Correlación de la inactivación del cromosoma X con la presentación clínica de la enfermedad de Fabry a propósito de un caso
Tài liệu tham khảo
Viggiano, 2021, X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis, Int J Mol Sci., 22, 7663, 10.3390/ijms22147663
Felis, 2019, Current and Investigational Therapeutics for Fabry Disease, Kidney Int Rep., 5, 407, 10.1016/j.ekir.2019.11.013
Lenders, 2021, Precision medicine in Fabry disease, Nephrol Dial Transplant., 36, 14, 10.1093/ndt/gfab038
Ortiz, 2018, Fabry disease revisited: Management and treatment recommendations for adult patients, Mol Genet Metab., 123, 416, 10.1016/j.ymgme.2018.02.014
Wanner, 2018, European expert consensus statement on therapeutic goals in Fabry disease, Mol Genet Metab., 124, 189, 10.1016/j.ymgme.2018.06.004
Schiffmann, 2017, Screening, diagnosis, and management of patients with Fabry disease: conclusions from a “Kidney Disease: Improving Global Outcomes“(KDIGO) Controversies Conference, Kidney Int., 91, 284, 10.1016/j.kint.2016.10.004
Germain, 2019, The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - A systematic literature review by a European panel of experts, Mol Genet Metab., 126, 224, 10.1016/j.ymgme.2018.09.007
Ars, 2005, Male-to-male transmission of X-linked Alport syndrome in a boy with a 47, XXY karyotype. Eur J Hum Genet., 13, 1040, 10.1038/sj.ejhg.5201452
Echevarria, 2016, X-chromosome inactivation in female patients with Fabry disease, Clin Genet., 89, 44, 10.1111/cge.12613
Patrat, 2020, X chromosome inactivation in human development, Development., 147, dev183095, 10.1242/dev.183095
Migeon, 2008, X Inactivation, Female Mosaicism, and Sex Differences in Renal Diseases, J Am Soc Nephrol., 19, 2052, 10.1681/ASN.2008020198
Řeboun, 2022, Pitfalls of X-chromosome inactivation testing in females with Fabry disease, Am J Med Genet A., 188, 1979, 10.1002/ajmg.a.62728
Ars E. Enfoque genético de las enfermedades renales hereditarias. Laboratorio de Biología Molecular, Fundació Puigvert, Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau), Universitat Autònoma de Barcelona, REDINREN, Barcelona. Actualizado feb 2021. Disponible en: www.nefrologiaaldia.org
Migeon, 2020, X-linked diseases: susceptible females, Genet Med., 22, 1156, 10.1038/s41436-020-0779-4
Sahakyan, 2018, The role of Xist in X-chromosome Dosage Compensation, Trends Cell Biol., 28, 999, 10.1016/j.tcb.2018.05.005
Yang, 2015, The lncRNA Firre anchors the inactive X chromosome to the nucleolus by binding CTCF and maintains H3K27me3 methylation, Genome Biol., 16, 52, 10.1186/s13059-015-0618-0
Nguyen, 2006, Dosage compensation of the active X chromosome in mammals, Nat Genet., 38, 47, 10.1038/ng1705
Baumann, 2009, ATRX marks the inactive X chromosome (Xi) in somatic cells and during imprinted X chromosome inactivation in trophoblast stem cells, Chromosoma., 118, 209, 10.1007/s00412-008-0189-x
Di Risi, 2021, DNA methylation impact on Fabry disease, Clin Epigenetics., 13, 24, 10.1186/s13148-021-01019-3