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Article ; Online: Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.

Méaux, Marie-Noëlle / Harambat, Jérôme / Rothenbuhler, Anya / Léger, Juliane / Kamenicky, Peter / Soskin, Sylvie / Boyer, Olivia / Boros, Emese / D'Anella, Pascal / Mignot, Brigitte / Gebhart, Maite / Vic, Philippe / Richard, Nicolas / Thivichon-Prince, Béatrice / Francou, Bruno / Linglart, Agnès / Bacchetta, Justine / Molin, Arnaud

The Journal of clinical endocrinology and metabolism

2022 Volume 108, Issue 4, Page(s) 812–826

Abstract: ... in 19 families (homozygous state in 58% [11/19]). The partial loss-of-function variation p.(Ala129Thr ...

Abstract	Introduction: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare genetic disease associated with loss-of-function variations in the gene encoding the vitamin D-activating enzyme 1α-hydroxylase (CYP27B1). Phenotype-genotype correlation is unclear. Long-term outcome data are lacking. The objective of this study was to describe characteristics and outcomes to search for a phenotype-genotype correlation. Methods: We retrospectively collected clinical data, genetic features, and outcomes from 24 genetically confirmed cases from 10 French centers; results are presented as median (min-max). Results: Clinical symptoms at diagnosis (age, 1.5 [0.5-8.7] years) were mainly bone and neurological abnormalities, and laboratory data showed hypocalcemia (1.97 [1.40-2.40] mmol/L), hypophosphatemia (-3.4 [-13.4 to (-)0.2] SD score for age), low 25OHD and low 1,25(OH)2D3, secondary hyperparathyroidism with PTH at 6.6 (1.3-13.7) times the upper limit for normal (ULN; PTH expressed as ULN to homogenize data presentation), and increased alkaline phosphatase (1968 [521-7000] IU/L). Bone radiographs were abnormal in 83% of patients. We identified 17 variations (11 missense, 3 frameshift, 2 truncating, and 1 acceptor splice site variations) in 19 families (homozygous state in 58% [11/19]). The partial loss-of-function variation p.(Ala129Thr) was associated with a milder phenotype: older age at diagnosis, higher serum calcium (2.26 vs 1.85 mmol/L), lower PTH (4.7 vs 7.5 ULN), and lower alkaline phosphatase (759 vs 2082 IU/L). Patients were treated with alfacalcidol. Clinical (skeletal, neurological), biochemical, and radiological outcomes were satisfactory, and complications occurred if there was bad adherence. Conclusion: Overall, our findings highlight good outcomes under substitutive treatment and the need of a closer follow-up of eyes, teeth, kidneys, and blood pressure in VDDR1A.
MeSH term(s)	Humans ; 25-Hydroxyvitamin D3 1-alpha-Hydroxylase/genetics ; Alkaline Phosphatase/genetics ; Alkaline Phosphatase/therapeutic use ; Retrospective Studies ; Rickets/genetics ; Familial Hypophosphatemic Rickets/diagnosis ; Vitamin D/therapeutic use ; Phenotype ; Genotype
Chemical Substances	25-Hydroxyvitamin D3 1-alpha-Hydroxylase (EC 1.14.15.18) ; Alkaline Phosphatase (EC 3.1.3.1) ; Vitamin D (1406-16-2) ; CYP27B1 protein, human (EC 1.14.15.18)
Language	English
Publishing date	2022-11-02
Publishing country	United States
Document type	Journal Article
ZDB-ID	3029-6
ISSN	1945-7197 ; 0021-972X
ISSN (online)	1945-7197
ISSN	0021-972X
DOI	10.1210/clinem/dgac639
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Article ; Online: Endoplasmic reticulum stress: major player in size-dependent inhibition of P-glycoprotein by silver nanoparticles in multidrug-resistant breast cancer cells.

