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1Academic Journal
Συγγραφείς: T. V. Kozhanova, S. S. Zhilina, T. I. Meshheryakova, E. G. Lukyanova, K. V. Osipova, S. O. Ayvazyan, N. N. Zavadenko, A. G. Prityko, Т. В. Кожанова, С. С. Жилина, Т. И. Мещерякова, Е. Г. Лукьянова, К. В. Осипова, С. О. Айвазян, Н. Н. Заваденко, А. Г. Притыко
Πηγή: Medical Genetics; Том 19, № 11 (2020); 47-53 ; Медицинская генетика; Том 19, № 11 (2020); 47-53 ; 2073-7998
Θεματικοί όροι: расстройства аутистического спектра, epileptic encephalopathy, targeted exome sequencing, autism spectrum disorder, эпилептическая энцефалопатия, таргетное экзомное секвенирование
Περιγραφή αρχείου: application/pdf
Relation: https://www.medgen-journal.ru/jour/article/view/1795/1428; Российское общество психиатров. Расстройство аутистического спектра: диагностика, лечение, наблюдение. Клинические рекомендации (протокол лечения) - 2015. - 50 c. http//www: psychiatry.ru; Chaste P., Leboyer M. Autism risk factors: genes, environment, and gene-environment interactions. Dialogues Clin Neurosci. 2012;14(3):281-292.; Liao H.M., Gau S.S., Tsai W.C., Fang JS., Su Y.C., Chou M.C., Liu S.K., Chou W.J., Wu Y.Y., Chen C.H. Chromosomal abnormalities in patients with autism spectrum disorders from Taiwan. Am J Med Genet B Neuropsychiatr Genet. 2013;162B(7):734-741.; Berg J.M., Geschwind D.H. Autism genetics: searching for specificity and convergence. Genome Biol. 2012;13:247.; Iossifov I., O’Roak B.J., Sanders S.J. et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014;525 (7526):216-221.; Helsmoortel C., Vulto-van Silfhout A.T., Coe B.P., et al. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet. 2014;46:380e4.; Krajewska-Walasek M., Jurkiewicz D., PiekutowskaAbramczuk D., et al. Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene. Am J Med Genet A. 2016;170:1647e50.; Coe B.P., Witherspoon K., Rosenfeld J.A., et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet. 2014;46:1063e71.; De Rubeis S., He X., Goldberg A.P., et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014;515:209e15.; Pescosolido M.F., Schwede M., Johnson Harrison A., et al. Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein. J Med Genet. 2014;51:587e9.; Vandeweyer G., Helsmoortel C., Van Dijck A., et al. The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. Am J Med Genet C. 2014;166:315e26.; Pascolini G., Agolini E., Majore S., Novelli A., Grammatico P., Digilio M.C. Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement. Eur J Paediatr Neurol. 2018 May;22(3):552-557.; Zamostiano R., Pinhasov A., Gelber E., et al. Cloning and characterization of the human activity-dependent neuroprotective protein. J Biol Chem. 2001;276:708e14.; Magen I., Gozes I. Davunetide: peptide therapeutic in neurological disorders. Curr Med Chem. 2014;21:2591e8.; Pinhasov A., Mandel S., Torchinsky A. et al. Activity-dependent neuroprotective protein: a novel gene essential for brain formation. Brain Res Dev Brain Res. 2003;144:83e90.; Takenouchi T., Miwa T., Sakamoto Y., Sakaguchi Y., Uehara T., Takahashi T., et al. Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene. Am J Med Genet A. 2017;173:1631e4.; Verloes A., Bremond-Gignac D., Isidor B., et al. Blepharophimosis-mental retardation (BMR) syndromes: a proposed clinical classification of the so-called Ohdo syndrome, a delineation of two new BMR syndromes, one xlinked and one autosomal recessive. Am J Med Genet. 2006;140:1285e96.; Clayton-Smith J., O’Sullivan J., Daly S., et al. Whole-exomesequencing identifies mutation in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am J Hum Genet. 2011;89:675e81.; Vulto-van Silfhout A.T., De Vries B.B.A., van Bon B.W.M., et al. Mutations in MED12 cause X-linked Ohdo syndrome. Am J Hum Genet. 2013;92:401e6.
