|
1
|
Germain DP: Fabry disease. Orphanet J Rare
Dis. 5(30)2010.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Chan B and Adam DN: A review of Fabry
disease. Skin Therapy Lett. 23:4–6. 2018.PubMed/NCBI
|
|
3
|
Hsu TR and Niu DM: Fabry disease: Review
and experience during newborn screening. Trends Cardiovasc Med.
28:274–281. 2018.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Platt FM, d'Azzo A, Davidson BL, Neufeld
EF and Tifft CJ: Lysosomal storage diseases. Nat Rev Dis Primers.
4(27)2018.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Nair V, Belanger EC and Veinot JP:
Lysosomal storage disorders affecting the heart: A review.
Cardiovasc Pathol. 39:12–24. 2019.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Sun A: Lysosomal storage disease overview.
Ann Transl Med. 6(476)2018.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Desnick RJ, Ioannou YA and Eng CM:
Alpha-galactosidase A deficiency: Fabry disease. In: The metabolic
and molecular bases of inherited disease. Scriver CR, Beaudet AL,
Sly WS, Valle D, Childs B, Kinzler KW and Vogelstein B (eds).
McGraw Hill, New York, NY, pp3733-3774, 2001.
|
|
8
|
Gal A: Molecular genetics of Fabry disease
and genotype-phenotype correlation. In: Fabry disease. Elstein D,
Altarescu G and Beck M (eds). Springer, Dordrecht, pp3-19,
2010.
|
|
9
|
Miller JJ, Kanack AJ and Dahms NM:
Progress in the understanding and treatment of Fabry disease.
Biochim Biophys Acta, Gen Subj. 129437(2020)1864.PubMed/NCBI View Article : Google Scholar
|
|
10
|
Saito S, Ohno K and Sakuraba H: urihttp://Fabry-database.orgsimpleFabry-database.org.
Database of the clinical phenotypes, genotypes and mutant
α-galactosidase A structures in Fabry disease. J Hum Genet.
56:467–468. 2011.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Oliveira JP and Ferreira S: Multiple
phenotypic domains of Fabry disease and their relevance for
establishing genotype- phenotype correlations. Appl Clin Genet.
12:35–50. 2019.PubMed/NCBI View Article : Google Scholar
|
|
12
|
Cocozza S, Russo C, Pontillo G, Pisani A
and Brunetti A: Neuroimaging in Fabry disease: Current knowledge
and future directions. Insights Imaging. 9:1077–1088.
2018.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Cairns T, Müntze J, Gernert J, Spingler L,
Nordbeck P and Wanner C: Hot topics in Fabry disease. Postgrad Med
J. 94:709–713. 2018.PubMed/NCBI View Article : Google Scholar
|
|
14
|
Cuestas D, Perafan A, Forero Y, Bonilla J,
Velandia A, Gutierrez A, Motta A, Herrera H and Rolon M:
Angiokeratomas, not everything is Fabry disease. Int J Dermatol.
58:713–721. 2019.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Zarate YA and Hopkin RJ: Fabry's disease.
Lancet. 372:1427–1435. 2008.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Körver S, Geurtsen GJ, Hollak CE, van
Schaik IN, Longo MG, Lima MR, Vedolin L, Dijkgraaf MG and Langeveld
M: Depressive symptoms in Fabry disease: The importance of coping,
subjective health perception and pain. Orphanet J Rare Dis.
15(28)2020.PubMed/NCBI View Article : Google Scholar
|
|
17
|
Schiffmann R: Fabry disease. Handb Clin
Neurol. 132:231–248. 2015.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Ortiz A, Germain DP, Desnick RJ, Politei
J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, et al:
Fabry disease revisited: Management and treatment recommendations
for adult patients. Mol Genet Metab. 123:416–427. 2018.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Germain DP, Elliott PM, Falissard B, Fomin
VV, Hilz MJ, Jovanovic A, Kantola I, Linhart A, Mignani R, Namdar
M, et al: The effect of enzyme replacement therapy on clinical
outcomes in male patients with Fabry disease: A systematic
literature review by a European panel of experts. Mol Genet Metab
Rep. 19(100454)2019.PubMed/NCBI View Article : Google Scholar
|
|
20
|
McCafferty EH and Scott LJ: Migalastat: A
review in Fabry disease. Drugs. 79:543–554. 2019.PubMed/NCBI View Article : Google Scholar
|
|
21
|
Del Pino M, Andrés A, Bernabéu AA, de
Juan-Rivera J, Fernández E, de Dios García Díaz J, Hernández D,
Luño J, Fernández IM, Paniagua J, et al: Fabry Nephropathy: An
evidence-based narrative review. Kidney Blood Press Res.
