@article{MTMT:30593669,
	title = {Plasma alpha-L-fucosidase activity in chronic inflammation and autoimmune disorders in a pediatric cohort of hospitalized patients},
	url = {https://m2.mtmt.hu/api/publication/30593669},
	author = {Endreffy, Ildikó and Bjørklund, Geir and Szerafin, László and Chirumbolo, Salvatore and Urbina, Mauricio A and Börcsökné Endreffy, Emőke},
	doi = {10.1007/s12026-017-8943-x},
	journal-iso = {IMMUNOL RES},
	journal = {IMMUNOLOGIC RESEARCH},
	volume = {65},
	unique-id = {30593669},
	issn = {0257-277X},
	abstract = {Human α-fucosidase (EC 3.2.1.51) is an enzyme (hydrolase) of particular biological and medical interest, as the inherited deficiency in its activity leads to fucosidosis, a pathology belonging to severe glycoprotein lysosomal storage disorders. Although its importance has increased in latest years, data about its plasma level in children with inflammatory disorders are still lacking. In the present study, plasma activity of α-L-fucosidase-1 (FUCA-1) and its potential association with chronic inflammatory pathologies was evaluated in hospitalized individuals, both pediatric and adult ones. A number of 201 Hungarian hospitalized patients, 144 children (1-13 years) and 57 adults (31-88 years), were enrolled in the study and underwent plasma assay of FUCA-1 activity, following the normal routine analytical run in the hospital service. Regression and Pearson tests were evaluated to investigate the relationship between FUCA-1 plasma levels and inflammatory disorders diagnosed with subjects recruited in the study. No correlation of FUCA-1 activity was observed in the pediatric patients with immune (p = 0.9677) or metabolic (p = 0.6974) disorders, but a correlation was reported when comparing clusters of chronic inflammatory and autoimmune disease vs. controls (p < 0.05). Furthermore, a relationship was found between FUCA-1 activity in plasma and inflammatory disorders and autoimmunity both in adults and in the pediatric cohort of patients (Pearson test, p = 0.000148). Alterations in plasma levels of FUCA-1 were significantly associated with chronic inflammatory and autoimmune disorders, both in children and adults. The result of the present study should encourage further research on FUCA-1 as a marker of chronic inflammation and autoimmunity.},
	keywords = {CHILDREN; chronic inflammation; Autoimmune disorders; Alpha l-fucosidase; Fucosidosis},
	year = {2017},
	eissn = {1559-0755},
	pages = {1025-1030},
	orcid-numbers = {Börcsökné Endreffy, Emőke/0000-0002-2695-6495}
}

@article{MTMT:26751983,
	title = {Transancestral mapping and genetic load in systemic lupus erythematosus},
	url = {https://m2.mtmt.hu/api/publication/26751983},
	author = {Langefeld, Carl D and Ainsworth, Hannah C and Graham, Deborah S Cunninghame and Kelly, Jennifer A and Comeau, Mary E and Marion, Miranda C and Howard, Timothy D and Ramos, Paula S and Croker, Jennifer A and Morris, David L and Sandling, Johanna K and Almlof, Jonas Carlsson and Acevedo-Vasquez, Eduardo M and Alarcon, Graciela S and Babini, Alejandra M and Baca, Vicente and Bengtsson, Anders A and Berbotto, Guillermo A and Bijl, Marc and Brown, Elizabeth E and Brunner, Hermine I and Cardiel, Mario H and Catoggio, Luis and Cervera, Ricard and Cucho-Venegas, Jorge M and Dahlqvist, Solbritt Rantapaa and D'Alfonso, Sandra and Da, Silva Berta Martins and de la, Rua Figueroa Inigo and Doria, Andrea and Edberg, Jeffrey C and Börcsökné Endreffy, Emőke and Esquivel-Valerio, Jorge A and Fortin, Paul R and Freedman, Barry I and Frostegard, Johan and Garcia, Mercedes A and Garcia, de la Torre Ignacio and Gilkeson, Gary S and Gladman, Dafna D and Gunnarsson, Iva and Guthridge, Joel M and Huggins, Jennifer L and James, Judith A and Kallenberg, Cees G M and Kamen, Diane L and Karp, David R and