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TSC2 inactivation, low mutation burden and high macrophage infiltration characterise hepatic angiomyolipomas. Histopathology. 2023 Oct; 83(4):569-581.
Giannikou K, Klonowska K, Tsuji J, Wu S, Zhu Z, Probst CK, Kao KZ, Wu CL, Rodig S, Marino-Enriquez A, Zen Y, Schaefer IM, Kwiatkowski DJ. PMID: 37679051.
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PubMed Mentions: Fields:
Translation:
HumansCells
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Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex. Am J Hum Genet. 2023 06 01; 110(6):979-988.
Klonowska K, Giannikou K, Grevelink JM, Boeszoermenyi B, Thorner AR, Herbert ZT, Afrin A, Treichel AM, Hamieh L, Kotulska K, Jozwiak S, Moss J, Darling TN, Kwiatkowski DJ. PMID: 37141891; PMCID: PMC10257004.
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PubMed Mentions:
9 Fields:
Translation:
Humans
-
Machine learning-based immune phenotypes correlate with STK11/KEAP1 co-mutations and prognosis in resectable NSCLC: a sub-study of the TNM-I trial. Ann Oncol. 2023 07; 34(7):578-588.
Rakaee M, Andersen S, Giannikou K, Paulsen EE, Kilvaer TK, Busund LR, Berg T, Richardsen E, Lombardi AP, Adib E, Pedersen MI, Tafavvoghi M, Wahl SGF, Petersen RH, Bondgaard AL, Yde CW, Baudet C, Licht P, Lund-Iversen M, Grønberg BH, Fjellbirkeland L, Helland Å, Pøhl M, Kwiatkowski DJ, Donnem T. PMID: 37100205.
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PubMed Mentions:
1 Fields:
Translation:
Humans
-
Spectrum of germline and somatic mitochondrial DNA variants in Tuberous Sclerosis Complex. Front Genet. 2022; 13:917993.
Giannikou K, Martin KR, Abdel-Azim AG, Pamir KJ, Hougard TR, Bagwe S, Tang Y, MacKeigan JP, Kwiatkowski DJ, Henske EP, Lam HC. PMID: 36793390; PMCID: PMC9923026.
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PubMed Mentions:
5
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Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk. Annu Rev Genomics Hum Genet. 2022 08 31; 23:331-361.
Chen JL, Miller DT, Schmidt LS, Malkin D, Korf BR, Eng C, Kwiatkowski DJ, Giannikou K. PMID: 36044908.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex. J Clin Invest. 2022 05 16; 132(10).
Klonowska K, Grevelink JM, Giannikou K, Ogorek BA, Herbert ZT, Thorner AR, Darling TN, Moss J, Kwiatkowski DJ. PMID: 35358092; PMCID: PMC9106361.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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Evidence for shared genetic risk factors between lymphangioleiomyomatosis and pulmonary function. ERJ Open Res. 2022 Jan; 8(1).
Farré X, Espín R, Baiges A, Blommaert E, Kim W, Giannikou K, Herranz C, Román A, Sáez B, Casanova Á, Ancochea J, Valenzuela C, Ussetti P, Laporta R, Rodríguez-Portal JA, van Moorsel CHM, van der Vis JJ, Quanjel MJR, Tena-Garitaonaindia M, Sánchez de Medina F, Mateo F, Molina-Molina M, Won S, Kwiatkowski DJ, de Cid R, Pujana MA. PMID: 35083324; PMCID: PMC8784893.
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PubMed Mentions:
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A tissue-bioengineering strategy for modeling rare human kidney diseases in vivo. Nat Commun. 2021 11 11; 12(1):6496.
Hernandez JOR, Wang X, Vazquez-Segoviano M, Lopez-Marfil M, Sobral-Reyes MF, Moran-Horowich A, Sundberg M, Lopez-Cantu DO, Probst CK, Ruiz-Esparza GU, Giannikou K, Abdi R, Henske EP, Kwiatkowski DJ, Sahin M, Lemos DR. PMID: 34764250; PMCID: PMC8586030.
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PubMed Mentions:
8 Fields:
Translation:
HumansAnimalsCells
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Differential and Common Signatures of miRNA Expression and Methylation in Childhood Central Nervous System Malignancies: An Experimental and Computational Approach. Cancers (Basel). 2021 Oct 31; 13(21).
