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<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">surgonco</journal-id><journal-title-group><journal-title xml:lang="ru">Креативная хирургия и онкология</journal-title><trans-title-group xml:lang="en"><trans-title>Creative surgery and oncology</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2076-3093</issn><issn pub-type="epub">2307-0501</issn><publisher><publisher-name>Башкирский государственный медицинский университет</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.24060/2076-3093-2012-0-1-98-102</article-id><article-id custom-type="elpub" pub-id-type="custom">surgonco-77</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ОБЗОР ЛИТЕРАТУРЫ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>REVIEWS</subject></subj-group></article-categories><title-group><article-title>КОМПЛЕКСНЫЙ ПОДХОД В ИЗУЧЕНИИ ОСОБЕННОСТЕЙ НЕЙРОФИБРОМАТОЗА 1 ТИПА</article-title><trans-title-group xml:lang="en"><trans-title>A COMPREHENSIVE APPROACH TO THE STUDY OF PECULIAR PROPERTIES OF NEUROFIBROMATOSIS TYPE 1</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Мустафин</surname><given-names>Р. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Mustafin</surname><given-names>R. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Мустафин Рустам Наилевич - заочный аспирант лаборатории молекулярной генетики человека.</p><p>450054, Республика Башкортостан, Уфа, пр. Октября, д. 71, тел. 8 (347) 235-60-88, e-mail: 021gen@mail.ru</p></bio><email xlink:type="simple">021gen@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Бермишева</surname><given-names>М. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Bermisheva</surname><given-names>M. A.</given-names></name></name-alternatives><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Хуснутдинова</surname><given-names>Э. К.</given-names></name><name name-style="western" xml:lang="en"><surname>Khusnutdinova</surname><given-names>E. K.</given-names></name></name-alternatives><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Институт биохимии и генетики, Уфимский научный центр Российской академии наук</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Institute of Biochemistry and Genetics, Ufa Research Center</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2012</year></pub-date><pub-date pub-type="epub"><day>26</day><month>01</month><year>2017</year></pub-date><volume>0</volume><issue>1</issue><fpage>98</fpage><lpage>102</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Мустафин Р.Н., Бермишева М.А., Хуснутдинова Э.К., 2017</copyright-statement><copyright-year>2017</copyright-year><copyright-holder xml:lang="ru">Мустафин Р.Н., Бермишева М.А., Хуснутдинова Э.К.</copyright-holder><copyright-holder xml:lang="en">Mustafin R.N., Bermisheva M.A., Khusnutdinova E.K.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.surgonco.ru/jour/article/view/77">https://www.surgonco.ru/jour/article/view/77</self-uri><abstract><p>В обзоре литературы представлен анализ данных отечественных и зарубежных исследователей по изучению нейрофиброматоза 1  типа. Приведены основные особенности патогенеза, клиники и генетических основ заболевания. Обобщены современные данные о диагностике и лечении данной патологии.</p></abstract><trans-abstract xml:lang="en"><p>Having made a literature review, the writers of the article analyze the data of native and foreign researchers on the study of neurofibromatosis type 1. They also provide the main features of pathogenesis, clinical and genetic basis of the disease, and integrate recent data on diagnosis and treatment of this disease.