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1Academic Journal
Συγγραφείς: T. V. Markova, V. M. Kenis, E. V. Melchenko, P. V. Ochirova, T. S. Nagornova, P. N. Tsabai, D. V. Osipova, N. A. Semenova, L. A. Bessonova, N. A. Demina, E. Y. Zakharova, E. L. Dadali, Т. В. Маркова, В. М. Кенис, Е. В. Мельченко, П. В. Очирова, Т. С. Нагорнова, П. Н. Цабай, Д. В. Осипова, Н. А. Семенова, Л. А. Бессонова, Н. А. Демина, Е. Ю. Захарова, Е. Л. Дадали
Πηγή: Medical Genetics; Том 21, № 4 (2022); 25-37 ; Медицинская генетика; Том 21, № 4 (2022); 25-37 ; 2073-7998
Θεματικοί όροι: метатропная дисплазия, TRPV4 gene, exome sequencing, major mutations, spondylometaphyseal dysplasia, metatropic dysplasia, Kozlowski type, ген TRPV4, секвенирование экзома, мажорные мутации, спондилометафизарная дисплазия Козловского
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Relation: https://www.medgen-journal.ru/jour/article/view/2051/1559; Liedtke W., Choe Y., Martí-Renom M.A., et al. Vanilloid Receptor-Related Osmotically Activated Channel (VR-OAC), a Candidate Vertebrate Osmoreceptor. Cell. 2000;103(3):525-535. doi:10.1016/S0092-8674(00)00143-4; Rock M.J., Prenen J., Funari V.A., et al. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet. 2008;40(8):999-1003. doi:10.1038/ng.166; Bieganski T., Beighton P., Lukaszewski M., et al. SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae. Eur J Med Genet. 2017;60(10):509-516. doi:10.1016/j.ejmg.2017.07.004; Nonaka K., Han X., Kato H., et al. Novel gain-of-function mutation of TRPV4 associated with accelerated chondrogenic differentiation of dental pulp stem cells derived from a patient with metatropic dysplasia. Biochem Biophys Reports. 2019;19(April):100648. doi:10.1016/j.bbrep.2019.100648; Leddy H.A., McNulty A.L., Rothfusz N.E., et al. Follistatin in chondrocytes: The link between TRPV4 channelopathies and skeletal malformations. FASEB J. 2014;28(6):2525-2537. doi:10.1096/fj.13-245936; Kozlowski K., Maroteaux P., Spranger J. La dysostose spondylometaphisaire. Press méd. 1967;75:2769-2774.; Dai J., Kim O.H., Cho T.J., et al. Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J Med Genet. 2010;47(10):704-709. doi:10.1136/jmg.2009.075358; Krakow D., Vriens J., Camacho N., et al. Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia. Am J Hum Genet. 2009;84(3):307-315. doi:10.1016/j.ajhg.2009.01.021; Maroteaux P., Spranger J., Wiedemann H.R. Metatrophic dwarfism. Arch Kinderheilkd. 1966;173(3):211-226.; Nishimura G., Lausch E., Savarirayan R., et al. TRPV4-associated skeletal dysplasias. Am J Med Genet Part C Semin Med Genet. 2012;160 C(3):190-204. doi:10.1002/ajmg.c.31335; Ürel-Demir G., Şimşek-Kiper P.Ö., Öncel İ., Utine G.E., Haliloğlu G., Boduroğlu K. Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype. Eur J Paediatr Neurol. 2021;32:46-55. doi:10.1016/j.ejpn.2021.03.011; Kannu P., Aftimos S., Mayne V., Donnan L., Savarirayan R. Metatropic dysplasia: Clinical and radiographic findings in 11 patients demonstrating long-term natural history. Am J Med Genet Part A. 2007;143A(21):2512-2522. doi:10.1002/ajmg.a.31941; Geneviève D., Le Merrer M., Feingold J., Munnich A., Maroteaux P., Cormier-Daire V. Revisiting metatropic dysplasia: Presentation of a series of 19 novel patients and review of the literature. Am J Med Genet Part A. 2008;146(8):992-996. doi:10.1002/ajmg.a.32191; Nemec S.F., Cohn D.H., Krakow D., Funari V.A., Rimoin D.L., Lachman R.S. The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). Pediatr Radiol. 2012;42(1):15-23. doi:10.1007/s00247-011-2229-6; Cho T.J., Matsumoto K., Fano V., et al. TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: A report of three patients. Am J Med Genet Part A. 2012;158 A(4):795-802. doi:10.1002/ajmg.a.35268; Faye E., Modaff P., Pauli R., Legare J.Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant. Mol Syndromol. 2019;10(3):154-160. doi:10.1159/000495778; Richards S., Aziz N., Bale S., et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424. doi:10.1038/GIM.2015.30; Andreucci E., Aftimos S., Alcausin M., et al. TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families. Orphanet J Rare Dis. 2011;6(1):1-8. doi:10.1186/1750-1172-6-37.; O’Conor C.J., Leddy H.A., Benefield H.C., Liedtke W.B., Guilak F. TRPV4-mediated mechanotransduction regulates the metabolic response of chondrocytes to dynamic loading. Proc Natl Acad Sci USA. 2014;111(4):1316-1321. doi:10.1073/pnas.1319569111; Nilius B., Voets T. The puzzle of TRPV4 channelopathies. EMBO Rep. 2013;14(2):152-163. doi:10.1038/embor.2012.219; Camacho N., Krakow D., Johnykutty S., et al. Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia. Am J Med Genet Part A. 2010;152A(5):1169-1177. doi:10.1002/ajmg.a.33392
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2Academic Journal
Συγγραφείς: Timkovskaya Elizabeth, Makaov Amin, Mikhailova Lyudmila, Vasilyeva T. A., Marakhonov A. V., Galkina V. A ., Kutsev Sergey, Zinchenko Rena
Θεματικοί όροι: генетическая эпидемиология, метатропная дисплазия, ген TRPV4, мутация de novo
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