Kaufman, Kenneth M and Kottyan, Leah C and Kovács, László and Laustrup, Helle and Lauwerys, Bernard R and Li, Quan-Zhen and Maradiaga-Cecena, Marco A and Martin, Javier and McCune, Joseph M and McWilliams, David R and Merrill, Joan T and Miranda, Pedro and Moctezuma, Jose F and Nath, Swapan K and Niewold, Timothy B and Orozco, Lorena and Ortego-Centeno, Norberto and Petri, Michelle and Pineau, Christian A and Pons-Estel, Bernardo A and Pope, Janet and Raj, Prithvi and Ramsey-Goldman, Rosalind and Reveille, John D and Russell, Laurie P and Sabio, Jose M and Aguilar-Salinas, Carlos A and Scherbarth, Hugo R and Scorza, Raffaella and Seldin, Michael F and Sjowall, Christopher and Svenungsson, Elisabet and Thompson, Susan D and Toloza, Sergio M A and Truedsson, Lennart and Tusie-Luna, Teresa and Vasconcelos, Carlos and Vila, Luis M and Wallace, Daniel J and Weisman, Michael H and Wither, Joan E and Bhangale, Tushar and Oksenberg, Jorge R and Rioux, John D and Gregersen, Peter K and Syvanen, Ann-Christine and Ronnblom, Lars and Criswell, Lindsey A and Jacob, Chaim O and Sivils, Kathy L and Tsao, Betty P and Schanberg, Laura E and Behrens, Timothy W and Silverman, Earl D and Alarcon-Riquelme, Marta E and Kimberly, Robert P and Harley, John B and Wakeland, Edward K and Graham, Robert R and Gaffney, Patrick M and Vyse, Timothy J},
	doi = {10.1038/ncomms16021},
	journal-iso = {NAT COMMUN},
	journal = {NATURE COMMUNICATIONS},
	volume = {8},
	unique-id = {26751983},
	issn = {2041-1723},
	year = {2017},
	eissn = {2041-1723},
	orcid-numbers = {Börcsökné Endreffy, Emőke/0000-0002-2695-6495; Kovács, László/0000-0003-4457-1430}
}

@article{MTMT:3119513,
	title = {Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA},
	url = {https://m2.mtmt.hu/api/publication/3119513},
	author = {Zhao, J and Giles, BM and Taylor, RL and Yette, GA and Lough, KM and Ng, HL and Abraham, LJ and Wu, H and Kelly, JA and Glenn, SB and Adler, AJ and Williams, AH and Comeau, ME and Ziegler, JT and Marion, M and Alarcón-Riquelme, ME and Alarcón, GS and Anaya, JM and Bae, SC and Kim, D and Lee, HS and Criswell, LA and Freedman, BI and Gilkeson, GS and Guthridge, JM and Jacob, CO and James, JA and Kamen, DL and Merrill, JT and Sivils, KM and Niewold, TB and Petri, MA and Ramsey-Goldman, R and Reveille, JD and Scofield, RH and Stevens, AM and Vilá, LM and Vyse, TJ and Kaufman, KM and Harley, JB and Langefeld, CD and Gaffney, PM and Brown, EE and Edberg, JC and Kimberly, RP and Ulgiati, D and Tsao, BP and Boackle, SA},
	doi = {10.1136/annrheumdis-2014-205584},
	journal-iso = {ANN RHEUM DIS},
	journal = {ANNALS OF THE RHEUMATIC DISEASES},
	volume = {75},
	unique-id = {3119513},
	issn = {0003-4967},
	abstract = {Objectives Systemic lupus erythematosus (SLE; OMIM 152700) is characterised by the production of antibodies to nuclear antigens. We previously identified variants in complement receptor 2 (CR2/CD21) that were associated with decreased risk of SLE. This study aimed to identify the causal variant for this association. Methods Genotyped and imputed genetic variants spanning CR2 were assessed for association with SLE in 15 750 case-control subjects from four ancestral groups. Allele-specific functional effects of associated variants were determined using quantitative real-time PCR, quantitative flow cytometry, electrophoretic mobility shift assay (EMSA) and chromatin immunoprecipitation (ChIP)-PCR. Results The strongest association signal was detected at rs1876453 in intron 1 of CR2 (pmeta=4.2×10-4, OR 0.85), specifically when subjects were stratified based on the presence of dsDNA autoantibodies (case-control pmeta=7.6×10-7, OR 0.71; case-only pmeta=1.9×10-4, OR 0.75). Although allele-specific effects on B cell CR2 mRNA or protein levels were not identified, levels of complement receptor 1 (CR1/CD35) mRNA and protein were significantly higher on B cells of subjects harbouring the minor allele (p=0.0248 and p=0.0006, respectively). The minor allele altered the formation of several DNA protein complexes by EMSA, including one containing CCCTC-binding factor (CTCF), an effect that was confirmed by ChIP-PCR. Conclusions These data suggest that rs1876453 in CR2 has long-range effects on gene regulation that decrease susceptibility to lupus. Since the minor allele at rs1876453 is preferentially associated with reduced risk of the highly specific dsDNA autoantibodies that are present in preclinical, active and severe lupus, understanding its mechanisms will have important therapeutic implications.},
	keywords = {CHROMATIN IMMUNOPRECIPITATION; ARTICLE; ALLELE; Pathogenesis; human; Genotype; Genetic variability; genetic association; priority journal; major clinical study; controlled study; Flow Cytometry; unclassified drug; messenger rna; b lymphocyte; complement component C3b receptor; systemic lupus erythematosus; case control study; intron; real time polymerase chain reaction; gel mobility shift assay; double stranded DNA antibody; complement receptor; dna protein complex; complement receptor 2; transcription factor CTCF},
	year = {2016},
	eissn = {1468-2060},
	pages = {242-252},
	orcid-numbers = {Börcsökné Endreffy, Emőke/0000-0002-2695-6495; Kovács, László/0000-0003-4457-1430}
}

@article{MTMT:3117951,
	title = {Acid glycosaminoglycan (aGAG) excretion is increased in children with autism spectrum disorder, and it can be controlled by diet},
	url = {https://m2.mtmt.hu/api/publication/3117951},
	author = {Endreffy, I and Bjørklund, G and Dicső, F and Urbina, MA and Börcsökné Endreffy, Emőke},
	doi = {10.1007/s11011-015-9745-2},
	journal-iso = {METAB BRAIN DIS},
	journal = {METABOLIC BRAIN DISEASE},
	volume = {31},
	unique-id = {3117951},
	issn = {0885-7490},
	abstract = {Autism research continues to receive considerable attention as the options for successful management are limited. The understanding of the autism spectrum disorder (ASD) etiology has now progressed to encompass genetic, epigenetic, neurological, hormonal, and environmental factors that affect outcomes for patients with ASD. Glycosaminoglycans (GAGs) are a family of linear, sulfated polysaccharides that are associated with central nervous system (CNS) development, maintenance, and disorders. Proteoglycans (PG) regulate diverse functions in the central nervous system. Heparan sulfate (HS) and chondroitin sulfate (CS) are two major GAGs present in the PGs of the CNS. As neuroscience advances, biochemical treatments to correct brain chemistry become better defined. Nutrient therapy can be very potent and has minimal to no side effects, since no molecules foreign to the body are needed. Given GAGs are involved in several neurological functions, and that its level can be somewhat modulated by the diet, the present study aimed to evaluate the role of GAGs levels in ASD symptoms. Both tGAG and its different fractions were evaluated in the urine of ASD and healthy control childrens. As levels differed between groups, a second trial was conduted evaluating if diet could reduce tGAG levels and if this in turn decrease ASD symptoms. The present study found that tGAG concentration was significantly higher in the urine of children with ASD compared to healthy control children and this was also evident in all GAG fractions. Within groups (controls and ASD), no gender differences in GAG excretion were found. The use of a 90 days elimination diet (casein-free, special carbohydrates, multivitamin/mineral supplement), had major effects in reducing urinary tGAG excretion in children with ASD. © 2015, Springer Science+Business Media New York.},