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>нейрофиброматоз 1 типа</kwd><kwd>нейрофибромин</kwd><kwd>ген</kwd><kwd>тучные клетки</kwd></kwd-group><kwd-group xml:lang="en"><kwd>neurofibromatosis type 1</kwd><kwd>neurofibromin</kwd><kwd>gene</kwd><kwd>mast cells</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Горбунова В.Н., Имянитов Е.Н., Ледащева Т.А. Молекулярная неврология. Часть III // Опухоли головного мозга, онкогены и антионкогены. – СПб.: «Интермедика», 2004. – С. 219-232.</mixed-citation><mixed-citation xml:lang="en">Горбунова В.Н., Имянитов Е.Н., Ледащева Т.А. Молекулярная неврология. Часть III // Опухоли головного мозга, онкогены и антионкогены. – СПб.: «Интермедика», 2004. – С. 219-232.</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Дрозд О.В., Бабенко О.В., Семячкина А.Н. и др. Разработка подходов к ДНК-диагностике нейрофиброматоза 1-го типа в России // Медицинская генетика. – 2005. – Т. 4. – №7. – С. 322-326.</mixed-citation><mixed-citation xml:lang="en">Дрозд О.В., Бабенко О.В., Семячкина А.Н. и др. Разработка подходов к ДНК-диагностике нейрофиброматоза 1-го типа в России // Медицинская генетика. – 2005. – Т. 4. – №7. – С. 322-326.</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Макурдумян Л.А. Нейрофиброматоз I типа. Проблемы диагностики и лечения // Лечащий врач. – 2001. – №10. – С. 59-61.</mixed-citation><mixed-citation xml:lang="en">Макурдумян Л.А. Нейрофиброматоз I типа. Проблемы диагностики и лечения // Лечащий врач. – 2001. – №10. – С. 59-61.</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Шнайдер Н.А. Нейрофиброматоз 1-го типа: этиопатогенез, клиника, диагностика, прогноз // Международный неврологический журнал. – 2007. – №5. – С. 24-28.</mixed-citation><mixed-citation xml:lang="en">Шнайдер Н.А. Нейрофиброматоз 1-го типа: этиопатогенез, клиника, диагностика, прогноз // Международный неврологический журнал. – 2007. – №5. – С. 24-28.</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Banerjee S., Byrd J.N., Gianino S.M. et al. The neurofibromatosis type 1 tumor suppressor controls cell growth by regulating signal transducer and activator of transcription-3 activity in vitro and in vivo // Cancer Res. – 2010. – №70(4). – Р. 1356-1366.</mixed-citation><mixed-citation xml:lang="en">Banerjee S., Byrd J.N., Gianino S.M. et al. The neurofibromatosis type 1 tumor suppressor controls cell growth by regulating signal transducer and activator of transcription-3 activity in vitro and in vivo // Cancer Res. – 2010. – №70(4). – Р. 1356-1366.</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Bottillo I., Luca A., Schirinzi A. et al. Functional analysis of splicing mutations in exon 7 of NF1 gene // BMC Medical Genetics. – 2007. – №8. – P. 4-13.</mixed-citation><mixed-citation xml:lang="en">Bottillo I., Luca A., Schirinzi A. et al. Functional analysis of splicing mutations in exon 7 of NF1 gene // BMC Medical Genetics. – 2007. – №8. – P. 4-13.</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Cunha K.G., Barboza E.P., Fonseca E.C. Identification of growth hormone receptor in localised neurofibromas of patients with neurofibromatosis type 1 // J. Clin. Pathol. – 2003. – Vol. 56. – P. 758-763.</mixed-citation><mixed-citation xml:lang="en">Cunha K.G., Barboza E.P., Fonseca E.C. Identification of growth hormone receptor in localised neurofibromas of patients with neurofibromatosis type 1 // J. Clin. Pathol. – 2003. – Vol. 56. – P. 758-763.</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">Donarum E.A., Halperin R.F., Stephan D.A. Cognitive dysfunction in NF1 knock-out mice may result from altered vesicular trafficking of APP/DRD3 complex // BMC Neurosci. – 2006. – №7. – P. 22-33.