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1دورية أكاديمية
المؤلفون: E. A. Nikolaeva, A. N. Semyachkina, R. G. Kuramagomedova, O. S. Groznova, Е. А. Николаева, А. Н. Семячкина, Р. Г. Курамагомедова, О. С. Грознова
المساهمون: The study was carried out within the framework of state Funding «Study of the genetic basis of variability in the clinical manifestations of orphan diseases to predict the severity of their course and optimize the treatment of children», Исследование проведено в рамках финансирования Госзадания «Исследование генетических основ вариабельности клинических проявлений орфанных заболеваний для прогнозирования тяжести их течения и оптимизации лечения детей»
المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 69, № 1 (2024); 45-51 ; Российский вестник перинатологии и педиатрии; Том 69, № 1 (2024); 45-51 ; 2500-2228 ; 1027-4065
مصطلحات موضوعية: дупликация, Ehlers–Danlo syndrome, kyphoscoliotic type 1, vascular disorders, PLOD1 gene, duplication, синдром Элерса–Данло, кифосколиотический тип 1, сосудистые нарушения, ген PLOD1
وصف الملف: application/pdf
العلاقة: https://www.ped-perinatology.ru/jour/article/view/1937/1457Test; Malfait F., Francomano C., Byers P., Belmont J., Berglund B., Black J. et al. The 2017 international classification of the Ehlers–Danlos syndromes. Am J Med Genet C Semin Med Genet 2017; 175(1): 8–26. DOI:10.1002/ajmg.c.31552; Rohrbach M., Vandersteen A., Yiş U., Serdaroglu G., Ataman E., Chopra M. et al. Phenotypic variability of the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet J Rare Dis 2011; 6: 46. DOI:10.1186/1750–1172–6–46; Henneton P., Legrand A., Giunta C., Frank M. Arterial fragility in kyphoscoliotic Ehlers–Danlos syndrome. BMJ Case Rep 2018; 2018: bcr2018224423. DOI:10.1136/bcr-2018–224423; Krane S.M., Pinnell S.R., Erbe R.W. Lysyl protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine deficient collagen. Proc Natl Acad Sci USA 1972; 69: 2899–2903; Kivirikko K.I., Myllylä R. Posttranslational Enzymes in the Biosynthesis of Collagen: Intracellular Enzymes. Methods Enzymol 1982; 82: 245–304; Lim P.J., Lindert U., Opitz L., Hausser I., Rohrbach M., Giunta C. Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers–Danlos Syndrome. Genes 2019; 10(7): 517. DOI:10.3390/genes10070517; Baumann M., Giunta C., Krabichler B., Rüschendorf F., Zoppi N., Colombi M. et al. Mutations in FKBP14 Cause a Variant of Ehlers–Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss. Am J Hum Genet 2012; 90(2): 201–216. DOI:10.1016/j.ajhg.2011.12.004; Semyachkina A.N., Nikolaeva E.A., Galeeva N.Ma., Polyakov A.V., Kurnikova M.A., Belova V.А. et al. Ehlers–Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases. F1000Research 2021; 10: 502. DOI:10.12688/f1000research.52268.1; Beighton P., De Paepe A., Steinmann B., Tsipouras P., Wenstrup R.J. Ehlers–Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers–Danlos National Foundation (USA) and Ehlers–Danlos Support Group (UK). Am J Med Genet 1998; 77(1): 31–37. DOI:10.1002/(sici)1096–8628(19980428)77:13.0.co;2-o; Wenstrup R.J., Murad S., Pinnell S.R. Ehlers–Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency. J Pediatr 1989; 115: 405–409. DOI:10.1016/S0022–3476(89)80839-X; D’hondt S., Van Damme T., Malfait F. Vascular phenotypes in nonvascular subtypes of the Ehlers–Danlos syndrome : a systematic review. Genet Med 2018; 20(6): 562–573. DOI:10.1038/gim.2017.138; Colman M., Syx D., De Wandele I., Dhooge T., Symoens S., Malfait F. Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome. Hum Mutat 2021; 42(10): 1294–1306. DOI:10.1002/humu.24258; Gok E., Goksel O.S., Alpagut U., Dayioglu E. Spontaneous brachial pseudo-aneurysm in a 12-year-old with kyphoscoliosis-type Ehlers–Danlos Syndrome. Eur J Vasc Endovasc Surg 2012; 44: 482–484. DOI:10.1016/j.ejvs.2012.08.004; Van Damme T., Colman M., Syx D., Malfait F. The Ehlers–Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism. Genes (Basel) 2022; 13(2): 265. DOI:10.3390/genes13020265; Yan X., Shu J., Nie Y., Zhang Y., Wang P., Zhou W. et al. Identification and Functional Analysis of a Homozygous Synonymous Variant in the PLOD1 Gene in a Chinese Neonatal With the Ehlers–Danlos Syndrome. Front Pediatr 2022; 10: 813758. DOI:10.3389/fped.2022.813758; Foy M., Métay C., Frank M., Denarié N., Adham S., Billon C. et al. A severe case of PLOD1-related kyphoscoliotic Ehlers–Danlos syndrome associated with several arterial and venous complications: A case report. Clin Case Rep 2023; 11(2): e6760. DOI:10.1002/ccr3.6760; Heikkinen J., Toppinen T., Yeowell H., Krieg T., Steinmann B., Kivirikko K.I., Myllylä R. Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers–Danlos syndrome. Am J Hum Genet 1997; 60(1): 48–56; Brady A.F., Demirdas S., Fournel-Gigleux S., Ghali N., Giunta C., Kapferer-Seebacher I. et al. The Ehlers-Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet 2017; 175(1): 70–115. DOI:10.1002/ajmg.c.31550; Shin Y.L., Park Y.N., Jang M.A. Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers–Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing. J Korean Med Sci 2020; 35(10): e96. DOI:10.3346/jkms.2020.35.e96; Zahed-Cheikh M., Tosello B., Coze S., Gire C. Kyphoscolitic Type of Ehlers–Danlos Syndrome with Prenatal Stroke. Indian Pediatr 2017; 54(6): 495–497. DOI:10.1007/s13312–017–1054-x; Okuda-Ashitaka E., Matsumoto K.-I. Tenascin-X as a causal gene for classical-like Ehlers–Danlos syndrome. Front Genet 2023; 15: 14: 1107787. DOI:10.3389/fgene.2023.1107787; https://www.ped-perinatology.ru/jour/article/view/1937Test
الإتاحة: https://doi.org/10.21508/1027-4065-2024-69-1-45-51Test
https://doi.org/10.1002/ajmg.c.31552Test
https://doi.org/10.1186/1750Test–1172–6–46
https://doi.org/10.1136/bcr-2018Test–224423
https://doi.org/10.3390/genes10070517Test
https://doi.org/10.1016/j.ajhg.2011.12.004Test
https://doi.org/10.12688/f1000research.52268.1Test
https://doi.org/10.1002Test/(sici)1096–8628(19980428)77:1<31::aid-ajmg8>3.0.co;2-o
https://doi.org/10.1016/S0022Test–3476(89)80839-X
https://doi.org/10.1038/gim.2017.138Test -
2دورية أكاديمية
المؤلفون: Malika Foy, Corinne Métay, Michael Frank, Nicolas Denarié, Salma Adham, Clarisse Billon, Anne Legrand, Xavier Jeunemaitre, Fabrice Gillas, Karen Gaudon, Philippe De Mazancourt, Ahmed Mekki, Robert Carlier, Karelle Benistan
المصدر: Clinical Case Reports, Vol 11, Iss 2, Pp n/a-n/a (2023)
مصطلحات موضوعية: case report, kyphoscoliotic Ehlers–Danlos syndrome, PLOD1 gene, vascular complications, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2050-0904Test
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3دورية أكاديمية
المؤلفون: Xiaolin Ni, Chenxi Jin, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Weibo Xia
المصدر: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-8 (2020)
مصطلحات موضوعية: Kyphoscoliotic ehlers-danlos syndrome, PLOD1 gene, mutation, case report, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-020-01154-3Test; https://doaj.org/toc/1471-2350Test
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4دورية أكاديمية
المؤلفون: Sharon Flanagan (11662971), Áine Rowe (11662974), Vivienne Duggan (5567159), Erin Markle (11662977), Maureen O’Brien (11662980), Gerald Barry (289716)
مصطلحات موضوعية: Genetics, Molecular Biology, Developmental Biology, Science Policy, Virology, Biological Sciences not elsewhere classified, time pcr assay, single nucleotide change, plod1 gene encompassing, equine plod1 gene, disease typically die, causative genetic mutation, autosomal recessive condition, test requires amplification, high throughput analysis, computational analysis, commercial test, thus increasing, reliably differentiates, position 2032, large numbers, foals affected, euthanised shortly, currently available, cornell university, companies operating, affected foals
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5
المؤلفون: Sharon Flanagan (11662971), Áine Rowe (11662974), Vivienne Duggan (5567159), Erin Markle (11662977), Maureen O’Brien (11662980), Gerald Barry (289716)
مصطلحات موضوعية: Genetics, Molecular Biology, Developmental Biology, Science Policy, Virology, Biological Sciences not elsewhere classified, time pcr assay, single nucleotide change, plod1 gene encompassing, equine plod1 gene, disease typically die, causative genetic mutation, autosomal recessive condition, test requires amplification, high throughput analysis, computational analysis, commercial test, thus increasing, reliably differentiates, position 2032, large numbers, foals affected, euthanised shortly, currently available, cornell university, companies operating, affected foals
