Výsledky vyhľadávania - "ГЕТЕРОГЕННОСТЬ"

Zdroj: Complex Issues of Cardiovascular Diseases; Том 14, № 4 (2025); 135-155 ; Комплексные проблемы сердечно-сосудистых заболеваний; Том 14, № 4 (2025); 135-155 ; 2587-9537 ; 2306-1278

Predmety: Молекулярная пластичность, Arteries, Veins, Capillaries, Microvessels, Endothelial heterogeneity, Molecular plasticity, Артерии, Вены, Капилляры, Сосуды микроциркуляторного русла, Гетерогенность эндотелия

Popis súboru: application/pdf

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Полиморфизм дикорастущего южноамериканского картофеля Solanum chacoense по устойчивости к колорадскому жуку Leptinotarsa decemlineata

Zdroj: Вестник защиты растений, Vol 107, Iss 2 (2024)

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Molekuliarno-geneticheskii analiz posledovatel'nosti gena ENV virusa immunodefitsita cheloveka na territorii Respubliki Tatarstan

Autori: Natalia I. Andreeva Kazan Federal University Emmanuel Kabve a ďalší

Prispievatelia: Natalia I. Andreeva Kazan Federal University Emmanuel Kabve a ďalší

Zdroj: Fundamental and applied research for key propriety areas of bioecology and biotechnology; 50-57
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Predmety: генетическая гетерогенность, вирус иммунодефицита человека, ген Env, подтипы ВИЧ-1

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Clinical polymorphism and genetic heterogeneity of isolated and syndromal forms of retinitis pigmentosa in closed isolates of the Republic of Buryatia ; Клинический полиморфизм и генетическая гетерогенность изолированных и синдромальных форм пигментного ретинита в закрытых изолятах Республики Бурятия

Autori: V. V. Kadyshev S. V. Averyanova S. V. Kuznetsova a ďalší

Prispievatelia: V. V. Kadyshev S. V. Averyanova S. V. Kuznetsova a ďalší

Zdroj: Medical Genetics; Том 23, № 10 (2024); 21-29 ; Медицинская генетика; Том 23, № 10 (2024); 21-29 ; 2073-7998

Predmety: изолят Республики Бурятия, genetics, ophthalmology, retinitis pigmentosa, Usher syndrome, clinical polymorphism, genetic heterogeneity, генетика, офтальмология, пигментный ретинит, синдром Ашера, клинический полиморфизм, генетическая гетерогенность