Lambrou GI, Poulou M, Giannikou K, Themistocleous M, Zaravinos A, Braoudaki M. PMID: 34771655; PMCID: PMC8583574.
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PubMed Mentions:
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Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med. 2021 Oct; 23(10):2022.
Giannikou K, Lasseter KD, Grevelink JM, Tyburczy ME, Dies KA, Zhu Z, Hamieh L, Wollison BM, Thorner AR, Ruoss SJ, Thiele EA, Sahin M, Kwiatkowski DJ. PMID: 33353975.
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PubMed Mentions:
2 Fields:
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Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations. Clin Cancer Res. 2021 07 15; 27(14):3845-3853.
Adib E, Klonowska K, Giannikou K, Do KT, Pruitt-Thompson S, Bhushan K, Milstein MI, Hedglin J, Kargus KE, Sholl LM, Tsuji J, Hyman DM, Sisk A, Shapiro GI, Vargas HA, Harding JJ, Voss MH, Iyer G, Kwiatkowski DJ. PMID: 33727259; PMCID: PMC8282751.
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PubMed Mentions:
20 Fields:
Translation:
HumansCTClinical Trials
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Therapeutic Targeting of DGKA-Mediated Macropinocytosis Leads to Phospholipid Reprogramming in Tuberous Sclerosis Complex. Cancer Res. 2021 04 15; 81(8):2086-2100.
Kovalenko A, Sanin A, Kosmas K, Zhang L, Wang J, Akl EW, Giannikou K, Probst CK, Hougard TR, Rue RW, Krymskaya VP, Asara JM, Lam HC, Kwiatkowski DJ, Henske EP, Filippakis H. PMID: 33593821; PMCID: PMC8137542.
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PubMed Mentions:
6 Fields:
Translation:
AnimalsCells
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Single-Cell Transcriptomic Analysis Identifies a Unique Pulmonary Lymphangioleiomyomatosis Cell. Am J Respir Crit Care Med. 2020 11 15; 202(10):1373-1387.
Guo M, Yu JJ, Perl AK, Wikenheiser-Brokamp KA, Riccetti M, Zhang EY, Sudha P, Adam M, Potter A, Kopras EJ, Giannikou K, Potter SS, Sherman S, Hammes SR, Kwiatkowski DJ, Whitsett JA, McCormack FX, Xu Y. PMID: 32603599; PMCID: PMC7667901.
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PubMed Mentions:
39 Fields:
Translation:
HumansCells
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MITF is a driver oncogene and potential therapeutic target in kidney angiomyolipoma tumors through transcriptional regulation of CYR61. Oncogene. 2021 01; 40(1):112-126.
Zarei M, Giannikou K, Du H, Liu HJ, Duarte M, Johnson S, Nassar AH, Widlund HR, Henske EP, Long HW, Kwiatkowski DJ. PMID: 33082558; PMCID: PMC7796905.
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PubMed Mentions:
5 Fields:
Translation:
HumansAnimalsCells
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Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile. Mod Pathol. 2021 02; 34(2):264-279.
Giannikou K, Zhu Z, Kim J, Winden KD, Tyburczy ME, Marron D, Parker JS, Hebert Z, Bongaarts A, Taing L, Long HW, Pisano WV, Alexandrescu S, Godlewski B, Nellist M, Kotulska K, Jozwiak S, Roszkowski M, Mandera M, Thiele EA, Lidov H, Getz G, Devinsky O, Lawrence MS, Ligon KL, Ellison DW, Sahin M, Aronica E, Meredith DM, Kwiatkowski DJ. PMID: 33051600; PMCID: PMC9361192.
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PubMed Mentions:
9 Fields:
Translation:
HumansCells
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Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis. Eur Respir J. 2019 10; 54(4).
Ogórek B, Hamieh L, Lasseter K, Bagwe S, Machado T, Herranz-Ors C, Thorner AR, Nag A, Gulleman P, Giannikou K, Young LR, Pujana MÀ, Darling TN, El-Chemaly S, Moss J, Henske EP, Kwiatkowski DJ. PMID: 31273045; PMCID: PMC7340110.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Tumors with TSC mutations are sensitive to CDK7 inhibition through NRF2 and glutathione depletion. J Exp Med. 2019 11 04; 216(11):2635-2652.
