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Article ; Online: Common evolutionary origins of the bacterial glycyl tRNA synthetase and alanyl tRNA synthetase.

Alvarez-Carreño, Claudia / Arciniega, Marcelino / Ribas de Pouplana, Lluís / Petrov, Anton S / Hernández-González, Adriana / Dimas-Torres, Jorge-Uriel / Valencia-Sánchez, Marco Igor / Williams, Loren Dean / Torres-Larios, Alfredo

Protein science : a publication of the Protein Society

2023 Volume 33, Issue 3, Page(s) e4844

Abstract: Aminoacyl-tRNA synthetases (aaRSs) establish the genetic code. Each aaRS covalently links a given canonical amino acid to a cognate set of tRNA isoacceptors. Glycyl tRNA aminoacylation is unusual in that it is catalyzed by different aaRSs in different ... ...

Abstract	Aminoacyl-tRNA synthetases (aaRSs) establish the genetic code. Each aaRS covalently links a given canonical amino acid to a cognate set of tRNA isoacceptors. Glycyl tRNA aminoacylation is unusual in that it is catalyzed by different aaRSs in different lineages of the Tree of Life. We have investigated the phylogenetic distribution and evolutionary history of bacterial glycyl tRNA synthetase (bacGlyRS). This enzyme is found in early diverging bacterial phyla such as Firmicutes, Acidobacteria, and Proteobacteria, but not in archaea or eukarya. We observe relationships between each of six domains of bacGlyRS and six domains of four different RNA-modifying proteins. Component domains of bacGlyRS show common ancestry with (i) the catalytic domain of class II tRNA synthetases; (ii) the HD domain of the bacterial RNase Y; (iii) the body and tail domains of the archaeal CCA-adding enzyme; (iv) the anti-codon binding domain of the arginyl tRNA synthetase; and (v) a previously unrecognized domain that we call ATL (Ancient tRNA latch). The ATL domain has been found thus far only in bacGlyRS and in the universal alanyl tRNA synthetase (uniAlaRS). Further, the catalytic domain of bacGlyRS is more closely related to the catalytic domain of uniAlaRS than to any other aminoacyl tRNA synthetase. The combined results suggest that the ATL and catalytic domains of these two enzymes are ancestral to bacGlyRS and uniAlaRS, which emerged from common protein ancestors by bricolage, stepwise accumulation of protein domains, before the last universal common ancestor of life.
Language	English
Publishing date	2023-11-27
Publishing country	United States
Document type	Journal Article
ZDB-ID	1106283-6
ISSN	1469-896X ; 0961-8368
ISSN (online)	1469-896X
ISSN	0961-8368
DOI	10.1002/pro.4844
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Zs.A 3407: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article: Concordancia entre la gasometría arterial y venosa central en sujetos postoperados de cirugía de revascularización miocárdica en condición estable.

Santos-Martínez, Luis Efren / Guevara-Carrasco, Marlene / Naranjo-Ricoy, Guillermo / Baranda-Tovar, Francisco Martín / Moreno-Ruíz, Luis Antonio / Herrera-Velázquez, Marco Antonio / Magaña-Serrano, José Antonio / Valencia-Sánchez, Jesús Salvador / Calderón-Abbo, Moisés Cutiel

Archivos de cardiologia de Mexico

2014 Volume 84, Issue 3, Page(s) 147–154

Abstract: Objective: The concordance between the parameters of arterial and central venous blood gases has not been defined yet. We studied the concordance between both parameters in post-surgical myocardial revascularization patients in stable condition.: ... ...

