A5065403603- Thyroid Disorders and Treatments
- Growth Hormone and Insulin-like Growth Factors
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Neuroscience and Neuropharmacology Research
- Genetics and Neurodevelopmental Disorders
- Colorectal and Anal Carcinomas
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Diabetes and associated disorders
- Genomics and Chromatin Dynamics
- Neuroscience of respiration and sleep
- Pancreatic function and diabetes
- Cancer-related molecular mechanisms research
- Genetic Syndromes and Imprinting
- Genetic factors in colorectal cancer
- Ion channel regulation and function
- Pituitary Gland Disorders and Treatments
- RNA Research and Splicing
- Congenital Diaphragmatic Hernia Studies
- RNA modifications and cancer
- Biochemical Analysis and Sensing Techniques
- Connective tissue disorders research
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Regulation of Appetite and Obesity
- interferon and immune responses
- Neonatal Respiratory Health Research
Hospital Universitario La Paz
2014-2024
Centre for Biomedical Network Research on Rare Diseases
2012-2024
Instituto de Salud Carlos III
2013-2024
Instituto de Investigación de Enfermedades Raras
2010-2023
Universidad Autónoma de Madrid
2009-2021
Hospital La Paz Institute for Health Research
2019
Museo Nacional de Sanidad
2019
Centro de Investigación Biomédica en Red
2009-2017
Hospital Infantil Universitario Niño Jesús
2001-2012
Menéndez Pelayo International University
2004
Sten Göthe, Zhendong Wang, Lily Ng, Jenny M. Kindblom, Angel Campos Barros, Claes Ohlsson, Björn Vennström, and Douglas Forrest Laboratory of Developmental Biology, CMB, Karolinska Institute, Stockholm, S-17 177, Sweden; Department Human Genetics, Mount Sinai School Medicine, New York, York 10029 USA; Research Centre for Endocrinology Metabolism, Departments Internal Medicine Physiology, Gothenburg University, Gothenburg, S-41345, Sweden
Thyroid hormone signaling during a postnatal period in the mouse is essential for cochlear development and subsequent onset of hearing. To study control this temporal dependency, we investigated role iodothyronine deiodinases, which target tissues convert prohormone thyroxine into triiodothyronine (T3), active ligand thyroid receptor (TR). Type 2 5′-deiodinase (D2) activity rose dramatically cochlea to peak around day 7 (P7), after declined by P10. This few days before hearing suggests D2...
The effects of nutritional selenium (Se) deficiency over a period three generations and combined iodine on hepatic cerebrocortical iodothyronine deiodinases circulating thyroid hormone levels were examined in the rat. Se strongly decreased type I 5'- 5-deiodinase to 6-13% that controls. Iodine depletion had only marginal decreasing effect activity. Cerebrocortical II 5'-deiodinase was Se-deficient, iodine-replete rats. Its 5-6-fold elevation iodine-deficient rats not reversed by additional...
SHOX mutations have been detected in approximately 70% of Léri-Weill dyschondrosteosis (LWD) and 2.5% idiopathic short stature (ISS) cases, suggesting the implication other genes or loci. The recent identification NPR2 ISS suggested that may also be involved disproportionate stature.The objective study was to investigate whether can account for a proportion cases referred LWD whom no mutation detected.We undertook screening 173 individuals suspected 95 ISS, with known defect its enhancers....
Musa, A; Hessenius, C; Gaio, U Campos-Barros, Pinna, G; Baumgartner, A Author Information
Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by disproportionate short stature and the Madelung deformity of forearm. SHOX mutations pseudoautosomal region 1 deletions encompassing or its enhancers have been identified in approximately 60% LWD 15% idiopathic (ISS) individuals. Recently duplications described LWD/ISS but also individuals with other clinical manifestations, thus questioning their pathogenicity.The objective study was to investigate pathogenicity...
<h3>Abstract</h3> Blood endothelial cells actively regulate egress of leukocytes into peripheral tissues in response to inflammatory insult. The resolution inflammation is critical for healing and return homeostasis, but the timing mechanisms involved a non-inflamed state are not well-understood. We examined vascular activation comparing NFκB-driven TNFα JAK/STAT-mediated IFNγ. Pro-adhesive gene expression, phenotype secretome human from 6 beds were measured under chronic cytokine...