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2Academic Journal
Συγγραφείς: T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, N. P. Prokop`eva, K. V. Osipova, S. O. Aivazyan, I. V. Kanivets, F. A. Konovalov, E. R. Tolmacheva, F. A. Koshkin, A. G. Prityko, Т. В. Кожанова, С. С. Жилина, Т. И. Мещерякова, Н. П. Прокопьева, К. В. Осипова, С. О. Айвазян, И. В. Канивец, Ф. А. Коновалов, Е. Р. Толмачева, Ф. А. Кошкин, А. Г. Притыко
Πηγή: Medical Genetics; Том 16, № 11 (2017); 42-45 ; Медицинская генетика; Том 16, № 11 (2017); 42-45 ; 2073-7998
Θεματικοί όροι: targeted sequencing, X-сцепленная умственная отсталость, задержка психомоторного развития, нарушение речи, эпилепсия, таргетное экзомное секвенирование, KIAA2022 gene, X-linked intellectual disability, psychomotor development delay, speech disorder, epilepsy
Περιγραφή αρχείου: application/pdf
Relation: https://www.medgen-journal.ru/jour/article/view/347/263; Ropers H.H. and Hamel B.C. X-linked mental retardation. Nat. Rev.Genet. 2005;6:46-57.; Vandeweyer G. and Kooy R.F. Balanced translocations in mental retardation. Hum. Genet. 2009;126:133-147.; Koolen D.A., Pfundt R., de Leeuw N. et al. Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum. Mutat.2009;30:283-292.; Hu H., Wrogemann K., Kalscheuer V. et al. Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. Hugo J.2009;3:41-49.; Cantagrel V., Lossi A., Boulanger S. et al. Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. J Med Genet.2004;41:736-742.; Van Maldergem L., Hou Q., Kalscheuer V. et al. Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. Hum Mol Genet.2013;22:3306-3314.; Kuroda Y., Ohashi I., Naruto T. et al. Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features. Am J Med Genet Part A. 2015;167A:1349-1353.; Soden S., Saunders C., Willig L. et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med. 2014;6:265ra168.; Charzewska A., Rzonca S., Janeczko M. et al. A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism. Clin Genet. 2015;88:297-299.; Magome T., Hattori T., Taniguchi M. et al. XLMR protein related to neurite extension (Xpn/KIAA2022) regulates cell-cell and cell-matrix adhesion and migration. Neurochem Int. 2013;63:561-569.; Moysеs-Oliveira M, Guilherme RS, Meloni VA et al. X-linked intellectual disability related genes disrupted by balanced X-autosome translocations. Am J Med Genet Part B Neuropsychiatr Genet. 2015;168:669-677.; Athanasakis E, Licastro D, Faletra F. et al. Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection. Am J Med Genet Part A. 2014;164:170-176.; Farach LS, Northrup H. KIAA2022 nonsense mutation in a symptomatic female. Am J Med Genet Part A. 2016;170:703-706.; Lange I, Helbig K, Weckhuysen S. et al. De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy. J Med Genet. 2016;0:1-9.; Dobyns WB. The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked. Acta Paediatrica.2006;95:11-15.; Dobyns WB, Filauro A, Tomson BN. et al. Inheritance of most X-linked traits is not dominant or recessive, just X-linked. Am J Med Genet Part A.2004;129:136-143.; Van den Veyver IB. Skewed X inactivation in X-linked disorders. Semin Reproductive Med.2001;19:183-191.; Cantagrel V, Haddad M-R, Ciofi P. et al. Villard L. Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation. Gene Expr Patterns.2009;9:423-429.
Διαθεσιμότητα: https://www.medgen-journal.ru/jour/article/view/347
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3Academic Journal
Συγγραφείς: Kozhanova, Tatiana, Zhilina, Svetlana, Mescheryakova, Tatiana, Ananieva, Tatiana, Luk`yanova, Evgeniya, Prokop`eva, Natalia, Osipova, Karine, Aivazyan, Sergrei, Kanivets, Ilia, Konovalov, Fyodor, Tolmacheva, Ekaterina, Prityko, Andrei, Bruhanova, Natalia
Πηγή: JOURNAL OF BIOINFORMATICS AND GENOMICS; No. 2 (4) (2017) ; ЖУРНАЛ БИОИНФОРМАТИКИ И ГЕНОМИКИ; № 2 (4) (2017) ; 2530-1381
Θεματικοί όροι: genetic disorders, epileptic encephalopathy, targeted exome sequencing, генетические синдромы, эпилептическая энцефалопатия, таргетное экзомное секвенирование
Περιγραφή αρχείου: application/pdf
Relation: https://journal-biogen.org/index.php/jbg/article/view/21/81; https://journal-biogen.org/index.php/jbg/article/view/21