Page 94 - GPD-4-2

Gene & Protein in Disease Regulatory elements of ATP7B in WD

14. Gonzales E, Davit-Spraul A, Baussan C, Buffet C, Maurice M, promoter alleviates promoter competition and reactivates
Jacquemin E. Liver diseases related to MDR3 (ABCB4) gene fetal globin gene expression. Blood. 2022;139(14):2107-2118.
deficiency. Front Biosci (Landmark Ed). 2009;14(11):4242-4256.
doi: 10.1182/blood.2021014205
doi: 10.2741/3526 26. Kleinjan DA, Seawright A, Schedl A, Quinlan RA, Danes S,
15. Marchi G, Busti F, Lira Zidanes A, Castagna A, Girelli D. van Heyningen V. Aniridia-associated translocations, DNase
Aceruloplasminemia: A severe neurodegenerative disorder hypersensitivity, sequence comparison and transgenic
deserving an early diagnosis. Front Neurosci. 2019;13:325. analysis redefine the functional domain of PAX6. Hum Mol
Genet. 2001;10(19):2049-2059.
doi: 10.3389/fnins.2019.00325
doi: 10.1093/hmg/10.19.2049
16. Jaeken J, Matthijs G. Congenital disorders of glycosylation.
Annu Rev Genomics Hum Genet. 2001;2:129-151. 27. Pradhan S, Sengupta M, Dutta A, et al. Indian genetic
disease database. Nucleic Acids Res. 2011;39:D933-D938.
doi: 10.1146/annurev.genom.2.1.129
doi: 10.1093/nar/gkq1025
17. Ranucci G, Iorio R. Disorders that mimic Wilson disease.
In: Clinical and Translational Perspectives on Wilson Disease. 28. Gupta A, Chattopadhyay I, Dey S, et al. Molecular
Amsterdam, Netherlands: Elsevier. 2019;41:419-426. pathogenesis of Wilson disease among Indians: A perspective
on mutation spectrum in ATP7B gene, prevalent defects,
doi: 10.1016/B978-0-12-810532-0.00041-0
clinical heterogeneity and implication towards diagnosis.
18. Mukherjee S, Dutta S, Majumdar S, et al. Genetic defects Cell Mol Neurobiol. 2007;27(8):1023-1033.
in Indian Wilson disease patients and genotype-phenotype doi: 10.1007/s10571-007-9192-7
correlation. Parkinsonism Relat Disord. 2014;20(1):75-81.
29. Gupta A, Aikath D, Neogi R, et al. Molecular pathogenesis
doi: 10.1016/j.parkreldis.2013.09.021
of Wilson disease: Haplotype analysis, detection of prevalent
19. Todorov T, Balakrishnan P, Savov A, Socha P, Schmidt HH. mutations and genotype-phenotype correlation in Indian
Intragenic deletions in ATP7B as an unusual molecular patients. Hum Genet. 2005;118(1):49-57.
genetics mechanism of Wilson’s disease pathogenesis. PLoS
One. 2016;11(12):e0168372. doi: 10.1007/s00439-005-0007-y
30. Aggarwal A, Bhatt M. Update on Wilson disease. Int Rev
doi: 10.1371/journal.pone.0168372
Neurobiol. 2013;110:313-348.
20. Roy S, Ghosh S, Ray J, Ray K, Sengupta M. Missing heritability doi: 10.1016/B978-0-12-410502-7.00014-4
of Wilson disease: A search for the uncharacterized
mutations. Mamm Genome. 2023;34(1):1-11. 31. Cullen LM, Prat L, Cox DW. Genetic variation in the promoter
and 5’ UTR of the copper transporter, ATP7B, in patients with
doi: 10.1007/s00335-022-09971-y
Wilson disease. Clin Genet. 2003;64(5):429-432.
21. Teschke R, Eickhoff A. Wilson disease: Copper-mediated
cuproptosis, iron-related ferroptosis, and clinical highlights, doi: 10.1034/j.1399-0004.2003.00160.x
with comprehensive and critical analysis update. Int J Mol 32. Loudianos G, Dessi V, Lovicu M, et al. Molecular
Sci. 2024;25(9):4753. characterization of Wilson disease in the Sardinian population-
-evidence of a founder effect. Hum Mutat. 1999;14(4):294-303.
doi: 10.3390/ijms25094753
doi: 10.1002/(SICI)1098-1004(199910)14:4<294:AID-
22. Liu Y, Li C, Shen S, et al. Discovery of regulatory noncoding HUMU4>3.0.CO;2-9
variants in individual cancer genomes by using cis-X. Nat
Genet. 2020;52(8):811-818. 33. Yang CS, Liang XL, Li JY, Yan ZW, Huang F. Effect of the
mutation of promoter region in Wilson disease ATP7B gene
doi: 10.1038/s41588-020-0659-5
on the expression of reporter gene. Zhonghua Yi Xue Yi
23. Subramanian A, Su S, Moding EJ, Binkley MS. Investigating Chuan Xue Za Zhi. 2005;22(5):566-568.
the tissue specificity and prognostic impact of cis-regulatory 34. Wan L, Tsai CH, Hsu CM, et al. Mutation analysis and
cancer risk variants. Hum Genet. 2023;142(9):1395-1405.
characterization of alternative splice variants of the Wilson
doi: 10.1007/s00439-023-02586-6 disease gene ATP7B. Hepatology. 2010;52(5):1662-1670.
24. Ichiyama-Kobayashi S, Hata K, Wakamori K, et al. doi: 10.1002/hep.23865
Chromatin profiling identifies chondrocyte-specific Sox9 35. Chen HI, Jagadeesh KA, Birgmeier J, et al. An MTF1 binding
enhancers important for skeletal development. JCI Insight. site disrupted by a homozygous variant in the promoter
2024;9(11):e175486.
of ATP7B likely causes Wilson Disease. Eur J Hum Genet.
doi: 10.1172/jci.insight.175486 2018;26(12):1810-1818.
25. Topfer SK, Feng R, Huang P, et al. Disrupting the adult globin doi: 10.1038/s41431-018-0221-4

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