</mixed-citation><mixed-citation xml:lang="en">Donarum E.A., Halperin R.F., Stephan D.A. Cognitive dysfunction in NF1 knock-out mice may result from altered vesicular trafficking of APP/DRD3 complex // BMC Neurosci. – 2006. – №7. – P. 22-33.</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">Ebinger M., Senf L., Wachowski O. et al. No aberrant methylation of neurofibromatosis 1 gene (NF1) promoter in pilocytic astrocytoma in childhood // Pediatric Hematology and Oncology. – 2005. – Vol. 22. - №1. – P. 83–87.</mixed-citation><mixed-citation xml:lang="en">Ebinger M., Senf L., Wachowski O. et al. No aberrant methylation of neurofibromatosis 1 gene (NF1) promoter in pilocytic astrocytoma in childhood // Pediatric Hematology and Oncology. – 2005. – Vol. 22. - №1. – P. 83–87.</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">Feng-Chun Y., Ingram D.A., Chen S. et al. Neurofibromin-deficient Schwann cells secrete a potent migratory stimulus for NF1+/mast cells // J. Clin. Invest. – 2003. – Vol. 112. №12. – P. 1851-1861.</mixed-citation><mixed-citation xml:lang="en">Feng-Chun Y., Ingram D.A., Chen S. et al. Neurofibromin-deficient Schwann cells secrete a potent migratory stimulus for NF1+/mast cells // J. Clin. Invest. – 2003. – Vol. 112. №12. – P. 1851-1861.</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">Geller M., Ribeiro M.G. Serum IgE levels in neurofibromatosis 1 // Int. J. Immunogenet. – 2006. – Vol. 33. – №2. – P. 111-115.</mixed-citation><mixed-citation xml:lang="en">Geller M., Ribeiro M.G. Serum IgE levels in neurofibromatosis 1 // Int. J. Immunogenet. – 2006. – Vol. 33. – №2. – P. 111-115.</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">Hawes J.J., Tuskan R.G., Reilly K.M. Nf1 expression is dependent on strain background: implications for tumor suppressor haploinsufficiency studies. // Neurogenetics. – 2007. – №10. – P. 1007-1019.</mixed-citation><mixed-citation xml:lang="en">Hawes J.J., Tuskan R.G., Reilly K.M. Nf1 expression is dependent on strain background: implications for tumor suppressor haploinsufficiency studies. // Neurogenetics. – 2007. – №10. – P. 1007-1019.</mixed-citation></citation-alternatives></ref><ref id="cit13"><label>13</label><citation-alternatives><mixed-citation xml:lang="ru">Hiatt K., Ingram D., Huddlesto H. et al. Loss of the NF1 tumor suppressor gene decreases fas antigen expression in myeloid cells // American Journal of Pathology. – 2004. – Vol. 164. – №4. – P. 1471-1479.</mixed-citation><mixed-citation xml:lang="en">Hiatt K., Ingram D., Huddlesto H. et al. Loss of the NF1 tumor suppressor gene decreases fas antigen expression in myeloid cells // American Journal of Pathology. – 2004. – Vol. 164. – №4. – P. 1471-1479.</mixed-citation></citation-alternatives></ref><ref id="cit14"><label>14</label><citation-alternatives><mixed-citation xml:lang="ru">Johannessen C.M., Reczek E.E., James M.F. The NF1 tumor suppressor critically regulates TSC2 and mTOR // Proc. Natl. Acad. Sci. USA. – 2005. – Vol. 102. – №24. – P. 8573-8578.</mixed-citation><mixed-citation xml:lang="en">Johannessen C.M., Reczek E.E., James M.F. The NF1 tumor suppressor critically regulates TSC2 and mTOR // Proc. Natl. Acad. Sci. USA. – 2005. – Vol. 102. – №24. – P. 8573-8578.</mixed-citation></citation-alternatives></ref><ref id="cit15"><label>15</label><citation-alternatives><mixed-citation xml:lang="ru">Kaufmann D., Muller R., Bartelt B. et al. Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene // Am. J. Hum. Genet. – 2001. – Vol. 69. – №6. – P. 1395-1400.</mixed-citation><mixed-citation xml:lang="en">Kaufmann D., Muller R., Bartelt B. et al. Spinal neurofibromatosis without cafe-au-lait macules in two families with null mutations of the NF1 gene // Am. J. Hum. Genet. – 2001. – Vol. 69. – №6. – P. 1395-1400.