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Article ; Online: Description of the new HLA-A*11:288 allele found in a healthy individual from the Canary Islands.

Balas, Antonio / López-Hernández, Ruth / Moreno-Hidalgo, Miguel A / Sanchez-García, Florentino / Vicario, José L

2018 Volume 92, Issue 4, Page(s) 239–240

Abstract: A new HLA-A allele, A*11:288, was characterized in a Spanish individual from the Canary Islands. ...

Abstract	A new HLA-A allele, A*11:288, was characterized in a Spanish individual from the Canary Islands.
MeSH term(s)	Alleles ; Amino Acid Sequence ; HLA-A Antigens/genetics ; Humans ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA/methods ; Sequence Homology ; Spain ; Tissue Donors
Chemical Substances	HLA-A Antigens
Language	English
Publishing date	2018-09-04
Publishing country	England
Document type	Journal Article
ZDB-ID	2845111-9
ISSN	2059-2310 ; 2059-2302
ISSN (online)	2059-2310
ISSN	2059-2302
DOI	10.1111/tan.13367
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Article ; Online: In-Out-Test: A New Paradigm for Sorting the Wheat from the Chaff in Prodromal Alzheimer's Disease.

Torrealba, Eduardo / Garcia-Morales, Pilar / Cejudo, Juan Carlos / Diaz, Mario / Rodriguez-Esparragon, Francisco / Fabre, Oscar / Mesa-Herrera, Fatima / Marin, Raquel / Sanchez-Garcia, Florentino / Rodriguez-Perez, Aurelio / Gramunt, Nina

Journal of Alzheimer's disease : JAD

2018 Volume 67, Issue 1, Page(s) 265–277

Abstract: Background: Assessment of hippocampal amnesia is helpful to distinguish between normal cognition and mild cognitive impairment (MCI), but not for identifying converters to dementia. Here biomarkers are useful but novel neuropsychological approaches are ... ...

Abstract	Background: Assessment of hippocampal amnesia is helpful to distinguish between normal cognition and mild cognitive impairment (MCI), but not for identifying converters to dementia. Here biomarkers are useful but novel neuropsychological approaches are needed in their absence. The In-out-test assesses episodic memory using a new paradigm hypothesized to avoid reliance on executive function, which may compensate for damaged memory networks. Objective: To assess the validity of the In-out-test in identifying prodromal Alzheimer's disease (PAD) in a clinical setting, by comparing this to the Free and Cued Selective Reminding Test (FCSRT) and cerebrospinal fluid biomarkers. Methods: A cross-sectional study of 32 cognitively healthy, 32 MCI, and 30 progressive dementia subjects. All participants were given both the In-out-test and the FCSRT; 40 of them also received a lumbar puncture. Results: Internal consistency was demonstrated using Cronbach Alpha (r = 0.81) and Inter-rater reliability with Kappa (k = 0.94). Intraclass correlation (ICC) for test-retest reliability: r = 0.57 (p = 0.57). ICC between the In-out-test and FCSRT r = 0.87 (p = 0.001). ICC between the In-out-test and Aβ42 and P-tau/Aβ42 for controls: 0.73 and 0.75, respectively; P-tau for MCI: 0.77 and total sample: 0.70; Aβ42 for dementia: 0.71. All ICC measures between FCSRT and biomarkers were ≤0.264. AD diagnosis: In-out-test k = 0.71; FCSRT k = 0.49. PAD diagnosis (N = 35): In-out-test k = 0.69; FCSRT k = 0.44. Conclusions: The In-out-test detected prodromal AD with a higher degree of accuracy than a conventional hippocampal-based memory test. These results suggest that this new paradigm could be of value in clinical settings, predicting which patients with MCI will go on to develop AD.
MeSH term(s)	Aged ; Aged, 80 and over ; Alzheimer Disease/cerebrospinal fluid ; Alzheimer Disease/diagnosis ; Amyloid beta-Peptides/cerebrospinal fluid ; Biomarkers/cerebrospinal fluid ; Cognitive Dysfunction/cerebrospinal fluid ; Cognitive Dysfunction/diagnosis ; Cross-Sectional Studies ; Cues ; Female ; Humans ; Male ; Memory Disorders/diagnosis ; Memory, Episodic ; Middle Aged ; Neuropsychological Tests ; Peptide Fragments/cerebrospinal fluid ; Reproducibility of Results ; tau Proteins/cerebrospinal fluid
Chemical Substances	Amyloid beta-Peptides ; Biomarkers ; Peptide Fragments ; amyloid beta-protein (1-40) ; tau Proteins
Language	English
Publishing date	2018-12-07
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Validation Study
ZDB-ID	1440127-7
ISSN	1875-8908 ; 1387-2877
ISSN (online)	1875-8908
ISSN	1387-2877
DOI	10.3233/JAD-171007
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Article ; Online: High-resolution characterization of allelic and haplotypic HLA frequency distribution in a Spanish population using high-throughput next-generation sequencing.