Title translation	Concordance between central venous and arterial blood gases in post-surgical myocardial revascularization patients in stable condition.
Abstract	Objective: The concordance between the parameters of arterial and central venous blood gases has not been defined yet. We studied the concordance between both parameters in post-surgical myocardial revascularization patients in stable condition. Methods: Consecutive subjects were studied in a cross-sectional design. The position of the central venous catheter was performed and simultaneously we obtained arterial and central venous blood samples prior to discharge from the intensive care unit. Data are expressed according to Bland-Altman statistical method and the intraclass correlation coefficient. Statistical result was accepted at P<.05. Results: Two hundred and six samples were studied of 103 post-surgical patients, pH and lactate had a mean difference (limits of agreement) 0.029±0.048 (-0018, 0.077) and -0.12±0.22 (-0.57, 0.33) respectively. The magnitude of the intraclass correlation coefficient was 0.904 and 0.943 respectively. The values related to oxygen pressure were 27.86±6.08 (15.9, 39.8) and oxygen saturation 33.02±6.13 (21, 45), with magnitude of 0.258 and 0.418 respectively. Conclusion: The best matching parameters between arterial and central venous blood samples were pH and lactate.
MeSH term(s)	Arteries ; Blood Gas Analysis ; Cross-Sectional Studies ; Female ; Humans ; Intensive Care Units ; Male ; Middle Aged ; Myocardial Revascularization ; Postoperative Care ; Veins
Language	Spanish
Publishing date	2014-07
Publishing country	Mexico
Document type	English Abstract ; Journal Article
ZDB-ID	2047800-8
ISSN	1405-9940
ISSN	1405-9940
DOI	10.1016/j.acmx.2013.11.005
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Article ; Online: Musculoskeletal anatomy by self-examination: A learner-centered method for students and practitioners of musculoskeletal medicine.

Canoso, Juan J / Saavedra, Miguel Ángel / Pascual-Ramos, Virginia / Sánchez-Valencia, Marco Antonio / Kalish, Robert A

Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft

2019 Volume 228, Page(s) 151457

Abstract: Background: The authors describe a series of learner-centered exercises, highlighting a technique in which the musculoskeletal anatomy is explored and learned through self-examination, with the examiner required to identify designated structures in both ...

Abstract	Background: The authors describe a series of learner-centered exercises, highlighting a technique in which the musculoskeletal anatomy is explored and learned through self-examination, with the examiner required to identify designated structures in both the static and dynamic state. Methods: The technique of musculoskeletal anatomy through self-examination consists of applying knowledge of the surface anatomy of a region as it exists in the static state, to the analysis and understanding of changes that occur with movement and function of that body part. The sensory input of the examined part may contribute to the overall perception of the exercise. Results: Three tables provide details that allow the reader to understand and perform the exercises describing the anatomic part explored, the physical maneuver required, the expected anatomic finding(s), and their clinical relevance. Conclusions: The authors believe that musculoskeletal self-examination provides an engaging learner-centered pedagogy that may complement that which is learned in peer or model examination. The lack of cost, the absence of intimacy barriers, and the opportunity to extend the method to further areas and functions are additional benefits of musculoskeletal self-examination as a learner-centered, self-study methodology.
MeSH term(s)	Anatomy/education ; Humans ; Learning/classification ; Musculoskeletal System/anatomy & histology ; Self-Examination/methods ; Students
Language	English
Publishing date	2019-12-18
Publishing country	Germany
Document type	Journal Article
ZDB-ID	1106738-x
ISSN	1618-0402 ; 0940-9602
ISSN (online)	1618-0402
ISSN	0940-9602
DOI	10.1016/j.aanat.2019.151457
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Article: Control of translation and mRNA degradation by miRNAs and siRNAs.

Valencia-Sanchez, Marco Antonio / Liu, Jidong / Hannon, Gregory J / Parker, Roy

Genes & development

2006 Volume 20, Issue 5, Page(s) 515–524

Abstract: The control of translation and mRNA degradation is an important part of the regulation of gene expression. It is now clear that small RNA molecules are common and effective modulators of gene expression in many eukaryotic cells. These small RNAs that ... ...

Abstract	The control of translation and mRNA degradation is an important part of the regulation of gene expression. It is now clear that small RNA molecules are common and effective modulators of gene expression in many eukaryotic cells. These small RNAs that control gene expression can be either endogenous or exogenous micro RNAs (miRNAs) and short interfering RNAs (siRNAs) and can affect mRNA degradation and translation, as well as chromatin structure, thereby having impacts on transcription rates. In this review, we discuss possible mechanisms by which miRNAs control translation and mRNA degradation. An emerging theme is that miRNAs, and siRNAs to some extent, target mRNAs to the general eukaryotic machinery for mRNA degradation and translation control.
MeSH term(s)	Animals ; Eukaryotic Cells/metabolism ; Gene Expression ; MicroRNAs/genetics ; MicroRNAs/metabolism ; Protein Biosynthesis ; RNA Processing, Post-Transcriptional ; RNA, Messenger/metabolism ; RNA, Small Interfering/genetics ; RNA, Small Interfering/metabolism ; Transcription, Genetic
Chemical Substances	MicroRNAs ; RNA, Messenger ; RNA, Small Interfering
Language	English
Publishing date	2006-03-01
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	806684-x
ISSN	1549-5477 ; 0890-9369
ISSN (online)	1549-5477
ISSN	0890-9369
DOI	10.1101/gad.1399806
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Zs.A 2292: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article: MicroRNA-dependent localization of targeted mRNAs to mammalian P-bodies.