</mixed-citation></citation-alternatives></ref><ref id="cit16"><label>16</label><citation-alternatives><mixed-citation xml:lang="ru">Kilic S., Tezcan I., Sanal O., Ersoy F. Common variable immunodeficiency in a patient with neurofibromatosis. // Pediatrics International. – 2001. – Vol. 43. – P. 691-693.</mixed-citation><mixed-citation xml:lang="en">Kilic S., Tezcan I., Sanal O., Ersoy F. Common variable immunodeficiency in a patient with neurofibromatosis. // Pediatrics International. – 2001. – Vol. 43. – P. 691-693.</mixed-citation></citation-alternatives></ref><ref id="cit17"><label>17</label><citation-alternatives><mixed-citation xml:lang="ru">Kluwe L., Siebert R., Gesk S. et al. Screening 500 unselected eurofibromatosis 1 patients for deletions of the NF1 gene // Human Mutation. – 2004. – Vol. 23. – №2. – P. 111-116.</mixed-citation><mixed-citation xml:lang="en">Kluwe L., Siebert R., Gesk S. et al. Screening 500 unselected eurofibromatosis 1 patients for deletions of the NF1 gene // Human Mutation. – 2004. – Vol. 23. – №2. – P. 111-116.</mixed-citation></citation-alternatives></ref><ref id="cit18"><label>18</label><citation-alternatives><mixed-citation xml:lang="ru">Kluwe L., Friedrich R.E., Korf B. et al. NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas // Human Mutation. – 2002. – Vol. 19. – №3. – P. 309-315.</mixed-citation><mixed-citation xml:lang="en">Kluwe L., Friedrich R.E., Korf B. et al. NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas // Human Mutation. – 2002. – Vol. 19. – №3. – P. 309-315.</mixed-citation></citation-alternatives></ref><ref id="cit19"><label>19</label><citation-alternatives><mixed-citation xml:lang="ru">Kweh F., Zheng M., Kurenova E. et al. Neurofibromin physically interacts with the N-terminal domain of focal adhesion kinase // Mol. Carcinog. – 2009. - Vol. 48. – №11. – P. 1005-1017.</mixed-citation><mixed-citation xml:lang="en">Kweh F., Zheng M., Kurenova E. et al. Neurofibromin physically interacts with the N-terminal domain of focal adhesion kinase // Mol. Carcinog. – 2009. - Vol. 48. – №11. – P. 1005-1017.</mixed-citation></citation-alternatives></ref><ref id="cit20"><label>20</label><citation-alternatives><mixed-citation xml:lang="ru">Lasater E.A., Li F., Bessler W.K., Estes M.L. Genetic and cellular evidence of vascular inflammation in neurofibromin-deficient mice and humans // J. Clin. Invest. – 2010. – Vol. 120. – №3. – P. 859-870.</mixed-citation><mixed-citation xml:lang="en">Lasater E.A., Li F., Bessler W.K., Estes M.L. Genetic and cellular evidence of vascular inflammation in neurofibromin-deficient mice and humans // J. Clin. Invest. – 2010. – Vol. 120. – №3. – P. 859-870.</mixed-citation></citation-alternatives></ref><ref id="cit21"><label>21</label><citation-alternatives><mixed-citation xml:lang="ru">Lee P.R., Cohen J.E., Fields R.D. Immune system evasion by peripheral nerve sheath tumor // Neurosci. Lett. – 2006. – Vol. 397. – №1. – P. 126-129.</mixed-citation><mixed-citation xml:lang="en">Lee P.R., Cohen J.E., Fields R.D. Immune system evasion by peripheral nerve sheath tumor // Neurosci. Lett. – 2006. – Vol. 397. – №1. – P. 126-129.</mixed-citation></citation-alternatives></ref><ref id="cit22"><label>22</label><citation-alternatives><mixed-citation xml:lang="ru">Luijten M., Wang Y., Smith B.T. et al. Mechanism of spreading of the highly related neurofibromatosis type 1 (NF1) pseudogenes on chromosomes 2, 14 and 22 // Eur. J. Hum. Genet. – 2000. – Vol. 8. – №3. – P. 209-214.</mixed-citation><mixed-citation xml:lang="en">Luijten M., Wang Y., Smith B.T. et al. Mechanism of spreading of the highly related neurofibromatosis type 1 (NF1) pseudogenes on chromosomes 2, 14 and 22 // Eur. J. Hum. Genet. – 2000. – Vol. 8. – №3. – P. 209-214.