A5030012178- Mitochondrial Function and Pathology
- Genetics, Aging, and Longevity in Model Organisms
- Dialysis and Renal Disease Management
- Central Venous Catheters and Hemodialysis
- Genetics and Neurodevelopmental Disorders
- Genetic Syndromes and Imprinting
- Vascular Procedures and Complications
- Adipose Tissue and Metabolism
- Diet and metabolism studies
- Cardiac Imaging and Diagnostics
- Autism Spectrum Disorder Research
- Coenzyme Q10 studies and effects
- Biochemical effects in animals
- Genomics and Rare Diseases
- Peripheral Artery Disease Management
- Tuberculosis Research and Epidemiology
- Advanced MRI Techniques and Applications
- Epigenetics and DNA Methylation
- Cancer-related gene regulation
- Parathyroid Disorders and Treatments
- Tumors and Oncological Cases
- Folate and B Vitamins Research
- Connective tissue disorders research
- Cardiac Ischemia and Reperfusion
- Hepatitis C virus research
Heidelberg University
2021-2025
University Hospital Heidelberg
2023-2024
Institute of Human Genetics
2023
University of Amsterdam
2023
Western University
2023
Sorbonne Université
2023
Pitié-Salpêtrière Hospital
2023
Universitätsklinikum Aachen
2021
RWTH Aachen University
2021
Centre Hospitalier Universitaire de Nîmes
2020
Previous studies have consistently shown that caloric restriction (CR) decreases mitochondrial reactive oxygen species (ROS) (mitROS) generation and oxidative damage to mtDNA proteins, increases maximum longevity, although the mechanisms responsible for this are unknown. We recently found protein (PR) also produces these changes independent of energy restriction. Various facts link methionine aging, (MetR) without increases, like CR, longevity. thus hypothesized MetR is decrease in mitROS...
El acceso vascular para hemodiálisis es esencial el enfermo renal tanto por su morbimortalidad asociada como repercusión en la calidad de vida. proceso que va desde creación y mantenimiento del hasta tratamiento sus complicaciones constituye un reto toma decisiones debido a complejidad patología existente diversidad especialidades involucradas. Con fin conseguir abordaje consensuado, Grupo Español Multidisciplinar Acceso Vascular (GEMAV), incluye expertos las cinco sociedades científicas...
Caloric restriction (CR) decreases oxidative damage, which contributes to the slowing of aging rate. It is not known if such are due calories themselves or specific dietary components. In this work, ingestion proteins Wistar rats was decreased by 40% below that controls. After 7 weeks, liver protein-restricted (PR) animals showed in protein degree membrane unsaturation, and mitochondrial complex I content. The results previous information suggest decrease rate induced PR can be part reactive...
Eighty percent dietary methionine restriction (MetR) in rodents (without calorie restriction), like (DR), increases maximum longevity and strongly decreases mitochondrial reactive oxygen species (ROS) production oxidative stress. MetR also lowers the degree of membrane fatty acid unsaturation rat liver. Mitochondrial ROS generation are only two known factors linking stress with vertebrates. However, it is unknown whether 40% MetR, relevant to clarify mechanisms action standard (40%) DR can...
Sustained Akt activation induces cardiac hypertrophy (LVH), which may lead to heart failure. This study tested the hypothesis that contributes mitochondrial dysfunction in pathological LVH. induced LVH and progressive repression of fatty acid oxidation (FAO) pathways. Preventing by inhibiting mTOR failed prevent decline function, but glucose utilization was maintained. represses expression regulatory, FAO, oxidative phosphorylation genes vivo correlate with duration part reducing...
Vascular access for haemodialysis is key in renal patients both due to its associated morbidity and mortality impact on quality of life. The process, from the creation maintenance vascular treatment complications, represents a challenge decision-making, because complexity existing disease diversity specialities involved. With view finding common approach, Spanish Multidisciplinary Group Access (GEMAV), which includes experts five scientific societies involved (nephrology [S.E.N.], surgery...
