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Items: 1 to 50 of 106

1.

Evidence for miR-548c-5p regulation of FOXC2 transcription through a distal genomic target site in human podocytes.

Christofides A, Papagregoriou G, Dweep H, Makrides N, Gretz N, Felekkis K, Deltas C.

Cell Mol Life Sci. 2019 Sep 17. doi: 10.1007/s00018-019-03294-z. [Epub ahead of print]

PMID:
31531679
2.

Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy.

Dvela-Levitt M, Kost-Alimova M, Emani M, Kohnert E, Thompson R, Sidhom EH, Rivadeneira A, Sahakian N, Roignot J, Papagregoriou G, Montesinos MS, Clark AR, McKinney D, Gutierrez J, Roth M, Ronco L, Elonga E, Carter TA, Gnirke A, Melanson M, Hartland K, Wieder N, Hsu JC, Deltas C, Hughey R, Bleyer AJ, Kmoch S, Živná M, Barešova V, Kota S, Schlondorff J, Heiman M, Alper SL, Wagner F, Weins A, Golub TR, Lander ES, Greka A.

Cell. 2019 Jul 25;178(3):521-535.e23. doi: 10.1016/j.cell.2019.07.002.

PMID:
31348885
3.

Clinical course and outcome after kidney transplantation in patients with C3 glomerulonephritis due to CFHR5 nephropathy.

Frangou E, Varnavidou-Nicolaidou A, Petousis P, Soloukides A, Theophanous E, Savva I, Michael N, Toumasi E, Georgiou D, Stylianou G, Mean R, Anastasiadou N, Athanasiou Y, Zavros M, Kyriacou K, Deltas C, Hadjianastassiou V.

Nephrol Dial Transplant. 2019 Mar 7. pii: gfz021. doi: 10.1093/ndt/gfz021. [Epub ahead of print]

PMID:
30844074
4.

Expert consensus guidelines for the genetic diagnosis of Alport syndrome.

Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H.

Pediatr Nephrol. 2019 Jul;34(7):1175-1189. doi: 10.1007/s00467-018-3985-4. Epub 2018 Jul 9. Review.

5.

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.

Živná M, Kidd K, Přistoupilová A, Barešová V, DeFelice M, Blumenstiel B, Harden M, Conlon P, Lavin P, Connaughton DM, Hartmannová H, Hodaňová K, Stránecký V, Vrbacká A, Vyleťal P, Živný J, Votruba M, Sovová J, Hůlková H, Robins V, Perry R, Wenzel A, Beck BB, Seeman T, Viklický O, Rajnochová-Bloudíčková S, Papagregoriou G, Deltas CC, Alper SL, Greka A, Bleyer AJ, Kmoch S.

J Am Soc Nephrol. 2018 Sep;29(9):2418-2431. doi: 10.1681/ASN.2018020180. Epub 2018 Jul 2.

6.

COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

Voskarides K, Papagregoriou G, Hadjipanagi D, Petrou I, Savva I, Elia A, Athanasiou Y, Pastelli A, Kkolou M, Hadjigavriel M, Stavrou C, Pierides A, Deltas C.

BMC Nephrol. 2018 May 16;19(1):114. doi: 10.1186/s12882-018-0906-5.

7.

Therapeutic potential of omega-3 fatty acids supplementation in a mouse model of dry macular degeneration.

Prokopiou E, Kolovos P, Kalogerou M, Neokleous A, Papagregoriou G, Deltas C, Malas S, Georgiou T.

BMJ Open Ophthalmol. 2017 Jun 19;1(1):e000056. doi: 10.1136/bmjophth-2016-000056. eCollection 2017. Erratum in: BMJ Open Ophthalmol. 2017 Nov 14;2(1):e000056corr1.

8.

Omega-3 fatty acids protect retinal neurons in the DBA/2J hereditary glaucoma mouse model.

Kalogerou M, Kolovos P, Prokopiou E, Papagregoriou G, Deltas C, Malas S, Georgiou T.

Exp Eye Res. 2018 Feb;167:128-139. doi: 10.1016/j.exer.2017.12.005. Epub 2017 Dec 16.

9.

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.