Montero-Martín, Gonzalo / Mallempati, Kalyan C / Gangavarapu, Sridevi / Sánchez-Gordo, Francisco / Herrero-Mata, Maria J / Balas, Antonio / Vicario, Jose L / Sánchez-García, Florentino / González-Escribano, Maria F / Muro, Manuel / Moya-Quiles, Maria R / González-Fernández, Rafael / Ocejo-Vinyals, Javier G / Marín, Luis / Creary, Lisa E / Osoegawa, Kazutoyo / Vayntrub, Tamara / Caro-Oleas, Jose L / Vilches, Carlos /

Planelles, Dolores / Fernández-Viña, Marcelo A

Human immunology

2019 Volume 80, Issue 7, Page(s) 429–436

Abstract: Next-generation sequencing (NGS) at the HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, -DRB1 and -DRB3/4/5 loci was performed on 282 healthy unrelated individuals from different major regions of Spain. High-resolution HLA genotypes defined by full sequencing ...

Abstract	Next-generation sequencing (NGS) at the HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, -DRB1 and -DRB3/4/5 loci was performed on 282 healthy unrelated individuals from different major regions of Spain. High-resolution HLA genotypes defined by full sequencing of class I loci and extended coverage of class II loci were obtained to determine allele frequencies and also to estimate extended haplotype frequencies. HLA alleles were typed at the highest resolution level (4-field level, 4FL); with exception of a minor deviation in HLA-DPA1, no statistically significant deviations from expected Hardy Weinberg Equilibrium (HWE) proportions were observed for all other HLA loci. This study provides new 4FL-allele and -haplotype frequencies estimated for the first time in the Spanish population. Furthermore, our results describe extended haplotypes (including the less frequently typed HLA-DPA1 and HLA-DQA1 loci) and show distinctive haplotype associations found at 4FL-allele definition in this Spanish population study. The distinctive allelic and haplotypic diversity found at the 4FL reveals the high level of heterozygosity and specific haplotypic associations displayed that were not apparent at 2-field level (2FL). Overall, these results may contribute as a useful reference source for future population studies, for HLA-disease association studies as a healthy control group dataset and for improving donor recruitment strategies of bone marrow registries. HLA genotyping data of this Spanish population cohort was also included in the 17th International Histocompatibility and Immunogenetics Workshop (IHIW) as part of the study of HLA diversity in unrelated worldwide populations using NGS.
MeSH term(s)	Cohort Studies ; Exons/genetics ; Gene Frequency/genetics ; Genetic Loci ; Genetic Variation ; Genotype ; HLA Antigens/genetics ; Haplotypes/genetics ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Histocompatibility Antigens Class I/genetics ; Histocompatibility Antigens Class II/genetics ; Histocompatibility Testing ; Homozygote ; Humans ; Linkage Disequilibrium/genetics ; Sequence Analysis, DNA ; Spain
Chemical Substances	HLA Antigens ; Histocompatibility Antigens Class I ; Histocompatibility Antigens Class II
Language	English
Publishing date	2019-02-11
Publishing country	United States
Document type	Journal Article
ZDB-ID	801524-7
ISSN	1879-1166 ; 0198-8859
ISSN (online)	1879-1166
ISSN	0198-8859
DOI	10.1016/j.humimm.2019.02.005
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Article ; Online: HLA-DRB1*15:01 allele protects from asthma susceptibility.

