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  1. AU="Gabriel A. Martos-Moreno"
  2. AU="Warburton, W K"
  3. AU="Abbaspour, Faeze"
  4. AU="González-Montalvo, Juan Ignacio"
  5. AU="Emery H Bresnick"
  6. AU="McManus, R J"
  7. AU="Mahmoudi, Hamid Reza"
  8. AU="Lee, Dongil"
  9. AU="T Oni"
  10. AU="Diego R. Pérez-Salicrup"
  11. AU="Verhaaren, Benjamin F J"
  12. AU="Gamoudi, Gamoudi Amor"
  13. AU="Fonseca, Barbara F."
  14. AU="Rubio García, Rafael"
  15. AU="Jiménez-Solano, A"
  16. AU=Mai Huynh Kim
  17. AU=Ellis R J
  18. AU="Carvalho, Aline Carla Araújo"
  19. AU=Gleeson Sarah
  20. AU="Lozier, Alan P."
  21. AU="Perrin, Elodie"
  22. AU="Chung, Haniee"
  23. AU="Jendernalik, Kamila"
  24. AU="Naveira, Horacio F"
  25. AU="Heyliger, Jamie"
  26. AU="García-Fernández, Ciara"
  27. AU="Lee, Mi-Ock"
  28. AU="Pouraliakbar, Hamidreza"
  29. AU="Raina, Hema"
  30. AU="Rosenbaum, David P"
  31. AU="Paulus, Markus"
  32. AU="Nguyen, David Truong"
  33. AU="Khazanchi, Rakesh Kumar"
  34. AU="Agrò, Felice E"
  35. AU="Bücker, Bettina"
  36. AU="Steussy, Bryan W"

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  1. Artikel ; Online: Identifying subgroups of childhood obesity by using multiplatform metabotyping

    David Chamoso-Sanchez / Francisco Rabadán Pérez / Jesús Argente / Coral Barbas / Gabriel A. Martos-Moreno / Francisco J. Rupérez

    Frontiers in Molecular Biosciences, Vol

    2023  Band 10

    Abstract: Introduction: Obesity results from an interplay between genetic predisposition and environmental factors such as diet, physical activity, culture, and socioeconomic status. Personalized treatments for obesity would be optimal, thus necessitating the ... ...

    Abstract Introduction: Obesity results from an interplay between genetic predisposition and environmental factors such as diet, physical activity, culture, and socioeconomic status. Personalized treatments for obesity would be optimal, thus necessitating the identification of individual characteristics to improve the effectiveness of therapies. For example, genetic impairment of the leptin-melanocortin pathway can result in rare cases of severe early-onset obesity. Metabolomics has the potential to distinguish between a healthy and obese status; however, differentiating subsets of individuals within the obesity spectrum remains challenging. Factor analysis can integrate patient features from diverse sources, allowing an accurate subclassification of individuals.Methods: This study presents a workflow to identify metabotypes, particularly when routine clinical studies fail in patient categorization. 110 children with obesity (BMI > +2 SDS) genotyped for nine genes involved in the leptin-melanocortin pathway (CPE, MC3R, MC4R, MRAP2, NCOA1, PCSK1, POMC, SH2B1, and SIM1) and two glutamate receptor genes (GRM7 and GRIK1) were studied; 55 harboring heterozygous rare sequence variants and 55 with no variants. Anthropometric and routine clinical laboratory data were collected, and serum samples processed for untargeted metabolomic analysis using GC-q-MS and CE-TOF-MS and reversed-phase U(H)PLC-QTOF-MS/MS in positive and negative ionization modes. Following signal processing and multialignment, multivariate and univariate statistical analyses were applied to evaluate the genetic trait association with metabolomics data and clinical and routine laboratory features.Results and Discussion: Neither the presence of a heterozygous rare sequence variant nor clinical/routine laboratory features determined subgroups in the metabolomics data. To identify metabolomic subtypes, we applied Factor Analysis, by constructing a composite matrix from the five analytical platforms. Six factors were discovered and three different metabotypes. ...
    Schlagwörter multiplatform metabolomics ; factor analysis ; data integration ; obesity ; childhood ; leptin-melanocortin pathway ; Biology (General) ; QH301-705.5
    Thema/Rubrik (Code) 616
    Sprache Englisch
    Erscheinungsdatum 2023-12-01T00:00:00Z
    Verlag Frontiers Media S.A.
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  2. Artikel ; Online: Response to growth hormone in patients with RNPC3 mutations

