Rocío Acuña‐Hidalgo
A5020604558- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Acute Myeloid Leukemia Research
- Chromosomal and Genetic Variations
- Genomics and Chromatin Dynamics
- Esophageal and GI Pathology
- Cancer Genomics and Diagnostics
- Glioma Diagnosis and Treatment
- Neurological and metabolic disorders
- Growth Hormone and Insulin-like Growth Factors
- Thyroid Disorders and Treatments
- Renal and related cancers
- Congenital gastrointestinal and neural anomalies
- Ion Transport and Channel Regulation
- Thyroid Cancer Diagnosis and Treatment
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- RNA Research and Splicing
- CRISPR and Genetic Engineering
- Polyamine Metabolism and Applications
- interferon and immune responses
- Genetic Associations and Epidemiology
- Amino Acid Enzymes and Metabolism
- Genetic Neurodegenerative Diseases
Max Planck Institute for Molecular Genetics
2018-2023
Radboud University Nijmegen
2014-2020
Radboud University Medical Center
2014-2020
Radboud Institute for Molecular Life Sciences
2014-2020
Charité - Universitätsmedizin Berlin
2020
University Medical Center
2014-2017
Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán
2010
Universidad Nacional Autónoma de México
2010
Instituto Nacional de Cardiología
2010
Instituto Nacional de Cardiologia
2010
<h3>Background</h3> Resistance to thyroid hormone is characterised by a lack of response peripheral tissues the active form (triiodothyronine, T3). In about 85% cases, mutation in <i>THRB</i>, gene coding for receptor β (TRβ), cause this disorder. Recently, individual reports described first patients with α (<i>THRA</i>) defects. <h3>Methods</h3> We used longitudinal clinical assessments over period 18 years at one hospital setting combined biochemical and molecular studies characterise...
Abstract Introduction A minority of patients with sporadic early‐onset Alzheimer's disease (AD) exhibit de novo germ line mutations in the autosomal dominant genes such as APP PSEN1 , or PSEN2 . We hypothesized that negatively screened may harbor somatic variants these genes. Methods applied an ultrasensitive approach based on single‐molecule molecular inversion probes followed by deep next generation sequencing 11 to 100 brain and 355 blood samples from 445 AD (>80% exhibited early...
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS caused de novo germline mutations clustering to 12bp hotspot in exon 4 SETBP1. Mutations this disrupt degron, signal for the regulation protein degradation, lead accumulation SETBP1 protein. Overlapping have been observed recurrently as somatic events leukemia. We collected clinical information 47 patients (including...
Objectives Screening for variants in SLC12A1 and SLC12A3 genes, encoding the renal Na+:Cl− (NCC) Na+:K+:2Cl− (NKCC2) cotransporters, respectively, 3125 members of Framingham Heart Study (FHS) revealed that carrying a rare mutation one these genes was associated with significant reduction blood pressure, risk arterial hypertension, death due to cardiovascular disease. Because near 60% mutations identified have not been related Bartter's or Gitelman's disease, consequence such on cotransporter...
De novo, germline variants in DNMT3A cause Tatton–Brown–Rahman syndrome (TBRS). This condition is characterized by overgrowth, distinctive facial appearance, and intellectual disability. Somatic frequently occur hematologic malignances, particularly acute myeloid leukemia. The Arg882 residue the most common site of somatic variants, has also been altered patients with TBRS. Here we present three additional this disorder attributed to that disrupt codon, suggesting codon may be a mutation...
Ependymoma is a tumor of the brain or spinal cord. The two most common and aggressive molecular groups ependymoma are supratentorial ZFTA-fusion associated posterior fossa group A. In both groups, tumors occur mainly in young children frequently recur after treatment. Although mechanisms underlying these diseases have recently been uncovered, they remain difficult to target innovative therapeutic approaches urgently needed. Here, we use genome-wide chromosome conformation capture (Hi-C),...
Continued advances in variant effect prediction are necessary to demonstrate the ability of machine learning methods accurately determine clinical impact variants unknown significance (VUS). Towards this goal, ARSA Critical Assessment Genome Interpretation (CAGI) challenge was designed characterize progress by utilizing 219 experimentally assayed missense VUS
Background: The VATER/VACTERL association (VACTERL) is defined as the non-random occurrence of following congenital anomalies: Vertebral, Anal, Cardiac, Tracheal-Esophageal, Renal, and Limb anomalies. As no unequivocal candidate gene has been identified yet, patients are diagnosed phenotypically. aims this study were to identify with monogenic disorders using a genetics-first approach, whether variants in genes involved etiology VACTERL or individual features VACTERL: Anorectal malformation...
<h3>Background</h3> Bohring-Opitz syndrome (BOS) is a rare genetic disorder characterised by recognisable craniofacial appearance and typical 'BOS' posture. BOS caused sporadic mutations of<i>ASXL1</i>. However, several patients with have no molecular diagnosis, suggesting clinical heterogeneity. <h3>Objectives</h3> To expand the phenotypical spectrum of autosomal recessive variants <i>KLHL7</i>, reported as causing Crisponi syndrome/cold-induced sweating type 1 (CS/CISS1)-like syndrome....
Introduction Anorectal malformations (ARM) are rare congenital malformations, resulting from disturbed hindgut development. A genetic etiology has been suggested, but evidence for the involvement of specific genes is scarce. We evaluated contribution and low-frequency coding variants in ARM etiology, assuming a multifactorial model. Methods analyzed 568 Caucasian patients 1,860 population-based controls using Illumina HumanExome Beadchip array, which contains >240,000 variants. GenomeStudio...
Paraneoplastic syndromes can be defined as manifestations in distant places of tumors or metastasis, which are not related with tumoral growth. Most these caused by substances secreted the tumor, that mimic natural hormones, interfere plasma proteins.The rate paraneoplastic neurological is less than 0.5/100,000 per year, and affect about 0.01% cancer patients. The pathogenesis attributed to humoral autoimmunity, due existence a great variety antibodies relationship alterations associated....
Abstract Ependymoma is a tumor of the brain or spinal cord. The two most common and aggressive molecular groups ependymoma are supratentorial RELA-fusion associated group posterior fossa A. In both groups, tumors occur mainly in young children frequently recur after treatment1. Although mechanisms underlying these diseases have recently been uncovered, they remain difficult to target innovative therapeutic approaches urgently needed. Here, we use genome-wide chromosome conformation capture...