Gopisetty, Mohana Krishna / Kovács, Dávid / Igaz, Nóra / Rónavári, Andrea / Bélteky, Péter / Rázga, Zsolt / Venglovecz, Viktória / Csoboz, Bálint / Boros, Imre Miklós / Kónya, Zoltán / Kiricsi, Mónika

Journal of nanobiotechnology

2019 Volume 17, Issue 1, Page(s) 9

Abstract: ... the nanoparticle size-dependent cellular events directing P-glycoprotein (Pgp) expression and activity in MDR ...

Abstract	Background: Development of multidrug resistance (MDR) is a major burden of successful chemotherapy, therefore, novel approaches to defeat MDR are imperative. Although the remarkable anti-cancer propensity of silver nanoparticles (AgNP) has been demonstrated and their potential application in MDR cancer has been proposed, the nanoparticle size-dependent cellular events directing P-glycoprotein (Pgp) expression and activity in MDR cancer have never been addressed. Hence, in the present study we examined AgNP size-dependent cellular features in multidrug resistant breast cancer cells. Results: In this study we report that 75 nm AgNPs inhibited significantly Pgp efflux activity in drug-resistant breast cancer cells and potentiated the apoptotic effect of doxorubicin, which features were not observed upon 5 nm AgNP treatment. Although both sized AgNPs induced significant ROS production and mitochondrial damage, 5 nm AgNPs were more potent than 75 nm AgNPs in this respect, therefore, these effects can not to be accounted for the reduced transport activity of ATP-driven pumps observed after 75 nm AgNP treatments. Instead we found that 75 nm AgNPs depleted endoplasmic reticulum (ER) calcium stores, caused notable ER stress and decreased plasma membrane positioning of Pgp. Conclusion: Our study suggests that AgNPs are potent inhibitors of Pgp function and are promising agents for sensitizing multidrug resistant breast cancers to anticancer drugs. This potency is determined by their size, since 75 nm AgNPs are more efficient than smaller counterparts. This is a highly relevant finding as it renders AgNPs attractive candidates in rational design of therapeutically useful agents for tumor targeting. In the present study we provide evidence that exploitation of ER stress can be a propitious target in defeating multidrug resistance in cancers.
MeSH term(s)	ATP Binding Cassette Transporter, Subfamily B, Member 1/antagonists & inhibitors ; Antineoplastic Agents/therapeutic use ; Breast Neoplasms/drug therapy ; Drug Resistance, Multiple/drug effects ; Endoplasmic Reticulum/drug effects ; Endoplasmic Reticulum Stress/drug effects ; Female ; Humans ; MCF-7 Cells ; Metal Nanoparticles ; Particle Size ; Silver/pharmacology
Chemical Substances	ATP Binding Cassette Transporter, Subfamily B, Member 1 ; Antineoplastic Agents ; Silver (3M4G523W1G)
Language	English
Publishing date	2019-01-22
Publishing country	England
Document type	Journal Article
ISSN	1477-3155
ISSN (online)	1477-3155
DOI	10.1186/s12951-019-0448-4
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Article ; Online: Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives.

Brachet, Cécile / Gernay, Caroline / Boros, Emese / Soblet, Julie / Vilain, Catheline / Heinrichs, Claudine

Journal of pediatric endocrinology & metabolism : JPEM

2020 Volume 33, Issue 9, Page(s) 1237–1240

Abstract: ... of individuals heterozygous for a p.R31C GNRH1 mutation. Case presentation The patient is an index case ... fertility. The index case is homozygous for a p.R31H GNRH1 variant, both parents being heterozygous ... patients with the p.R31H mutation are from Turkish origin. The question of the possible role ...