Pino-Yanes, María / Corrales, Almudena / Acosta-Herrera, Marialbert / Pérez-Rodríguez, Eva / Cumplido, José / Campo, Paloma / Barreto-Luis, Amalia / Sánchez-García, Florentino / Felipe, Tobías / Sánchez-Machín, Inmaculada / Quintela, Inés / García-Robaina, José Carlos / Villar, Jesús / Blanca, Miguel / Carracedo, Angel / Carrillo, Teresa / Flores, Carlos

The Journal of allergy and clinical immunology

2014 Volume 134, Issue 5, Page(s) 1201–1203

MeSH term(s)	Alleles ; Asthma/genetics ; Asthma/immunology ; Female ; Genetic Predisposition to Disease ; HLA-DRB1 Chains/genetics ; HLA-DRB1 Chains/immunology ; Humans ; Male ; Polymorphism, Single Nucleotide
Chemical Substances	HLA-DRB1 Chains ; HLA-DRB1*15:01 antigen
Language	English
Publishing date	2014-11
Publishing country	United States
Document type	Letter ; Research Support, Non-U.S. Gov't
ZDB-ID	121011-7
ISSN	1097-6825 ; 1085-8725 ; 0091-6749
ISSN (online)	1097-6825 ; 1085-8725
ISSN	0091-6749
DOI	10.1016/j.jaci.2014.05.031
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Article ; Online: Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease.

Dalmasso, Maria Carolina / Brusco, Luis Ignacio / Olivar, Natividad / Muchnik, Carolina / Hanses, Claudia / Milz, Esther / Becker, Julian / Heilmann-Heimbach, Stefanie / Hoffmann, Per / Prestia, Federico A / Galeano, Pablo / Avalos, Mariana Soledad Sanchez / Martinez, Luis Eduardo / Carulla, Mariana Estela / Azurmendi, Pablo Javier / Liberczuk, Cynthia / Fezza, Cristina / Sampaño, Marcelo / Fierens, Maria /

Jemar, Guillermo / Solis, Patricia / Medel, Nancy / Lisso, Julieta / Sevillano, Zulma / Bosco, Paolo / Bossù, Paola / Spalletta, Gianfranco / Galimberti, Daniela / Mancuso, Michelangelo / Nacmias, Benedetta / Sorbi, Sandro / Mecocci, Patrizia / Pilotto, Alberto / Caffarra, Paolo / Panza, Francesco / Bullido, Maria / Clarimon, Jordi / Sánchez-Juan, Pascual / Coto, Eliecer / Sanchez-Garcia, Florentino / Graff, Caroline / Ingelsson, Martin / Bellenguez, Céline / Castaño, Eduardo Miguel / Kairiyama, Claudia / Politis, Daniel Gustavo / Kochen, Silvia / Scaro, Horacio / Maier, Wolfgang / Jessen, Frank / Mangone, Carlos Alberto / Lambert, Jean-Charles / Morelli, Laura / Ramirez, Alfredo

Translational psychiatry

2019 Volume 9, Issue 1, Page(s) 55

Abstract: Rare coding variants in TREM2, PLCG2, and ABI3 were recently associated with the susceptibility to Alzheimer's disease (AD) in Caucasians. Frequencies and AD-associated effects of variants differ across ethnicities. To start filling the gap on AD ... ...

Abstract	Rare coding variants in TREM2, PLCG2, and ABI3 were recently associated with the susceptibility to Alzheimer's disease (AD) in Caucasians. Frequencies and AD-associated effects of variants differ across ethnicities. To start filling the gap on AD genetics in South America and assess the impact of these variants across ethnicity, we studied these variants in Argentinian population in association with ancestry. TREM2 (rs143332484 and rs75932628), PLCG2 (rs72824905), and ABI3 (rs616338) were genotyped in 419 AD cases and 486 controls. Meta-analysis with European population was performed. Ancestry was estimated from genome-wide genotyping results. All variants show similar frequencies and odds ratios to those previously reported. Their association with AD reach statistical significance by meta-analysis. Although the Argentinian population is an admixture, variant carriers presented mainly Caucasian ancestry. Rare coding variants in TREM2, PLCG2, and ABI3 also modulate susceptibility to AD in populations from Argentina, and they may have a European heritage.
MeSH term(s)	Adaptor Proteins, Signal Transducing/genetics ; African Continental Ancestry Group/genetics ; Aged ; Aged, 80 and over ; Alzheimer Disease/ethnology ; Alzheimer Disease/genetics ; Argentina/ethnology ; European Continental Ancestry Group/genetics ; Female ; Genetic Predisposition to Disease ; Genetic Variation ; Genome-Wide Association Study ; Genotype ; Humans ; Indians, North American/genetics ; Male ; Membrane Glycoproteins/genetics ; Middle Aged ; Phospholipase C gamma/genetics ; Receptors, Immunologic/genetics
Chemical Substances	ABI3 protein, human ; Adaptor Proteins, Signal Transducing ; Membrane Glycoproteins ; Receptors, Immunologic ; TREM2 protein, human ; Phospholipase C gamma (EC 3.1.4.3)
Language	English
Publishing date	2019-01-31
Publishing country	United States
Document type	Journal Article ; Meta-Analysis ; Research Support, Non-U.S. Gov't
ZDB-ID	2609311-X
ISSN	2158-3188 ; 2158-3188
ISSN (online)	2158-3188
ISSN	2158-3188
DOI	10.1038/s41398-019-0394-9
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Article: Butyrylcholinesterase, ApoE and Alzheimer's disease in a population from the Canary Islands (Spain).