Liu, Jidong / Valencia-Sanchez, Marco Antonio / Hannon, Gregory J / Parker, Roy

Nature cell biology

2005 Volume 7, Issue 7, Page(s) 719–723

Abstract: Small RNAs, including small interfering RNAs (siRNAs) and microRNAs (miRNAs) can silence target genes through several different effector mechanisms. Whereas siRNA-directed mRNA cleavage is increasingly understood, the mechanisms by which miRNAs repress ... ...

Abstract	Small RNAs, including small interfering RNAs (siRNAs) and microRNAs (miRNAs) can silence target genes through several different effector mechanisms. Whereas siRNA-directed mRNA cleavage is increasingly understood, the mechanisms by which miRNAs repress protein synthesis are obscure. Recent studies have revealed the existence of specific cytoplasmic foci, referred to herein as processing bodies (P-bodies), which contain untranslated mRNAs and can serve as sites of mRNA degradation. Here we demonstrate that Argonaute proteins--the signature components of the RNA interference (RNAi) effector complex, RISC--localize to mammalian P-bodies. Moreover, reporter mRNAs that are targeted for translational repression by endogenous or exogenous miRNAs become concentrated in P-bodies in a miRNA-dependent manner. These results provide a link between miRNA function and mammalian P-bodies and suggest that translation repression by RISC delivers mRNAs to P-bodies, either as a cause or as a consequence of inhibiting protein synthesis.
MeSH term(s)	3' Untranslated Regions/genetics ; 3' Untranslated Regions/metabolism ; Argonaute Proteins ; Caenorhabditis elegans Proteins/genetics ; Cell Line ; Cell Line, Tumor ; Cytoplasmic Structures/metabolism ; Endoribonucleases/metabolism ; Eukaryotic Initiation Factor-2 ; Gene Expression Regulation ; HeLa Cells ; Humans ; Immunoprecipitation ; MicroRNAs/genetics ; MicroRNAs/metabolism ; Microscopy, Fluorescence ; Mutation/physiology ; Peptide Initiation Factors/genetics ; Peptide Initiation Factors/metabolism ; Protein Binding ; RNA Transport ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; RNA, Small Interfering/genetics ; RNA, Small Interfering/metabolism ; RNA-Induced Silencing Complex/metabolism ; Receptors, CXCR4/genetics ; Trans-Activators/metabolism ; Transfection
Chemical Substances	3' Untranslated Regions ; AGO2 protein, human ; Argonaute Proteins ; Caenorhabditis elegans Proteins ; Eukaryotic Initiation Factor-2 ; MicroRNAs ; Peptide Initiation Factors ; RNA, Messenger ; RNA, Small Interfering ; RNA-Induced Silencing Complex ; Receptors, CXCR4 ; Trans-Activators ; let-7 microRNA, C elegans ; Endoribonucleases (EC 3.1.-) ; DCP1A protein, human (EC 3.1.27.-) ; DCP2 protein, human (EC 3.1.27.-)
Language	English
Publishing date	2005-06-05
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	1474722-4
ISSN	1476-4679 ; 1465-7392
ISSN (online)	1476-4679
ISSN	1465-7392
DOI	10.1038/ncb1274
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Zs.A 5169: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article: Extrasynaptic Communication.

De-Miguel, Francisco F / Leon-Pinzon, Carolina / Torres-Platas, Susana G / Del-Pozo, Vanessa / Hernández-Mendoza, Guillermo A / Aguirre-Olivas, Dilia / Méndez, Bruno / Moore, Sharlen / Sánchez-Sugía, Celeste / García-Aguilera, Marco Antonio / Martínez-Valencia, Alejandro / Ramírez-Santiago, Guillermo / Rubí, J Miguel

Frontiers in molecular neuroscience

2021 Volume 14, Page(s) 638858

Abstract: Streams of action potentials or long depolarizations evoke a massive exocytosis of transmitters and peptides from the surface of dendrites, axons and cell bodies of different neuron types. Such mode of exocytosis is known as extrasynaptic for occurring ... ...