Abstract	Objectives Congenital hypogonadotropic hypogonadism (CHH) is a rare condition resulting from GnRH deficiency. Gonadotropin Releasing Hormone 1 (GNRH1) homozygous mutations are an extremely rare cause of normosmic CHH (nCHH). Most heterozygous individuals are asymptomatic, with the notable exception of individuals heterozygous for a p.R31C GNRH1 mutation. Case presentation The patient is an index case from a consanguineous family, presenting with severe CHH and his parents presenting with late puberty and normal fertility. The index case is homozygous for a p.R31H GNRH1 variant, both parents being heterozygous. The analysis of a panel of genes implicated in CHH does not show any other clinically relevant variant in any other gene tested. Conclusions GNRH1 mutations are a rare cause of nCHH. Five different mutations have been reported so far in homozygous individuals. Most are frameshift in nature but the one reported here causes an amino acid change in the Gonadotropin-releasing hormone (GnRH) decapeptide. Both independently reported patients with the p.R31H mutation are from Turkish origin. The question of the possible role of this mutation in the late puberty of the heterozygous parents needs further documentation. An analogy is made with the heterozygous individuals carrying the p.R31C and displaying partial CHH. No nonreproductive disorder is noted.
MeSH term(s)	Adolescent ; Adult ; Female ; Gonadotropin-Releasing Hormone/genetics ; Heterozygote ; Homozygote ; Humans ; Hypogonadism/congenital ; Hypogonadism/genetics ; Hypogonadism/pathology ; Infant ; Male ; Mutation ; Prognosis ; Protein Precursors/genetics ; Puberty, Delayed/genetics ; Young Adult
Chemical Substances	Protein Precursors ; progonadoliberin I ; Gonadotropin-Releasing Hormone (33515-09-2)
Language	English
Publishing date	2020-08-19
Publishing country	Germany
Document type	Case Reports
ZDB-ID	1231070-0
ISSN	2191-0251 ; 0334-018X
ISSN (online)	2191-0251
ISSN	0334-018X
DOI	10.1515/jpem-2020-0207
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Article ; Online: Estimation method for carbonate in natural alkaline soda lake-waters

Boroș, Emil

MethodsX. 2023, v. 10 p.102175-

2023

Abstract: Natural, inland alkaline soda waters form a particular type of saline waters, characterized by a permanent alkaline chemical property. In many cases only the total alkalinity by methyl-orange titration is reported, without phenolphthalein titration. ... ...

Abstract	Natural, inland alkaline soda waters form a particular type of saline waters, characterized by a permanent alkaline chemical property. In many cases only the total alkalinity by methyl-orange titration is reported, without phenolphthalein titration. Therefore, a reliable estimation of carbonates from total alkalinity is essential for a precise scientific chemical classification. The concentration of bicarbonate [HCO₃‒] can be reliably estimated in waters using the Advanced Speciation Method (ASM) if methyl-orange total alkalinity titration and pH data are available, while the concentration of carbonate [CO₃²‒] is not reliably estimated by the ASM when interfering factors with acid/base properties (e.g., phosphate, silicate, ammonia, etc.) are present in significant concentrations in natural waters. Therefore, here I present and prove an experimental polynomial function for carbonate estimation with the following equation based on the concentration of bicarbonate: [CO₃²‒] = -2.878E-7 ± 5.438E-8 × [HCO₃‒]² + 0.069±0.003 × [HCO₃‒] This Boros's carbonate estimation method can contribute to a more efficient evaluation of field water samples with several analytical difficulties.•Bicarbonate can be reliably estimated using the Advanced Speciation Method (ASM).•Estimation of the carbonate concentration using ASM in the presence of interfering acid/base factors in alkaline waters.•Experimental polynomial function for reliable carbonate estimation in alkaline soda waters.
Keywords	alkalinity ; ammonia ; bicarbonates ; carbonates ; equations ; methyl orange ; pH ; phenolphthaleins ; phosphates ; silicates ; titration ; Alkaline inland waters ; Central Europe ; East Africa ; Experimental estimation ; Ion balance ; Methyl-orange acid titration ; Phenolphthalein acid titration ; Total alkalinity ; Soda lakes ; Soda pans ; Boros's carbonate estimation method
Language	English
Publishing place	Elsevier B.V.
Document type	Article ; Online
Note	Use and reproduction
ZDB-ID	2830212-6
ISSN	2215-0161
ISSN	2215-0161
DOI	10.1016/j.mex.2023.102175
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Generalized estimation of nutrient loading of waterbirds on inland aquatic ecosystems

