1
|
Batlle A: Porfirias humanas. Signos y
tratamientos. En Porfirias y porfirinas. Aspectos clínicos,
bioquímicos y biología molecular. Editorial Federación Bioquímica
de la Provincia de Buenos Aires, La Plata, ISSN 0325-2957. Acta
Bioquím Clín Latinoam Supl. 3:37–69. 1997.(In Spanish).
|
2
|
Rossetti MV, Buzaleh AM, Parera VE, Fukuda
H, Lombardo ME, Lavandera J, Gerez EN, Melito VA, Zuccoli JR,
Ruspini SV, et al: Metabolismo del Hemo: Las dos caras de los
efectos de la acumulación de precursores y porfirinas. Acta Bioquim
Clin Latinoamer Libro de Oro. 50:547–573. 2016.(In Spanish).
|
3
|
Méndez M, Rossetti MV, Gómez-Abecia S,
Morán-Jiménez MJ, Parera V, Batlle A and Enríquez de Salamanca R:
Molecular analysis of the UROD gene in 17 Argentinean patients with
familial porphyria cutanea tarda: Characterization of four novel
mutations. Mol Genet Metab. 105:629–633. 2012.PubMed/NCBI View Article : Google Scholar
|
4
|
Phillips JD: Heme biosynthesis and the
porphyrias. Mol Genet Metab. 128:164–177. 2019.PubMed/NCBI View Article : Google Scholar
|
5
|
Weiss Y, Chen B, Yasuda M, Nazarenko I,
Anderson KE and Desnick RJ: Porphyria cutanea tarda and
hepatoerythropoietic porphyria: Identification of 19 novel
uroporphyrinogen III decarboxylase mutations. Mol Genet Metab.
128:282–287. 2019.PubMed/NCBI View Article : Google Scholar
|
6
|
Jalil S, Grady JJ, Lee C and Anderson KE:
Associations among behavior-related susceptibility factors in
porphyria cutanea tarda. Clin Gastroenterol Hepatol. 8:297–302.e1.
2010.PubMed/NCBI View Article : Google Scholar
|
7
|
Singal AK, Venkata KVR, Jampana S, Islam
FU and Anderson KE: Hepatitis C treatment in patients with
porphyria Cutanea Tarda. Am J Med Sci. 353:523–528. 2017.PubMed/NCBI View Article : Google Scholar
|
8
|
To-Figueras J: Association between
hepatitis C virus and porphyria Cutanea Tarda. Mol Genet Metab.
128:363–366. 2019.PubMed/NCBI View Article : Google Scholar
|
9
|
Ryan Caballes F, Sendi H and Bonkovsky HL:
Hepatitis C, porphyria cutanea tarda, and liver iron: An update.
Liver Int. 32:880–893. 2012.PubMed/NCBI View Article : Google Scholar
|
10
|
Usta Atmaca H and Akbas F: Porphyria
cutanea tarda: A case report. J Med Case Rep. 13(17)2019.PubMed/NCBI View Article : Google Scholar
|
11
|
Franzon VA, Mikilita ES, Camelo FH and
Camargo R: Porphyria cutanea tarda in a HIV-positive patient. An
Bras Dermatol. 91:520–523. 2016.PubMed/NCBI View Article : Google Scholar
|
12
|
Melito VA, Parera VE, Rossetti MV and
Batlle A: Manifestación de porfiria cutánea tardía en pacientes
infectados con el virus de la inmunodeficiencia humana. Acta
Bioquím Clín Latinoamer. 40:29–34. 2006.
|
13
|
Jalil SJ, Grady JJ, Lee C and Anderson KE:
Associations among behavior-related susceptibility factors in
porphyria cutanea tarda. Clin Gastroenterol Hepatol. 8(3):297–302.
