A5070892987- Ion Transport and Channel Regulation
- Parathyroid Disorders and Treatments
- Ion channel regulation and function
- Magnesium in Health and Disease
- Bone health and treatments
- Electrolyte and hormonal disorders
- Diabetes Management and Research
- Barrier Structure and Function Studies
- Neonatal Health and Biochemistry
- Medical Imaging and Pathology Studies
- Vitamin D Research Studies
- Pancreatic function and diabetes
- Diabetes and associated disorders
- Renal function and acid-base balance
- SARS-CoV-2 and COVID-19 Research
- Urinary Bladder and Prostate Research
- Nitric Oxide and Endothelin Effects
- Cancer Genomics and Diagnostics
- Aging, Health, and Disability
- Intracerebral and Subarachnoid Hemorrhage Research
- Congenital heart defects research
- Cardiomyopathy and Myosin Studies
- Neurogenetic and Muscular Disorders Research
- Genetic Syndromes and Imprinting
- Kidney Stones and Urolithiasis Treatments
Centre for Biomedical Network Research on Rare Diseases
2018-2024
Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas
2018-2024
BioCruces Health research Institute
2013-2024
Centro de Investigación Biomédica en Red
2018-2024
Hospital de Cruces
2013-2023
Instituto de Salud Carlos III
2019-2021
Spanish Biomedical Research Centre in Physiopathology of Obesity and Nutrition
2021
Hôpital Européen Georges-Pompidou
2015-2017
Assistance Publique – Hôpitaux de Paris
2015-2017
Hôpital Européen
2016-2017
ABSTRACT Claudin-16 protein (CLDN16) is a component of tight junctions (TJ) with restrictive distribution so far demonstrated mainly in the kidney. Here, we demonstrate expression CLDN16 also tooth germ and show that claudin-16 gene mutations result amelogenesis imperfecta (AI) 5 studied patients familial hypomagnesemia hypercalciuria nephrocalcinosis (FHHNC). To investigate role formation, murine model FHHNC showed deficiency led to altered secretory ameloblast TJ structure, lowering...
Introduction Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization cohort of 30 patients, one largest series described. By comparing with other published populations, considering that 80% our patients presented p.Ala204Thr Spanish founder mutation presumably associated common phenotype,...
Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) humans. Diabetes other less frequent also described. Variable penetrance intrafamilial variability demonstrated including severe prenatal phenotypes. Thus, it is important to differentiate this entity from others similar clinical features perform confirmatory molecular diagnosis.This study reports results HNF1B screening a cohort 60 patients 58 unrelated...
Abstract The aim of this study was to estimate the incidence diabetes mellitus in Basque Country and risk factors involved disease by reassessing an adult population after 7 years follow-up. In previous prevalence study, 847 people older than 18 were randomly selected from all over invited answer a medical questionnaire, followed physical examination oral glucose tolerance test. reassessment, same variables collected resulting cohort comprised 517 individuals whom 43 had at baseline....
Objective Monogenic diabetes can be misdiagnosed as type 1 or 2 in children. The right diagnosis is crucial for both therapeutic choice and prognosis influences genetic counseling. main objective of this study was to search monogenic Spanish pediatric patients suspected with lack autoimmunity at the onset disease. We also evaluated extra value ZnT8A addition classical IAA, GADA IA2A autoantibodies improve accuracy diagnosis. Methods Four hundred recent-onset (mean age 8.9 ± 3.9 years) were...
The p.Ala204Thr mutation (exon 7) of the CLCNKB gene is a "founder" that causes most type III Bartter syndrome cases in Spain. We performed genetic analysis gene, which encodes for chloride channel protein ClC-Kb, cohort 26 affected patients from 23 families. diagnostic algorithm was: first, detection mutation; second, detecting large deletions or duplications by Multiplex Ligation-dependent Probe Amplification and Quantitative PCR Short Fluorescent Fragments; third, sequencing coding...
The maintenance of magnesium (Mg2+) homeostasis is essential for human life. Cystathionine-β-synthase (CBS)-pair domain divalent metal cation transport mediators (CNNMs) have been described to be involved in maintaining Mg2+ homeostasis. Among these CNNMs, CNNM2 expressed the basolateral membrane kidney tubules where it reabsorption. A total four patients, two them with a suspected disorder calcium metabolism, and patients clinical diagnosis primary tubulopathy were screened mutations by...