Déniz-Naranjo, Maria Cándida / Muñoz-Fernández, Carmen / Alemany-Rodríguez, Maria Jesús / del Carmen Pérez-Vieitez, Maria / Aladro-Benito, Yolanda / Irurita-Latasa, Juncal / Sánchez-García, Florentino

Neuroscience letters

2007 Volume 427, Issue 1, Page(s) 34–38

Abstract: Aim: Cholinergic dysfunction is a major neurochemical feature in Alzheimer's disease (AD), accountable for many cognitive dysfunctions and some psychiatric symptoms. Butyrylcholinesterase (BChE) is one of the cholinesterases with increased activity in ... ...

Abstract	Aim: Cholinergic dysfunction is a major neurochemical feature in Alzheimer's disease (AD), accountable for many cognitive dysfunctions and some psychiatric symptoms. Butyrylcholinesterase (BChE) is one of the cholinesterases with increased activity in the brain of Alzheimer's patients. Several mutations code for different BChE, such as the K variant, which is the most common and is capable of reducing BChE activity by 30%. We studied the relationship between this K variant and Alzheimer's disease in our population from the Canary Islands (Spain). Patients and methods: We used DNA PCR-RFLP techniques to compare 282 patients who had been diagnosed with probable Alzheimer's disease--according to NINCS-ADRDA criteria--with 312 control subjects confirmed to be free of cognitive impairment as assessed by using the CAMDEX cognitive subscale CAMCOG. Results: In our population the K variant of BChE is linked to the age of diagnosis of Alzheimer's disease, since AD individuals with this allele presented the disease at a later stage. No other susceptibility relations are exposed in this study. In addition, the BChE allelic frequencies in our population are higher than those previously reported.
MeSH term(s)	Acetylcholine/metabolism ; Age of Onset ; Aged ; Aged, 80 and over ; Alzheimer Disease/enzymology ; Alzheimer Disease/ethnology ; Alzheimer Disease/genetics ; Apolipoproteins E/genetics ; Apolipoproteins E/metabolism ; Brain/enzymology ; Brain/physiopathology ; Brain Chemistry/genetics ; Butyrylcholinesterase/genetics ; Butyrylcholinesterase/metabolism ; Cohort Studies ; Continental Population Groups ; DNA Mutational Analysis ; Female ; Gene Frequency ; Genetic Markers/genetics ; Genetic Predisposition to Disease/genetics ; Genetic Testing ; Genotype ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic/genetics ; Spain/ethnology
Chemical Substances	Apolipoproteins E ; Genetic Markers ; Butyrylcholinesterase (EC 3.1.1.8) ; Acetylcholine (N9YNS0M02X)
Language	English
Publishing date	2007-10-29
Publishing country	Ireland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	194929-9
ISSN	1872-7972 ; 0304-3940
ISSN (online)	1872-7972
ISSN	0304-3940
DOI	10.1016/j.neulet.2007.08.059
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Article ; Online: Report from the Killer-cell Immunoglobulin-like Receptors (KIR) component of the 17th International HLA and Immunogenetics Workshop.