</mixed-citation></citation-alternatives></ref><ref id="cit23"><label>23</label><citation-alternatives><mixed-citation xml:lang="ru">McDaniel A.S., Allen J.D., Park S.J. Pak1 regulates multiple c-Kit mediated Ras-MAPK gain-in-function phenotypes in Nf1+/mast cells // Blood. – 2008. – Vol. 112. – №12. – P. 4646-4654.</mixed-citation><mixed-citation xml:lang="en">McDaniel A.S., Allen J.D., Park S.J. Pak1 regulates multiple c-Kit mediated Ras-MAPK gain-in-function phenotypes in Nf1+/mast cells // Blood. – 2008. – Vol. 112. – №12. – P. 4646-4654.</mixed-citation></citation-alternatives></ref><ref id="cit24"><label>24</label><citation-alternatives><mixed-citation xml:lang="ru">Mukhopadhyay D., Anant S., Lee R.M. et al. С &gt; U editing of Neurofibromatosis 1 mRNA Occurs in Tumors That Express Both the Type II Transcript and apobec-1, the Catalytic Subunit of the Apolipoproten B mRNA-Editing Enzyme // Am. J. Hum. Genet. – 2002. – Vol. 70. – P. 38-50.</mixed-citation><mixed-citation xml:lang="en">Mukhopadhyay D., Anant S., Lee R.M. et al. С &gt; U editing of Neurofibromatosis 1 mRNA Occurs in Tumors That Express Both the Type II Transcript and apobec-1, the Catalytic Subunit of the Apolipoproten B mRNA-Editing Enzyme // Am. J. Hum. Genet. – 2002. – Vol. 70. – P. 38-50.</mixed-citation></citation-alternatives></ref><ref id="cit25"><label>25</label><citation-alternatives><mixed-citation xml:lang="ru">MvGillicuddy L.T., Fromm J.A., Hollstein P.E. Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis // Cancer Cell. – 2009. – Vol. 16. – №1. – P. 44-54.</mixed-citation><mixed-citation xml:lang="en">MvGillicuddy L.T., Fromm J.A., Hollstein P.E. Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis // Cancer Cell. – 2009. – Vol. 16. – №1. – P. 44-54.</mixed-citation></citation-alternatives></ref><ref id="cit26"><label>26</label><citation-alternatives><mixed-citation xml:lang="ru">Patrakitkomjorn S., Kobayashi D., Morikawa T. Neurofibromatosis type 1 (NF1) tumor suppressor, neurofibromin, regulates the neuronal differentiation of PC12 cells via its associating protein, CRMP-2 // The Journal of Biological Chemistry. – 2008. – Vol. 283. – Р. 9399-9413.</mixed-citation><mixed-citation xml:lang="en">Patrakitkomjorn S., Kobayashi D., Morikawa T. Neurofibromatosis type 1 (NF1) tumor suppressor, neurofibromin, regulates the neuronal differentiation of PC12 cells via its associating protein, CRMP-2 // The Journal of Biological Chemistry. – 2008. – Vol. 283. – Р. 9399-9413.</mixed-citation></citation-alternatives></ref><ref id="cit27"><label>27</label><citation-alternatives><mixed-citation xml:lang="ru">Sangha N., Wu R., Kuick R. Neurofibromin 1 (NF1) defects are common in human ovarian serous carcinomas and co-occur with TP53 mutations // Neoplasia. – 2008. – №10. – P. 1362-1372.</mixed-citation><mixed-citation xml:lang="en">Sangha N., Wu R., Kuick R. Neurofibromin 1 (NF1) defects are common in human ovarian serous carcinomas and co-occur with TP53 mutations // Neoplasia. – 2008. – №10. – P. 1362-1372.</mixed-citation></citation-alternatives></ref><ref id="cit28"><label>28</label><citation-alternatives><mixed-citation xml:lang="ru">Schepper S., Maertens O., Callens T. et al. Somatic Mutation Analysis in NF1 Cafe au lait Spots Re- veals Two NF1 Hits in the Melanocytes // Journal of Investigative Dermatology. – 2008. – Vol. 128. – P. 1050-1053.</mixed-citation><mixed-citation xml:lang="en">Schepper S., Maertens O., Callens T. et al. Somatic Mutation Analysis in NF1 Cafe au lait Spots Re- veals Two NF1 Hits in the Melanocytes // Journal of Investigative Dermatology. – 2008. – Vol. 128. – P. 1050-1053.