العلاقة: https://figshare.com/articles/dataset/Sequences_for_the_primers_and_probes_used_/16956231Test
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6صورة
المؤلفون: Sharon Flanagan (11662971), Áine Rowe (11662974), Vivienne Duggan (5567159), Erin Markle (11662977), Maureen O’Brien (11662980), Gerald Barry (289716)
مصطلحات موضوعية: Genetics, Molecular Biology, Developmental Biology, Science Policy, Virology, Biological Sciences not elsewhere classified, time pcr assay, single nucleotide change, plod1 gene encompassing, equine plod1 gene, disease typically die, causative genetic mutation, autosomal recessive condition, test requires amplification, high throughput analysis, computational analysis, commercial test, thus increasing, reliably differentiates, position 2032, large numbers, foals affected, euthanised shortly, currently available, cornell university, companies operating, affected foals
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7
المؤلفون: Sharon Flanagan (11662971), Áine Rowe (11662974), Vivienne Duggan (5567159), Erin Markle (11662977), Maureen O’Brien (11662980), Gerald Barry (289716)
مصطلحات موضوعية: Genetics, Molecular Biology, Developmental Biology, Science Policy, Virology, Biological Sciences not elsewhere classified, time pcr assay, single nucleotide change, plod1 gene encompassing, equine plod1 gene, disease typically die, causative genetic mutation, autosomal recessive condition, test requires amplification, high throughput analysis, computational analysis, commercial test, thus increasing, reliably differentiates, position 2032, large numbers, foals affected, euthanised shortly, currently available, cornell university, companies operating, affected foals
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8صورة
المؤلفون: Sharon Flanagan (11662971), Áine Rowe (11662974), Vivienne Duggan (5567159), Erin Markle (11662977), Maureen O’Brien (11662980), Gerald Barry (289716)
مصطلحات موضوعية: Genetics, Molecular Biology, Developmental Biology, Science Policy, Virology, Biological Sciences not elsewhere classified, time pcr assay, single nucleotide change, plod1 gene encompassing, equine plod1 gene, disease typically die, causative genetic mutation, autosomal recessive condition, test requires amplification, high throughput analysis, computational analysis, commercial test, thus increasing, reliably differentiates, position 2032, large numbers, foals affected, euthanised shortly, currently available, cornell university, companies operating, affected foals
العلاقة: https://figshare.com/articles/figure/Example_result_from_the_newly_developed_PCR_/16956222Test
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9صورة
المؤلفون: Sharon Flanagan (11662971), Áine Rowe (11662974), Vivienne Duggan (5567159), Erin Markle (11662977), Maureen O’Brien (11662980), Gerald Barry (289716)
مصطلحات موضوعية: Genetics, Molecular Biology, Developmental Biology, Science Policy, Virology, Biological Sciences not elsewhere classified, time pcr assay, single nucleotide change, plod1 gene encompassing, equine plod1 gene, disease typically die, causative genetic mutation, autosomal recessive condition, test requires amplification, high throughput analysis, computational analysis, commercial test, thus increasing, reliably differentiates, position 2032, large numbers, foals affected, euthanised shortly, currently available, cornell university, companies operating, affected foals
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10
المؤلفون: Sharon Flanagan (11662971), Áine Rowe (11662974), Vivienne Duggan (5567159), Erin Markle (11662977), Maureen O’Brien (11662980), Gerald Barry (289716)
مصطلحات موضوعية: Genetics, Molecular Biology, Developmental Biology, Science Policy, Virology, Biological Sciences not elsewhere classified, time pcr assay, single nucleotide change, plod1 gene encompassing, equine plod1 gene, disease typically die, causative genetic mutation, autosomal recessive condition, test requires amplification, high throughput analysis, computational analysis, commercial test, thus increasing, reliably differentiates, position 2032, large numbers, foals affected, euthanised shortly, currently available, cornell university, companies operating, affected foals
النص الكامل