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Relation: https://www.medgen-journal.ru/jour/article/view/2560/1822; Huang Z.Y., Liang L.N., Li Y.M., et al. Genetic, environmental and other risk factors for progression of retinitis pigmentosa. Int J Ophthalmol. 2022;15(5):828-837.; Yang Z., Yang J., Zhang Q., et al. Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association. 2020;37(3):295-299.; Кадышев В.В. Наследственные заболевания глаз: эпидемиология, генетическая гетерогенность, клинический полиморфизм. Диссертация на соискание ученой степени д.м.н. 2023. С. 303-304.; Verbakel S.K., van Huet R.A.C., Boon C.J.F., et al. Non-syndromic retinitis pigmentosa. Prog Retin Eye Res. 2018;66:157-186.; O’Neal T.B., Luther E.E. Retinitis Pigmentosa. In: StatPearls. Treasure Island (FL). StatPearls Publishing. 2021.; Bruninx R., Lepièce G. L’image du mois. La rétinite pigmentaire [Retinitis pigmentosa]. Rev Med Liege. 2020;75(2):73-74.; Delmaghani S., El-Amraoui A. The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification. Hum Genet. 2022;141;709-735.; Bonnet C., El-Amraoui A. Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin Neurol. 2012;25:42-49.; Castiglione A., Moller C. Usher syndrome. Audiol Res. 2022;12:42-65.; Geleoc G.G.S., El-Amraoui A. Disease mechanisms and gene therapy for Usher syndrome. Hear Res. 2020;394:107932.; Mathur P., Yang J. Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities. Biochim Biophys Acta. 2015;1852:406-420.; Nisenbaum E., Thielhelm T.P., Nourbakhsh A., et al. Review of genotype-phenotype correlations in Usher syndrome. Ear Hear. 2021;43(1):1-8.; Orphanet Report Series – Prevalence of rare diseases: Bibliographic data. January 2019. Доступно по ссылке https://www.orpha.net/pdfs/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf; Millán J.M., Aller E., Jaijo T., et al. An Update on the Genetics of Usher Syndrome. J. Ophthalmol. 2011;2011:1-8.; Fuster-García C., García-Bohórquez B., Rodríguez-Muñoz A., et al. Usher Syndrome: Genetics of a Human Ciliopathy. International Journal of Molecular Sciences. 2021;22(13):6723.; Koenekoop R., Arriaga M., Trzupek K.M., et al. Usher Syndrome Type II. 2020. In: Adam M.P., Everman D.B., Mirzaa G.M. et al., editors. GeneReviews®. Seattle (WA): University of Washington.; Pierrottet C.O., Zuntini M., Digiuni M., et al. Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations. Genet Mol Res. 2014;13(4):8815-8833.; Fahim A.T., Daiger S.P., Weleber R.G. Nonsyndromic Retinitis Pigmentosa Overview. 2017. In: Adam M.P., Everman D.B., Mirzaa G.M. et al., editors. GeneReviews®. Seattle (WA): University of Washington.; Медицинская генетика: национальное руководство. Под ред. Гинтера Е.К., Пузырева В.П., Куцева С.И. Москва: ГЭОТАР-Медиа, 2022.-896 с. 2022;896:441-447.; Sullivan L.S., Bowne S.J., Birch D.G., et al. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci. 2006;47(7):3052-3064.; Duncan J.L., Bernstein P.S., Birch D.G., et al. Recommendations on clinical assessment of patients with inherited retinal degenerations – 2016. American Academy of Ophthalmology. 2016.; Гинтер Е.К. Генетика в офтальмологии. Медицинская генетика. 2006;5(7):3–8.; Винер М.Е., Атарщиков Д.С., Кадышев В.В., и др. Особенности патофизиологии зрительного цикла, каскада и метаболических путей при пигментном ретините. Российский офтальмологический журнал. 2021;14(1):80–88.

Dostupnosť: https://www.medgen-journal.ru/jour/article/view/2560
https://doi.org/10.25557/2073-7998.2024.10.21-29

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9

О ЛИНГВОСЕМИОТИЧЕСКОЙ ГЕТЕРОГЕННОСТИ НАУЧНОГО ДИСКУРСА

Predmety: scientific worldview, 4. Education, асимметрия терминосистем, linguistic worldview, научная картина мира, linguosemiotic heterogeneity, 16. Peace & justice, межъязыковое взаимодействие, научный дискурс, scientific discourse, лингвосемиотическая гетерогенность, asymmetry of terminosystems, языковая картина мира, interlingual interaction

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10

ОЦЕНКА ЭЛЕКТРОННОЙ ИНФОРМАЦИОННО-ОБРАЗОВАТЕЛЬНОЙ СРЕДЫ ВУЗА ФИЗИЧЕСКОЙ КУЛЬТУРЫ И СПОРТА

Predmety: степень унификации электронной информационно-образовательной среды, components of electronic information and educational environment, электронная информационно-образовательная среда вуза, evaluation of electronic information and educational environment, expert survey method, 4. Education, метод экспертного опроса, degree of unification of electronic information and educational environment, electronic information and educational environment of universities, homogeneity – heterogeneity of electronic information and educational environment, гомогенность – гетерогенность электронной информационно-образовательной среды, оценка электронной информационно-образовательной среды, компоненты электронной информационно-образовательной среды

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11

REMODELING OF MYOCARDIAL HETEROGENEITY

Zdroj: Вестник МГПУ. Серия Естественные науки.