    Gabriel Á Martos‐Moreno / Lourdes Travieso‐Suárez / Jesús Pozo‐Román / María T Muñoz‐Calvo / Julie A Chowen / Mikko J Frilander / Luis A Pérez‐Jurado / Federico G Hawkins / Jesús Argente

    EMBO Molecular Medicine, Vol 12, Iss 9, Pp n/a-n/a (2020)

    2020  

    Schlagwörter Medicine (General) ; R5-920 ; Genetics ; QH426-470
    Sprache Englisch
    Erscheinungsdatum 2020-09-01T00:00:00Z
    Verlag Wiley
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  3. Artikel ; Online: Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency

    Jesús Argente / Raquel Flores / Armand Gutiérrez‐Arumí / Bhupendra Verma / Gabriel Á Martos‐Moreno / Ivon Cuscó / Ali Oghabian / Julie A Chowen / Mikko J Frilander / Luis A Pérez‐Jurado

    EMBO Molecular Medicine, Vol 12, Iss 9, Pp n/a-n/a (2020)

    2020  

    Schlagwörter Medicine (General) ; R5-920 ; Genetics ; QH426-470
    Sprache Englisch
    Erscheinungsdatum 2020-09-01T00:00:00Z
    Verlag Wiley
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  4. Artikel ; Online: Response to growth hormone in patients with RNPC3 mutations

    Gabriel Á Martos‐Moreno / Lourdes Travieso‐Suárez / Jesús Pozo‐Román / María T Muñoz‐Calvo / Julie A Chowen / Mikko J Frilander / Luis A Pérez‐Jurado / Federico G Hawkins / Jesús Argente

    EMBO Molecular Medicine, Vol 10, Iss 7, Pp n/a-n/a (2018)

    2018  

    Schlagwörter Medicine (General) ; R5-920 ; Genetics ; QH426-470
    Sprache Englisch
    Erscheinungsdatum 2018-07-01T00:00:00Z
    Verlag Wiley
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  5. Artikel ; Online: A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding.

    Susana Granell / Clara Serra-Juhé / Gabriel Á Martos-Moreno / Francisca Díaz / Luis A Pérez-Jurado / Giulia Baldini / Jesús Argente

    PLoS ONE, Vol 7, Iss 12, p e

    2012  Band 50894

    Abstract: Heterozygous mutations in the melanocortin-4 receptor (MC4R) gene represent the most frequent cause of monogenic obesity in humans. MC4R mutation analysis in a cohort of 77 children with morbid obesity identified previously unreported heterozygous ... ...

    Abstract Heterozygous mutations in the melanocortin-4 receptor (MC4R) gene represent the most frequent cause of monogenic obesity in humans. MC4R mutation analysis in a cohort of 77 children with morbid obesity identified previously unreported heterozygous mutations (P272L, N74I) in two patients inherited from their obese mothers. A rare polymorphism (I251L, allelic frequency: 1/100) reported to protect against obesity was found in another obese patient. When expressed in neuronal cells, the cell surface abundance of wild-type MC4R and of the N74I and I251L variants and the cAMP generated by these receptors in response to exposure to the agonist, α-MSH, were not different. Conversely, MC4R P272L was retained in the endoplasmic reticulum and had reduced cell surface expression and signaling (by ≈ 3-fold). The chemical chaperone PBA, which promotes protein folding of wild-type MC4R, had minimal effects on the distribution and signaling of the P272L variant. In contrast, incubation with UBE-41, a specific inhibitor of ubiquitin activating enzyme E1, inhibited ubiquitination of MC4R P272L and increased its cell surface expression and signaling to similar levels as wild-type MC4R. UBE41 had much less profound effects on MC4R I316S, another obesity-linked MC4R variant trapped in the ER. These data suggest that P272L is retained in the ER by a propensity to be ubiquitinated in the face of correct folding, which is only minimally shared by MC4R I316S. Thus, studies that combine clinical screening of obese patients and investigation of the functional defects of the obesity-linked MC4R variants can identify specific ways to correct these defects and are the first steps towards personalized medicine.
    Schlagwörter Medicine ; R ; Science ; Q
    Thema/Rubrik (Code) 616
    Sprache Englisch
    Erscheinungsdatum 2012-01-01T00:00:00Z
    Verlag Public Library of Science (PLoS)
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  6. Artikel ; Online: Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