2010.PubMed/NCBI View Article : Google Scholar
|
14
|
Aguilera P, Laguno M and To-Figueras J:
Human immunodeficiency virus and risk of porphyria Cutanea Tarda: A
possible association examined in a large hospital. Photodermatol
Photoimmunol Photomed. 32:93–97. 2016.PubMed/NCBI View Article : Google Scholar
|
15
|
Hoffmeyer S, Burk O, von Richter O, Arnold
HP, Brockmöller J, Johne A, Cascorbi I, Gerloff T, Roots I,
Eichelbaum M and Brinkmann U: Functional polymorphisms of the human
multidrug-resistance gene: Multiple sequence variations and
correlation of one allele with P-glycoprotein expression and
activity in vivo. Proc Natl Acad Sci USA. 97:3473–3478.
2000.PubMed/NCBI View Article : Google Scholar
|
16
|
Fung K and Gottesman M: A synonymous
polymorphism in a common MDR1 (ABCB1) haplotype shapes protein
function. Biochim Biophys Acta. 1794:860–871. 2009.PubMed/NCBI View Article : Google Scholar
|
17
|
Brambila-Tapia AJ: MDR1 (ABCB1)
polymorphisms: Functional effects and clinical implications. Rev
Invest Clin. 65:445–454. 2013.PubMed/NCBI
|
18
|
Yano K, Tomono T and Ogihara T: Advances
in studies of P-Glycoprotein and its expression regulators. Biol
Pharm Bull. 41:11–19. 2018.PubMed/NCBI View Article : Google Scholar
|
19
|
Arana MR and Altenberg GA: ATP-binding
cassette exporters: Structure and mechanism with a focus on
P-glycoprotein and MRP1. Curr Med Chem. 26:1062–1078.
2019.PubMed/NCBI View Article : Google Scholar
|
20
|
Wielandt AM, Vollrath V and Chianale J:
Polymorphisms of the multiple drug resistance gene (MDR1) in
Mapuche, Mestizo and Maori populations in Chile. Rev Med Chil.
132:1061–1068. 2004.PubMed/NCBI View Article : Google Scholar : (In Spanish).
|
21
|
Thuerauf N and Fromm MF: The role of the
transporter P-glycoprotein for disposition and effects of centrally
acting drugs and for the pathogenesis of CNS diseases. Eur Arch
Psychiatry Clin Neurosci. 256:281–286. 2006.PubMed/NCBI View Article : Google Scholar
|
22
|
Fathy M, Kamal M, Mohy A and Nabil A:
Impact of CYP3A5 and MDR-1 gene polymorphisms on the dose and level
of tacrolimus among living-donor liver transplanted patients:
Single center experience. Biomarkers. 21:335–341. 2016.PubMed/NCBI View Article : Google Scholar
|
23
|
Marzolini C, Paus E, Buclin T and Kim RB:
Polymorphisms in human MDR1 (Pglycoprotein): Recent advances and
clinical relevance. Clin Pharmacol Ther. 75:13–33. 2004.PubMed/NCBI View Article : Google Scholar
|
24
|
Sharom FJ: ABC multidrug transporters:
Structure, function and role in chemoresistance. Pharmacogenomics.
9:105–127. 2008.PubMed/NCBI View Article : Google Scholar
|
25
|
Bellusci CP, Rocco C, Aulicino P,
Mecikovsky D, Curras V, Hegoburu S, Bramuglia GF, Bologna R, Sen L
and Mangano A: Influence of MDR1 C1236T polymorphism on lopinavir
plasma concentration and virological response in HIV-1-infected
children. Gene. 522:96–101. 2013.PubMed/NCBI View Article : Google Scholar
|
26
|
Yan Y, Liang H, Xie L, He Y, Li M, Li R,
Li S and Qin X: Association of MDR1 G2677T polymorphism and
leukemia risk: Evidence from a meta-analysis. Tumour Biol.
35:2191–2197. 2014.PubMed/NCBI View Article : Google Scholar
|
27
|
Strange RC, Spiteri MA, Ramachandran S and
Fryer AA: Glutathione-S-transferase family of enzymes. Mutat Res.