Patients with resistance to thyroid hormone (RTH) exhibit elevated levels and inappropriate thyrotropin (thyroid-stimulating hormone, or TSH) production. The molecular basis of this disorder resides in the dominant inhibition endogenous receptors (TRs) by a mutant receptor. To determine relative contributions pituitary versus hypothalamic dysregulated production these patients, we developed transgenic mouse model pituitary-specific expression TR (Δ337T). equivalent mutation humans is...
Abstract Type 1 deiodinase (D1) metabolizes different forms of thyroid hormones to control levels T3, the active ligand for hormone receptors (TR). The D1 gene is itself T3-inducible and here, regulation expression by TRα1 TRβ, which act as T3-dependent transcription factors, was investigated in receptor-deficient mice. Liver kidney mRNA activity were reduced TRβ−/− but not TRα1−/− remained weakly T3 inducible TRβ–/– mice whereas induction abolished double mutant TRα1–/–TRβ–/– This indicates...
In the present study we investigated biochemical properties of in vitro phenolic (5'D) and tyrosyl (5D) ring deiodination tissue concentrations T4, T3, rT3 adult human central nervous system (CNS) tissue. All samples were obtained from nontumoral at autopsy (n = 6) or neurosurgical operation 5). Both deiodinase activities demonstrable all intraoperatively, whereas only was evident tissues postmortem. The pathway corresponded to type II 5'-deiodinase isoenzyme with regard its high affinity...
Up to 90% of circulating IGF-I and IGF-II are carried bound either IGF binding protein (IGFBP)-3 or IGFBP-5 the acid-labile subunit (ALS) in form tertiary complexes that extend their half-life. Three cases complete ALS deficiency have been recently reported short-stature patients with very low IGFBP-3 levels who presented homozygous compound heterozygous mutations encoding gene (IGFALS; 16p13.3), thus supporting a role for regulation bioavailability IGFs during postnatal growth.We present...
To date, 16 IGFALS mutations in 21 patients with acid-labile subunit (ALS) deficiency have been reported. The impact of heterozygosity for on growth is unknown.The study evaluates the heterozygous expression phenotype based data collected by International ALS Consortium.Patient information was derived from Registry, which includes and family members who were either carriers or homozygous wild-type. Within each family, effect stature analyzed as follows: 1) two mutant alleles (2ALS) vs....
Cerebrospinal fluid (CSF) levels of rT(3) were evaluated in 21 euthyroid patients with overt Alzheimer's disease (AD) and 18 matched healthy controls. The assessment also included transthyretin total T(3) T(4) CSF concentrations. Despite normal circulating thyroid hormone levels, AD subjects showed significantly increased an to ratio the face unchanged levels. These results suggest abnormal intracerebral metabolism possibly occurrence brain hypothyroidism, either as a secondary consequence...
SHOX (short stature homeobox-containing gene) encodes a transcription factor implicated in skeletal development. haploinsufficiency has been demonstrated Leri–Weill dyschondrosteosis (LWD), dysplasia associated with disproportionate short stature, as well variable proportion of cases idiopathic (ISS). In order to gain insight into the signalling pathways, we performed yeast two-hybrid screen identify SHOX-interacting proteins. Two factors, SOX5 and SOX6, were identified....
Abstract: The 24‐h patterns of tissue thyroid hormone concentrations and type II 5′‐ III 5‐iodothyronine deiodinase (5′D‐II 5D‐III, respectively) activities were determined at 4‐h intervals in different brain regions male euthyroid rats entrained to a regular 12‐h light/12‐h dark cycle (lights on 6:00 a.m.). Activity 5′D‐II, which catalyzes the intracellular conversion thyroxine (T 4 ) 3,3′,5‐triiodo‐ l ‐thyronine 3 CNS, both T exhibited significant daily variations all examined. Periodic...
OBJECTIVE: Coexpression of GH secretagogue receptor and ghrelin in the pancreas suggests that this peptide is involved glucose metabolism. Previous reports adult humans have demonstrated plasma levels decrease after oral administration. However, no data are available children. Therefore, aim study was to analyze response obese children SUBJECTS AND METHODS: Twenty-eight ranging from Tanner I V were studied. All subjects given 0.75 g/kg (maximum 75 g) solution overnight fasting. Ghrelin,...