Nagara M, Papagregoriou G, Ben Abdallah R, Landoulsi Z, Bouyacoub Y, Elouej S, Kefi R, Pippucci T, Voskarides K, Bashamboo A, McElreavey K, Hachicha M, Romeo G, Seri M, Deltas C, Abdelhak S.

Eur J Med Genet. 2018 Jan;61(1):1-7. doi: 10.1016/j.ejmg.2017.10.002. Epub 2017 Oct 9.

PMID:
29024829
10.

Digenic inheritance and genetic modifiers.

Deltas C.

Clin Genet. 2018 Mar;93(3):429-438. doi: 10.1111/cge.13150. Epub 2018 Jan 25. Review.

PMID:
28977688
11.

Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.

Papazachariou L, Papagregoriou G, Hadjipanagi D, Demosthenous P, Voskarides K, Koutsofti C, Stylianou K, Ioannou P, Xydakis D, Tzanakis I, Papadaki A, Kallivretakis N, Nikolakakis N, Perysinaki G, Gale DP, Diamantopoulos A, Goudas P, Goumenos D, Soloukides A, Boletis I, Melexopoulou C, Georgaki E, Frysira E, Komianou F, Grekas D, Paliouras C, Alivanis P, Vergoulas G, Pierides A, Daphnis E, Deltas C.

Clin Genet. 2017 Nov;92(5):517-527. doi: 10.1111/cge.13077. Epub 2017 Sep 25.

PMID:
28632965
12.

A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.

Voskarides K, Stefanou C, Pieri M, Demosthenous P, Felekkis K, Arsali M, Athanasiou Y, Xydakis D, Stylianou K, Daphnis E, Goulielmos G, Loizou P, Savige J, Höhne M, Völker LA, Benzing T, Maxwell PH, Gale DP, Gorski M, Böger C, Kollerits B, Kronenberg F, Paulweber B, Zavros M, Pierides A, Deltas C.

PLoS One. 2017 Mar 23;12(3):e0174274. doi: 10.1371/journal.pone.0174274. eCollection 2017.

13.

Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics.

Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Başak N, Böhm R, Borg J, Borgiani P, Bozina N, Bruckmueller H, Burzynska B, Carracedo A, Cascorbi I, Deltas C, Dolzan V, Fenech A, Grech G, Kasiulevicius V, Kádaši Ľ, Kučinskas V, Khusnutdinova E, Loukas YL, Macek M Jr, Makukh H, Mathijssen R, Mitropoulos K, Mitropoulou C, Novelli G, Papantoni I, Pavlovic S, Saglio G, Sertić J, Stojiljkovic M, Stubbs AP, Squassina A, Torres M, Turnovec M, van Schaik RH, Voskarides K, Wakil SM, Werk A, Del Zompo M, Zukic B, Katsila T, Lee MT, Motsinger-Rief A, Mc Leod HL, van der Spek PJ, Patrinos GP.

PLoS One. 2017 Feb 16;12(2):e0172595. doi: 10.1371/journal.pone.0172595. eCollection 2017.

14.

A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics.

Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Başak N, Böhm R, Borg J, Borgiani P, Bozina N, Bruckmueller H, Burzynska B, Carracedo A, Cascorbi I, Deltas C, Dolzan V, Fenech A, Grech G, Kasiulevicius V, Kádaši Ľ, Kučinskas V, Khusnutdinova E, Loukas YL, Macek M Jr, Makukh H, Mathijssen R, Mitropoulos K, Mitropoulou C, Novelli G, Papantoni I, Pavlovic S, Saglio G, Setric J, Stojiljkovic M, Stubbs AP, Squassina A, Torres M, Turnovec M, van Schaik RH, Voskarides K, Wakil SM, Werk A, Del Zompo M, Zukic B, Katsila T, Lee MT, Motsinger-Rief A, Mc Leod HL, van der Spek PJ, Patrinos GP.

PLoS One. 2016 Sep 16;11(9):e0162866. doi: 10.1371/journal.pone.0162866. eCollection 2016. Erratum in: PLoS One. 2017 Feb 16;12 (2):e0172595.

15.

Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.