Boroș, Emil

MethodsX. 2021, v. 8 p.101465-

2021

Abstract: ... method, the carbon (C), nitrogen (N) and phosphorus (P) loading of waterbirds on aquatic ecosystems ... can be estimated by determining the abundance of waterbird populations and the nutrient content (C, N, P ... mean of abundance of waterbird species for each month, E (g/day/ind.): the daily net rate of C, N, P ...

Abstract	Estimating the nutrient loading of aquatic bird is complicated because it is fundamentally dependent on several biological, environmental and methodological factors. The new Boros's generalized method is relatively easy to use based on the conventional bird counting and implemented excrement (faecal) analyses by integrated daily net rates data (g/day/ind.). According to the Boros's generalized method, the carbon (C), nitrogen (N) and phosphorus (P) loading of waterbirds on aquatic ecosystems can be estimated by determining the abundance of waterbird populations and the nutrient content (C, N, P) of their excrement. Weekly total loading of waterbirds = Σ species (A × E × RTF × D), where: A (ind./m²): the daily mean of abundance of waterbird species for each month, E (g/day/ind.): the daily net rate of C, N, P in the excrement of each species, RTF: the daily residency time factor (hours spent on soda pans/24 h) of each species in the target habitat, D (n days): the number of days of each month.•Waterbirds can cause extreme guanotrophication (max. 2500 mg P/m²/y) in waters.•The nutrient loading of waterbirds can be estimated by abundance of waterbirds.•Boros's method estimates the carbon, nitrogen and phosphorus loading of waterbirds.
Keywords	carbon ; excreta ; habitats ; nitrogen ; nutrient content ; phosphorus ; water birds ; Boros's generalized method ; Aquatic birds ; Guanotrophication ; Bird excrement ; Bird faeces ; Carbon loading ; Nitrogen loading ; Phosphorus loading ; Bird abundance ; Time factor ; Annual loading
Language	English
Publishing place	Elsevier B.V.
Document type	Article ; Online
ZDB-ID	2830212-6
ISSN	2215-0161
ISSN	2215-0161
DOI	10.1016/j.mex.2021.101465
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Article ; Online: Classification method for quantification of waterbird nutrient cycling guilds

Boroș, Emil

MethodsX. 2021, v. 8 p.101597-

2021

Abstract: This classification method for quantification of waterbird nutrient cycling guilds focuses on the location of feeding habitats and the quantitative role of waterbirds in the nutrient and energy flow for inland aquatic ecosystems. The classification is a ... ...

Abstract	This classification method for quantification of waterbird nutrient cycling guilds focuses on the location of feeding habitats and the quantitative role of waterbirds in the nutrient and energy flow for inland aquatic ecosystems. The classification is a complex integration of the taxonomic, trophic, feeding and daily habitat use patterns based on most relevant previous studies and reference data in relation with the ecology and nutrient cycling of waterbirds: A) Net-importer guild: includes species which feed mostly outside inland waters in the terrestrial ecosystems and wetlands, but use water bodies as gathering and roosting sites (geese, cranes). B) Importer-exporter guild: includes species which feed both outside and in of inland waters and wetlands (dabbling ducks and gulls). C) Net-exporter guild: includes species which feed mostly on inland waters and wetlands (diving ducks, grebes, cormorants, small herons, most shorebirds). Conclusion of main findings that method can significantly contribute to the better understanding how waterbirds can effect the environment and the guilds as ecological indicators quantify their ecosystem functions, services.•Net-importer guild includes species which feed mostly outside the inland waters•Importer-exporter guild includes species which feed both in- and outside inland waters•Net-exporter guild includes species which feed mostly inside the inland waters
Keywords	ecosystems ; energy flow ; habitat preferences ; water birds ; Aquatic ecosystems ; Ecological indicators ; Importer-exporter waterbird guild ; Inland waters ; Net-exporter waterbird guild ; Net-importer waterbird guild ; Nutrient loading ; Waterbird feeding guild ; Waterbird trophic guild ; Wetlands ; Boros's guild methods
Language	English
Publishing place	Elsevier B.V.
Document type	Article ; Online
ZDB-ID	2830212-6
ISSN	2215-0161
ISSN	2215-0161
DOI	10.1016/j.mex.2021.101597
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Article: Generalized estimation of nutrient loading of waterbirds on inland aquatic ecosystems.

