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Article ; Online: Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.

Kido, Jun / Makris, Georgios / Santra, Saikat / Häberle, Johannes

2024

Abstract: Citrin deficiency is an autosomal recessive disorder caused by a defect of citrin resulting from mutations in SLC25A13. The clinical manifestation is very variable and comprises three types: neonatal intrahepatic cholestasis caused by citrin deficiency ( ... ...

Abstract	Citrin deficiency is an autosomal recessive disorder caused by a defect of citrin resulting from mutations in SLC25A13. The clinical manifestation is very variable and comprises three types: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD: OMIM 605814), post-NICCD including failure to thrive and dyslipidemia caused by citrin deficiency, and adult-onset type II citrullinemia (CTLN2: OMIM 603471). Frequently, NICCD can run with a mild clinical course and manifestations may resolve in the post-NICCD. However, a subset of patients may develop CTLN2 when they become more than 18 years old, and this condition is potentially life-threatening. Since a combination of diet with low-carbohydrate and high-fat content supplemented with medium-chain triglycerides is expected to ameliorate most manifestations and to prevent the progression to CTLN2, early detection and intervention are important and may improve long-term outcome in patients. Moreover, infusion of high sugar solution and/or glycerol may be life-threatening in patients with citrin deficiency, particularly CTLN2. The disease is highly prevalent in East Asian countries but is more and more recognized as a global entity. Since newborn screening for citrin deficiency has only been introduced in a few countries, the diagnosis still mainly relies on clinical suspicion followed by genetic testing or selective metabolic screening. This paper aims at describing (1) the different stages of the disease focusing on clinical aspects; (2) the current published clinical situation in East Asia, Europe, and North America; (3) current efforts in increasing awareness by establishing management guidelines and patient registries, hereby illustrating the ongoing development of a global network for this rare disease.
Language	English
Publishing date	2024-03-19
Publishing country	United States
Document type	Journal Article
ZDB-ID	438341-2
ISSN	1573-2665 ; 0141-8955
ISSN (online)	1573-2665
ISSN	0141-8955
DOI	10.1002/jimd.12722
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Article: A Novel

Kanetis, Loukas I / Taliadoros, Demetris / Makris, Georgios / Christoforou, Michalis

Plants (Basel, Switzerland)

2022 Volume 11, Issue 20

Abstract: Besides well-known grapevine trunk disease (GTD)-related pathogens, there is an increased interest in wood-colonizing fungi that infect grapevines. During 2017-2018, a survey was conducted in Cyprus and wood samples were collected from vines exhibiting ... ...

Abstract	Besides well-known grapevine trunk disease (GTD)-related pathogens, there is an increased interest in wood-colonizing fungi that infect grapevines. During 2017-2018, a survey was conducted in Cyprus and wood samples were collected from vines exhibiting typical GTD symptoms. Based on morphological and multilocus phylogenetic analyses (ITS, LSU,
Language	English
Publishing date	2022-10-16
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2704341-1
ISSN	2223-7747
ISSN	2223-7747
DOI	10.3390/plants11202733
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Article: First Report of

Makris, Georgios / Solonos, Solonas / Christodoulou, Marios / Kanetis, Loukas I

Plant disease

2022 Volume 106, Issue 4, Page(s) 1294

MeSH term(s)	Ascomycota/genetics ; Cyprus ; Plant Diseases ; Vitis
Language	English
Publishing date	2022-03-11
Publishing country	United States
Document type	Journal Article
ZDB-ID	754182-x
ISSN	0191-2917
ISSN	0191-2917
DOI	10.1094/PDIS-03-21-0503-PDN
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Article ; Online: Distinction of Chaos from Randomness Is Not Possible from the Degree Distribution of the Visibility and Phase Space Reconstruction Graphs.

Angelidis, Alexandros K / Goulas, Konstantinos / Bratsas, Charalampos / Makris, Georgios C / Hanias, Michael P / Stavrinides, Stavros G / Antoniou, Ioannis E

Entropy (Basel, Switzerland)

2024 Volume 26, Issue 4

Abstract: We investigate whether it is possible to distinguish chaotic time series from random time series using network theory. In this perspective, we selected four methods to generate graphs from time series: the natural, the horizontal, the limited penetrable ... ...

Abstract	We investigate whether it is possible to distinguish chaotic time series from random time series using network theory. In this perspective, we selected four methods to generate graphs from time series: the natural, the horizontal, the limited penetrable horizontal visibility graph, and the phase space reconstruction method. These methods claim that the distinction of chaos from randomness is possible by studying the degree distribution of the generated graphs. We evaluated these methods by computing the results for chaotic time series from the 2D Torus Automorphisms, the chaotic Lorenz system, and a random sequence derived from the normal distribution. Although the results confirm previous studies, we found that the distinction of chaos from randomness is not generally possible in the context of the above methodologies.
Language	English
Publishing date	2024-04-17
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2014734-X
ISSN	1099-4300 ; 1099-4300
ISSN (online)	1099-4300
ISSN	1099-4300
DOI	10.3390/e26040341
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Article ; Online: Expression and function of the urea cycle in widely-used hepatic cellular models.