Abstract	Streams of action potentials or long depolarizations evoke a massive exocytosis of transmitters and peptides from the surface of dendrites, axons and cell bodies of different neuron types. Such mode of exocytosis is known as extrasynaptic for occurring without utilization of synaptic structures. Most transmitters and all peptides can be released extrasynaptically. Neurons may discharge their contents with relative independence from the axon, soma and dendrites. Extrasynaptic exocytosis takes fractions of a second in varicosities or minutes in the soma or dendrites, but its effects last from seconds to hours. Unlike synaptic exocytosis, which is well localized, extrasynaptic exocytosis is diffuse and affects neuronal circuits, glia and blood vessels. Molecules that are liberated may reach extrasynaptic receptors microns away. The coupling between excitation and exocytosis follows a multistep mechanism, different from that at synapses, but similar to that for the release of hormones. The steps from excitation to exocytosis have been studied step by step for the vital transmitter serotonin in leech Retzius neurons. The events leading to serotonin exocytosis occur similarly for the release of other transmitters and peptides in central and peripheral neurons. Extrasynaptic exocytosis occurs commonly onto glial cells, which react by releasing the same or other transmitters. In the last section, we discuss how illumination of the retina evokes extrasynaptic release of dopamine and ATP. Dopamine contributes to light-adaptation; ATP activates glia, which mediates an increase in blood flow and oxygenation. A proper understanding of the workings of the nervous system requires the understanding of extrasynaptic communication.
Language	English
Publishing date	2021-04-30
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2452967-9
ISSN	1662-5099
ISSN	1662-5099
DOI	10.3389/fnmol.2021.638858
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Article ; Online: Underlying and proximate drivers of biodiversity changes in Mesoamerican biosphere reserves.

Auliz-Ortiz, Daniel Martín / Benítez-Malvido, Julieta / Arroyo-Rodríguez, Víctor / Dirzo, Rodolfo / Pérez-Farrera, Miguel Ángel / Luna-Reyes, Roberto / Mendoza, Eduardo / Álvarez-Añorve, Mariana Yólotl / Álvarez-Sánchez, Javier / Arias-Ataide, Dulce María / Ávila-Cabadilla, Luis Daniel / Botello, Francisco / Braasch, Marco / Casas, Alejandro / Campos-Villanueva, Delfino Álvaro / Cedeño-Vázquez, José Rogelio / Chávez-Tovar, José Cuauhtémoc / Coates, Rosamond / Dechnik-Vázquez, Yanus /

Del Coro Arizmendi, María / Dias, Pedro Américo / Dorado, Oscar / Enríquez, Paula / Escalona-Segura, Griselda / Farías-González, Verónica / Favila, Mario E / García, Andrés / García-Morales, Leccinum Jesús / Gavito-Pérez, Fernando / Gómez-Domínguez, Héctor / González-García, Fernando / González-Zamora, Arturo / Cuevas-Guzmán, Ramón / Haro-Belchez, Enrique / Hernández-Huerta, Arturo Heriberto / Hernández-Ordoñez, Omar / Horváth, Anna / Ibarra-Manríquez, Guillermo / Lavín-Murcio, Pablo Antonio / Lira-Saade, Rafael / López-Díaz, Karime / MacSwiney G, M Cristina / Mandujano, Salvador / Martínez-Camilo, Rubén / Martínez-Ávalos, José Guadalupe / Martínez-Meléndez, Nayely / Monroy-Ojeda, Alan / Mora, Francisco / Mora-Olivo, Arturo / Muench, Carlos / Peña-Mondragón, Juan L / Percino-Daniel, Ruth / Ramírez-Marcial, Neptalí / Reyna-Hurtado, Rafael / Rodríguez-Ruíz, Erick Rubén / Sánchez-Cordero, Víctor / Suazo-Ortuño, Ireri / Terán-Juárez, Sergio Alejandro / Valdivieso-Pérez, Ingrid Abril / Valencia, Vivian / Valenzuela-Galván, David / Vargas-Contreras, Jorge Albino / Vázquez-Pérez, José Raúl / Vega-Rivera, Jorge Humberto / Venegas-Barrera, Crystian Sadiel / Martínez-Ramos, Miguel

Proceedings of the National Academy of Sciences of the United States of America

2024 Volume 121, Issue 6, Page(s) e2305944121

Abstract: Protected areas are of paramount relevance to conserving wildlife and ecosystem contributions to people. Yet, their conservation success is increasingly threatened by human activities including habitat loss, climate change, pollution, and species ... ...