Misra, Maneesh K / Augusto, Danillo G / Martin, Gonzalo Montero / Nemat-Gorgani, Neda / Sauter, Jürgen / Hofmann, Jan A / Traherne, James A / González-Quezada, Betsy / Gorodezky, Clara / Bultitude, Will P / Marin, Wesley / Vierra-Green, Cynthia / Anderson, Kirsten M / Balas, Antonio / Caro-Oleas, Jose L / Cisneros, Elisa / Colucci, Francesco / Dandekar, Ravi / Elfishawi, Sally M /

Fernández-Viña, Marcelo A / Fouda, Merhan / González-Fernández, Rafael / Große, Arend / Herrero-Mata, Maria J / Hollenbach, Sam Q / Marsh, Steven G E / Mentzer, Alex / Middleton, Derek / Moffett, Ashley / Moreno-Hidalgo, Miguel A / Mossallam, Ghada I / Nakimuli, Annettee / Oksenberg, Jorge R / Oppenheimer, Stephen J / Parham, Peter / Petzl-Erler, Maria-Luiza / Planelles, Dolores / Sánchez-García, Florentino / Sánchez-Gordo, Francisco / Schmidt, Alexander H / Trowsdale, John / Vargas, Luciana B / Vicario, Jose L / Vilches, Carlos / Norman, Paul J / Hollenbach, Jill A

Human immunology

2018 Volume 79, Issue 12, Page(s) 825–833

Abstract: The goals of the KIR component of the 17th International HLA and Immunogenetics Workshop (IHIW) were to encourage and educate researchers to begin analyzing KIR at allelic resolution, and to survey the nature and extent of KIR allelic diversity across ... ...

Abstract	The goals of the KIR component of the 17th International HLA and Immunogenetics Workshop (IHIW) were to encourage and educate researchers to begin analyzing KIR at allelic resolution, and to survey the nature and extent of KIR allelic diversity across human populations. To represent worldwide diversity, we analyzed 1269 individuals from ten populations, focusing on the most polymorphic KIR genes, which express receptors having three immunoglobulin (Ig)-like domains (KIR3DL1/S1, KIR3DL2 and KIR3DL3). We identified 13 novel alleles of KIR3DL1/S1, 13 of KIR3DL2 and 18 of KIR3DL3. Previously identified alleles, corresponding to 33 alleles of KIR3DL1/S1, 38 of KIR3DL2, and 43 of KIR3DL3, represented over 90% of the observed allele frequencies for these genes. In total we observed 37 KIR3DL1/S1 allotypes, 40 for KIR3DL2 and 44 for KIR3DL3. As KIR allotype diversity can affect NK cell function, this demonstrates potential for high functional diversity worldwide. Allelic variation further diversifies KIR haplotypes. We determined KIR3DL3 ∼ KIR3DL1/S1 ∼ KIR3DL2 haplotypes from five of the studied populations, and observed multiple population-specific haplotypes in each. This included 234 distinct haplotypes in European Americans, 191 in Ugandans, 35 in Papuans, 95 in Egyptians and 86 in Spanish populations. For another 35 populations, encompassing 642,105 individuals we focused on KIR3DL2 and identified another 375 novel alleles, with approximately half of them observed in more than one individual. The KIR allelic level data gathered from this project represents the most comprehensive summary of global KIR allelic diversity to date, and continued analysis will improve understanding of KIR allelic polymorphism in global populations. Further, the wealth of new data gathered in the course of this workshop component highlights the value of collaborative, community-based efforts in immunogenetics research, exemplified by the IHIW.
MeSH term(s)	Gene Frequency ; Genetics, Population/methods ; Genotype ; HLA Antigens/genetics ; Haplotypes ; Humans ; Immunogenetics/methods ; Multigene Family ; Protein Isoforms/genetics ; Receptors, KIR/genetics ; Sequence Analysis, DNA
Chemical Substances	HLA Antigens ; Protein Isoforms ; Receptors, KIR
Language	English
Publishing date	2018-10-12
Publishing country	United States
Document type	Congress
ZDB-ID	801524-7
ISSN	1879-1166 ; 0198-8859
ISSN (online)	1879-1166
ISSN	0198-8859
DOI	10.1016/j.humimm.2018.10.003
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Article: Genetic basis of the latex-fruit syndrome: association with HLA class II alleles in a Spanish population.

Blanco, Carlos / Sánchez-García, Florentino / Torres-Galván, María-José / Dumpierrez, Antonio G / Almeida, Lourdes / Figueroa, Javier / Ortega, Nancy / Castillo, Rodolfo / Gallego, María-Dolores / Carrillo, Teresa

The Journal of allergy and clinical immunology

2004 Volume 114, Issue 5, Page(s) 1070–1076

Abstract: Background: The latex-fruit syndrome is a well-defined disorder whose genetic background has not been elucidated.: Objective: To study the genetic basis of the latex-fruit syndrome.: Methods: In a case-control study, we have investigated a ... ...

