Browsing by Author "Argente, Jesús"

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  • Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency
    Argente, Jesús; Flores, Raquel; Gutiérrez Arumi, Armand, 1980-; Verma, Bhupendra; Martos Moreno, Gabriel A.; Cuscó Martí, Ivon, 1973-; Oghabian, Ali; Chowen, Julie A.; Frilander, Mikko J.; Pérez Jurado, Luis Alberto (Wiley-VCH Verlag, 2014)
    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 ...
  • Evaluation of plasma cytokines in patients with cocaine use disorders in abstinence identifies transforming growth factor alpha (TGFα) as a potential biomarker of consumption and dual diagnosis
    Maza-Quiroga, Rosa; García-Marchena, Nuria; Romero-Sanchiz, Pablo; Barrios, Vicente; Pedraz, María; Serrano, Antonia; Nogueira-Arjona, Raquel; Ruiz, Juan Jesús; Soria, Maribel; Campos Cloute, Rafael; Chowen, Julie A.; Argente, Jesús; Torrens, Marta; López-Gallardo, Meritxell; Marco, Eva María; Rodríguez de Fonseca, Fernando; Pavón, Francisco Javier; Araos, Pedro (PeerJ open, 2017)
    BACKGROUND: Cocaine use disorder (CUD) is a complex health condition, especially when it is accompanied by comorbid psychiatric disorders (dual diagnosis). Dual diagnosis is associated with difficulties in the stratification ...
  • Heterozygous rare genetic variants in non-syndromic early-onset obesity
    Serra Juhé, Clara, 1984-; Martos Moreno, Gabriel A.; Bou de Pieri, Francesc, 1992-; Flores, Raquel; Chowen, Julie A.; Pérez Jurado, Luis Alberto; Argente, Jesús (Nature Research, 2020)
    BACKGROUND: Obesity is a very heterogeneous disorder at both the clinical and molecular levels and with high heritability. Several monogenic forms and genes with strong effects have been identified for non-syndromic severe ...
  • Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants
    Serra Juhé, Clara, 1984-; Martos Moreno, Gabriel A.; Bou de Pieri, Francesc, 1992-; Flores Peirats, Raquel; González Ruiz, Juan Ramón; Rodríguez Santiago, Benjamín; Argente, Jesús; Pérez Jurado, Luis Alberto (Public Library of Science (PLoS), 2017)
    Obesity is a multifactorial disorder with high heritability (50–75%), which is probably higher in early-onset and severe cases. Although rare monogenic forms and several genes and regions of susceptibility, including copy ...
  • 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
    Pérez Jurado, Luis Alberto; Granell, Susana; Serra Juhé, Clara, 1984-; Martos Moreno, Gabriel A.; Díaz, Francisca; Baldini, Giulia; Argente, Jesús (Public Library of Science (PLoS), 2012)
    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 ...
  • One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology
    Argente, Jesús; Chowen, Julie A.; Pérez Jurado, Luis Alberto; Frystyk, Jan; Oxvig, Claus (Wiley-Blackwell, 2017)
    The discovery of a mutation in a specific gene can be very important for determining the pathophysiology underlying the disease of a patient and may also help to decide the best treatment protocol on an individual basis. ...
  • Plasma Chemokines in Patients with Alcohol Use Disorders: Association of CCL11 (Eotaxin-1) with Psychiatric Comorbidity
    García-Marchena, Nuria; Araos, Pedro; Barrios, Vicente; Sánchez-Marín, Laura; Chowen, Julie A.; Pedraz, María; Castilla Ortega, Estela; Romero-Sanchiz, Pablo; Ponce, Guillermo; Gavito, Ana L.; Decara, Juan M.; Silva Peña, Daniel; Torrens, Marta; Argente, Jesús; Rubio, Gabriel; Serrano, Antonia; Rodríguez de Fonseca, Fernando; Pavón, Francisco Javier (Frontiers, 2017)
    Recent studies have linked changes in peripheral chemokine concentrations to the presence of both addictive behaviors and psychiatric disorders. The present study further explore this link by analyzing the potential ...
  • Plasma Concentrations of BDNF and IGF-1 in Abstinent Cocaine Users with High Prevalence of Substance Use Disorders: Relationship to Psychiatric Comorbidity
    Pedraz, María; Martín Velasco, Ana Isabel; García Marchena, Nuria; Araos, Pedro; Serrano, Antonia; Romero Sanchiz, Pablo; Suárez, Juan; Castilla Ortega, Estela; Barrios, Vicente; Campos Cloute, Rafael; Ruiz, Juan Jesús; Torrens, Marta; Chowen, Julie A.; Argente, Jesús; Torre Fornell, Rafael de la; Santín, Luis Javier; Villanúa, María Ángeles; Rodríguez de Fonseca, Fernando; Pavón, Francisco Javier (Public Library of Science, 2015)
    Recent studies have identified biomarkers related to the severity and pathogenesis of cocaine addiction and common comorbid psychiatric disorders. Monitoring these plasma mediators may improve the stratification of cocaine ...
  • Pregnancy-associated plasma protein (PAPP)-A2 in physiology and disease
    Barrios, Vicente; Chowen, Julie A.; Martín Rivada, Álvaro; Guerra-Cantera, Santiago; Pozo-Román, Jesús; Yakar, Shoshana; Rosenfeld, Ron G.; Pérez Jurado, Luis Alberto; Suárez, Juan; Argente, Jesús (MDPI, 2021)
    The growth hormone (GH)/insulin-like growth factor (IGF) axis plays fundamental roles during development, maturation, and aging. Members of this axis, composed of various ligands, receptors, and binding proteins, are ...
  • Response to growth hormone in patients with RNPC3 mutations
    Martos Moreno, Gabriel A.; Travieso-Suárez, Lourdes; Pozo-Román, Jesús; Muñoz-Calvo, María T.; Chowen, Julie A.; Frilander, Mikko J.; Pérez Jurado, Luis Alberto; Hawkins, Federico G.; Argente, Jesús (Wiley-Blackwell, 2018)
  • Sex differences in psychiatric comorbidity and plasma biomarkers for cocaine addiction in abstinent cocaine-addicted subjects in outpatient settings
    Pedraz, María; Araos, Pedro; García Marchena, Nuria; Serrano, Antonia; Romero Sanchiz, Pablo; Suárez, Juan; Castilla Ortega, Estela; Mayoral Cleries, Fermín; Ruiz, Juan Jesús; Pastor, Antonio; Barrios, Vicente; Chowen, Julie A.; Argente, Jesús; Torrens, Marta; Torre Fornell, Rafael de la; Rodríguez de Fonseca, Fernando; Pavón, Francisco Javier (Frontiers, 2015)
    There are sex differences in the progression of drug addiction, relapse, and response to therapies. Because biological factors participate in these differences, they should be considered when using biomarkers for addiction. ...
  • Short stature with low insulin-like growth factor 1 availability due to pregnancy-associated plasma protein A2 deficiency in a Saudi family
    Babiker, Amir; Al Noaim, Khalid; Al Swaid, Abdulrahman; Alfadhel, Majid; Deeb, Asma; Martín Rivada, Álvaro; Barrios, Vicente; Pérez Jurado, Luis Alberto; Alfares, Ahmed; Al Alwan, Ibrahim; Argente, Jesús (Wiley, 2021)
    In 2016 a new syndrome with postnatal short stature and low IGF1 bioavailability caused by biallelic loss-of-function mutations in the gene encoding the metalloproteinase pregnancy-associated plasma protein A2 (PAPP-A2) ...

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