Makris, Georgios / Veit, Lara / Rüfenacht, Véronique / Klassa, Sven / Zürcher, Nadia / Matsumoto, Shirou / Poms, Martin / Häberle, Johannes

Journal of inherited metabolic disease

2024

Abstract: The group of rare metabolic defects termed urea cycle disorders (UCDs) occur within the ammonia elimination pathway and lead to significant neurocognitive sequelae for patients surviving decompensation episodes. Besides orthotopic liver transplantation, ... ...

Abstract	The group of rare metabolic defects termed urea cycle disorders (UCDs) occur within the ammonia elimination pathway and lead to significant neurocognitive sequelae for patients surviving decompensation episodes. Besides orthotopic liver transplantation, curative options are lacking for UCDs, with dietary management being the gold clinical standard. Novel therapeutic approaches are essential for UCDs; however, such effort presupposes preclinical testing in cellular models that effectively capture disease manifestation. Several cellular and animal models exist and aim to recapitulate the broad phenotypic spectrum of UCDs; however, the majority of those lack extensive molecular and biochemical characterization. The development of cellular models is emerging since animal models are extremely time and cost consuming, and subject to ethical considerations, including the 3R principle that endorses animal welfare over unchecked preclinical testing. The aim of this study was to compare the extent of expression and functionality of the urea cycle in two commercial hepatoma-derived cell lines, induced pluripotent stem cell hepatocytes (iPSC-Heps), primary human hepatocytes (PHHs) and human liver cell preparations. Using immunoblotting, immunocytochemistry, and stable isotope tracing of the urea cycle metabolites, we identified that the hepatoma-derived, 2-week differentiated HepaRG cells are urea cycle proficient and behave as cellular alternatives to PHHs. Furthermore, HepaRG cells were superior to iPSC-Heps, which are known to exhibit batch-to-batch variabilities in terms of hepatic maturity and enzyme expression. Finally, HepG2 cells lack the urea cycle enzymes ornithine transcarbamylase and arginase 1, the transporter ORNT1, which limits their suitability as model for the study of UCDs.
Language	English
Publishing date	2024-01-08
Publishing country	United States
Document type	Journal Article
ZDB-ID	438341-2
ISSN	1573-2665 ; 0141-8955
ISSN (online)	1573-2665
ISSN	0141-8955
DOI	10.1002/jimd.12701
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Article ; Online: LEMD2-associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene.

Matter, Alyssia / Kaufman, Christina / Zürcher, Nadia / Lenggenhager, Daniela / Grehten, Patrice / Bartholdi, Deborah / Horka, Laura / Häberle, Johannes / Makris, Georgios

Aging cell

2024 , Page(s) e14189

Abstract: Nuclear envelopathies are rare genetic diseases that compromise the integrity of the nuclear envelope. Patients with a defect in LEM domain nuclear envelope protein 2 (LEMD2) leading to LEMD2-associated progeroid syndrome are exceedingly scarce in number, ...

Abstract	Nuclear envelopathies are rare genetic diseases that compromise the integrity of the nuclear envelope. Patients with a defect in LEM domain nuclear envelope protein 2 (LEMD2) leading to LEMD2-associated progeroid syndrome are exceedingly scarce in number, yet they exhibit shared clinical features including skeletal abnormalities and a prematurely-aged appearance. Our study broadens the understanding of LEMD2-associated progeroid syndrome by detailing its phenotypic and molecular characteristics in the first female and fourth reported case, highlighting a distinct impact on metabolic functions. The patient's history revealed growth delay, facial and skeletal abnormalities, and recurrent abdominal pain crises caused by hepatomegaly. Comparisons with the previously documented cases emphasized similarities in skeletal and facial features while showcasing unique variations, notably in cardiac and hepatic manifestations. In vitro experiments conducted on patient-derived peripheral blood and urinary epithelial cells and LEMD2-downregulated HepG2 cells confirmed abnormalities in the structure of the nuclear envelope in all three tissue-types. Overall, our work offers a comprehensive profile of a patient with LEMD2-related syndrome, emphasizing the hepatic involvement in the disease and broadening our understanding of clinical and molecular implications. This study not only contributes specific insights into LEMD2-related conditions but also underscores potential therapeutic paths for disorders affecting nuclear envelope dynamics.
Language	English
Publishing date	2024-05-16
Publishing country	England
Document type	Journal Article
ZDB-ID	2113083-8
ISSN	1474-9726 ; 1474-9718
ISSN (online)	1474-9726
ISSN	1474-9718
DOI	10.1111/acel.14189
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Article: Optimum currency area theory, nominal and real convergence controversies and the European experience after the recent global economic crisis