Zarei M, Du H, Nassar AH, Yan RE, Giannikou K, Johnson SH, Lam HC, Henske EP, Wang Y, Zhang T, Asara J, Kwiatkowski DJ. PMID: 31506280; PMCID: PMC6829598.
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PubMed Mentions:
13 Fields:
Translation:
HumansAnimalsCells
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A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis. Eur Respir J. 2019 06; 53(6).
Kim W, Giannikou K, Dreier JR, Lee S, Tyburczy ME, Silverman EK, Radzikowska E, Wu S, Wu CL, Henske EP, Hunninghake G, Carel H, Roman A, Pujana MA, Moss J, Won S, Kwiatkowski DJ. PMID: 31000673.
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PubMed Mentions:
11 Fields:
Translation:
HumansCells
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Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med. 2019 11; 21(11):2639-2643.
Giannikou K, Lasseter KD, Grevelink JM, Tyburczy ME, Dies KA, Zhu Z, Hamieh L, Wollison BM, Thorner AR, Ruoss SJ, Thiele EA, Sahin M, Kwiatkowski DJ. PMID: 31160751.
View in:
PubMed Mentions:
22 Fields:
Translation:
HumansPHPublic Health
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Expanding the histomorphologic spectrum of TFE3-rearranged perivascular epithelioid cell tumors. Hum Pathol. 2018 12; 82:125-130.
Maloney N, Giannikou K, Lefferts J, Bridge JA, Linos K. PMID: 29626599.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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Notch transactivates Rheb to maintain the multipotency of TSC-null cells. Nat Commun. 2017 11 29; 8(1):1848.
Cho JH, Patel B, Bonala S, Manne S, Zhou Y, Vadrevu SK, Patel J, Peronaci M, Ghouse S, Henske EP, Roegiers F, Giannikou K, Kwiatkowski DJ, Mansouri H, Markiewski MM, White B, Karbowniczek M. PMID: 29184052; PMCID: PMC5705704.
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PubMed Mentions:
6 Fields:
Translation:
HumansAnimalsCells
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Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations. Oncotarget. 2017 Nov 10; 8(56):95516-95529.
Bongaarts A, Giannikou K, Reinten RJ, Anink JJ, Mills JD, Jansen FE, Spliet GMW, den Dunnen WFA, Coras R, Blümcke I, Paulus W, Scholl T, Feucht M, Kotulska K, Jozwiak S, Buccoliero AM, Caporalini C, Giordano F, Genitori L, Söylemezoglu F, Pimentel J, Nellist M, Schouten-van Meeteren AYN, Nag A, Mühlebner A, Kwiatkowski DJ, Aronica E. PMID: 29221145; PMCID: PMC5707039.
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PubMed Mentions:
28 Fields:
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Human Pluripotent Stem Cell-Derived TSC2-Haploinsufficient Smooth Muscle Cells Recapitulate Features of Lymphangioleiomyomatosis. Cancer Res. 2017 10 15; 77(20):5491-5502.
Julian LM, Delaney SP, Wang Y, Goldberg AA, Doré C, Yockell-Lelièvre J, Tam RY, Giannikou K, McMurray F, Shoichet MS, Harper ME, Henske EP, Kwiatkowski DJ, Darling TN, Moss J, Kristof AS, Stanford WL. PMID: 28830860; PMCID: PMC5645248.
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PubMed Mentions:
19 Fields:
Translation:
HumansAnimalsCells
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Application of high-resolution array comparative genomic hybridization in children with unknown syndromic microcephaly. Pediatr Res. 2017 Aug; 82(2):253-260.
Tsoutsou E, Tzetis M, Giannikou K, Braoudaki M, Mitrakos A, Amenta S, Selenti N, Kanavakis E, Zafeiriou D, Kitsiou-Tzeli S, Fryssira H. PMID: 28422950.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly. Sci Rep. 2017 03 08; 7:43708.
