cells8020147

Nussbaum, R.L., McInnes, R.R., ve Willard, H.F. (2016) (Eds.), In Thompson & Thompson genetics in medicine (8th ed., pp.3-42, 301-303) Elsevier Health Sciences.

Park, S.M., Jang, H.J., & Lee, J.H. (2019). Roles of Primary Cilia in the Developing Brain. Frontiers in Cellular Neuroscience. 13:218. doi: 10.3389/fncel.2019.00218

Pasca di Magliano, M., & Hebrok, M. (2003). Hedgehog signalling in cancer formation and maintenance. Nature Reviews Cancer, 3(12):903-11. doi: 10.1038/nrc1229.

Robertson, K.D. (2005). DNA methylation and human disease. Nature Reviews Genetics. 6(8),597-610. doi: 10.1038/nrg1655.

Rodenhiser, D., & Mann, M. (2006). Epigenetics and human disease: translating basic biology into clinical applications. Canadian Medical Association Journal, 174(3), 341-348. doi: 10.1503/cmaj.050774

Savatt, J.M., & Myers, S.M. (2021). Genetic Testing in Neurodevelopmental Disorders. Frontiers in Pediatrics, 9:526779. doi: 10.3389/fped.2021.526779

Turnpenny, P., Ellard, S., & Cleaver R. (2022) (Eds), In Emery’s Elements of Medical Genetics, e-book (16th ed., pp. 54-99, 100-195, 376-460) Elsevier.

Wiśniowiecka-Kowalnik, B., & Nowakowska, B.A. (2019). Genetics and epigenetics of autism spectrum disorder-current evidence in the field. Journal of Applied Genetics, 60(1):37-47. doi: 10.1007/s13353-018-00480-w

Yasuda, Y., Matsumoto, J., Miura, K., Hasegawa, N., Hashimoto, R. (2023). Genetics of autism spectrum disorders and future direction. Journal of Human Genetics, 68(3):193-197. doi: 10.1038/s10038-022-01076-3