	keywords = {Adolescent; Female; Male; ARTICLE; human; Child; major clinical study; controlled study; autism; sex difference; NUTRITION; childhood disease; vitamin supplementation; Hyaluronic Acid; Proteoglycans; Glycosaminoglycans; urinalysis; chondroitin 6 sulfate; uronic acid; epigenetics; dermatan sulfate; heparan sulfate; potential difference; keratan sulfate; mineral supplementation; chondroitin 4 sulfate; acid glycosaminoglycan; Neurodevelopment disorders},
	year = {2016},
	eissn = {1573-7365},
	pages = {273-278},
	orcid-numbers = {Börcsökné Endreffy, Emőke/0000-0002-2695-6495}
}

@article{MTMT:3049694,
	title = {Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders},
	url = {https://m2.mtmt.hu/api/publication/3049694},
	author = {Kovács, Gábor and Kalmár, Tibor and Börcsökné Endreffy, Emőke and Ondrik, Zoltán and Iványi, Béla and Rikker, C and Haszon, Ibolya and Túri, Sándor and Sinko, M and Bereczki, Csaba and Maróti, Zoltán},
	doi = {10.1371/journal.pone.0149241},
	journal-iso = {PLOS ONE},
	journal = {PLOS ONE},
	volume = {11},
	unique-id = {3049694},
	issn = {1932-6203},
	abstract = {Alport syndrome (AS) is an inherited type IV collagen nephropathies characterized by microscopic hematuria during early childhood, the development of proteinuria and progression to end-stage renal disease. Since choosing the right therapy, even before the onset of proteinuria, can delay the onset of end-stage renal failure and improve life expectancy, the earliest possible differential diagnosis is desired. Practically, this means the identification of mutation(s) in COL4A3-A4-A5 genes. We used an efficient, next generation sequencing based workflow for simultaneous analysis of all three COL4A genes in three individuals and fourteen families involved by AS or showing different level of Alport-related symptoms. We successfully identified mutations in all investigated cases, including 14 unpublished mutations in our Hungarian cohort. We present an easy to use unified clinical/diagnostic terminology and workflow not only for X-linked but for autosomal AS, but also for Alport-related diseases. In families where a diagnosis has been established by molecular genetic analysis, the renal biopsy may be rendered unnecessary.},
	year = {2016},
	eissn = {1932-6203},
	orcid-numbers = {Kalmár, Tibor/0000-0002-0419-2009; Börcsökné Endreffy, Emőke/0000-0002-2695-6495; Bereczki, Csaba/0000-0003-0091-3558; Maróti, Zoltán/0000-0002-0515-117X}
}

@article{MTMT:3119532,
	title = {Genetic associations of leptin-related polymorphisms with systemic lupus erythematosus},
	url = {https://m2.mtmt.hu/api/publication/3119532},
	author = {Zhao, J and Wu, H and Langefeld, CD and Kaufman, KM and Kelly, JA and Bae, S-C and Alarcón-Riquelme, ME and Alarcón, GS and Anaya, J-M and Criswell, LA and Freedman, BI and Kamen, DL and Gilkeson, GS and Jacob, CO and James, JA and Merrill, JT and Gaffney, PM and Sivils, KM and Niewold, TB and Petri, MA and Song, ST and Jeong, H-J and Ramsey-Goldman, R and Reveille, JD and Hal, Scofield R and Stevens, AM and Boackle, SA and Vilá, LM and Chang, D-M and Song, YW and Vyse, TJ and Harley, JB and Brown, EE and Edberg, JC and Kimberly, RP and Hahn, BH and Grossman, JM and Tsao, BP and La Cava, A and BIOLUPUS, and GENLES networks},
	doi = {10.1016/j.clim.2015.09.007},
	journal-iso = {CLIN IMMUNOL},
	journal = {CLINICAL IMMUNOLOGY},
	volume = {161},
	unique-id = {3119532},
	issn = {1521-6616},