Abstract	Protected areas are of paramount relevance to conserving wildlife and ecosystem contributions to people. Yet, their conservation success is increasingly threatened by human activities including habitat loss, climate change, pollution, and species overexploitation. Thus, understanding the underlying and proximate drivers of anthropogenic threats is urgently needed to improve protected areas' effectiveness, especially in the biodiversity-rich tropics. We addressed this issue by analyzing expert-provided data on long-term biodiversity change (last three decades) over 14 biosphere reserves from the Mesoamerican Biodiversity Hotspot. Using multivariate analyses and structural equation modeling, we tested the influence of major socioeconomic drivers (demographic, economic, and political factors), spatial indicators of human activities (agriculture expansion and road extension), and forest landscape modifications (forest loss and isolation) as drivers of biodiversity change. We uncovered a significant proliferation of disturbance-tolerant guilds and the loss or decline of disturbance-sensitive guilds within reserves causing a "winner and loser" species replacement over time. Guild change was directly related to forest spatial changes promoted by the expansion of agriculture and roads within reserves. High human population density and low nonfarming occupation were identified as the main underlying drivers of biodiversity change. Our findings suggest that to mitigate anthropogenic threats to biodiversity within biosphere reserves, fostering human population well-being via sustainable, nonfarming livelihood opportunities around reserves is imperative.
MeSH term(s)	Humans ; Animals ; Ecosystem ; Biodiversity ; Agriculture ; Animals, Wild ; Climate Change
Language	English
Publishing date	2024-01-22
Publishing country	United States
Document type	Journal Article
ZDB-ID	209104-5
ISSN	1091-6490 ; 0027-8424
ISSN (online)	1091-6490
ISSN	0027-8424
DOI	10.1073/pnas.2305944121
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Zs.A 1148: Show issues

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Article ; Online: Is Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature.

Vásquez-Echeverri, Estefanía / Yamazaki-Nakashimada, Marco Antonio / Venegas Montoya, Edna / Scheffler Mendoza, Selma Cecilia / Castano-Jaramillo, Lina Maria / Medina-Torres, Edgar Alejandro / González-Serrano, Maria Edith / Espinosa-Navarro, Melissa / Bustamante Ogando, Juan Carlos / González-Villarreal, María Guadalupe / Ortega Cisneros, Margarita / Valencia Mayoral, Pedro Francisco / Consuelo Sanchez, Alejandra / Varela-Fascinetto, Gustavo / Ramírez-Uribe, Rosa María Nideshda / Salazar Gálvez, Yuridia / Bonifaz Alonzo, Laura Cecilia / Fuentes-Pananá, Ezequiel Moisés / Gómez Hernández, Noemí /

Rojas Maruri, César Mauricio / Casanova, Jean-Laurent / Espinosa-Padilla, Sara Elva / Staines Boone, Aidé Tamara / López-Velázquez, Gabriel / Boisson, Bertrand / Lugo Reyes, Saul Oswaldo

The journal of allergy and clinical immunology. In practice

2023 Volume 11, Issue 4, Page(s) 1261–1280.e8

Abstract: Background: Hereditary actin-related protein 2/3 complex subunit 1B deficiency is characterized clinically by ear, skin, and lung infections, bleeding, eczema, food allergy, asthma, skin vasculitis, colitis, arthritis, short stature, and lymphadenopathy. ...