43:406–421. 2018.PubMed/NCBI View Article : Google Scholar
|
|
22
|
Müntze J, Gensler D, Maniuc O, Liu D,
Cairns T, Oder D, Hu K, Lorenz K, Frantz S, Wanner C, et al: Oral
chaperone therapy migalastat for treating Fabry disease: Enzymatic
response and serum biomarker changes after 1 year. Clin Pharmacol
Ther. 105:1224–1233. 2019.PubMed/NCBI View Article : Google Scholar
|
|
23
|
Trinklein ND, Aldred SF, Hartman SJ,
Schroeder DI, Otillar RP and Myers RM: An abundance of
bidirectional promoters in the human genome. Genome Res. 14:62–66.
2004.PubMed/NCBI View Article : Google Scholar
|
|
24
|
Dash A, Gurdaswani V, D'Souza JS and Ghag
SB: Functional characterization of an inducible bidirectional
promoter from Fusarium oxysporum f. sp. cubense. Sci Rep.
10(2323)2020.PubMed/NCBI View Article : Google Scholar
|
|
25
|
Orekhova AS and Rubtsov PM: Bidirectional
promoters in the transcription of mammalian genomes. Biochemistry
(Mosc). 78:335–341. 2013.PubMed/NCBI View Article : Google Scholar
|
|
26
|
Li YY, Yu H, Guo ZM, Guo TQ, Tu K and Li
YX: Systematic analysis of head-to-head gene organization:
Evolutionary conservation and potential biological relevance. PLOS
Comput Biol. 2(e74)2006.PubMed/NCBI View Article : Google Scholar
|
|
27
|
Anno YN, Myslinski E, Ngondo-Mbongo RP,
Krol A, Poch O, Lecompte O and Carbon P: Genome-wide evidence for
an essential role of the human Staf/ZNF143 transcription factor in
bidirectional transcription. Nucleic Acids Res. 39:3116–3127.
2011.PubMed/NCBI View Article : Google Scholar
|
|
28
|
Davuluri RV, Suzuki Y, Sugano S, Plass C
and Huang TH: The functional consequences of alternative promoter
use in mammalian genomes. Trends Genet. 24:167–177. 2008.PubMed/NCBI View Article : Google Scholar
|
|
29
|
Yang MQ and Elnitski LL: Diversity of core
promoter elements comprising human bidirectional promoters. BMC
Genomics. 9 (Suppl 2)(S3)2008.PubMed/NCBI View Article : Google Scholar
|
|
30
|
Germot A and Maftah A: POFUT1 and PLAGL2
gene pair linked by a bidirectional promoter: The two in one of
tumour progression in colorectal cancer? EBioMedicine. 46:25–26.
2019.PubMed/NCBI View Article : Google Scholar
|
|
31
|
Li D, Lin C, Li N, Du Y, Yang C, Bai Y,
Feng Z, Su C, Wu R, Song S, et al: PLAGL2 and POFUT1 are regulated
by an evolutionarily conserved bidirectional promoter and are
collaboratively involved in colorectal cancer by maintaining
stemness. EBioMedicine. 45:124–138. 2019.PubMed/NCBI View Article : Google Scholar
|
|
32
|
Drak Alsibai K, Vacher S, Meseure D,
Nicolas A, Lae M, Schnitzler A, Chemlali W, Cros J, Longchampt E,
Cacheux W, et al: High positive correlations between ANRIL and
p16-CDKN2A/p15-CDKN2B/p14-ARF gene cluster overexpression in
multi-tumor types suggest deregulated activation of an ANRIL-ARF
bidirectional promoter. Noncoding RNA. 5(44)2019.PubMed/NCBI View Article : Google Scholar
|
|
33
|
Al-Obaide MA, Alobydi H, Abdelsalam AG,
Zhang R and Srivenugopal KS: Multifaceted roles of 5'-regulatory
region of the cancer associated gene B4GALT1 and its comparison
with the gene family. Int J Oncol. 47:1393–1404. 2015.PubMed/NCBI View Article : Google Scholar
|
|
34
|
Scimone C, Bramanti P, Ruggeri A, Donato
L, Alafaci C, Crisafulli C, Mucciardi M, Rinaldi C, Sidoti A and
D'Angelo R: CCM3/SERPINI1 bidirectional promoter variants in
patients with cerebral cavernous malformations: A molecular and
functional study. BMC Med Genet. 17(74)2016.PubMed/NCBI View Article : Google Scholar
|
|
35
|
Aziz HA, Abdel-Salam AG, Al-Obaide MAI,
Alobydi HW and Al-Humaish S: Kynurenine 3-monooxygenase gene
associated with nicotine initiation and addiction: Analysis of
novel regulatory features at 5' and 3'-regions. Front Genet.