482:21–26. 2001.PubMed/NCBI View Article : Google Scholar
|
28
|
Hayes JD, Flanagan JU and Jowsey IR:
Glutathione transferases. Ann Rev Pharmacol Toxicol. 45:51–88.
2005.PubMed/NCBI View Article : Google Scholar
|
29
|
Schnekenburger M, Karius T and Diederich
M: Regulation of epigenetic traits of the glutathione S-transferase
P1 gene: From detoxification toward cancer prevention and
diagnosis. Front Pharmacol. 16(170)2014.PubMed/NCBI View Article : Google Scholar
|
30
|
Weich N, Ferri C, Moiraghi B, Bengió R,
Giere I, Pavlovsky C, Larripa IB and Fundia AF: GSTM1 and GSTP1,
but not GSTT1 genetic polymorphisms are associated with chronic
myeloid leukemia risk and treatment response. Cancer Epidemiol.
44:16–21. 2016.PubMed/NCBI View Article : Google Scholar
|
31
|
Brind AM, Hurlstone A, Edrisinghe D,
Gilmore I, Fisher N, Pirmohamed M and Fryer AA: The role of
polymorphisms of glutathione S-transferases GSTM1, M3, P1, T1 and
A1 in susceptibility to alcoholic liver disease. Alcohol Alcohol.
39:478–483. 2004.PubMed/NCBI View Article : Google Scholar
|
32
|
Bowatte G, Lodge CJ, Perret JL, Matheson
MC and Dharmage SC: Interactions of GST polymorphisms in air
pollution exposure and respiratory diseases and allergies. Curr
Allergy Asthma Rep. 16(85)2016.PubMed/NCBI View Article : Google Scholar
|
33
|
Singh HO, Lata S, Angadi M, Bapat S, Pawar
J, Nema V, Ghate MV, Sahay S and Gangakhedkar RR: Impact of GSTM1,
GSTT1 and GSTP1 gene polymorphism and risk of ARV-associated
hepatotoxicity in HIV-infected individuals and its modulation.
Pharmacogenomics J. 17:53–60. 2017.PubMed/NCBI View Article : Google Scholar
|
34
|
WMA Declaration of Helsinki-Ethical
Principles for Medical Research Involving Human Subjects. World
Medical Association: July 9, 2018 (urihttps://www.wma.net/policies-post/wma-declaration-of-helsinki-ethical-principles-for-medical-research-involving-human-subjectssimplehttps://www.wma.net/policies-post/wma-declaration-of-helsinki-ethical-principles-for-medical-research-involving-human-subjects).
|
35
|
Kim HJ, Hwang SY, Kim JH, Park HJ, Lee SG,
Lee SW, Joo JC and Kim YK: Association between genetic polymorphism
of multidrug resistance 1 gene and Sasang constitutions. Evid Based
Complement Alternat Med. 6 (Suppl 1):S73–S80. 2009.PubMed/NCBI View Article : Google Scholar
|
36
|
Taheri M, Mahjoubi F and Omranipour R:
Effect of MDR1 polymorphism on multidrug resistance expression in
breast cancer patients. Gen Mol Res. 9:34–40. 2010.PubMed/NCBI View Article : Google Scholar
|
37
|
Zuccoli J, Melito V, Ruspini S, Lavandera
J, Abelleyro M, Parera V, Rossetti MV, Batlle A and Buzaleh AM:
Análisis de polimorfismos del exón 21 del gen MDR1 en la asociación
Porfiria Cutánea Tardia-VIH. J Basic Appl Genetics. 25(278)2014.(In
Spanish).
|
38
|
Solé X, Guinó E, Valls J, Iniesta R and
Moreno V: SNPStats: A web tool for the analysis of association
studies. Bioinformatics. 22:1928–1929. 2006.PubMed/NCBI View Article : Google Scholar
|
39
|
Moher D, Liberati A, Tetzlaff J and Altman
DG: Preferred reporting items for systematic reviews and
meta-analyses: The PRISMA Statement. PLoS Med.