Predmety: myocardial heterogeneity, left ventricle, левый желудочек, ремоделирование сердца, гетерогенность миокарда, heart, cardiac remodeling, сердце, 3. Good health

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12

Analysis of the qualitative structure of small business: the main categories of small enterprises, their functions and features of development strategies

Zdroj: Экономика и предпринимательство. :720-726

Predmety: 9. Industry and infrastructure, 1. No poverty, банковское кредитования малых фирм, устойчивость, sustainability, 12. Responsible consumption, малый бизнес, small business, bank lending to small businesses, 8. Economic growth, системная структура, гетерогенность, heterogeneity, малые и средние предприятия, development strategies, стратегии развития, small and medium enterprises, system structure

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13

Tumor Heterogeneity and Post-Irradiation Dysfunction of Endothelium in the Assessment of Response to Treatment in Neuro-Oncology: View of the Problem and Our Practical Experience

Zdroj: Евразийский онкологический журнал. :58-65

Predmety: response assessment, постлучевая дисфункция эндотелия, MRI perfusion, радиомика, 3. Good health, gliomas, 03 medical and health sciences, 0302 clinical medicine, опухолевая гетерогенность, МРТ-перфузия, radiomics, tumor heterogeneity, оценка ответа на терапию, глиомы, post-irradiation dysfunction of endothelium

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14

ПОПУЛЯЦИИ ВОЗБУДИТЕЛЯ И ХОЗЯИНА – ЦЕНТРАЛЬНОЕ ПОНЯТИЕ САМОРЕГУЛЯЦИИ ПАРАЗИТАРНЫХ СИСТЕМ

Predmety: популяции возбудителя и хозяина, self-regulation of parasitic systems, популяционный иммунитет, variability and heterogeneity, pathogen and host populations, изменчивость и гетерогенность, population immunity, саморегуляция паразитарных систем

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15

ИССЛЕДОВАНИЕ ПРИМЕНЕНИЯ МОДЕЛЕЙ MASK R-CNN И SEGMENT ANYTHING MODEL (SAM) ДЛЯ ИНСТАНС-СЕГМЕНТАЦИИ МЕЗЕНХИМНЫХ СТВОЛОВЫХ КЛЕТОК НА МИКРОФОТОГРАФИЯХ

Predmety: mesenchymal stem cells, морфологическая гетерогенность, мезенхимные стволовые клетки, адаптация моделей, morphological heterogeneity, automated cell culture analysis, model adaptation, биомедицинские изображения, instance segmentation, автоматизированный анализ культур, biomedical imaging, инстанс-сегментация, плотность клеток, cell density

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16

СИНОПСИС ПОЗИЦИОНИРОВАНИЯ ОБРАЗОВАТЕЛЬНЫХ СИСТЕМ АРКТИЧЕСКИХ РАЙОНОВ ЯКУТИИ

Predmety: evaluation, арктические районы, arctic regions, факторы среды, territorial educational system, educational development management, evaluation methods and tools, управление развитием, environmental factors, positioning, оценка, development management, позиционирование, гетерогенность, heterogeneity, методы и инструменты оценки, территориальная образовательная система

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17

THE PROCESS OF INTERACTION OF DISCOURSES IN POLITICAL COMMUNICATION

Zdroj: Вестник МГПУ. Серия Филология. Теория языка. Языковое образование.

Predmety: политический дискурс, interdiscursivity, political discourse, дискурсивная гетерогенность, polydiscursivity, discursive heterogeneity, communication on Twitter, коммуникация в Twitter, интердискурсивность, полидискурсивность

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18

Белорусы Литвы в архивных документах Франции (1918-1923 гг.)

Predmety: демография, архивные документы, литовская политика, конфессиональная гетерогенность, белорусские представители, национальная культура, национальные меньшинства

Popis súboru: application/pdf

Prístupová URL adresa: https://rep.vsu.by/handle/123456789/38376

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19

Molecular genetic basis of epidermolysis bullosa ; Молекулярно-генетические основы буллезного эпидермолиза

Autori: Yu. Yu. Kotalevskaya V. A. Stepanov Ю. Ю. Коталевская a ďalší

Prispievatelia: Yu. Yu. Kotalevskaya V. A. Stepanov Ю. Ю. Коталевская a ďalší

Zdroj: Vavilov Journal of Genetics and Breeding; Том 27, № 1 (2023); 18-27 ; Вавиловский журнал генетики и селекции; Том 27, № 1 (2023); 18-27 ; 2500-3259 ; 10.18699/VJGB-23-01

Predmety: гетерогенность, pathogenesis, genotype-phenotype correlations, heterogeneity, патогенез, корреляции генотип-фенотип