Makris, Georgios

EU crisis and the role of the periphery , p. 57-73

2015 , Page(s) 57–73

Author's details	Georgios Makris
Keywords	Optimaler Währungsraum ; Finanzkrise ; Wirtschaftliche Konvergenz ; EU-Staaten ; OCA ; Nominal real convergence controversy ; EU
Language	Undetermined
Publisher	Springer
Publishing place	Cham [u.a.]
Document type	Article
ISBN	978-3-319-10132-3 ; 3-319-10132-3
Database	ECONomics Information System

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Article: First Report of Diaporthe foeniculina Associated with Grapevine Trunk Diseases on Vitis vinifera in Cyprus

Makris, Georgios / Solonos, Solonas / Christodoulou, Marios / Kanetis, Loukas I.

Plant disease. 2022 Apr. 18, v. 106, no. 4

2022

Abstract: In June 2017, three vineyards were surveyed in the regions of Droushia (30-year-old cv. Mavro), Ineia (50-year-old cv. Xynisteri), and Lemona (15-year-old cv. Carignan) in the province of Paphos, Cyprus, with dieback incidence of 22, 32, and 14%, ... ...

Abstract	In June 2017, three vineyards were surveyed in the regions of Droushia (30-year-old cv. Mavro), Ineia (50-year-old cv. Xynisteri), and Lemona (15-year-old cv. Carignan) in the province of Paphos, Cyprus, with dieback incidence of 22, 32, and 14%, respectively. More specifically, affected grapevines exhibited severe dieback symptoms in spur and cordon positions, related to perennial cankers and internal brown discoloration. Thirty symptomatic samples were surface sterilized (95% ethanol) and wood chips were plated on potato dextrose agar (PDA), amended with streptomycin (500 μg/ml) at 25°C for 3 to 5 days. Based on colony morphology (white to creamy color, with sparse aerial mycelium) and conidia production, nine Diaporthe-like isolates were obtained. For species identification, the internal transcribed spacer (ITS) region and β-tubulin (BT) genes were amplified using the primer pairs ITS1/ITS4 and Bt2a/Bt2b, respectively (Úrbez-Torres et al. 2008). Sequences of the isolates P101b, P114c, and P289a revealed >99.8% homology to NCBI voucher specimens of Diaporthe foeniculina (Sacc.) Udayanga & Castl. (Udayanga et al. 2014) (ITS: CBS111553 and MH050434 and ΒΤ: KY511368 and KF778966), and were deposited in the GenBank (ITS: MT735646, MT737289, MT737287 and BT: MT903969, MT903970, MT903971). Thus, 8.3% of the collected isolates (3 of 36) were identified as D. foeniculina, while the rest of the Diaporthe-like isolates were identified as D. ampelina. D. foeniculina isolates were also transferred on 2% water agar with sterile pine needles under a near-ultraviolet regime of 12 h of light and 12 h of darkness at 25°C to induce sporulation (Guarnaccia and Crous 2017). Two weeks later, microscopic observations revealed dark-brown to black, globose to subglobose, ostiolate pycnidia (n = 30) of 291 to 897 (595 ± 173) by 192 to 655 (364 ± 113) μm containing hyaline, unbranched conidiophores, bearing α‐ and β‐conidia in the form of yellowish cirri. α-conidia were aseptate, hyaline, ovate to ellipsoidal, ranging (n = 100) from 5.6 to 9.9 (7.5 ± 0.8) by 1.9 to 3.3 (2.7 ± 0.3) μm in size. β-conidia were abundant, aseptate, hyaline, filiform, slightly curved (n = 100), and from 22.4 to 35.3 (28.1 ± 2.5) by 1.2 to 2.3 (1.6 ± 0.2) μm in size (Udayanga et al. 2014). Pathogenicity tests were conducted with isolates P101b and P289a under greenhouse conditions (24 to 32°C, 70% RH). Ten 1-year-old rooted canes of cv. Mavro were inoculated with 4-mm mycelium plugs from actively growing cultures into wounds made by drilling between two internodes at the middle of the trunk. The same number of cuttings were inoculated with sterile PDA plugs, sealed with Vaseline, and wrapped with parafilm, serving as controls. Seven months later, all inoculated cuttings developed brownish wood discolorations (average 39 ± 13 mm), like those of naturally infected plants. No symptoms were observed in the controls. Successful reisolations were made only from the inoculated cuttings and confirmed by colony morphology. Previously, D. foeniculina (as D. neotheicola) has been reported as a grapevine wood saprophyte (Úrbez-Torres et al. 2013). It has also been reported to cause shoot canker and dieback in numerous hosts, including almond, avocado, citrus, and sweet chestnut (Annesi et al. 2016; Diogo et al. 2010; Guarnaccia and Crous 2017; Mathioudakis et al. 2020). This is the first record of D. foeniculina associated with grapevine trunk diseases (GTDs) in Cyprus. However, its relative importance as the causal agent of GTDs remains to be further investigated.
Keywords	Castanea ; Citrus ; Cyprus ; Vitis vinifera ; agar ; almonds ; avocados ; color ; conidia ; conidiophores ; culture media ; dieback ; discoloration ; ethanol ; greenhouses ; internal transcribed spacers ; mycelium ; pathogenicity ; pycnidia ; saprophytes ; species identification ; sporulation ; streptomycin ; ultraviolet radiation ; wood
Language	English
Dates of publication	2022-0418
Publishing place	The American Phytopathological Society
Document type	Article
ZDB-ID	754182-x
ISSN	0191-2917
ISSN	0191-2917
DOI	10.1094/PDIS-03-21-0503-PDN
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: A 3D-Printed Capacitive Smart Insole for Plantar Pressure Monitoring.