6(e1000097)2009.PubMed/NCBI View Article : Google Scholar
|
40
|
Conde Almeida AC, Tadeu Villa R and Bedin
V: Porfiria cutánea tarda no paciente infectado pelo vírus da
imunodeficiência adquirida. Med Cutan Iber Lat Am. 38:91–93.
2010.
|
41
|
Quansah R, Cooper CJ, Said S, Bizet J,
Paez D and Hernandez GT: Hepatitis C- and HIV-induced porphyria
Cutanea Tarda. Am J Case Rep. 15:35–40. 2014.PubMed/NCBI View Article : Google Scholar
|
42
|
Farabaugh PJ and Björk G: How
translational accuracy influences reading frame maintenance. EMBO
J. 18:1427–1434. 1999.PubMed/NCBI View Article : Google Scholar
|
43
|
Kimchi-Sarfaty V, Oh J, Kim I, Sauna Z,
Calcagno A, Ambudkar S and Gottesman MA: ‘Silent’ polymorphism in
the MDR1 gene changes substrate specificity. Science. 315:525–528.
2007.PubMed/NCBI View Article : Google Scholar
|
44
|
Wen J and Brogna S: Nonsense-mediated mRNA
decay. Biochem Soc Trans. 36:514–516. 2008.PubMed/NCBI View Article : Google Scholar
|
45
|
Kong LL, Zhuang XM, Yang HY, Yuan M, Xu L
and Li H: Inhibition of P-glycoprotein gene expression and function
enhances triptolide-induced hepatotoxicity in mice. Sci Rep.
5(11747)2015.PubMed/NCBI View Article : Google Scholar
|
46
|
Sakurai A, Onishi Y, Hirano H, Seigneuret
M, Obanayama K, Kim G, Liew E, Sakaeda T, Yoshiura K, Niikawa N, et
al: Quantitative Structure-activity relationship analysis and
molecular dynamics simulation to functionally validate
nonsynonymous polymorphisms of human ABC Transporter ABCB1
(P-Glycoprotein/MDR1). Biochemistry. 46:7678–7693. 2007.PubMed/NCBI View Article : Google Scholar
|
47
|
Ozdemir S, Uludag A, Silan F, Atik SY,
Turgut B and Ozdemir O: Possible roles of the xenobiotic
transporter P-glycoproteins encoded by the MDR1 3435 C>T gene
polymorphism in differentiated thyroid cancers. Asian Pac J Cancer
Prev. 14:3213–7321. 2013.PubMed/NCBI View Article : Google Scholar
|
48
|
Muralidharan N, Antony PT, Jain VK,
Mariaselvam CM and Negi VS: Multidrug resistance 1 (MDR1)
3435C>T gene polymorphism influences the clinical phenotype and
methotrexate-induced adverse events in South Indian Tamil
rheumatoid arthritis. Eur J Clin Pharmacol. 71:959–965.
2015.PubMed/NCBI View Article : Google Scholar
|
49
|
Puoti M, Moioli MC, Travi G and Rossotti
R: The burden of liver disease in human immunodeficiency
virus-infected patients. Semin Liver Dis. 32:103–113.
2012.PubMed/NCBI View Article : Google Scholar
|
50
|
Debes JD, Bohjanen PR and Boonstra A:
Mechanisms of accelerated liver fibrosis progression during HIV
infection. J Clin Transl Hepatol. 4:328–335. 2016.PubMed/NCBI View Article : Google Scholar
|
51
|
Ganesan M, Poluektova LY, Kharbanda KK and
Osna NA: Liver as a target of human immunodeficiency virus
infection. World J Gastroenterol. 24:4728–4737. 2018.PubMed/NCBI View Article : Google Scholar
|
52
|
Ganesan M, New-Aaron M, Dagur RS, Makarov
E, Wang W, Kharbanda KK, Kidambi S, Poluektova LY and Osna NA:
Alcohol Metabolism potentiates HIV-induced hepatotoxicity:
Contribution to End-stage liver disease. Biomolecules.