9(198)2018.PubMed/NCBI View Article : Google Scholar
|
|
36
|
Hossain MA, Yanagisawa H, Miyajima T, Wu
C, Takamura A, Akiyama K, Itagaki R, Eto K, Iwamoto T, Yokoi T, et
al: The severe clinical phenotype for a heterozygous Fabry female
patient correlates to the methylation of non-mutated allele
associated with chromosome 10q26 deletion syndrome. Mol Genet
Metab. 120:173–179. 2017.PubMed/NCBI View Article : Google Scholar
|
|
37
|
Khan A, Fornes O, Stigliani A, Gheorghe M,
Castro-Mondragon JA, van der Lee R, Bessy A, Chèneby J, Kulkarni
SR, Tan G, et al: JASPAR 2018: Update of the open-access database
of transcription factor binding profiles and its web framework.
Nucleic Acids Res. 46:D260–D266. 2018.PubMed/NCBI View Article : Google Scholar
|
|
38
|
Fornes O, Castro-Mondragon JA, Khan A, van
der Lee R, Zhang X, Richmond PA, Modi BP, Correard S, Gheorghe M,
Baranašić D, et al: JASPAR 2020: Update of the open-access database
of transcription factor binding profiles. Nucleic Acids Res.
48:D87–D92. 2020.PubMed/NCBI View Article : Google Scholar
|
|
39
|
Li LC and Dahiya R: MethPrimer: Designing
primers for methylation PCRs. Bioinformatics. 18:1427–1431.
2002.PubMed/NCBI View Article : Google Scholar
|
|
40
|
Livak KJ and Schmittgen TD: Analysis of
relative gene expression data using real-time quantitative PCR and
the 2(-Delta Delta C(T)) method. Methods. 25:402–408.
2001.PubMed/NCBI View Article : Google Scholar
|
|
41
|
Udvardi MK, Czechowski T and Scheible WR:
Eleven golden rules of quantitative RT-PCR. Plant Cell.
20:1736–1737. 2008.PubMed/NCBI View Article : Google Scholar
|
|
42
|
Ng EK, Leung CP, Shin VY, Wong CL, Ma ES,
Jin HC, Chu KM and Kwong A: Quantitative analysis and diagnostic
significance of methylated SLC19A3 DNA in the plasma of breast and
gastric cancer patients. PLoS One. 6(e22233)2011.PubMed/NCBI View Article : Google Scholar
|
|
43
|
Eads CA, Danenberg KD, Kawakami K, Saltz
LB, Blake C, Shibata D, Danenberg PV and Laird PW: MethyLight: A
high-throughput assay to measure DNA methylation. Nucleic Acids
Res. 28(E32)2000.PubMed/NCBI View Article : Google Scholar
|
|
44
|
Roberts TC, Hart JR, Kaikkonen MU,
Weinberg MS, Vogt PK and Morris KV: Quantification of nascent
transcription by bromouridine immunocapture nuclear run-on RT-qPCR.
Nat Protoc. 10:1198–1211. 2015.PubMed/NCBI View Article : Google Scholar
|
|
45
|
MacDermot KD, Holmes A and Miners AH:
Anderson-Fabry disease: Clinical manifestations and impact of
disease in a cohort of 98 hemizygous males. J Med Genet.
38:750–760. 2001.PubMed/NCBI View Article : Google Scholar
|
|
46
|
Löhle M, Hughes D, Milligan A, Richfield
L, Reichmann H, Mehta A and Schapira AH: Clinical prodromes of
neurodegeneration in Anderson-Fabry disease. Neurology.
84:1454–1464. 2015.PubMed/NCBI View Article : Google Scholar
|
|
47
|
Ries M, Ramaswami U, Parini R, Lindblad B,
Whybra C, Willers I, Gal A and Beck M: The early clinical phenotype
of Fabry disease: A study on 35 European children and adolescents.