Abstract	Background: The latex-fruit syndrome is a well-defined disorder whose genetic background has not been elucidated. Objective: To study the genetic basis of the latex-fruit syndrome. Methods: In a case-control study, we have investigated a carefully selected group of patients allergic to latex, searching for association between latex-fruit allergy and HLA class I and II genes, HLA-DR functional groups, and markers IL4-R1 and FcepsilonRI-betaca . Results: Seventy-eight patients allergic to latex without spina bifida, 33% of them also allergic to fruits, were included in our protocol. Skin prick test results with both a commercial latex extract and purified hevein were significantly greater in patients allergic to latex and fruit than in patients allergic to latex and not fruit. A cutoff point of >7 mm for commercial latex skin prick test diagnosed latex-fruit allergy with a sensitivity of 66.7% (95% CI, 41.0-86.6) and a specificity of 83.3% (95% CI, 68.6-93.0) in our series of patients. No significant differences were found regarding HLA class I, IL4-R1 , or FcepsilonRI-betaca allele distributions. However, comparison of HLA class II allelic frequencies between patients allergic to latex and fruit and patients allergic to latex and not fruit showed significant associations of latex-fruit allergy with DQB1 0201 (corrected P value, .001; odds ratio, 7.3; 95% CI, 2.6-20.0), as well as with HLA-DR functional group E (corrected P value, .028; odds ratio, 16.0; 95% CI, 1.9-134.1). When comparing allelic distribution among different subgroups of patients allergic to latex, additional significant associations of latex-fruit allergy with DRB1 0301 and 0901, and of latex and not fruit allergy with DQB1 0202, DRB1 0701 and 1101, were demonstrated. Conclusions: Latex-fruit allergy is associated with HLA-DQB1 0201, DRB1 0301, and 0901, as well as with HLA-DR functional group E, whereas latex-not-fruit allergy is associated with DQB1 0202, and with both DRB1 0701 and 1101 alleles.
MeSH term(s)	Adult ; Alleles ; Female ; Food Hypersensitivity/genetics ; Fruit/immunology ; Genes, MHC Class I ; Genes, MHC Class II ; HLA-DR Antigens/genetics ; HLA-DRB1 Chains ; Humans ; Immunoglobulin E/blood ; Latex Hypersensitivity/genetics ; Male ; Middle Aged ; Prospective Studies ; Receptors, Interleukin-4/genetics ; Skin Tests
Chemical Substances	HLA-DR Antigens ; HLA-DRB1 Chains ; HLA-DRB1*03:01 antigen ; Receptors, Interleukin-4 ; Immunoglobulin E (37341-29-0)
Language	English
Publishing date	2004-11
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	121011-7
ISSN	1085-8725 ; 1097-6825 ; 0091-6749
ISSN (online)	1085-8725 ; 1097-6825
ISSN	0091-6749
DOI	10.1016/j.jaci.2004.06.022
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Article ; Online: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.

de Rojas, Itziar / Moreno-Grau, Sonia / Tesi, Niccolo / Grenier-Boley, Benjamin / Andrade, Victor / Jansen, Iris E / Pedersen, Nancy L / Stringa, Najada / Zettergren, Anna / Hernández, Isabel / Montrreal, Laura / Antúnez, Carmen / Antonell, Anna / Tankard, Rick M / Bis, Joshua C / Sims, Rebecca / Bellenguez, Céline / Quintela, Inés / González-Perez, Antonio /