9(851)2019.PubMed/NCBI View Article : Google Scholar
|
53
|
Bhattacharjee P, Paul S, Banerjee M, Patra
D, Banerjee P, Ghoshal N, Bandyopadhyay A and Giri AK: Functional
compensation of glutathione S-transferase M1 (GSTM1) null by
another GST superfamily member, GSTM2. Sci Rep.
3(2704)2013.PubMed/NCBI View Article : Google Scholar
|
54
|
Doukali H, Ben Salah G, Hamdaoui L,
Hajjaji M, Tabebi M, Ammar-Keskes L, Masmoudi ME and Kamoun H:
Oxidative stress and glutathione S-transferase genetic
polymorphisms in medical staff professionally exposed to ionizing
radiation. Int J Radiat Biol. 93:697–704. 2017.PubMed/NCBI View Article : Google Scholar
|
55
|
Datta SK, Kumar V, Pathak R, Tripathi AK,
Ahmed RS, Kalra OP and Banerjee BD: Association of glutathione
S-transferase M1 and T1 gene polymorphism with oxidative stress in
diabetic and nondiabetic chronic kidney disease. Ren Fail.
32:1189–1195. 2010.PubMed/NCBI View Article : Google Scholar
|
56
|
Suvakov S, Damjanovic T, Stefanovic A,
Pekmezovic T, Savic-Radojevic A, Pljesa-Ercegovac M, Matic M,
Djukic T, Coric V, Jakovljevic J, et al: Glutathione S-transferase
A1, M1, P1 and T1 null or low-activity genotypes are associated
with enhanced oxidative damage among haemodialysis patients.
Nephrol Dial Transplant. 28:202–212. 2013.PubMed/NCBI View Article : Google Scholar
|
57
|
Mhaidat N, Alshogran O, Khabour O, Alzoubi
K, Matalka I, Haddadin W, Mahasneh I and Aldaher A: Multi-drug
resistance 1 genetic polymorphism and prediction of chemotherapy
response in Hodgkin's Lymphoma. J Exp Clin Cancer Res.
30(68)2011.PubMed/NCBI View Article : Google Scholar
|
58
|
Milojkovic M, Stojnev S, Jovanovic I,
Ljubisavljevic S, Stefanovic V and Sunder-Plassman R: Frequency of
the C1236T, G2677T/A and C3435T MDR1 gene polymorphisms in the
Serbian population. Pharmacol Rep. 63:808–814. 2011.PubMed/NCBI View Article : Google Scholar
|
59
|
Komoto C, Nakamura T, Sakaeda T, Kroetz
DL, Yamada T, Omatsu H, Koyama T, Okamura N, Miki I, Tamura T, et
al: MDR1 haplotype frequencies in Japanese and Caucasian, and in
Japanese patients with colorectal cancer and esophageal cancer.
Drug Metab Pharmacokinet. 21:126–132. 2006.PubMed/NCBI View Article : Google Scholar
|
60
|
Weich N, Roisman A, Cerliani B, Aráoz HV,
Chertkoff L, Richard SM, Slavutsky I, Larripa IB and Fundia AF:
Gene polymorphism profiles of drug-metabolising enzymes GSTM1,
GSTT1 and GSTP1 in an Argentinian population. Ann Hum Biol.
44:379–383. 2017.PubMed/NCBI View Article : Google Scholar
|
61
|
Rossini A, Rapozo D, Amorim L, Macedo J,
Medina R, Neto J, Gallo C and Pinto L: Frequencies of GSTM1, GSTT1,
and GSTP1polymorphisms in a Brazilian population. Genet Mol Res.