Boros, Emil

MethodsX

2021 Volume 8, Page(s) 101465

Abstract	Estimating the nutrient loading of aquatic bird is complicated because it is fundamentally dependent on several biological, environmental and methodological factors. The new Boros's generalized method is relatively easy to use based on the conventional bird counting and implemented excrement (faecal) analyses by integrated daily net rates data (g/day/ind.). According to the Boros's generalized method, the carbon (C), nitrogen (N) and phosphorus (P) loading of waterbirds on aquatic ecosystems can be estimated by determining the abundance of waterbird populations and the nutrient content (C, N, P) of their excrement. Weekly total loading of waterbirds = Σ species (A × E × RTF × D), where: A (ind./m
Language	English
Publishing date	2021-07-21
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2830212-6
ISSN	2215-0161
ISSN	2215-0161
DOI	10.1016/j.mex.2021.101465
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Article ; Online: Waterbird guilds predict environmental attributes of inland saline aquatic ecosystems on multi-spatial scales

Boroș, Emil / Inelova, Zarina / Lánczos, Zsuzsanna / Végvári, Zsolt

Science of the Total Environment. 2023 Jan., v. 855 p.158845-

2023

Abstract: Inland saline waters in Central Asia constitute an important part of steppe ecosystems, providing considerable ecological functions and ecosystem services. Here we aim to present a multi-spatial scale analysis of nutrient cycling and transport waterbird ... ...

Abstract	Inland saline waters in Central Asia constitute an important part of steppe ecosystems, providing considerable ecological functions and ecosystem services. Here we aim to present a multi-spatial scale analysis of nutrient cycling and transport waterbird guilds, and the environmental attributes of saline-soda aquatic ecosystems in Kazakhstan. The density, biomass, and diversity of waterbird guilds was determined in the case of three nutrient cycling and transport guilds: a) net-importer (IM), b) importer-exporter (IMEX), c) net-exporter (EX), according to the Boros's guild classification method, and for several traditional feeding guilds: carnivorous, herbivorous, invertebrate eater, omnivorous and piscivorous. Our results revealed that waterbird guilds, as predictors represented by the complete waterbird community, are in close relationship with several (N = 12) environmental attributes of inland saline waters through complex trophic linkages of waterbird populations on multi-spatial scales. The density and the biomass of the EX and IMEX guilds are strongly and positively correlated (i) with the productivity metrics of habitats (e.g., CHL, GPP), indicating their trophic position, and (ii) with water depth. We found significant correlations among guild density, biomass, diversity and environmental attributes on multi-spatial scales for IMEX and EX. Our results revealed that IMEX predicts the surrounding environment of aquatic habitats, whereas EX species are substantial environmental predictors of aquatic ecosystems. However, the diversity metric had valid models only with EX. The herbivorous and omnivorous guilds, that feed chiefly on plant materials consist mainly of IMEX and EX duck species, which were positively related to grassland coverage and the shoreline development index. As a methodological result, here we present a novel approach, the guild transport index, which has more robust relationships with environmental attributes than individual guilds, thus it provides a complex evaluation of the nutrient cycling by birds between aquatic and terrestrial environments on multi-spatial scales.
Keywords	biomass ; ducks ; ecosystems ; environment ; herbivores ; invertebrates ; omnivores ; piscivores ; shorelines ; steppes ; water birds ; Kazakhstan ; Boros's method ; Central Asia ; Guild transport index ; Nutrient cycling by birds ; Ordinary least squares models
Language	English
Dates of publication	2023-01
Publishing place	Elsevier B.V.
Document type	Article ; Online
Note	Use and reproduction
ZDB-ID	121506-1
ISSN	1879-1026 ; 0048-9697
ISSN (online)	1879-1026
ISSN	0048-9697
DOI	10.1016/j.scitotenv.2022.158845
Database	NAL-Catalogue (AGRICOLA)