Sgourdou P, Mishra-Gorur K, Saotome I, Henagariu O, Tuysuz B, Campos C, Ishigame K, Giannikou K, Quon JL, Sestan N, Caglayan AO, Gunel M, Louvi A. PMID: 28272472; PMCID: PMC5341122.
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PubMed Mentions:
22 Fields:
Translation:
HumansAnimalsCells
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Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development. PLoS Genet. 2016 08; 12(8):e1006242.
Giannikou K, Malinowska IA, Pugh TJ, Yan R, Tseng YY, Oh C, Kim J, Tyburczy ME, Chekaluk Y, Liu Y, Alesi N, Finlay GA, Wu CL, Signoretti S, Meyerson M, Getz G, Boehm JS, Henske EP, Kwiatkowski DJ. PMID: 27494029; PMCID: PMC4975391.
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PubMed Mentions:
55 Fields:
Translation:
Humans
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miR-15a and miR-24-1 as putative prognostic microRNA signatures for pediatric pilocytic astrocytomas and ependymomas. Tumour Biol. 2016 Jul; 37(7):9887-97.
Braoudaki M, Lambrou GI, Giannikou K, Papadodima SA, Lykoudi A, Stefanaki K, Sfakianos G, Kolialexi A, Tzortzatou-Stathopoulou F, Tzetis M, Kitsiou-Tzeli S, Kanavakis E. PMID: 26813564.
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PubMed Mentions:
17 Fields:
Translation:
Humans
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Erratum to: An interstitial deletion at 8q23.1-q24.12 associated with Langer-Giedion syndrome/ Trichorhinophalangeal syndrome (TRPS) type II and Cornelia de Lange syndrome 4. Mol Cytogenet. 2015; 8:73.
Selenti N, Tzetis M, Braoudaki M, Giannikou K, Kitsiou-Tzeli S, Fryssira H. PMID: 26430469; PMCID: PMC4589913.
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PubMed Mentions:
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Microrna expression signatures predict patient progression and disease outcome in pediatric embryonal central nervous system neoplasms. J Hematol Oncol. 2014 Dec 31; 7:96.
Braoudaki M, Lambrou GI, Giannikou K, Milionis V, Stefanaki K, Birks DK, Prodromou N, Kolialexi A, Kattamis A, Spiliopoulou CA, Tzortzatou-Stathopoulou F, Kanavakis E. PMID: 25551588; PMCID: PMC4342799.
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PubMed Mentions:
21 Fields:
Translation:
Humans
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New miRNA profiles accurately distinguish renal cell carcinomas and upper tract urothelial carcinomas from the normal kidney. PLoS One. 2014; 9(3):e91646.
Zaravinos A, Lambrou GI, Mourmouras N, Katafygiotis P, Papagregoriou G, Giannikou K, Delakas D, Deltas C. PMID: 24621579; PMCID: PMC3951427.
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PubMed Mentions:
25 Fields:
Translation:
Humans
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Mesenchymal derivatives of genetically unstable human embryonic stem cells are maintained unstable but undergo senescence in culture as do bone marrow-derived mesenchymal stem cells. Cell Reprogram. 2014 Feb; 16(1):1-8.
Karagiannidou A, Varela I, Giannikou K, Tzetis M, Spyropoulos A, Paterakis G, Petrakou E, Theodosaki M, Goussetis E, Kanavakis E. PMID: 24380659.
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PubMed Mentions:
4 Fields:
Translation:
HumansCellsCTClinical Trials
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Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease. Pediatr Res. 2013 Jun; 73(6):772-6.
Syrmou A, Tzetis M, Fryssira H, Kosma K, Oikonomakis V, Giannikou K, Makrythanasis P, Kitsiou-Tzeli S, Kanavakis E. PMID: 23481551.
View in:
PubMed Mentions:
22 Fields:
Translation:
Humans
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Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation. Eur J Paediatr Neurol. 2013 May; 17(3):316-20.
Tsoutsou E, Tzetis M, Giannikou K, Syrmou A, Oikonomakis V, Kosma K, Kanioura A, Kanavakis E, Fryssira H. PMID: 23352671.
View in:
PubMed Mentions:
1 Fields:
Translation:
HumansCells
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Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype. Gene. 2012 Sep 15; 506(2):360-8.
