A5044129421- Sexual Differentiation and Disorders
- Reproductive Biology and Fertility
- Hormonal and reproductive studies
- Congenital heart defects research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Metabolism and Genetic Disorders
- Ovarian function and disorders
- Congenital Heart Disease Studies
- Reproductive Physiology in Livestock
- Prenatal Screening and Diagnostics
- Growth Hormone and Insulin-like Growth Factors
- Hormonal Regulation and Hypertension
- Genomics and Rare Diseases
- Sperm and Testicular Function
- RNA modifications and cancer
- Coronary Artery Anomalies
- Mitochondrial Function and Pathology
- SARS-CoV-2 and COVID-19 Research
- Cancer, Hypoxia, and Metabolism
- Estrogen and related hormone effects
- Adrenal Hormones and Disorders
- Genetic Neurodegenerative Diseases
- Autism Spectrum Disorder Research
Administración Nacional de Laboratorios e Institutos de Salud
2011-2024
University of Buenos Aires
2002-2024
Fundación Ciencias Exactas y Naturales
1995-2022
Experimental Medicine and Biology Institute
2003-2022
Consejo Nacional de Investigaciones Científicas y Técnicas
2011-2022
Ministerio de Salud
2020
Centro Científico Tecnológico - Tucumán
2010
Academia Nacional de Medicina
2006
Centro de Neumologia Pediatrica
2002
Universitat de Barcelona
1997
Abstract The yeast Pichia pastoris is a cost-effective and easily scalable system for recombinant protein production. In this work we compared the conformation of receptor binding domain (RBD) from severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) Spike expressed in P. well established HEK-293T mammalian cell system. RBD obtained both cells was properly folded, as indicated by UV-absorption, circular dichroism tryptophan fluorescence. They also had similar stability,...
SOX8 is an HMG-box transcription factor closely related to SRY and SOX9. Deletion of the gene encoding Sox8 in mice causes reproductive dysfunction but role humans unknown. Here, we show that expressed somatic cells early developing gonad human influences sex determination. We identified two individuals with 46, XY disorders/differences development (DSD) chromosomal rearrangements encompassing locus a third individual DSD missense mutation SOX8. In vitro functional assays indicate this...
Premature ovarian failure (POF) is characterized by hypergonadotropic amenorrhoea before the age of 40. Inhibin alpha-subunit (INHalpha) gene proposed as a candidate due to its role in negative feedback control FSH.Polymorphism -16C>T INHalpha was studied 61 POF patients and 82 controls above 40 years old (C > 40). Substitution 769G>A 59 patients, 76 C 73 below < 40).No significant difference risk development for -16T allele found when comparing idiopathic (I-POF) with (Odds ratio = 1.46;...
Abstract We report on a newborn infant with mosaic trisomy 9. The patient shared only few anomalies the previously reported cases of this chromosome abnormality but had severe craniofacial malformation not yet in syndrome.
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism, and accounts for 90–95% CAH cases. The affected enzyme, P450C21, encoded by CYP21A2 gene, located together with a 98% nucleotide sequence identity CYP21A1P pseudogene, on chromosome 6p21.3. Even though patients carry CYP21A1P-derived mutations, an increasing number novel rare mutations in disease causing alleles were found last years. In present work, we describe five...
Abstract The yeast Pichia pastoris is a cost-effective and easily scalable system for recombinant protein production. In this work we compared the conformation of receptor binding domain (RBD) from SARS-CoV-2 Spike expressed in P. well established HEK-293T mammalian cell system. RBD obtained both cells was properly folded, as indicated by UV-absorption, circular dichroism tryptophan fluorescence. They also had similar stability, temperature-induced unfolding (observed T m were 50 °C 52...
Abstract Apoptosis is the biological process by which follicular cells are eliminated in atretic follicles. The aim of present study was to examine vitro effect a GnRH‐a (leuprolide acetate, LA) and its interactions with FSH, dibutyryl cAMP, growth factors (IGF‐I, EGF, FGF) on apoptosis early antral ovarian follicles obtained from prepubertal DES‐ treated rats. Follicles cultured 24 hr absence hormones showed spontaneous onset apoptotic DNA fragmentation. presence FSH suppressed...
Abstract Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90–95% of CAH cases. In this work we performed an extensive survey mutations and SNPs modifying the coding sequence CYP21A2 gene. Using bioinformatic tools two plausible structures as templates, initially classified all known mutants (n = 343) according their putative functional impacts, which were either reported in literature or inferred from structural models. We then a detailed analysis on subset...