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Article: Expression of GMP-140 (P-selectin) correlates with graft viability in cold-preserved rat livers.

Basile, J / Wang, L / Tarcsafalvi, A / Han, R / Boros, P / Miller, C M

Transplantation

2000 Volume 69, Issue 11, Page(s) 2440–2442

Abstract: Background: Ischemia/reperfusion injury is an inflammatory process involving cytokine release, Kupffer cell activation, and sinusoidal endothelial cell activation. GMP-140 is synthesized by endothelial cells.: Methods: We analyzed by Western blotting ...

Abstract	Background: Ischemia/reperfusion injury is an inflammatory process involving cytokine release, Kupffer cell activation, and sinusoidal endothelial cell activation. GMP-140 is synthesized by endothelial cells. Methods: We analyzed by Western blotting the expression of GMP-140 in a syngeneic rat liver transplantation model using grafts preserved for different periods of time. Results: Compared with prereperfusion samples, expression did not change significantly in freshly harvested and 4-hr preserved livers. In grafts preserved for 24 hr (100% survival), GMP-140 levels increased dramatically at 1 hr, then returned to baseline at 24 hr after transplantation. Forty-eight hour preserved grafts (0% survival) showed a decreasing expression. To identify possible mediators, the effects of tumor necrosis factor-alpha and interleukin-1beta on GMP-140 expression in primary sinusoidal endothelial cells were analyzed. These cytokines increased both the percentage of stained cells as well as their mean staining fluorescence. Conclusions: The absence of increase in 48-hr grafts suggests that GMP-140 may distinguish viable from nonviable livers.
MeSH term(s)	Animals ; Cells, Cultured ; Cryopreservation ; Graft Survival/drug effects ; In Vitro Techniques ; Interleukin-1/pharmacology ; Liver/cytology ; Liver/drug effects ; Liver/metabolism ; Liver/physiopathology ; Liver Transplantation ; Male ; P-Selectin/metabolism ; Rats ; Rats, Inbred Lew ; Thrombin/pharmacology ; Tissue Distribution ; Tumor Necrosis Factor-alpha/pharmacology
Chemical Substances	Interleukin-1 ; P-Selectin ; Tumor Necrosis Factor-alpha ; Thrombin (EC 3.4.21.5)
Language	English
Publishing date	2000-06-15
Publishing country	United States
Document type	Journal Article
ZDB-ID	208424-7
ISSN	1534-6080 ; 0041-1337
ISSN (online)	1534-6080
ISSN	0041-1337
DOI	10.1097/00007890-200006150-00039
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Zs.MO 509: Show issues

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Article ; Online: P.014 VASCULAR MARKERS OF PREMATURE ATHEROSCLEROSIS IN PAEDIATRIC SYSTEMIC LUPUS ERYTHEMATOSUS AND DISEASE, THERAPY, METABOLIC AND INFLAMMATORY CORRELATES

T. Bradley* / L. Nukumizu / C. Boros / C. Slorach / P. Tyrrell / M. Cheung / B. McCrindle / E. Silverman

Artery Research, Vol 1, Iss

2007 Volume 1

Keywords	Specialties of internal medicine ; RC581-951 ; Diseases of the circulatory (Cardiovascular) system ; RC666-701
Language	English
Publishing date	2007-06-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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