</mixed-citation></citation-alternatives></ref><ref id="cit29"><label>29</label><citation-alternatives><mixed-citation xml:lang="ru">Stevenson D., Zhou H., Ashrafi S. et al. Double inactivation of NF1 in tibial pseudarthrosis // The American Journal of Human Genetics. – 2006. – Vol. 79. – №1. – P. 143-148.</mixed-citation><mixed-citation xml:lang="en">Stevenson D., Zhou H., Ashrafi S. et al. Double inactivation of NF1 in tibial pseudarthrosis // The American Journal of Human Genetics. – 2006. – Vol. 79. – №1. – P. 143-148.</mixed-citation></citation-alternatives></ref><ref id="cit30"><label>30</label><citation-alternatives><mixed-citation xml:lang="ru">Upadhyaya M., Huson S.M., Davies M. et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation // The American Journal of Human Genetics. – 2007. – Vol. 80. – P. 140-151.</mixed-citation><mixed-citation xml:lang="en">Upadhyaya M., Huson S.M., Davies M. et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation // The American Journal of Human Genetics. – 2007. – Vol. 80. – P. 140-151.</mixed-citation></citation-alternatives></ref><ref id="cit31"><label>31</label><citation-alternatives><mixed-citation xml:lang="ru">Weiqi H., Horvath E., Eklund E. A. PU.1, interferon regulatory factor (IRF)2, and the interferon consensus sequence-binding protein (ICSBP/IRF8) cooperate to activate NF1 transcription in differentiating myeloid cells // The Journal of Biological Chemistry. – 2007. – Vol. 282. – P. 6629-6643.</mixed-citation><mixed-citation xml:lang="en">Weiqi H., Horvath E., Eklund E. A. PU.1, interferon regulatory factor (IRF)2, and the interferon consensus sequence-binding protein (ICSBP/IRF8) cooperate to activate NF1 transcription in differentiating myeloid cells // The Journal of Biological Chemistry. – 2007. – Vol. 282. – P. 6629-6643.</mixed-citation></citation-alternatives></ref><ref id="cit32"><label>32</label><citation-alternatives><mixed-citation xml:lang="ru">Wimmer K. Neurofibromatosis: the most frequent hereditary tumor predisposition syndrome // Wien. Med. Wochenschr. – 2005. – Vol. 155. – №11. – P. 273-280.</mixed-citation><mixed-citation xml:lang="en">Wimmer K. Neurofibromatosis: the most frequent hereditary tumor predisposition syndrome // Wien. Med. Wochenschr. – 2005. – Vol. 155. – №11. – P. 273-280.</mixed-citation></citation-alternatives></ref><ref id="cit33"><label>33</label><citation-alternatives><mixed-citation xml:lang="ru">Yang G., Khalaf W., Locht L. et al. Transcriptional repression of the neurofibromatosis-1 tumor suppressor by the t(8;21) fusion protein // Molecular and cellular biology. – 2005. – Vol. 25. – №14. – P. 5869-5879.</mixed-citation><mixed-citation xml:lang="en">Yang G., Khalaf W., Locht L. et al. Transcriptional repression of the neurofibromatosis-1 tumor suppressor by the t(8;21) fusion protein // Molecular and cellular biology. – 2005. – Vol. 25. – №14. – P. 5869-5879.</mixed-citation></citation-alternatives></ref><ref id="cit34"><label>34</label><citation-alternatives><mixed-citation xml:lang="ru">Zhu C., Saberwal G., Lu Y. et al. The interferon consensus sequence-binding protein activates transcription of the gene encoding neurofibromin 1 // J. Biol. Chem. – 2004. – Vol. 279. – №49. – P. 50874-50885.</mixed-citation><mixed-citation xml:lang="en">Zhu C., Saberwal G., Lu Y. et al. The interferon consensus sequence-binding protein activates transcription of the gene encoding neurofibromin 1 // J. Biol. Chem. – 2004. – Vol. 279. – №49. – P. 50874-50885.</mixed-citation></citation-alternatives></ref></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