Samarentsis, Anastasios G / Makris, Georgios / Spinthaki, Sofia / Christodoulakis, Georgios / Tsiknakis, Manolis / Pantazis, Alexandros K

Sensors (Basel, Switzerland)

2022 Volume 22, Issue 24

Abstract: Gait analysis refers to the systematic study of human locomotion and finds numerous applications in the fields of clinical monitoring, rehabilitation, sports science and robotics. Wearable sensors for real-time gait monitoring have emerged as an ... ...

Abstract	Gait analysis refers to the systematic study of human locomotion and finds numerous applications in the fields of clinical monitoring, rehabilitation, sports science and robotics. Wearable sensors for real-time gait monitoring have emerged as an attractive alternative to the traditional clinical-based techniques, owing to their low cost and portability. In addition, 3D printing technology has recently drawn increased interest for the manufacturing of sensors, considering the advantages of diminished fabrication cost and time. In this study, we report the development of a 3D-printed capacitive smart insole for the measurement of plantar pressure. Initially, a novel 3D-printed capacitive pressure sensor was fabricated and its sensing performance was evaluated. The sensor exhibited a sensitivity of 1.19 MPa−1, a wide working pressure range (<872.4 kPa), excellent stability and durability (at least 2.280 cycles), great linearity (R2=0.993), fast response/recovery time (142−160 ms), low hysteresis (DH<10%) and the ability to support a broad spectrum of gait speeds (30−70 steps/min). Subsequently, 16 pressure sensors were integrated into a 3D-printed smart insole that was successfully applied for dynamic plantar pressure mapping and proven able to distinguish the various gait phases. We consider that the smart insole presented here is a simple, easy to manufacture and cost-effective solution with the potential for real-world applications.
MeSH term(s)	Humans ; Pressure ; Gait ; Gait Analysis ; Shoes ; Printing, Three-Dimensional
Language	English
Publishing date	2022-12-12
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2052857-7
ISSN	1424-8220 ; 1424-8220
ISSN (online)	1424-8220
ISSN	1424-8220
DOI	10.3390/s22249725
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Article: Under Pressure: A Comparative Study of

Makris, Georgios / Nikoloudakis, Nikolaos / Samaras, Anastasios / Karaoglanidis, Georgios S / Kanetis, Loukas I

Phytopathology

2022 Volume 112, Issue 10, Page(s) 2236–2247

Abstract: The highly heterogeneous nature ... ...

Abstract	The highly heterogeneous nature of
MeSH term(s)	Biphenyl Compounds ; Botrytis/genetics ; Cyprus ; Drug Resistance, Fungal/genetics ; Fragaria ; Fungicides, Industrial/pharmacology ; Greece ; Niacinamide/analogs & derivatives ; Organic Agriculture ; Plant Diseases ; Strobilurins ; Thiophanate
Chemical Substances	Biphenyl Compounds ; Fungicides, Industrial ; Strobilurins ; Niacinamide (25X51I8RD4) ; 2-chloro-N-(4-chlorobiphenyl-2-yl)nicotinamide (32MS8ZRD1V) ; Thiophanate (5Q0Y96D5I8) ; pyrachlostrobin (DJW8M9OX1H)
Language	English
Publishing date	2022-09-19
Publishing country	United States
Document type	Journal Article
ZDB-ID	208889-7
ISSN	1943-7684 ; 0031-949X
ISSN (online)	1943-7684
ISSN	0031-949X
DOI	10.1094/PHYTO-12-21-0510-R
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