Calero, Miguel / Franco-Macías, Emilio / Macías, Juan / Blesa, Rafael / Cervera-Carles, Laura / Menéndez-González, Manuel / Frank-García, Ana / Royo, Jose Luís / Moreno, Fermin / Huerto Vilas, Raquel / Baquero, Miquel / Diez-Fairen, Mónica / Lage, Carmen / García-Madrona, Sebastián / García-González, Pablo / Alarcón-Martín, Emilio / Valero, Sergi / Sotolongo-Grau, Oscar / Ullgren, Abbe / Naj, Adam C / Lemstra, Afina W / Benaque, Alba / Pérez-Cordón, Alba / Benussi, Alberto / Rábano, Alberto / Padovani, Alessandro / Squassina, Alessio / de Mendonça, Alexandre / Arias Pastor, Alfonso / Kok, Almar A L / Meggy, Alun / Pastor, Ana Belén / Espinosa, Ana / Corma-Gómez, Anaïs / Martín Montes, Angel / Sanabria, Ángela / DeStefano, Anita L / Schneider, Anja / Haapasalo, Annakaisa / Kinhult Ståhlbom, Anne / Tybjærg-Hansen, Anne / Hartmann, Annette M / Spottke, Annika / Corbatón-Anchuelo, Arturo / Rongve, Arvid / Borroni, Barbara / Arosio, Beatrice / Nacmias, Benedetta / Nordestgaard, Børge G / Kunkle, Brian W / Charbonnier, Camille / Abdelnour, Carla / Masullo, Carlo / Martínez Rodríguez, Carmen / Muñoz-Fernandez, Carmen / Dufouil, Carole / Graff, Caroline / Ferreira, Catarina B / Chillotti, Caterina / Reynolds, Chandra A / Fenoglio, Chiara / Van Broeckhoven, Christine / Clark, Christopher / Pisanu, Claudia / Satizabal, Claudia L / Holmes, Clive / Buiza-Rueda, Dolores / Aarsland, Dag / Rujescu, Dan / Alcolea, Daniel / Galimberti, Daniela / Wallon, David / Seripa, Davide / Grünblatt, Edna / Dardiotis, Efthimios / Düzel, Emrah / Scarpini, Elio / Conti, Elisa / Rubino, Elisa / Gelpi, Ellen / Rodriguez-Rodriguez, Eloy / Duron, Emmanuelle / Boerwinkle, Eric / Ferri, Evelyn / Tagliavini, Fabrizio / Küçükali, Fahri / Pasquier, Florence / Sanchez-Garcia, Florentino / Mangialasche, Francesca / Jessen, Frank / Nicolas, Gaël / Selbæk, Geir / Ortega, Gemma / Chêne, Geneviève / Hadjigeorgiou, Georgios / Rossi, Giacomina / Spalletta, Gianfranco / Giaccone, Giorgio / Grande, Giulia / Binetti, Giuliano / Papenberg, Goran / Hampel, Harald / Bailly, Henri / Zetterberg, Henrik / Soininen, Hilkka / Karlsson, Ida K / Alvarez, Ignacio / Appollonio, Ildebrando / Giegling, Ina / Skoog, Ingmar / Saltvedt, Ingvild / Rainero, Innocenzo / Rosas Allende, Irene / Hort, Jakub / Diehl-Schmid, Janine / Van Dongen, Jasper / Vidal, Jean-Sebastien / Lehtisalo, Jenni / Wiltfang, Jens / Thomassen, Jesper Qvist / Kornhuber, Johannes / Haines, Jonathan L / Vogelgsang, Jonathan / Pineda, Juan A / Fortea, Juan / Popp, Julius / Deckert, Jürgen / Buerger, Katharina / Morgan, Kevin / Fließbach, Klaus / Sleegers, Kristel / Molina-Porcel, Laura / Kilander, Lena / Weinhold, Leonie / Farrer, Lindsay A / Wang, Li-San / Kleineidam, Luca / Farotti, Lucia / Parnetti, Lucilla / Tremolizzo, Lucio / Hausner, Lucrezia / Benussi, Luisa / Froelich, Lutz / Ikram, M Arfan / Deniz-Naranjo, M Candida / Tsolaki, Magda / Rosende-Roca, Maitée / Löwenmark, Malin / Hulsman, Marc / Spallazzi, Marco / Pericak-Vance, Margaret A / Esiri, Margaret / Bernal Sánchez-Arjona, María / Dalmasso, Maria Carolina / Martínez-Larrad, María Teresa / Arcaro, Marina / Nöthen, Markus M / Fernández-Fuertes, Marta / Dichgans, Martin / Ingelsson, Martin / Herrmann, Martin J / Scherer, Martin / Vyhnalek, Martin / Kosmidis, Mary H / Yannakoulia, Mary / Schmid, Matthias / Ewers, Michael / Heneka, Michael T / Wagner, Michael / Scamosci, Michela / Kivipelto, Miia / Hiltunen, Mikko / Zulaica, Miren / Alegret, Montserrat / Fornage, Myriam / Roberto, Natalia / van Schoor, Natasja M / Seidu, Nazib M / Banaj, Nerisa / Armstrong, Nicola J / Scarmeas, Nikolaos / Scherbaum, Norbert / Goldhardt, Oliver / Hanon, Oliver / Peters, Oliver / Skrobot, Olivia Anna / Quenez, Olivier / Lerch, Ondrej / Bossù, Paola / Caffarra, Paolo / Dionigi Rossi, Paolo / Sakka, Paraskevi / Mecocci, Patrizia / Hoffmann, Per / Holmans, Peter A / Fischer, Peter / Riederer, Peter / Yang, Qiong / Marshall, Rachel / Kalaria, Rajesh N / Mayeux, Richard / Vandenberghe, Rik / Cecchetti, Roberta / Ghidoni, Roberta / Frikke-Schmidt, Ruth / Sorbi, Sandro / Hägg, Sara / Engelborghs, Sebastiaan / Helisalmi, Seppo / Botne Sando, Sigrid / Kern, Silke / Archetti, Silvana / Boschi, Silvia / Fostinelli, Silvia / Gil, Silvia / Mendoza, Silvia / Mead, Simon / Ciccone, Simona / Djurovic, Srdjan / Heilmann-Heimbach, Stefanie / Riedel-Heller, Steffi / Kuulasmaa, Teemu / Del Ser, Teodoro / Lebouvier, Thibaud / Polak, Thomas / Ngandu, Tiia / Grimmer, Timo / Bessi, Valentina / Escott-Price, Valentina / Giedraitis, Vilmantas / Deramecourt, Vincent / Maier, Wolfgang / Jian, Xueqiu / Pijnenburg, Yolande A L / Kehoe, Patrick Gavin / Garcia-Ribas, Guillermo / Sánchez-Juan, Pascual / Pastor, Pau / Pérez-Tur, Jordi / Piñol-Ripoll, Gerard / Lopez de Munain, Adolfo / García-Alberca, Jose María / Bullido, María J / Álvarez, Victoria / Lleó, Alberto / Real, Luis M / Mir, Pablo / Medina, Miguel / Scheltens, Philip / Holstege, Henne / Marquié, Marta / Sáez, María Eugenia / Carracedo, Ángel / Amouyel, Philippe / Schellenberg, Gerard D / Williams, Julie / Seshadri, Sudha / van Duijn, Cornelia M / Mather, Karen A / Sánchez-Valle, Raquel / Serrano-Ríos, Manuel / Orellana, Adelina / Tárraga, Lluís / Blennow, Kaj / Huisman, Martijn / Andreassen, Ole A / Posthuma, Danielle / Clarimón, Jordi / Boada, Mercè / van der Flier, Wiesje M / Ramirez, Alfredo / Lambert, Jean-Charles / van der Lee, Sven J / Ruiz, Agustín