	abstract = {Leptin is abnormally elevated in the plasma of patients with systemic lupus erythematosus (SLE), where it is thought to promote and/or sustain pro-inflammatory responses. Whether this association could reflect an increased genetic susceptibility to develop SLE is not known, and studies of genetic associations with leptin-related polymorphisms in SLE patients have been so far inconclusive. Here we genotyped DNA samples from 15,706 SLE patients and healthy matched controls from four different ancestral groups, to correlate polymorphisms of genes of the leptin pathway to risk for SLE. It was found that although several SNPs showed weak associations, those associations did not remain significant after correction for multiple testing. These data do not support associations between defined leptin-related polymorphisms and increased susceptibility to develop SLE. © 2015 Elsevier Inc.},
	keywords = {Inflammation; GENE; GENE POLYMORPHISMS; ARTICLE; single nucleotide polymorphism; human; Genotype; genetic association; genetic susceptibility; genetic risk; priority journal; major clinical study; controlled study; DNA determination; leptin; systemic lupus erythematosus; African American; European American; Hispanic; PPARG gene; LEPR gene; LEP gene; GHSR gene; East Asian; Leptin pathway},
	year = {2015},
	eissn = {1521-7035},
	pages = {157-162},
	orcid-numbers = {Börcsökné Endreffy, Emőke/0000-0002-2695-6495; Kovács, László/0000-0003-4457-1430}
}

@{MTMT:2965905,
	title = {Multifaktoriális öröklődésű kórképek},
	url = {https://m2.mtmt.hu/api/publication/2965905},
	author = {Börcsökné Endreffy, Emőke and Ilyés, István and Oláh, Éva and Paragh, György},
	booktitle = {Klinikai genetika},
	unique-id = {2965905},
	year = {2015},
	pages = {321-351},
	orcid-numbers = {Börcsökné Endreffy, Emőke/0000-0002-2695-6495}
}

@article{MTMT:2886833,
	title = {PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6},
	url = {https://m2.mtmt.hu/api/publication/2886833},
	author = {Oparina, NY and Delgado-Vega, AM and Martinez-Bueno, M and Magro-Checa, C and Fernandez, C and Castro, RO and Pons-Estel, BA and D'Alfonso, S and Sebastiani, GD and Witte, T and Lauwerys, BR and Börcsökné Endreffy, Emőke and Kovács, László and Escudero, A and Lopez-Pedrera, C and Vasconcelos, C and da Silva, BM and Frostegard, J and Truedsson, L and Martin, J and Raya, E and Ortego-Centeno, N and de Los, Angeles Aguirre M and de Ramon, Garrido E and Palma, MJ and Alarcon-Riquelme, ME and Kozyrev, SV},
	doi = {10.1136/annrheumdis-2013-204909},
	journal-iso = {ANN RHEUM DIS},
	journal = {ANNALS OF THE RHEUMATIC DISEASES},
	volume = {74},
	unique-id = {2886833},
	issn = {0003-4967},
	abstract = {OBJECTIVES: To perform fine mapping of the PXK locus associated with systemic lupus erythematosus (SLE) and study functional effects that lead to susceptibility to the disease. METHODS: Linkage disequilibrium (LD) mapping was conducted by using 1251 SNPs (single nucleotide polymorphism) covering a 862 kb genomic region on 3p14.3 comprising the PXK locus in 1467 SLE patients and 2377 controls of European origin. Tag SNPs and genotypes imputed with IMPUTE2 were tested for association by using SNPTEST and PLINK. The expression QTLs data included three independent datasets for lymphoblastoid cells of European donors: HapMap3, MuTHER and the cross-platform eQTL catalogue. Correlation analysis of eQTLs was performed using Vassarstats. Alternative splicing for the PXK gene was analysed on mRNA from PBMCs. RESULTS: Fine mapping revealed long-range LD (>200 kb) extended over the ABHD6, RPP14, PXK, and PDHB genes on 3p14.3. The highly correlated variants tagged an SLE-associated haplotype that was less frequent in the patients compared with the controls (OR=0.89, p=0.00684). A robust correlation between the association with SLE and enhanced expression of ABHD6 gene was revealed, while neither expression, nor splicing alterations associated with SLE susceptibility were detected for PXK. The SNP allele frequencies as well as eQTL pattern analysed in the CEU and CHB HapMap3 populations indicate that the SLE association and the effect on ABHD6 expression are specific to Europeans. CONCLUSIONS: These results confirm the genetic association of the locus 3p14.3 with SLE in Europeans and point to the ABHD6 and not PXK, as the major susceptibility gene in the region. We suggest a pathogenic mechanism mediated by the upregulation of ABHD6 in individuals carrying the SLE-risk variants.},