Gross O, Kashtan CE, Rheault MN, Flinter F, Savige J, Miner JH, Torra R, Ars E, Deltas C, Savva I, Perin L, Renieri A, Ariani F, Mari F, Baigent C, Judge P, Knebelman B, Heidet L, Lagas S, Blatt D, Ding J, Zhang Y, Gale DP, Prunotto M, Xue Y, Schachter AD, Morton LCG, Blem J, Huang M, Liu S, Vallee S, Renault D, Schifter J, Skelding J, Gear S, Friede T, Turner AN, Lennon R.

Nephrol Dial Transplant. 2017 Jun 1;32(6):916-924. doi: 10.1093/ndt/gfw095.

16.

RAAS inhibition and the course of Alport syndrome.

Savva I, Pierides A, Deltas C.

Pharmacol Res. 2016 May;107:205-210. doi: 10.1016/j.phrs.2016.03.017. Epub 2016 Mar 16. Review.

PMID:
26995302
17.

Y-chromosome phylogeographic analysis of the Greek-Cypriot population reveals elements consistent with Neolithic and Bronze Age settlements.

Voskarides K, Mazières S, Hadjipanagi D, Di Cristofaro J, Ignatiou A, Stefanou C, King RJ, Underhill PA, Chiaroni J, Deltas C.

Investig Genet. 2016 Feb 11;7:1. doi: 10.1186/s13323-016-0032-8. eCollection 2016.

18.

Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population.

Athanasiou Y, Voskarides K, Chatzikyriakidou A, Ignatiou A, Demosthenous P, Elia A, Zavros M, Georgiou I, Pierides A, Deltas C.

Genet Test Mol Biomarkers. 2015 Nov;19(11):641-5. doi: 10.1089/gtmb.2015.0144. Epub 2015 Nov 5.

PMID:
26540609
19.

Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.

Deltas C, Savva I, Voskarides K, Papazachariou L, Pierides A.

Nephron. 2015;130(4):271-80. doi: 10.1159/000435789. Epub 2015 Jul 17. Review.

PMID:
26201269
20.

Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure.

Stefanou C, Pieri M, Savva I, Georgiou G, Pierides A, Voskarides K, Deltas C.

Nephron. 2015;130(3):200-12. doi: 10.1159/000432406. Epub 2015 Jun 26.

PMID:
26138234
21.

COL4A3/COL4A4 heterozygous mutations with TBMN presenting as focal segmental glomerulosclerosis.

Deltas C, Pierides A.

Kidney Int. 2015 Apr;87(4):859. doi: 10.1038/ki.2015.38. No abstract available.

22.

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes.

Kidney Int. 2015 Oct;88(4):676-83. doi: 10.1038/ki.2015.28. Epub 2015 Mar 4.

PMID:
25738250
23.

Haploinsufficiency of the miR-873/miR-876 microRNA cluster is associated with craniofacial abnormalities.

Koufaris C, Papagregoriou G, Kousoulidou L, Moutafi M, Tauber M, Jouret B, Kieffer I, Deltas C, Tanteles GA, Anastasiadou V, Patsalis PC, Sismani C.

Gene. 2015 Apr 25;561(1):95-100. doi: 10.1016/j.gene.2015.02.018. Epub 2015 Feb 11.

PMID:
25680557
24.

Altered metabolic pathways in clear cell renal cell carcinoma: A meta-analysis and validation study focused on the deregulated genes and their associated networks.

Zaravinos A, Pieri M, Mourmouras N, Anastasiadou N, Zouvani I, Delakas D, Deltas C.

Oncoscience. 2014 Jan 3;1(2):117-31. eCollection 2014.

25.

A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family.

Nagara M, Voskarides K, Elouej S, Zaravinos A, Riahi Z, Papagregoriou G, Kefi R, Boussetta K, Deltas C, Abdelhak S, Tinsa F.

J Genet. 2014 Dec;93(3):859-63. No abstract available.

26.

Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.

Papazachariou L, Demosthenous P, Pieri M, Papagregoriou G, Savva I, Stavrou C, Zavros M, Athanasiou Y, Ioannou K, Patsias C, Panagides A, Potamitis C, Demetriou K, Prikis M, Hadjigavriel M, Kkolou M, Loukaidou P, Pastelli A, Michael A, Lazarou A, Arsali M, Damianou L, Goutziamani I, Soloukides A, Yioukas L, Elia A, Zouvani I, Polycarpou P, Pierides A, Voskarides K, Deltas C.