Abstract	Background: Hereditary actin-related protein 2/3 complex subunit 1B deficiency is characterized clinically by ear, skin, and lung infections, bleeding, eczema, food allergy, asthma, skin vasculitis, colitis, arthritis, short stature, and lymphadenopathy. Objective: We aimed to describe the clinical, laboratory, and genetic features of six patients from four Mexican families. Methods: We performed exome sequencing in patients of four families with suspected actinopathy, collected their data from medical records, and reviewed the literature for reports of other patients with actin-related protein 2/3 complex subunit 1B deficiency. Results: Six patients from four families were included. All had recurrent infections, mainly bacterial pneumonia, and cellulitis. A total of 67% had eczema whereas 50% had food allergies, failure to thrive, hepatomegaly, and bleeding. Eosinophilia was found in all; 84% had thrombocytopenia, 67% had abnormal-size platelets and anemia. Serum levels of IgG, IgA, and IgE were highly increased in most; IgM was normal or low. T cells were decreased in 67% of patients, whereas B and NK cells were increased in half of patients. Two of the four probands had compound heterozygous variants. One patient was successfully transplanted. We identified 28 other patients whose most prevalent features were eczema, recurrent infections, failure to thrive, bleeding, diarrhea, allergies, vasculitis, eosinophilia, platelet abnormalities, high IgE/IgA, low T cells, and high B cells. Conclusion: Actin-related protein 2/3 complex subunit 1B deficiency has a variable and heterogeneous clinical spectrum, expanded by these cases to include keloid scars and Epstein-Barr virus chronic hepatitis. A novel deletion in exon 8 was shared by three unrelated families and might be the result of a founder effect.
MeSH term(s)	Humans ; Actin-Related Protein 2 ; Actins ; Eczema ; Eosinophilia ; Epstein-Barr Virus Infections ; Failure to Thrive ; Herpesvirus 4, Human ; Immunoglobulin A ; Immunoglobulin E ; Reinfection ; Vasculitis ; Actin-Related Protein 3/metabolism
Chemical Substances	Actin-Related Protein 2 ; Actins ; Immunoglobulin A ; Immunoglobulin E (37341-29-0) ; Actin-Related Protein 3
Language	English
Publishing date	2023-01-25
Publishing country	United States
Document type	Review ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2843237-X
ISSN	2213-2201 ; 2213-2198
ISSN (online)	2213-2201
ISSN	2213-2198
DOI	10.1016/j.jaip.2022.12.045
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Zs.A 7086: Show issues

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Article ; Online: Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease.

Blancas-Galicia, Lizbeth / Santos-Chávez, Eros / Deswarte, Caroline / Mignac, Quentin / Medina-Vera, Isabel / León-Lara, Ximena / Roynard, Manon / Scheffler-Mendoza, Selma C / Rioja-Valencia, Ricardo / Alvirde-Ayala, Alexandra / Lugo Reyes, Saul O / Staines-Boone, Tamara / García-Campos, Jorge / Saucedo-Ramírez, Omar J / Del-Río Navarro, Blanca E / Zamora-Chávez, Antonio / López-Larios, Arturo / García-Pavón-Osorio, Susana / Melgoza-Arcos, Eugenia /

Canseco-Raymundo, María R / Mogica-Martínez, Dolores / Venancio-Hernández, Marco / Pacheco-Rosas, Daniel / Pedraza-Sánchez, Sigifredo / Guevara-Cruz, Martha / Saracho-Weber, Federico / Gámez-González, Berenise / Wakida-Kuzunoki, Guillermo / Morán-Mendoza, Ana R / Macías-Robles, Ana P / Ramírez-Rivera, Roselia / Vargas-Camaño, Eugenia / Zarate-Hernández, Carmen / Gómez-Tello, Héctor / Ramírez-Sánchez, Emmanuel / Ruíz-Hernández, Fredy / Ramos-López, Domingo / Acuña-Martínez, Héctor / García-Cruz, María L / Román-Jiménez, María G / González-Villarreal, Marina G / Álvarez-Cardona, Aristóteles / Llamas-Guillén, Beatriz A / Cuellar-Rodríguez, Jennifer / Olaya-Vargas, Alberto / Ramírez-Uribe, Nideshda / Boisson-Dupuis, Stéphanie / Casanova, Jean-Laurent / Espinosa-Rosales, Francisco J / Serafín-López, Jeanet / Yamazaki-Nakashimada, Marco / Espinosa-Padilla, Sara / Bustamante, Jacinta

Journal of clinical immunology

2020 Volume 40, Issue 3, Page(s) 475–493

Abstract: Purpose: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by an inability of phagocytes to produce reactive oxygen species, impairing their killing of various bacteria and fungi. We summarize here the 93 cases of CGD ... ...