    Laura J. Grange / John J. Reynolds / Farid Ullah / Bertrand Isidor / Robert F. Shearer / Xenia Latypova / Ryan M. Baxley / Antony W. Oliver / Anil Ganesh / Sophie L. Cooke / Satpal S. Jhujh / Gavin S. McNee / Robert Hollingworth / Martin R. Higgs / Toyoaki Natsume / Tahir Khan / Gabriel Á. Martos-Moreno / Sharon Chupp / Christopher G. Mathew /
    David Parry / Michael A. Simpson / Nahid Nahavandi / Zafer Yüksel / Mojgan Drasdo / Anja Kron / Petra Vogt / Annemarie Jonasson / Saad Ahmed Seth / Claudia Gonzaga-Jauregui / Karlla W. Brigatti / Alexander P. A. Stegmann / Masato Kanemaki / Dragana Josifova / Yuri Uchiyama / Yukiko Oh / Akira Morimoto / Hitoshi Osaka / Zineb Ammous / Jesús Argente / Naomichi Matsumoto / Constance T.R.M. Stumpel / Alexander M. R. Taylor / Andrew P. Jackson / Anja-Katrin Bielinsky / Niels Mailand / Cedric Le Caignec / Erica E. Davis / Grant S. Stewart

    Nature Communications, Vol 13, Iss 1, Pp 1-

    2022  Band 22

    Abstract: The SMC5/6 complex is critical for genome stability. Here, the authors identify mutations in SLF2 and SMC5 as cause of Atelís Syndrome characterized by microcephaly, short stature, anemia, segmented chromosomes and mosaic variegated hyperploidy. ...

    Abstract The SMC5/6 complex is critical for genome stability. Here, the authors identify mutations in SLF2 and SMC5 as cause of Atelís Syndrome characterized by microcephaly, short stature, anemia, segmented chromosomes and mosaic variegated hyperploidy.
    Schlagwörter Science ; Q
    Sprache Englisch
    Erscheinungsdatum 2022-11-01T00:00:00Z
    Verlag Nature Portfolio
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  7. Artikel ; Online: Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency

    Jesús Argente / Raquel Flores / Armand Gutiérrez‐Arumí / Bhupendra Verma / Gabriel Á Martos‐Moreno / Ivon Cuscó / Ali Oghabian / Julie A Chowen / Mikko J Frilander / Luis A Pérez‐Jurado

    EMBO Molecular Medicine, Vol 6, Iss 3, Pp 299-

    2014  Band 306

    Abstract: Abstract The molecular basis of a significant number of cases of isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe isolated growth hormone deficiency and pituitary hypoplasia caused by biallelic mutations ... ...

    Abstract Abstract The molecular basis of a significant number of cases of isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe isolated growth hormone deficiency and pituitary hypoplasia caused by biallelic mutations in the RNPC3 gene, which codes for a minor spliceosome protein required for U11/U12 small nuclear ribonucleoprotein (snRNP) formation and splicing of U12‐type introns. We found anomalies in U11/U12 di‐snRNP formation and in splicing of multiple U12‐type introns in patient cells. Defective transcripts include preprohormone convertases SPCS2 and SPCS3 and actin‐related ARPC5L genes, which are candidates for the somatotroph‐restricted dysfunction. The reported novel mechanism for familial growth hormone deficiency demonstrates that general mRNA processing defects of the minor spliceosome can lead to very narrow tissue‐specific consequences.
    Schlagwörter mRNA splicing ; pituitary hypoplasia ; U12‐type introns ; Medicine (General) ; R5-920 ; Genetics ; QH426-470
    Sprache Englisch
    Erscheinungsdatum 2014-03-01T00:00:00Z
    Verlag Wiley
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  8. Artikel ; Online: Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability

    Andrew Dauber / María T Muñoz‐Calvo / Vicente Barrios / Horacio M Domené / Soren Kloverpris / Clara Serra‐Juhé / Vardhini Desikan / Jesús Pozo / Radhika Muzumdar / Gabriel Á Martos‐Moreno / Federico Hawkins / Héctor G Jasper / Cheryl A Conover / Jan Frystyk / Shoshana Yakar / Vivian Hwa / Julie A Chowen / Claus Oxvig / Ron G Rosenfeld /
    Luis A Pérez‐Jurado / Jesús Argente

    EMBO Molecular Medicine, Vol 8, Iss 4, Pp 363-

    2016  Band 374

    Abstract: Abstract Mutations in multiple genes of the growth hormone/IGF‐I axis have been identified in syndromes marked by growth failure. However, no pathogenic human mutations have been reported in the six high‐affinity IGF‐binding proteins (IGFBPs) or their ... ...