PLoS One. 2014 Dec 16;9(12):e115015. doi: 10.1371/journal.pone.0115015. eCollection 2014.

27.

ccRCC is fundamentally a metabolic disorder.

Zaravinos A, Deltas C.

Cell Cycle. 2014;13(16):2481-2. doi: 10.4161/15384101.2014.947225. No abstract available.

28.

Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.

Nagara M, Voskarides K, Nouira S, Ben Halim N, Kefi R, Aloulou H, Romdhane L, Ben Abdallah R, Ben Rhouma F, Aissa K, Boughamoura L, Kammoun T, Azzouz H, Abroug S, Ben Turkia H, Ayadi A, Mrad R, Chabchoub I, Hachicha M, Chemli J, Deltas C, Abdelhak S.

Genet Test Mol Biomarkers. 2014 Nov;18(11):741-8. doi: 10.1089/gtmb.2014.0175. Epub 2014 Oct 6.

29.

Alport syndrome from bench to bedside: the potential of current treatment beyond RAAS blockade and the horizon of future therapies.

Gross O, Perin L, Deltas C.

Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv124-30. doi: 10.1093/ndt/gfu028. Review.

PMID:
25165179
30.

New miRNA profiles accurately distinguish renal cell carcinomas and upper tract urothelial carcinomas from the normal kidney.

Zaravinos A, Lambrou GI, Mourmouras N, Katafygiotis P, Papagregoriou G, Giannikou K, Delakas D, Deltas C.

PLoS One. 2014 Mar 12;9(3):e91646. doi: 10.1371/journal.pone.0091646. eCollection 2014. Erratum in: PLoS One. 2014;9(6):e100063.

31.

Genetic polymorphisms in warfarin and tacrolimus-related genes VKORC1, CYP2C9 and CYP3A5 in the Greek-Cypriot population.

Hadjipanagi D, Chrysanthou S, Voskarides K, Deltas C.

BMC Res Notes. 2014 Mar 5;7:123. doi: 10.1186/1756-0500-7-123.

32.

Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.

Bleyer AJ, Kmoch S, Antignac C, Robins V, Kidd K, Kelsoe JR, Hladik G, Klemmer P, Knohl SJ, Scheinman SJ, Vo N, Santi A, Harris A, Canaday O, Weller N, Hulick PJ, Vogel K, Rahbari-Oskoui FF, Tuazon J, Deltas C, Somers D, Megarbane A, Kimmel PL, Sperati CJ, Orr-Urtreger A, Ben-Shachar S, Waugh DA, McGinn S, Bleyer AJ Jr, Hodanová K, Vylet'al P, Živná M, Hart TC, Hart PS.

Clin J Am Soc Nephrol. 2014 Mar;9(3):527-35. doi: 10.2215/CJN.06380613. Epub 2014 Feb 7.

33.
34.

CNVs-microRNAs interactions demonstrate unique characteristics in the human genome. An interspecies in silico analysis.

Dweep H, Georgiou GD, Gretz N, Deltas C, Voskarides K, Felekkis K.

PLoS One. 2013 Dec 2;8(12):e81204. doi: 10.1371/journal.pone.0081204. eCollection 2013.

35.

Evidence for activation of the unfolded protein response in collagen IV nephropathies.

Pieri M, Stefanou C, Zaravinos A, Erguler K, Stylianou K, Lapathitis G, Karaiskos C, Savva I, Paraskeva R, Dweep H, Sticht C, Anastasiadou N, Zouvani I, Goumenos D, Felekkis K, Saleem M, Voskarides K, Gretz N, Deltas C.

J Am Soc Nephrol. 2014 Feb;25(2):260-75. doi: 10.1681/ASN.2012121217. Epub 2013 Nov 21.

36.

Molecular genetics of familial hematuric diseases.

Deltas C, Pierides A, Voskarides K.

Nephrol Dial Transplant. 2013 Dec;28(12):2946-60. doi: 10.1093/ndt/gft253. Epub 2013 Sep 17. Review.

PMID:
24046192
37.

DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.