Objective Molecular diagnosis is a useful diagnostic tool in calcium metabolism disorders. The calcium-sensing receptor (CaSR) known to play central role the regulation of extracellular homeostasis. We performed clinical, biochemical and genetic characterization sequence anomalies this cohort 130 individuals from 82 families with suspected alterations CASR gene, one largest series described. Methods gene was screened for mutations by polymerase chain reaction followed direct Sanger...
The GCM2 gene encodes a transcription factor predominantly expressed in parathyroid cells that is known to be critical for development, proliferation and maintenance of the cells. A cohort 127 Spanish patients with disorder calcium metabolism were screened mutations by Next-Generation Sequencing (NGS). targeted panel disorders phosphorus was designed include 65 genes associated these disorders. We observed two variants uncertain significance (p.(Ser487Phe) p.Asn315Asp), one likely pathogenic...
Abstract Context Familial neurohypophyseal diabetes insipidus is a rare disease produced by deficiency in the secretion of antidiuretic hormone and caused mutations arginine vasopressin gene. Objective Clinical, biochemical, genetic characterization group patients clinically diagnosed with familial insipidus, 1 largest cohorts protein neurophysin II (AVP-NPII) gene alterations studied so far. Design The AVP-NPII was screened for PCR followed direct Sanger sequencing 15 different unrelated...
Context: The DICER1 syndrome is a multiple neoplasia disorder caused by germline mutations in the gene. In patients, aggressive congenital pituitary tumors lead to neonatal Cushing's disease (CD). role of other corticotropinomas, however, remains unknown. Objective: To perform comprehensive screening for variants large cohort CD and analyze their possible contribution phenotype. Design, setting, patients interventions: We included 192 cases: ten young-onset (age <30 years at diagnosis) were...
Abstract Background Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubulopathy characterized by excessive urinary wasting of magnesium calcium, bilateral nephrocalcinosis, progressive chronic renal failure in childhood or adolescence. FHHNC caused mutations CLDN16 CLDN19 , which encode the tight‐junction proteins claudin‐16 claudin‐19, respectively. Most these are missense large deletions rare. Methods We examined clinical biochemical...
Hypocitraturia has been associated with metabolic acidosis and mineral disorders. The aim of this study was to investigate the occurrence urinary acidification defects underlying hypocitraturia. This retrospective observational included 67 patients (32 men), aged 40.7±15.1 years hypocitraturia (<1.67 mmol/24-h) nephrolithiasis, nephrocalcinosis, and/or bone demineralization, referred our center from 2000 2015. We aimed assess renal distal capacity, prevalence mechanisms defects. Patients low...
Introduction The disorders in the metabolism of calcium can present with manifestations that strongly suggest their diagnosis; however, most time, symptoms which they are expressed nonspecific or only as a laboratory finding, usually hypercalcemia. Because many these have genetic etiology, study, we sequenced selection 55 genes encoding principal proteins involved regulation metabolism. Methods A cohort 79 patients hypercalcemia were analyzed by next-generation sequencing. Results 30% our...
Abstract Bartter syndrome (BS) is a salt-losing hereditary tubulopathy characterized by hypokalemic metabolic alkalosis with secondary hyperaldosteronism. Confirmatory molecular diagnosis may be difficult due to genetic heterogeneity and overlapping of clinical symptoms. The aim our study was describe the different findings in patients classic BS. We included 27 (26 families) no identified pathogenic variants CLCNKB . used customized Ion AmpliSeq Next-Generation Sequencing panel including 44...
Familial hypocalciuric hypercalcemia type I is an autosomal dominant disorder caused by heterozygous loss-of-function mutations in the CASR gene and characterized moderately elevated serum calcium concentrations, low urinary excretion inappropriately normal or mildly parathyroid hormone (PTH) concentrations. We performed a clinical genetic characterization of one patient suspected familial I. Patient presented persistent with PTH 25-hydroxyvitamin D levels. The was screened for PCR followed...