Search Results - "Berensztein, Esperanza"
-
1
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene
Published in Proceedings of the National Academy of Sciences - PNAS (16-06-2020)“…Sex determination in mammals is governed by antagonistic interactions of two genetic pathways, imbalance in which may lead to disorders/differences of sex…”
Get full text
Journal Article -
2
Estrogens in Human Male Gonadotropin Secretion and Testicular Physiology From Infancy to Late Puberty
Published in Frontiers in endocrinology (Lausanne) (25-02-2020)“…Several reports in humans as well as transgenic mouse models have shown that estrogens play an important role in male reproduction and fertility. Estrogen…”
Get full text
Journal Article -
3
VIP Promotes Recruitment of Tregs to the Uterine-Placental Interface During the Peri-Implantation Period to Sustain a Tolerogenic Microenvironment
Published in Frontiers in immunology (08-01-2020)“…Uterine receptivity and embryo implantation are two main processes that need a finely regulated balance between pro-inflammatory and tolerogenic mediators to…”
Get full text
Journal Article -
4
Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort
Published in Journal of clinical research in pediatric endocrinology (01-03-2019)“…The aim of this study was the molecular characterization of the gene as the cause of 46,XY disorder in our population. We studied 41, non related, 46,XY…”
Get full text
Journal Article -
5
Expression of aromatase, estrogen receptor α and β, androgen receptor, and cytochrome P-450scc in the human early prepubertal testis
Published in Pediatric research (01-12-2006)“…The expression of aromatase, estrogen receptor alpha (ERalpha) and beta (ERbeta), androgen receptor (AR), and cytochrome P-450 side chain cleavage enzyme…”
Get full text
Journal Article -
6
Unique Dominant Negative Mutation in the N-Terminal Mitochondrial Targeting Sequence of StAR, Causing a Variant Form of Congenital Lipoid Adrenal Hyperplasia
Published in The journal of clinical endocrinology and metabolism (01-01-2013)“…Context: Steroid acute regulatory (StAR) protein is a mitochondria-targeted protein that is part of the transduceosome complex crucial for transport of…”
Get full text
Journal Article -
7
Role of IGFs and Insulin in the Human Testis During Postnatal Activation: Differentiation of Steroidogenic Cells
Published in Pediatric research (01-06-2008)“…Immunoexpression of IGF-I, IGF-II, type 1 IGF receptor (IGFR), insulin receptor (IR), and GH receptor (GHR) was analyzed in human testis, in three age groups…”
Get full text
Journal Article -
8
Apoptosis and Proliferation of Human Testicular Somatic and Germ Cells during Prepuberty: High Rate of Testicular Growth in Newborns Mediated by Decreased Apoptosis
Published in The journal of clinical endocrinology and metabolism (01-11-2002)“…Programmed cell death and proliferation are evolutionary conserved processes that play a major role during normal development and homeostasis. In the testis,…”
Get full text
Journal Article -
9
Expression of the IGF system in human adrenal tissues from early infancy to late puberty : Implications for the development of adrenarche
Published in Pediatric research (01-09-2005)“…IGF-1, IGF-2, and type 1 IGF receptor (IGF-R1) mRNA expression and immunolocalization and cell proliferation index were studied in human adrenals from early…”
Get full text
Journal Article -
10
Histidine decarboxylase inhibitors: a novel therapeutic option for the treatment of leydigioma
Published in Journal of endocrinology (01-12-2022)“…Recent reports indicate an increase in Leydig cell tumor (LCT) incidence. Radical orchiectomy is the standard therapy in children and adults, although it…”
Get full text
Journal Article -
11
Molecular and functional study of pediatric patients with Niemann-Pick C in Argentina
Published in Medicina (01-05-2022)“…Niemann-Pick type C (NP-C) is a rare, autosomal recessive disorder. At least 95% of all the cases with this disease are due to mutations in the NPC1 gene. The…”
Get more information
Journal Article -
12
Gonadal tumor development in 46,XX disorders of gonadal development
Published in European journal of endocrinology (01-09-2022)“…Background Differences/disorders of sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is…”
Get full text
Journal Article -
13
Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment
Published in Clinical endocrinology (Oxford) (01-05-2015)“…Summary Background IGF1R gene mutations have been associated with varying degrees of intrauterine and postnatal growth retardation, and microcephaly. Objective…”
Get full text
Journal Article -
14
Homeostasis loss in VIP deficient mice is associated with altered regulatory T cells recruitment
Published in Placenta (Eastbourne) (01-08-2019)Get full text
Journal Article -
15
A Surgical and Clinical Approach to Persistent Müllerian Duct Syndrome: Laparoscopic, Histological, and Molecular Findings
Published in Sexual development (01-08-2023)“…Persistent müllerian duct syndrome (PMDS) is characterized by the persistence of müllerian duct derivatives in otherwise normally virilized 46,XY males…”
Get more information
Journal Article -
16
Histamine H4 receptor as a novel therapeutic target for the treatment of Leydig-cell tumours in prepubertal boys
Published in European journal of cancer (1990) (01-03-2018)“…Leydig-cell tumours (LCTs) are rare endocrine tumours of the testicular interstitium, with recent increased incidence. Symptoms include precocious puberty in…”
Get full text
Journal Article -
17
DNA methylation is not involved in specific down-regulation of HSD3B2, NR4A1 and RARB genes in androgen-secreting cells of human adrenal cortex
Published in Molecular and cellular endocrinology (05-02-2017)“…We hypothesized that DNA methylation is involved in human adrenal functional zonation. mRNAs expression and methylation pattern of RARB, NR4A1 and HSD3B2 genes…”
Get full text
Journal Article -
18
H4 histamine receptors inhibit steroidogenesis and proliferation in Leydig cells
Published in Journal of endocrinology (01-12-2014)“…The histamine H4 receptor (HRH4), discovered only 13 years ago, is considered a promising drug target for allergy, inflammation, autoimmune disorders and…”
Get full text
Journal Article -
19
-
20
Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects
Published in Hormone research in paediatrics (2011)“…Three novel heterozygous SF-1 gene mutations affecting multiple members of two unrelated families with a history of 46,XY disorders of sex development (DSD)…”
Get more information
Journal Article