Giannikou K, Fryssira H, Oikonomakis V, Syrmou A, Kosma K, Tzetis M, Kitsiou-Tzeli S, Kanavakis E. PMID: 22766398.
View in:
PubMed Mentions:
14 Fields:
Translation:
HumansCells
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An unusual case of Cat-Eye syndrome phenotype and extragonadal mature teratoma: review of the literature. Birth Defects Res A Clin Mol Teratol. 2012 Jul; 94(7):561-6.
Tzetis M, Stefanaki K, Syrmou A, Kosma K, Leze E, Giannikou K, Oikonomakis V, Sofocleous C, Choulakis M, Kolialexi A, Makrythanasis P, Kitsiou-Tzeli S. PMID: 22730277.
View in:
PubMed Mentions:
2 Fields:
Translation:
HumansCells
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Familial Pelizaeus-Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus. Birth Defects Res A Clin Mol Teratol. 2012 Jun; 94(6):494-8.
Kitsiou-Tzeli S, Konstantinidou A, Sofocleous C, Kosma K, Syrmou A, Giannikou K, Sifakis S, Makrythanasis P, Tzetis M. PMID: 22511562.
View in:
PubMed Mentions:
1 Fields:
Translation:
HumansCells
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Microdeletion and microduplication 17q21.31 plus an additional CNV, in patients with intellectual disability, identified by array-CGH. Gene. 2012 Jan 15; 492(1):319-24.
Kitsiou-Tzeli S, Frysira H, Giannikou K, Syrmou A, Kosma K, Kakourou G, Leze E, Sofocleous C, Kanavakis E, Tzetis M. PMID: 22037486.
View in:
PubMed Mentions:
9 Fields:
Translation:
HumansCells
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Rapid clinical-scale propagation of mesenchymal stem cells using cultures initiated with immunoselected bone marrow CD105+ cells. J Cell Mol Med. 2011 Sep; 15(9):1983-8.
Spiropoulos A, Theodosaki M, Stefanaki K, Paterakis G, Tzetis M, Giannikou K, Petrakou E, Dimopoulou MN, Papassotiriou I, Roma ES, Kanavakis E, Graphakos S, Goussetis E. PMID: 20731745; PMCID: PMC3918053.
View in:
PubMed Mentions:
4 Fields:
Translation:
HumansCells
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Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH. J Hum Genet. 2010 Nov; 55(11):761-3.
Kaliakatsos M, Giannakopoulos A, Fryssira H, Kanariou M, Skiathitou AV, Siahanidou T, Giannikou K, Makrythanasis P, Kanavakis E, Tzetis M. PMID: 20686492.
View in:
PubMed Mentions:
4 Fields:
Translation:
Humans
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De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature. Am J Med Genet A. 2010 Aug; 152A(8):1925-32.
Kitsiou-Tzeli S, Tzetis M, Sofocleous C, Vrettou C, Xaidara A, Giannikou K, Pampanos A, Mavrou A, Kanavakis E. PMID: 20575009.
View in:
PubMed Mentions:
12 Fields:
Translation:
HumansCells
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Reserves, functional, immunoregulatory, and cytogenetic properties of bone marrow mesenchymal stem cells in patients with myelodysplastic syndromes. Stem Cells Dev. 2010 Jul; 19(7):1043-54.
Klaus M, Stavroulaki E, Kastrinaki MC, Fragioudaki P, Giannikou K, Psyllaki M, Pontikoglou C, Tsoukatou D, Mamalaki C, Papadaki HA. PMID: 19788374.
View in:
PubMed Mentions:
35 Fields:
Translation:
HumansAnimalsCells
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Effect of lenalidomide therapy on hematopoiesis of patients with myelodysplastic syndrome associated with chromosome 5q deletion. Haematologica. 2010 Mar; 95(3):406-14.
Ximeri M, Galanopoulos A, Klaus M, Parcharidou A, Giannikou K, Psyllaki M, Symeonidis A, Pappa V, Kartasis Z, Liapi D, Hatzimichael E, Kokoris S, Korkolopoulou P, Sambani C, Pontikoglou C, Papadaki HA, Hellenic MDS Study Group. PMID: 19773257; PMCID: PMC2833070.
View in:
PubMed Mentions:
17 Fields:
Translation:
HumansCells