Fragile X mental retardation protein (FMRP) belongs to a small family of RNA-binding proteins. Its absence or inactivity is responsible for fragile syndrome, the most common cause inherited retardation. Despite its ubiquitous expression, FMRP function and expression remain almost understudied in non-neuronal tissues, though previous studies on germline development during oogenesis may suggest special this also ovarian tissue. In addition, well-documented association FMR1 premutation state...
Summary objective To characterize the molecular basis of 21‐hydroxylase deficiency in a group Argentine patients presenting classical and nonclassical forms disease. DESIGN analyse frequency point mutations CYP21 gene by DNA amplification mutation detection. Forty‐one from 36 nonrelated families: 25 (NC), 11 salt‐wasting (SW) five simple virilising (SV). A total 27 parents 13 nonaffected siblings were also analysed. MEASUREMENTS Basal steroid hormones 17‐hydroxyprogesterone levels following...
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism and accounts for 90–95% CAH cases. In present work, we analyzed functional consequence four novel previously reported point CYP21A2 mutations -p.R132C, p.R149C, p.M283V, p.E431K- found in Argentinean deficient patients. addition, report an acceptor splice site mutation, c.652-2A>G, a classical patient compound heterozygosity with rare p.R483Q mutation. We performed...
The premutation state of FMR1 (Fragile X Mental Retardation 1) has been associated with primary ovarian insufficiency (POI), and is the most common known genetic cause for 46,XX patients. Nevertheless, very few studies have analyzed its frequency in Latin American populations. Additionally, a relationship between alleles carrying cryptic microdeletion 5'UTR FMR2 onset POI only studied one population. Our aim was to analyze incidence premutations putative microdeletions exon 1 cohort...
NKX2-5 is a homeodomain transcription factor that plays crucial role in heart development. It the first gene where single genetic variant (GV) was found to be associated with congenital diseases humans. In this study, we carried out comprehensive survey of GVs build unified, curated, and updated compilation all available GVs. We retrieved total 1,380 unique From these, 970 had information on their frequency general population 143 have been linked pathogenic phenotypes vitro effect...
Congenital anomalies (CA) affect 3-5% of newborns, representing the second-leading cause infant mortality in Argentina. Multiple congenital (MCA) have a prevalence 2.26/1000 births while heart diseases (CHD) are most frequent CA with 4.06/1000 births. The aim this study was to identify genetic causes Argentinian patients MCA and isolated CHD. We recruited 366 (172 194 CHD) born between June 2015 August 2019 at public hospitals. DNA from peripheral blood obtained all patients, karyotyping...
Congenital conotruncal heart defects (CCHD) are a subset of serious congenital (CHD) the cardiac outflow tracts or great arteries. Its frequency is estimated in 1/1000 live births, accounting for approximately 10–30% all CHD cases. Chromosomal abnormalities and copy number variants (CNVs) contribute to disease risk patients with syndromic and/or non-syndromic forms. Although largely studied several populations, their frequencies barely reported Latin American countries. The aim this study...
To study the origin of interleukin 1 (IL-1) present in human follicular fluid we determined percentage macrophages (MO) and cells with HLA-DR antigen (DR+) 22 samples (FF) from women undergoing vitro fertilization, examined release IL-1 beta by cultures purified granulosa (GC). The number red blood (RBC) crude preparation was taken as a measure possible contamination peripheral monocytes (assuming ratio one monocyte or MO per 10(4) RBC). For evaluation DR+ percentages employed an indirect...
In human breast cancer the proliferating cells appear to differ from those containing estrogen receptors (ER) as shown by studies on isolated cellular subpopulations.1 this paper in vitro effect of 17-β-estradiol cell proliferation 30 primary tumors was studied. The several estradiol concentrations assayed, and influence diethylstilbestrol, tamoxifen, nafoxidine also tested. response these compounds measured through thymidine labeling index (TLI). When exposed 10−9 mol/l 10−8 estradiol, 14...
Chromosomal trisomies are the most frequent major chromosomal anomalies in humans and can be present a mosaic or non-mosaic constitution. We report first case of newborn girl presenting with multiple congenital double trisomy involving chromosome 14 X detected by array CGH. Karyotype analysis revealed 2 independent abnormal cell lines absence 46,XX 48,XXX,+14 lineages. The patient showed clinical characteristics 14. Analysis autosomal DNA markers proband's blood sample did not support...