Popis súboru: application/pdf

Relation: https://vavilov.elpub.ru/jour/article/view/3628/1679; Arin M.J., Grimberg G., Schumann H., de Almeida H. Jr., Chang Y.- R., Tadini G., Kohlhase J., Krieg T., Bruckner-Tuderman L., Has C. Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. Br. J. Dermatol. 2010;162(6):1365-1369. DOI 10.1111/j.1365-2133.2010.09657.x.; Asaka T., Akiyama M., Domon T., Nishie W., Natsuga K., Fujita Y., Abe R., Kitagawa Y., Shimizu H. Type XVII collagen is a key player in tooth enamel formation. Am. J. Pathol. 2009;174(1):91-100. DOI 10.2353/AJPATH.2009.080573.; Aumailley M., el Khal A., Knöss N., Tunggal L. Laminin 5 processing and its integration into the ECM. Matrix Biol. 2003;22(1):49-54. DOI 10.1016/S0945-053X(03)00013-1.; Bardhan A., Bruckner-Tuderman L., Chapple I.L.C., Fine J.-D., Harper N., Has C., Magin T.M., Marinkovich M.P., Marshall J.F., McGrath J.A., Mellerio J.E., Polson R., Heagerty A.H. Epidermolysis bullosa. Nat. Rev. Dis. Primers. 2020;6(1):78. DOI 10.1038/s41572-020-0210-0.; Bolling M.C., Lemmink H.H., Jansen G.H.L., Jonkman M.F. Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75 % of the patients. Br. J. Dermatol. 2011;164(3):637-644. DOI 10.1111/j.1365-2133.2010.10146.x.; Bruckner-Tuderman L., Mcgrath J.A., Robinson E.C., Uitto J. Progress in Epidermolysis bullosa research: summary of DEBRA International Research Conference 2012. J. Invest. Dermatol. 2013;133(9): 2121-2126. DOI 10.1038/jid.2013.127.; Bunick C.G., Milstone L.M. The X-ray crystal structure of the keratin 1-keratin 10 helix 2B heterodimer reveals molecular surface properties and biochemical insights into human skin disease. J. Invest. Dermatol. 2017;137(1):142-150. DOI 10.1016/j.jid.2016.08.018.; Chen M., Keene D.R., Costa F.K., Tahk S.H., Woodley D.T. The carboxyl terminus of type VII collagen mediates antiparallel dimer formation and constitutes a new antigenic epitope for epidermolysis bullosa acquisita autoantibodies. J. Biol. Chem. 2001;276(24):21649-21655. DOI 10.1074/JBC.M100180200.; Chung H.J., Uitto J. Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa. Dermatol. Clin. 2010; 28(1):93-105. DOI 10.1016/J.DET.2009.10.011.; Condrat I., He Y., Cosgarea R., Has C. Junctional epidermolysis bullosa: allelic heterogeneity and mutation stratification for precision medicine. Front. Med. (Lausanne). 2019;5:363. DOI 10.3389/fmed.2018.00363.; Dhanoa B.S., Cogliati T., Satish A.G., Bruford E.A., Friedman J.S. Update on the Kelch-like (KLHL) gene family. Hum. Genomics. 2013;7(1):13. DOI 10.1186/1479-7364-7-13.; Dogic D., Rousselle P., Aumailley M. Cell adhesion to laminin 1 or 5 induces isoform-specific clustering of integrins and other focal adhesion components. J. Cell Sci. 1998;111(Pt. 6):793-802. DOI 10.1242/JCS.111.6.793.; Fine J.-D. Inherited epidermolysis bullosa. Orphanet J. Rare Dis. 2010; 5:12. DOI 10.1186/1750-1172-5-12.; Ganani D., Malovitski K., Sarig O., Gat A., Sprecher E., Samuelov L. Epidermolysis bullosa simplex due to bi-allelic DST mutations: Case series and review of the literature. Pediatr. Dermatol. 2021;38(2): 436-441. DOI 10.1111/pde.14477.; Gostyńska K.B., Nijenhuis M., Lemmink H., Pas H.H., Pasmooij A.M.G., Lang K.K., Castañón M.J., Wiche G., Jonkman M.F. Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex. Hum. Mol. Genet. 