Abstract	Purpose: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by an inability of phagocytes to produce reactive oxygen species, impairing their killing of various bacteria and fungi. We summarize here the 93 cases of CGD diagnosed in Mexico from 2011 to 2019. Methods: Thirteen Mexican hospitals participated in this study. We describe the genetic, immunological, and clinical features of the 93 CGD patients from 78 unrelated kindreds. Results: Eighty-two of the patients (88%) were male. All patients developed bacterial infections and 30% suffered from some kind of fungal infection. Fifty-four BCG-vaccinated patients (58%) presented infectious complications of BCG vaccine. Tuberculosis occurred in 29%. Granulomas were found in 56% of the patients. Autoimmune and inflammatory diseases were present in 15% of patients. A biological diagnosis of CGD was made in 89/93 patients, on the basis of NBT assay (n = 6), DHR (n = 27), and NBT plus DHR (n = 56). The deficiency was complete in all patients. The median age of biological diagnosis was 17 months (range, 0-186 months). A genetic diagnosis was made in 83/93 patients (when material was available), corresponding to CYBB (n = 64), NCF1 (n = 7), NCF2 (n = 7), and CYBA (n = 5) mutations. Conclusions: The clinical manifestations in these Mexican CGD patients were similar to those in patients elsewhere. This cohort is the largest in Latin America. Mycobacterial infections are an important cause of morbidity in Mexico, as in other countries in which tuberculosis is endemic and infants are vaccinated with BCG. X-linked CGD accounted for most of the cases in Mexico, as in other Latin American countries. However, a significant number of CYBA and NCF2 mutations were identified, expanding the spectrum of known causal mutations.
MeSH term(s)	Adolescent ; Autoimmunity ; Child ; Child, Preschool ; Cohort Studies ; Female ; Genes, X-Linked ; Granulomatous Disease, Chronic/epidemiology ; Granulomatous Disease, Chronic/genetics ; Granulomatous Disease, Chronic/immunology ; Humans ; Infant ; Infant, Newborn ; Inflammation ; Male ; Mexico/epidemiology ; Mutation/genetics ; Mycobacterium/physiology ; Mycobacterium Infections/epidemiology ; NADPH Oxidase 2/genetics ; NADPH Oxidases/genetics
Chemical Substances	CYBB protein, human (EC 1.6.3.-) ; NADPH Oxidase 2 (EC 1.6.3.-) ; NADPH Oxidases (EC 1.6.3.-) ; NCF2 protein, human (EC 1.6.3.1) ; neutrophil cytosolic factor 1 (EC 1.6.3.1)
Language	English
Publishing date	2020-02-10
Publishing country	Netherlands
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	779361-3
ISSN	1573-2592 ; 0271-9142
ISSN (online)	1573-2592
ISSN	0271-9142
DOI	10.1007/s10875-020-00750-5
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Article: Polymorphism analysis and new JAG1 gene mutations of Alagille syndrome in Mexican population.

Vázquez-Martínez, Edgar Ricardo / Varela-Fascinetto, Gustavo / García-Delgado, Constanza / Rodríguez-Espino, Benjamín Antonio / Sánchez-Boiso, Adriana / Valencia-Mayoral, Pedro / Heller-Rosseau, Solange / Pelcastre-Luna, Erika Lisselly / Zenteno, Juan C / Cerbón, Marco / Morán-Barroso, Verónica Fabiola

Meta gene

2013 Volume 2, Page(s) 32–40

Abstract: Alagille syndrome is a multisystem disorder with an autosomic dominant pattern of inheritance that affects the liver, heart, eyes, kidneys, skeletal system and presents characteristic facial features. Mutations of the JAG1 gene have been identified in 20- ...

Abstract	Alagille syndrome is a multisystem disorder with an autosomic dominant pattern of inheritance that affects the liver, heart, eyes, kidneys, skeletal system and presents characteristic facial features. Mutations of the JAG1 gene have been identified in 20-89% of the patients with Alagille syndrome, this gene encodes for a ligand that activates the Notch signaling pathway. In the present study we analyzed 9 Mexican patients with Alagille syndrome who presented the clinical criteria for the classical presentation of the disease. By using the denaturing high performance liquid chromatography mutation analysis we were able to identify different mutations in 7 of the patients (77.77%), importantly, we found 5 novel mutations in JAG1 gene. The allelic frequency distribution of 13 polymorphisms in Mexican population is also reported. The overall results demonstrated an expanding mutational spectrum of JAG1 gene in the Mexican population.
Language	English
Publishing date	2013-12-08
Publishing country	Netherlands
Document type	Journal Article
ISSN	2214-5400
ISSN	2214-5400
DOI	10.1016/j.mgene.2013.10.002
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