International Alport Mutation Consortium, Savige J, Ars E, Cotton RG, Crockett D, Dagher H, Deltas C, Ding J, Flinter F, Pont-Kingdon G, Smaoui N, Torra R, Storey H.

Pediatr Nephrol. 2014 Jun;29(6):971-7. doi: 10.1007/s00467-013-2486-8. Epub 2013 May 30. Review.

PMID:
23720012
38.

Epistatic role of the MYH9/APOL1 region on familial hematuria genes.

Voskarides K, Demosthenous P, Papazachariou L, Arsali M, Athanasiou Y, Zavros M, Stylianou K, Xydakis D, Daphnis E, Gale DP, Maxwell PH, Elia A, Pattaro C, Pierides A, Deltas C.

PLoS One. 2013;8(3):e57925. doi: 10.1371/journal.pone.0057925. Epub 2013 Mar 14.

39.

Renal graft outcome in autosomal dominant medullary cystic kidney disease type 1.

Soloukides AP, Moutzouris DA, Papagregoriou GN, Stavrou CV, Deltas CC, Tzanatos HA.

J Nephrol. 2013 Jul-Aug;26(4):793-8. doi: 10.5301/jn.5000249. Epub 2013 Feb 25.

PMID:
23475468
40.
41.

C3 glomerulonephritis/CFHR5 nephropathy is an endemic disease in Cyprus: clinical and molecular findings in 21 families.

Deltas C, Gale D, Cook T, Voskarides K, Athanasiou Y, Pierides A.

Adv Exp Med Biol. 2013;735:189-96. Review.

PMID:
23402027
42.

On 'Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations'.

Voskarides K, Pierides A, Deltas C.

Kidney Int. 2013 Feb;83(2):331. doi: 10.1038/ki.2012.376. No abstract available.

43.
44.

Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5.

Tsiakkis D, Pieri M, Koupepidou P, Demosthenous P, Panayidou K, Deltas C.

Clin Genet. 2012 Sep;82(3):297-9. doi: 10.1111/j.1399-0004.2012.01849.x. Epub 2012 Feb 16. No abstract available.

PMID:
22335431
45.

A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy.

Papagregoriou G, Erguler K, Dweep H, Voskarides K, Koupepidou P, Athanasiou Y, Pierides A, Gretz N, Felekkis KN, Deltas C.

PLoS One. 2012;7(2):e31021. doi: 10.1371/journal.pone.0031021. Epub 2012 Feb 2.

46.

Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria.

Voskarides K, Arsali M, Athanasiou Y, Elia A, Pierides A, Deltas C.

Pediatr Nephrol. 2012 Apr;27(4):675-9. doi: 10.1007/s00467-011-2084-6. Epub 2012 Jan 8.

PMID:
22228437
47.

The role of molecular genetics in diagnosing familial hematuria(s).

Deltas C, Pierides A, Voskarides K.

Pediatr Nephrol. 2012 Aug;27(8):1221-31. doi: 10.1007/s00467-011-1935-5. Epub 2011 Jun 19. Review.

48.

Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigrees.

Athanasiou Y, Voskarides K, Gale DP, Damianou L, Patsias C, Zavros M, Maxwell PH, Cook HT, Demosthenous P, Hadjisavvas A, Kyriacou K, Zouvani I, Pierides A, Deltas C.

Clin J Am Soc Nephrol. 2011 Jun;6(6):1436-46. doi: 10.2215/CJN.09541010. Epub 2011 May 12.

49.

Increased number of microRNA target sites in genes encoded in CNV regions. Evidence for an evolutionary genomic interaction.

Felekkis K, Voskarides K, Dweep H, Sticht C, Gretz N, Deltas C.

Mol Biol Evol. 2011 Sep;28(9):2421-4. doi: 10.1093/molbev/msr078. Epub 2011 Mar 25.

PMID:
21441354
50.

RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2.

Neocleous V, Skordis N, Portides G, Efstathiou E, Costi C, Ioannou N, Pantzaris M, Anastasiadou V, Deltas C, Phylactou LA.

J Endocrinol Invest. 2011 Nov;34(10):764-9. doi: 10.3275/7605. Epub 2011 Mar 21.

PMID:
21422799

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