Abstract Hao‐Fountain syndrome (HAFOUS, OMIM: #616863) is a neurodevelopmental disorder caused by pathogenic variants in the gene USP7 coding for USP7, protein involved several crucial cellular homeostatic mechanisms and recently described MUST complex. The phenotype of HAFOUS insufficiently understood, yet there great need to better understand spectrum disease, genotype–phenotype correlations, disease trajectories. We now present larger cohort 32 additional individuals provide further...
Aging plays a central role in the occurrence of neurodegenerative diseases. Caloric restriction (CR) mitigates oxidative stress by decreasing rate generation endogenous damage, mechanism that can contribute to slowing aging induced this intervention. Various reports have recently linked methionine aging, and (MetR) without energy also increases life span. We thus hypothesized MetR be responsible, at least part, for decrease damage CR. In investigation we subjected male rats exactly same...
Changes in the indications for tracheostomy children have led to progressively greater involvement of paediatric pulmonologist care these patients. The aim this study was review current profile tracheostomised Spain. We undertook a longitudinal, multicentre over 2 yrs (2008 and 2009) all patients aged between 1 day 18 who had tracheostomy. study, involving Spanish hospitals, included 249 patients, whom 150 (60.2%) were <1 yr age. main procedure prolonged ventilation (n=156, 62.6%),...
Abstract Acquired resistance to MEK1/2 inhibitors (MEKi) arises through amplification of BRAF V600E or KRAS G13D reinstate ERK1/2 signalling. Here we show that and MEKi are reversible following drug withdrawal. Cells with addicted maintain a precise level signalling is optimal for cell proliferation survival, tumour growth in vivo. Robust activation withdrawal drives p57 KIP2 -dependent G1 cycle arrest senescence expression NOXA death, selecting against those cells amplified . required loss...
The most important factor that complicates the work of dysmorphologists is significant phenotypic variability human face. Next-Generation Phenotyping (NGP) tools assist clinicians with recognizing characteristic syndromic patterns are particularly challenged when confronted patients from populations different their training data. To end, we systematically analyzed impact genetic ancestry on facial dysmorphism. For purpose, established GestaltMatcher Database (GMDB) as a reference dataset for...
In 2016 and 2018, Chung, Jansen others described a new syndrome caused by haploinsufficiency of PHIP (pleckstrin homology domain interacting protein, OMIM *612,870) mainly characterized developmental delay (DD), learning difficulties/intellectual disability (ID), behavioral abnormalities, facial dysmorphism obesity (CHUJANS, #617991). So far, alterations appear to be rare cause DD/ID. “Omics” technologies such as exome sequencing or array analyses have led the identification distinct types ,...
ABSTRACT (Likely) pathogenic variants in NR2F1 are associated with Bosch‐Boonstra‐Schaaf optic atrophy syndrome (BBSOAS, OMIM #615722), a rare neurodevelopmental disorder. Patients present variety of symptoms, including intellectual disability, developmental delay, visual impairment, muscular hypotonia, seizures, and/or autistic features. Since it was first described 2014, the phenotype has steadily expanded. However, there is limited information regarding natural course Here, we data on...
Hao-Fountain syndrome is a rare neurodevelopmental disorder caused by mutations in the de-ubiquitinating enzyme USP7 (Ubiquitin Specific Protease 7). Due to novelty of disease and its poorly understood molecular mechanisms, treatments for are currently lacking. This study examines effects 11 patient-derived variants located within catalytic domain USP7, focusing on their impact enzyme's activity, thermodynamic stability, substrate recognition. Our findings reveal spectrum functional...
Our purpose was to identify the MR features of focal splenic lesions with an emphasis on enhancement patterns. The addition a contrast-enhanced dynamic sequence unenhanced images improves study lesions. analysis along clinical history permits either characterization most common or improvement in detection malignant diseases.Dynamic MRI and