    Abstract Abstract Mutations in multiple genes of the growth hormone/IGF‐I axis have been identified in syndromes marked by growth failure. However, no pathogenic human mutations have been reported in the six high‐affinity IGF‐binding proteins (IGFBPs) or their regulators, such as the metalloproteinase pregnancy‐associated plasma protein A2 (PAPP‐A2) that is hypothesized to increase IGF‐I bioactivity by specific proteolytic cleavage of IGFBP‐3 and ‐5. Multiple members of two unrelated families presented with progressive growth failure, moderate microcephaly, thin long bones, mildly decreased bone density and elevated circulating total IGF‐I, IGFBP‐3, and ‐5, acid labile subunit, and IGF‐II concentrations. Two different homozygous mutations in PAPPA2, p.D643fs25* and p.Ala1033Val, were associated with this novel syndrome of growth failure. In vitro analysis of IGFBP cleavage demonstrated that both mutations cause a complete absence of PAPP‐A2 proteolytic activity. Size‐exclusion chromatography showed a significant increase in IGF‐I bound in its ternary complex. Free IGF‐I concentrations were decreased. These patients provide important insights into the regulation of longitudinal growth in humans, documenting the critical role of PAPP‐A2 in releasing IGF‐I from its BPs.
    Schlagwörter bone ; delayed growth ; growth hormone ; IGF‐binding proteins ; IGF bioavailability ; Medicine (General) ; R5-920 ; Genetics ; QH426-470
    Thema/Rubrik (Code) 616
    Sprache Englisch
    Erscheinungsdatum 2016-04-01T00:00:00Z
    Verlag Wiley
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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  9. Artikel ; Online: Las alteraciones metabólicas asociadas a la obesidad están ya presentes en los primeros años de vida

    Gabriel Á. Martos-Moreno / Mercedes Gil-Campos / Gloria Bueno / Pilar Bahillo / Susana Bernal / Albert Feliu / Alfonso M. Lechuga-Sancho / Enrique Palomo / Rafael Ruiz / Amaia Vela

    Nutrición Hospitalaria, Vol 30, Iss 4, Pp 787-793

    estudio colaborativo español

    Abstract: Los objetivos de este estudio son, realizar una descripción de las características demográficas, antropométricas y de las alteraciones metabólicas de niños atendidos por obesidad resaltando las características aquellos casos de obesidad de inicio ... ...

    Abstract Los objetivos de este estudio son, realizar una descripción de las características demográficas, antropométricas y de las alteraciones metabólicas de niños atendidos por obesidad resaltando las características aquellos casos de obesidad de inicio temprano (< 10 años) y los de inicio precoz (< 5 años), y evaluar la capacidad diagnóstica de la definición de síndrome metabólico (SM) según diferentes criterios. Métodos: Es un estudio retrospectivo, caso-control, transversal, multicéntrico. Han participado un total de 10 Unidades de Endocrinología Pediátrica de diferentes hospitales españoles con un grupo de 469 niños con obesidad de inicio temprano y otro grupo de 30 niños con obesidad de inicio precoz. El grupo control estuvo constituido por 224 niños sanos menores de 10 años. Se realizó una valoración antropométrica y determinación analítica de parámetros del metabolismo de los hidratos de carbono y lipidograma. Resultados: La presencia de alteraciones metabólicas asociadas a la obesidad en la etapa infanto-juvenil en España es notable, de forma aislada, o englobada bajo la definición de SM. La prevalencia de éste aumenta sustancialmente cuando se considera la resistencia periférica a la acción de la insulina como criterio diagnóstico. Se demuestra cómo en niños menores de 10 años, dichas alteraciones están presentes en un porcentaje reseñable, y se encuentran las primeras alteraciones metabólicas ya en niños obesos < 5 años. Conclusión: En los niños españoles existen alteraciones metabólicas asociadas a la obesidad en la etapa infanto-juvenil de forma aislada o englobada bajo la definición de SM, y ya están presentes a edades precoces.
    Schlagwörter Childhood obesity ; metabolic syndrome ; insulin resistance ; dyslipidemia ; metabolic comorbidities ; Medicine ; R ; Medicine (General) ; R5-920
    Verlag Sociedad Española de Nutrición Parenteral y Enteral
    Dokumenttyp Artikel ; Online
    Datenquelle BASE - Bielefeld Academic Search Engine (Lebenswissenschaftliche Auswahl)

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