1:233–240. 2002.PubMed/NCBI
|
62
|
Pinheiro D, Santos R, Brito R, Cruz A,
Ghedini P and Reis A: GSTM1/GSTT1 double-null genotype increases
risk of treatment-resistant schizophrenia: A genetic association
study in Brazilian patients. PLoS One. 12(e0183812)2017.PubMed/NCBI View Article : Google Scholar
|
63
|
Klusek J, Nasierowska-Guttmejer A, Kowalik
A, Wawrzycka I, Lewitowicz P, Chrapek M and Głuszek S: GSTM1,
GSTT1, and GSTP1 polymorphisms and colorectal cancer risk in Polish
nonsmokers. Oncotarget. 9:21224–21230. 2018.PubMed/NCBI View Article : Google Scholar
|
64
|
Srivastava DSL, Jain VK, Verma P and Yadav
JP: Polymorphism of glutathione S-transferase M1 and T1 genes and
susceptibility to psoriasis disease: A study from North India.
Indian J Dermatol Venereol Leprol. 84:39–44. 2018.PubMed/NCBI View Article : Google Scholar
|
65
|
Stamenkovic M, Lukic V, Suvakov S, Simic
T, Sencanic I, Pljesa-Ercegovac M, Jaksic V, Babovic S, Matic M,
Radosavljevic A, et al: GSTM1-null and GSTT1-active genotypes as
risk determinants of primary open angle glaucoma among smokers. Int
J Ophthalmol. 11:1514–1520. 2018.PubMed/NCBI View Article : Google Scholar
|
66
|
ThekkePurakkal AS, Nicolau B, Burk RD,
Franco EL and Schlecht NF: Genetic variants in CYP and GST genes,
smoking and risk for head and neck cancers: A gene-environment
interaction hospital-based case-control study among Canadian
Caucasians. Carcinogenesis: Apr 2, 2019 doi: 10.1093/carcin/bgz051
(Epub ahead of print).
|
67
|
Musavi Z, Moasser E, Zareei N, Azarpira N
and Shamsaeefar A: Glutathione S-transferase gene polymorphisms and
the development of new-onset diabetes after liver transplant. Exp
Clin Transplant. 17:375–380. 2019.PubMed/NCBI View Article : Google Scholar
|
68
|
Zehra A, Zehra S, Ismail M and Azhar A:
Glutathione S-transferase M1 and T1 gene deletions and
susceptibility to acute lymphoblastic leukemia (ALL) in adults. Pak
J Med Sci. 34:666–670. 2018.PubMed/NCBI View Article : Google Scholar
|
69
|
Saravani S, Miri-Moghaddam M, Bazi A and
Miri-Moghaddam E: Association of glutathione-S-transferases M1 and
T1 deletional variants with development of oral squamous cell
carcinoma: A study in the South-East of Iran. Asian Pac J Cancer
Prev. 20:1921–1926. 2019.PubMed/NCBI View Article : Google Scholar
|
70
|
Farmohammadi A, Arab-Yarmohammadi V and
Ramzanpour R: Association analysis of rs1695 and rs1138272
variations in GSTP1 gene and breast cancer susceptibility. Asian
Pac J Cancer Prev. 21:1167–1172. 2020.PubMed/NCBI View Article : Google Scholar
|
71
|
Oshodi Y, Ojewunmi O, Oshodi TA, Ijarogbe
GT, Ogun OC, Aina OF and Lesi F: Oxidative stress markers and
genetic polymorphisms of glutathione S-transferase T1, M1, and P1
in a subset of children with autism spectrum disorder in Lagos,
Nigeria. Niger J Clin Pract. 20:1161–1167. 2017.PubMed/NCBI View Article : Google Scholar
|
72
|
Idris HM, Elderdery AY, Khalil HB and
Mills J: Genetic Polymorphism of GSTP1, GSTM1 and GSTT1 genes and
susceptibility to chronic myeloid leukaemia. Asian Pac J Cancer
Prev. 21:499–503. 2020.PubMed/NCBI View Article : Google Scholar
|
73
|
Rebai A, Chbili C, Ben Amor S, Hassine A,
Ben Ammou S and Saguem S: Effects of glutathione S-transferase M1
and T1 deletions on Parkinson's disease risk among a North African
population. Rev Neurol (Paris): Apr 29, 2020 (Epub ahead of
print).
|