2015;24(11):3155-3162. DOI 10.1093/hmg/ddv066.; Grilletta E.A. Cardiac transplant for epidermolysis bullosa simplex with KLHL24 mutation-associated cardiomyopathy. JAAD Case Rep. 2019;5(10):912-914. DOI 10.1016/j.jdcr.2019.08.009.; Has C., Bauer J.W., Bodemer C., Bolling M.C., Bruckner-Tuderman L., Diem A., Fine J.-D., Heagerty A., Hovnanian A., Marinkovich M.P., Martinez A.E., McGrath J.A., Moss C., Murrell D.F., Palisson F., Schwieger-Briel A., Sprecher E., Tamai K., Uitto J., Woodley D.T., Zambruno G., Mellerio J.E. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br. J. Dermatol. 2020a;183(4):614-627. DOI 10.1111/bjd.18921.; Has C., Bruckner-Tuderman L. The genetics of skin fragility. Annu. Rev. Genomics Hum. Genet. 2014;15(1):245-268. DOI 10.1146/annurev-genom-090413-025540.; Has C., Castiglia D., del Rio M., Garcia Diez M., Piccinni E., Kiritsi D., Kohlhase J., Itin P., Martin L., Fischer J., Zambruno G., Bruckner-Tuderman L. Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history. Hum. Mutat. 2011;32(11):1204-1212. DOI 10.1002/HUMU.21576.; Has C., Chang Y.-R., Volz A., Hoeping D., Kohlhase J., Bruckner-Tuderman L. Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex. J. Invest. Dermatol. 2006; 126(8):1912-1914. DOI 10.1038/sj.jid.5700312.; Has C., Fischer J. Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes. Exp. Dermatol. 2019;28(10):1146-1152. DOI 10.1111/exd.13668.; Has C., Nyström A. Epidermal basement membrane in health and disease. Curr. Top. Membr. 2015;76:117-170. DOI 10.1016/bs.ctm.2015.05.003.; Has C., South A., Uitto J. Molecular therapeutics in development for epidermolysis bullosa: Update 2020. Mol. Diagn. Ther. 2020b; 24(3):299-309. DOI 10.1007/s40291-020-00466-7.; Has C., Spartà G., Kiritsi D., Weibel L., Moeller A., Vega-Warner V., Waters A., He Y., Anikster Y., Esser P., Straub B.K., Hausser I., Bockenhauer D., Dekel B., Hildebrandt F., Bruckner-Tuderman L., Laube G.F. Integrin α3 mutations with, lung, and skin disease. N. Engl. J. Med. 2012;366(16):1508-1514. DOI 10.1056/NEJMOA1110813.; Hovnanian A., Rochat A., Bodemer C., Petit E., Rivers C.A., Prost C., Fraitag S., Christiano A.M., Uitto J., Lathrop M., Barrandon Y., de Prost Y. Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation. Am. J. Hum. Genet. 1997;61(3):599-610. DOI 10.1086/515495.; Karamatic Crew V., Burton N., Kagan A., Green C.A., Levene C., Flinter F., Brady R.L., Daniels G., Anstee D.J. CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin. Blood. 2004;104(8):2217-2223. DOI 10.1182/blood-2004-04-1512.; Kiritsi D., Has C., Bruckner-Tuderman L. Laminin 332 in junctional epidermolysis bullosa. Cell Adh. Migr. 2013;7(1):135-141. DOI 10.4161/CAM.22418.; Kiritsi D., Kern J.S., Schumann H., Kohlhase J., Has C., Bruckner-Tuderman L. Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. J. Med. Genet. 2011;48(7):450-457. DOI 10.1136/JMG.2010.086751.; Kiritsi D., Tsakiris L., Schauer F. Plectin in skin fragility disorders. Cells. 2021;10(10):2738. DOI 10.3390/cells10102738.; Koss-Harnes D., Høyheim B., Anton-Lamprecht I., Gjesti A., Jørgensen R.S., Jahnsen F.L., Olaisen B., Wiche G., Gedde-Dahl T. A sitespecific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. J. Invest. Dermatol. 