A5016885225- Nuclear Structure and Function
- Genetic Syndromes and Imprinting
- RNA Research and Splicing
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Plant Reproductive Biology
- Rheumatoid Arthritis Research and Therapies
- Hypothalamic control of reproductive hormones
- Circular RNAs in diseases
- Nutrition, Genetics, and Disease
- Healthcare and Venom Research
- Genomics and Chromatin Dynamics
- Cardiovascular Disease and Adiposity
- Autoimmune and Inflammatory Disorders Research
- Spondyloarthritis Studies and Treatments
- Ubiquitin and proteasome pathways
- Connective tissue disorders research
- Estrogen and related hormone effects
- Chronic Lymphocytic Leukemia Research
- RNA modifications and cancer
- Chronic Myeloid Leukemia Treatments
- Growth Hormone and Insulin-like Growth Factors
- Plant Molecular Biology Research
- PARP inhibition in cancer therapy
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2019-2023
Hospital Privado
2021
Central precocious puberty (CPP) has been associated with loss-of-function mutations in 2 paternally expressed genes (MKRN3 and DLK1). Rare defects the DLk1 were also poor metabolic phenotype at adulthood.Our aim was to investigate genetic biochemical aspects of DLK1 a Spanish cohort children CPP without MKRN3 mutations.A large idiopathic (Spanish PUBERE Registry) studied. Genomic deoxyribonucleic acid obtained from 444 individuals (168 index cases) their close relatives. Automatic...
Abstract Context Loss-of-function mutations of makorin RING finger protein 3 (MKRN3) are the most common monogenic cause familial central precocious puberty (CPP). Objective To describe clinical and hormonal features a large cohort patients with CPP due to MKRN3 compare characteristics different types genetic defects. Methods Multiethnic 716 or idiopathic screened for using Sanger sequencing. A group 156 Brazilian girls (ICPP) was used as control group. Results Seventy-one (45 26 boys from...
Abstract Background Several rare loss-of-function mutations of delta-like noncanonical notch ligand 1 (DLK1) have been described in non-syndromic children with familial central precocious puberty (CPP). Objective We investigated genetic abnormalities DLK1 gene a French cohort idiopathic CPP. Additionally, we explored the pattern serum levels patients CPP and healthy at puberty, as well wild-type female mice. Patients Methods Genomic DNA was obtained from 121 index cases Automated sequencing...
<h3>Background:</h3> The quality of life patients with rheumatoid arthritis (RA) can be severely impacted by pain, fatigue and impaired physical functioning that vary week-on-week.<sup>1</sup> Filgotinib (FIL) has previously demonstrated early onset improvement in these meaningful patient-reported outcomes (PROs) at the group level.<sup>2,3</sup> However, it is unknown what proportion improved whether improvements are sustained individual level. <h3>Objectives:</h3> To assess patient-level...
Context: Most of the loss-of-function mutations described in children with central precocious puberty (CPP) is located into coding regions MKRN3 or DLK1 genes. Notably, potential abnormalities regulatory these CPP-genes are rarely explored. Objective: To search for pathogenic variants and genes patients familial idiopathic CPP. Methods: A cohort 217 individuals CPP (205 girls 12 boys; 143 sporadic cases 74 cases) was investigated. Rare potentially both were previously excluded. Analyses...
Context: Loss-of-function mutations in Makorin RING-finger 3 (MKRN3), a maternal imprinted gene located on the long arm of chromosome 15, are most prevalent cause familial central precocious puberty (CPP). Objectives: To describe clinical and hormonal features 70 patients with CPP due to MKRN3 establish phenotype-genotype correlation. Setting Participants: We studied individuals from 31 families originating different ethnic backgrounds. DNA sequencing analysis coding region by Sanger method...
Abstract Context: Loss-of-function mutations in the maternally imprinted Makorin RING-finger 3 (MKRN3) gene (15q11.2) are most prevalent cause of familial central precocious puberty (CPP). Objectives: To analyze phenotypes a large cohort children with CPP due to MKRN3 and compare them idiopathic CPP. Setting Participants: We studied 73 individuals from 37 families originating nine different countries. The these patients at initial diagnosis were compared 124 Additionally, expression genes...
Abstract Background: The etiological diagnosis of central precocious puberty (CPP) has been classically divided into causes with or without nervous system (CNS) lesions. Among the cases CNS lesions, most them are classified as idiopathic. In clinical practice, about 90% girls and 40% boys CPP considered having idiopathic form. last two decades, pioneering studies have revealed underlying genetic in patients apparently CPP. Objective: To describe frequency identified a large cohort followed...
Abstract Background: Delta-like 1 homolog (DLK1), also known as pre-adipocyte factor (Pref-1), is part of the Notch signaling pathway that controls many developmental processes. Loss-of-function mutations DLK1 have been identified in children with central precocious puberty (CPP), well women who had menarche (≤ 9 years) an unfavorable metabolic profile. Objective: To investigate genetic and biochemical aspects a cohort CPP. Patients: A large Spanish idiopathic CPP (Spanish PUBERE Registry)...
Abstract Context: The clinical recognition of familial central precocious puberty (CPP) has significantly increased in the last years. This fact can be related to recent descriptions genetic causes associated with this pediatric condition, such as loss-of-function mutations two imprinted genes (MKRN3 and DLK1). Inherited defects both cause paternally inherited CPP. However, no abnormality been described families maternally CPP so far. Objectives: To characterize features several Setting...
Abstract Background Central precocious puberty (CPP) results from early reactivation of the hypothalamic-pituitary-gonadal (HPG) axis. Four monogenic causes CPP have been described (KISS, KISS1R MKRN3 and DLK1). Rare loss-of-function mutations DLK1, a maternally imprinted gene located on chromosome 14q32.2, were identified in families with CPP. Both inherited or de novo DLK1 these affected families. Objective To investigate genetic abnormalities French cohort patients idiopathic Patients:...
Abstract Context: Familial central precocious puberty (CPP) is a prevalent form (about 27.5%) of puberty. Loss-of-function mutations in two maternally imprinted genes, MKRN3 and DLK1, were identified families with CPP showing dominant autosomal inheritance paternal transmission. Maternally transmitted was previously demonstrated up to 60% using pedigree analysis, however, no definitive genetic abnormality has been so far. Objectives To estimate the prevalence familial cases multiethnic...
Background: Reactive Arthritis (ReA) is an inflammatory joint disease and, as in rheumatoid or psoriatic arthritis, composite indices are the most useful tools to measure activity. The Disease Activity Index for (DAREA) only developed index ReA, which requires a 66/68 count and CRP its assessment, latter being difficult acquire our setting. Therefore, we simplified index, modified DAREA (DAREAm), with lower ESR evaluation. Objectives: 1) To evaluate DAREAm cohort of patients diagnosis ReA...