Search Results - "Latronico, Ana C."
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Hypothalamic miR-30 regulates puberty onset via repression of the puberty-suppressing factor, Mkrn3
Published in PLoS biology (07-11-2019)“…Mkrn3, the maternally imprinted gene encoding the makorin RING-finger protein-3, has recently emerged as putative pubertal repressor, as evidenced by central…”
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Transcriptomic Response to 1,25-Dihydroxyvitamin D in Human Fibroblasts with or without a Functional Vitamin D Receptor (VDR): Novel Target Genes and Insights into VDR Basal Transcriptional Activity
Published in Cells (Basel, Switzerland) (05-04-2019)“…The vitamin D receptor (VDR) mediates vitamin D actions beyond bone health. While VDR activation by 1,25-dihydroxyvitamin D (1,25D) leads to robust…”
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3
Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene
Published in The journal of clinical endocrinology and metabolism (01-07-2003)“…Androgen insensitivity syndrome (AIS) is caused by mutations in the androgen receptor gene and is associated with a variety of phenotypes in 46,XY individuals,…”
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4
Molecular basis of normal and pathological puberty: from basic mechanisms to clinical implications
Published in The lancet. Diabetes & endocrinology (01-03-2023)“…Puberty is a major maturational event; its mechanisms and timing are driven by genetic determinants, but also controlled by endogenous and environmental cues…”
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5
Precocious sexual maturation: Unravelling the mechanisms of pubertal onset through clinical observations
Published in Journal of neuroendocrinology (01-02-2022)“…Puberty is a crucial biological process normally occurring at a specific time during the lifespan, during which sexual and somatic maturation are completed,…”
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Progression to Adrenocortical Tumorigenesis in Mice and Humans through Insulin-Like Growth Factor 2 and β-Catenin
Published in The American journal of pathology (01-09-2012)“…Dysregulation of the WNT and insulin-like growth factor 2 (IGF2) signaling pathways has been implicated in sporadic and syndromic forms of adrenocortical…”
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Testicular and Ovarian Resistance to Luteinizing Hormone Caused by Inactivating Mutations of the Luteinizing Hormone–Receptor Gene
Published in The New England journal of medicine (22-02-1996)“…In normal males, luteinizing hormone (LH) regulates the function of Leydig cells and, hence, male sexual differentiation, pubertal androgenization, male sexual…”
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Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty
Published in The journal of clinical endocrinology and metabolism (17-11-2023)“…Abstract Context The melanocortin 3 receptor (MC3R) has recently emerged as a critical regulator of pubertal timing, linear growth, and the acquisition of lean…”
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Anthropometric, metabolic, and reproductive outcomes of patients with central precocious puberty treated with leuprorelin acetate 3-month depot (11.25 mg)
Published in Journal of pediatric endocrinology & metabolism : JPEM (25-11-2021)“…Longer-acting gonadotropin-releasing hormone analogs (GnRHa) have been widely used for central precocious puberty (CPP) treatment. However, the follow-up of…”
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10
Evaluation of pediatric diabetes mellitus after SARS-CoV-2 infection: A long-term prospective case series
Published in Clinics (São Paulo, Brazil) (01-01-2023)Get full text
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Sonic Hedgehog Signaling Is Active in Human Adrenal Cortex Development and Deregulated in Adrenocortical Tumors
Published in The journal of clinical endocrinology and metabolism (01-07-2014)“…Background: The sonic hedgehog (SHH) pathway plays a key role in rodent adrenal cortex development and is involved in tumorigenesis in several human tissues,…”
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Assessment of stress levels in girls with central precocious puberty before and during long-acting gonadotropin-releasing hormone agonist treatment: a pilot study
Published in Journal of pediatric endocrinology & metabolism : JPEM (24-05-2017)“…The objective of the study was to determine the stress levels of girls with central precocious puberty (CPP) before and during treatment with a long-acting…”
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13
Altered expression of noncanonical Wnt pathway genes in paediatric and adult adrenocortical tumours
Published in Clinical endocrinology (Oxford) (01-10-2014)“…Summary Context The role of planar cell polarity (Wnt/PCP) and calcium‐dependent (Wnt/Ca) noncanonical Wnt pathways in adrenocortical tumours (ACTs) is…”
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14
A Novel Nonsense Mutation in the First Zinc Finger of the Vitamin D Receptor Causing Hereditary 1,25-Dihydroxyvitamin D3-Resistant Rickets
Published in The journal of clinical endocrinology and metabolism (01-11-1997)“…Hereditary 1,25-dihydroxyvitamin D3[ 1,25-(OH)2D3]-resistant rickets (HVDRR) is a rare autosomal recessive disorder resulting in target organ resistance to the…”
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15
A Single Luteinizing Hormone Determination 2 Hours after Depot Leuprolide Is Useful for Therapy Monitoring of Gonadotropin-Dependent Precocious Puberty in Girls
Published in The journal of clinical endocrinology and metabolism (01-09-2004)“…Long-acting GnRH analogs represent the standard treatment for gonadotropin-dependent precocious puberty. The aim of this study was to determine the hormonal…”
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Pituitary Magnetic Resonance Imaging and Function in Patients with Growth Hormone Deficiency with and without Mutations in GHRH-R, GH-1, or PROP-1 Genes
Published in The journal of clinical endocrinology and metabolism (01-11-2002)“…Pituitary stalk interruption and ectopic posterior lobe on magnetic resonance imaging (MRI) are frequently observed in patients with GH deficiency (GHD), but…”
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A Homozygous Microdeletion in Helix 7 of the Luteinizing Hormone Receptor Associated with Familial Testicular and Ovarian Resistance Is Due to Both Decreased Cell Surface Expression and Impaired Effector Activation by the Cell Surface Receptor
Published in Molecular endocrinology (Baltimore, Md.) (01-03-1998)“…In this report, the genomic DNA was examined from two siblings with gonadal LH resistance. A 46,XY pseudohermaphrodite presented with female external genitalia…”
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Treatment of gonadotropin dependent precocious puberty due to hypothalamic hamartoma with gonadotropin releasing hormone agonist depot
Published in Archives of disease in childhood (01-03-1999)“…The gonadotropin releasing hormone (GnRH) secreting hypothalamic hamartoma (HH) is a congenital malformation consisting of a heterotopic mass of nervous tissue…”
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New causes of central precocious puberty: the role of genetic factors
Published in Neuroendocrinology (01-01-2014)“…A pivotal event in the onset of puberty in humans is the reemergence of the pulsatile release of the gonadotropin-releasing hormone (GnRH) from hypothalamic…”
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20
Clinical features of women with resistance to luteinizing hormone
Published in Clinical endocrinology (Oxford) (01-12-1999)“…OBJECTIVE To review clinical and hormonal characteristics of new and published females with LH resistance. PATIENTS Seven sisters of patients with male…”
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