Nature communications

2023 Volume 14, Issue 1, Page(s) 716

Language	English
Publishing date	2023-02-09
Publishing country	England
Document type	Published Erratum
ZDB-ID	2553671-0
ISSN	2041-1723 ; 2041-1723
ISSN (online)	2041-1723
ISSN	2041-1723
DOI	10.1038/s41467-023-36192-x
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.

Nature communications

2021 Volume 12, Issue 1, Page(s) 3417

Abstract: Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large ...

Abstract	Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery n = 409,435 and validation size n = 58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer's disease patients in APOE ɛ4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer's disease.
MeSH term(s)	Age of Onset ; Aged ; Aged, 80 and over ; Alzheimer Disease/epidemiology ; Alzheimer Disease/genetics ; Alzheimer Disease/pathology ; Amyloid beta-Protein Precursor/genetics ; Amyloid beta-Protein Precursor/metabolism ; Apolipoproteins E/genetics ; Case-Control Studies ; Cohort Studies ; Datasets as Topic ; Female ; Follow-Up Studies ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Heterozygote ; Humans ; Male ; Middle Aged ; Multifactorial Inheritance ; Polymorphism, Single Nucleotide ; Risk Assessment/methods ; Risk Factors
Chemical Substances	APP protein, human ; Amyloid beta-Protein Precursor ; Apolipoproteins E
Language	English
Publishing date	2021-06-07
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Validation Study
ZDB-ID	2553671-0
ISSN	2041-1723 ; 2041-1723
ISSN (online)	2041-1723
ISSN	2041-1723
DOI	10.1038/s41467-021-22491-8
Database	MEDical Literature Analysis and Retrieval System OnLINE

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