2002;118(1):87-93. DOI 10.1046/j.0022-202x.2001.01591.x.; Kumar V., Bouameur J.E., Bär J., Rice R.H., Hornig-Do H.T., Roop D.R., Schwarz N., Brodesser S., Thiering S., Leube R.E., Wiesner R.J., Brazel C.B., Heller S., Binder H., Löffler-Wirth H., Seibel P., Magin T.M. A keratin scaffold regulates epidermal barrier formation, mitochondrial lipid composition, and activity. J. Cell Biol. 2015; 211(5):1057-1075. DOI 10.1083/JCB.201404147.; Lai-Cheong J.E., McGrath J.A. Kindler syndrome. In: Murrell D. (Ed.). Blistering Diseases: Clinical Features, Pathogenesis, Treatment. Berlin; Heidelberg: Springer, 2022;433-439. DOI 10.1007/978-3-662-45698-9_43.; Liu Y., Yue Z., Wang H., Li M., Wu X., Lin H., Han W., Lan S., Sun L. A novel ITGA3 homozygous splice mutation in an ILNEB syndrome child with slow progression. Clin. Chim. Acta. 2021;523:430-436. DOI 10.1016/J.CCA.2021.10.027.; Margadant C., Charafeddine R.A., Sonnenberg A. Unique and redundant functions of integrins in the epidermis. FASEB J. 2010;24(11): 4133-4152. DOI 10.1096/fj.09-151449.; Mariath L.M., Santin J.T., Frantz J.A., Doriqui M.J.R., Schuler-Faccini L., Kiszewski A.E. Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review. Clin. Genet. 2021;99(1):29-41. DOI 10.1111/cge.13792.; Mariath L.M., Santin J.T., Schuler-Faccini L., Kiszewski A.E. Inherited epidermolysis bullosa: update on the clinical and genetic aspects. An. Bras. Dermatol. 2020;95(5):551-569. DOI 10.1016/j.abd.2020.05.001.; Masunaga T., Ogawa J., Akiyama M., Nishikawa T., Shimizu H., Ishiko A. Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia. J. Dermatol. 2017;44(2):160-166. DOI 10.1111/1346-8138.13575.; Matsumura H., Mohri Y., Thanh Binh N., Morinaga H., Fukuda M., Ito M., Kurata S., Hoeijmakers J., Nishimura E.K. Hair follicle aging is driven by transepidermal elimination of stem cells via COL17A1 proteolysis. Science. 2016;351(6273):aad4395. DOI 10.1126/science.aad4395.; Murrell D.F., Pasmooij A.M.G., Pas H.H., Marr P., Klingberg S., Pfendner E., Uitto J., Sadowski S., Collins F., Widmer R., Jonkman M.F. 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Features of epidermolysis bullosa simplex due to mutations in the ectodomain of type XVII collagen. Br. J. Dermatol. 2004;151(3):669-674. DOI 10.1111/J.1365-2133.2004.06041.X.; Prodinger C., Chottianchaiwat S., Mellerio J.E., McGrath J.A., Ozoemena L., Liu L., Moore W., Laimer M., Petrof G., Martinez A.E. The natural history of laryngo-onycho-cutaneous syndrome: A case series of six pediatric patients and literature review. Pediatr. Dermatol. 2021;38(5):1094-1101. DOI 10.1111/PDE.14790.; Rognoni E., Ruppert R., Fässler R. The kindlin family: functions, signaling properties and implications for human disease. J. Cell Sci. 2016;129(1):17-27. DOI 10.1242/JCS.161190.; Sathishkumar D., Orrin E., Terron-Kwiatkowski A., Browne F., Martinez A.E., Mellerio J.E., Ogboli M., Hoey S., Ozoemena L., Liu L., Baty D., McGrath J.A., Moss C. The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex. J. Invest. 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Intratumor heterogeneity: models of malignancy emergence and evolution ; Внутриопухолевая гетерогенность: модели возникновения и эволюции злокачественных опухолей

Autori: R. A. Ivanov S. A. Lashin Р. А. Иванов a ďalší

Prispievatelia: R. A. Ivanov S. A. Lashin Р. А. Иванов a ďalší

Zdroj: Vavilov Journal of Genetics and Breeding; Том 27, № 7 (2023); 815-819 ; Вавиловский журнал генетики и селекции; Том 27, № 7 (2023); 815-819 ; 2500-3259 ; 10.18699/VJGB-23-83

Predmety: гетерогенность, evolution, heterogeneity, эволюция

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