Eur J Pediatr. 162:767–772. 2003.PubMed/NCBI View Article : Google Scholar
|
|
48
|
Ramaswami U, Whybra C, Parini R,
Pintos-Morell G, Mehta A, Sunder-Plassmann G, Widmer U and Beck M:
FOS European Investigators. Clinical manifestations of Fabry
disease in children: Data from the Fabry Outcome Survey. Acta
Paediatr. 95:86–92. 2006.PubMed/NCBI View Article : Google Scholar
|
|
49
|
Ramaswami U, Parini R, Pintos-Morell G,
Kalkum G, Kampmann C, Beck M and Investigators FOS: FOS
Investigators. Fabry disease in children and response to enzyme
replacement therapy: Results from the Fabry Outcome Survey. Clin
Genet. 81:485–490. 2012.PubMed/NCBI View Article : Google Scholar
|
|
50
|
Magg B, Riegler C, Wiedmann S, Heuschmann
P, Sommer C and Üçeyler N: Self-administered version of the
Fabry-associated pain questionnaire for adult patients. Orphanet J
Rare Dis. 10(113)2015.PubMed/NCBI View Article : Google Scholar
|
|
51
|
Gibas AL, Klatt R, Johnson J, Clarke JT
and Katz J: A survey of the pain experienced by males and females
with Fabry disease. Pain Res Manag. 11:185–192. 2006.PubMed/NCBI View Article : Google Scholar
|
|
52
|
Crosbie TW, Packman W and Packman S:
Psychological aspects of patients with Fabry disease. J Inherit
Metab Dis. 32:745–753. 2009.PubMed/NCBI View Article : Google Scholar
|
|
53
|
Donaldson LF and Beazley-Long N:
Alternative RNA splicing: Contribution to pain and potential
therapeutic strategy. Drug Discov Today. 21:1787–1798.
2016.PubMed/NCBI View Article : Google Scholar
|
|
54
|
de la Peña JB and Campbell ZT: RNA-binding
proteins as targets for pain therapeutics. Neurobiol Pain. 4:2–7.
2018.PubMed/NCBI View Article : Google Scholar
|
|
55
|
Song KY, Choi HS, Law PY, Wei LN and Loh
HH: Post-transcriptional regulation of mu-opioid receptor: Role of
the RNA-binding proteins heterogeneous nuclear ribonucleoprotein H1
and F. Cell Mol Life Sci. 69:599–610. 2012.PubMed/NCBI View Article : Google Scholar
|
|
56
|
Alkan SA, Martincic K and Milcarek C: The
hnRNPs F and H2 bind to similar sequences to influence gene
expression. Biochem J. 393:361–371. 2006.PubMed/NCBI View Article : Google Scholar
|
|
57
|
Dvinge H: Regulation of alternative mRNA
splicing: Old players and new perspectives. FEBS Lett.
592:2987–3006. 2018.PubMed/NCBI View Article : Google Scholar
|
|
58
|
Li P, Zhang L, Zhao N, Xiong Q, Zhou YA,
Wu C and Xiao H: A Novel α-galactosidase a splicing mutation
predisposes to fabry disease. Front Genet. 10(60)2019.PubMed/NCBI View Article : Google Scholar
|
|
59
|
Chang WH, Niu DM, Lu CY, Lin SY, Liu TC
and Chang JG: Modulation the alternative splicing of GLA
(IVS4+919G>A) in Fabry disease. PLoS One.
12(e0175929)2017.PubMed/NCBI View Article : Google Scholar
|
|
60
|
Ishii S, Nakao S, Minamikawa-Tachino R,
Desnick RJ and Fan JQ: Alternative splicing in the
alpha-galactosidase A gene: Increased exon inclusion results in the
Fabry cardiac phenotype. Am J Hum Genet. 70:994–1002.
2002.PubMed/NCBI View
Article : Google Scholar
|
|
61
|
Lev Maor G, Yearim A and Ast G: The
alternative role of DNA methylation in splicing regulation. Trends
Genet. 31:274–280. 2015.PubMed/NCBI View Article : Google Scholar
|
|
62
|
Wang RY, Lelis A, Mirocha J and Wilcox WR:
Heterozygous Fabry women are not just carriers, but have a
significant burden of disease and impaired quality of life. Genet
Med. 9:34–45. 2007.PubMed/NCBI View Article : Google Scholar
|
|
63
|
Weingarten-Gabbay S, Nir R, Lubliner S,
Sharon E, Kalma Y, Weinberger A and Segal E: Systematic
interrogation of human promoters. Genome Res. 29:171–183.
2019.PubMed/NCBI View Article : Google Scholar
|
|
64
|
Jangid RK, Kelkar A, Muley VY and Galande
S: Bidirectional promoters exhibit characteristic chromatin
modification signature associated with transcription elongation in
both sense and antisense directions. BMC Genomics.
19(313)2018.PubMed/NCBI View Article : Google Scholar
|