	year = {2015},
	eissn = {1468-2060},
	orcid-numbers = {Börcsökné Endreffy, Emőke/0000-0002-2695-6495; Kovács, László/0000-0003-4457-1430}
}

@article{MTMT:2807591,
	title = {Impact of single nucleotide polymorphisms of cytarabine metabolic genes on drug toxicity in childhood acute lymphoblastic leukemia},
	url = {https://m2.mtmt.hu/api/publication/2807591},
	author = {Gábor, Krisztina and Schermann, G and Lautner-Csorba, Orsolya and Rárosi, Ferenc and Erdélyi, Dániel and Börcsökné Endreffy, Emőke and Berek, K and Bartyik, Katalin and Bereczki, Csaba and Szalai, Csaba and Semsei F, Ágnes},
	doi = {10.1002/pbc.25379},
	journal-iso = {PEDIATR BLOOD CANCER},
	journal = {PEDIATRIC BLOOD & CANCER},
	volume = {62},
	unique-id = {2807591},
	issn = {1545-5009},
	abstract = {BACKGROUND: Cytarabine (cytosine arabinoside, ara-C) is a chemotherapeutical agent used in the treatment of pediatric acute lymphoblastic leukemia (ALL). Adverse drug reactions, such as interpatient variability in sensitivity to ara-C, are considerable and may cause difficulties during chemotherapy. Single nucleotide polymorphisms (SNPs) can play a significant role in modifying nucleoside-drug pharmacokinetics and pharmacodynamics and thus the development of adverse effects. Our aim was to determine whether polymorphisms in genes encoding transporters and enzymes responsible for the metabolism of ara-C are associated with toxicity and clinical outcome in a patient population with childhood ALL. PROCEDURE: We studied 8 SNPs in the CDA, DCK, DCTD, SLC28A3, and SLC29A1 genes in 144 patients with childhood acute lymphoblastic leukemia treated according to ALLIC BFM 1990, 1995 and 2002 protocols. RESULTS: DCK rs12648166 and DCK rs4694362 SNPs were associated with hematologic toxicity (OR = 2.63, CI 95% = 1.37-5.04, P = 0.0036 and OR = 2.53, CI 95% = 1.34-4.80, P = 0.0044, respectively). CONCLUSIONS: Our results indicate that DCK polymorphisms might be important genetic risk factors for hematologic toxicity during ALL treatment with ara-C. Individualized chemotherapy based on genetic profiling may help to optimize ara-C dosing, leading to improvements in clinical outcome and reduced toxicity. Pediatr Blood Cancer 2014;9999:1-7(c) 2015 Wiley Periodicals, Inc.},
	year = {2015},
	eissn = {1545-5017},
	pages = {622-628},
	orcid-numbers = {Gábor, Krisztina/0000-0002-2473-1356; Rárosi, Ferenc/0000-0002-1014-9242; Erdélyi, Dániel/0000-0001-5544-9209; Börcsökné Endreffy, Emőke/0000-0002-2695-6495; Bereczki, Csaba/0000-0003-0091-3558; Szalai, Csaba/0000-0001-6562-0778; Semsei F, Ágnes/0000-0002-8709-2459}
}

@article{MTMT:2715723,
	title = {Lack of replication of higher genetic risk load in men than in women with systemic lupus erythematosus},
	url = {https://m2.mtmt.hu/api/publication/2715723},
	author = {Alonso-Perez, Elisa and Suarez-Gestal, Marian and Calaza, Manuel and J Blanco, Francisco and Suarez, Ana and Jose Santos, Maria and Papasteriades, Chryssa and Carreira, Patricia and Pullmann, Rudolf and Ordi-Ros, Josep and Marchini, Maurizio and N Skopouli, Fotini and Bijl, Marc and Barrizone, Nadia and Domenico Sebastiani, Gian and Migliaresi, Sergio and Witte, Torsten and R Lauwerys, Bernard and Kovács, Attila and Ruzickova, Sarka and J Gomez-Reino, Juan and Gonzalez, Antonio},
	doi = {10.1186/ar4585},
	journal-iso = {ARTHRITIS RES THER},
	journal = {ARTHRITIS RESEARCH & THERAPY},
	volume = {16},
	unique-id = {2715723},
	issn = {1478-6354},
	year = {2014},
	eissn = {1478-6362},
	orcid-numbers = {Börcsökné Endreffy, Emőke/0000-0002-2695-6495}
}