Search Results - "BYRNE, Maria M"
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The clinical management of hyperglycemia in pregnancy complicated by maturity-onset diabetes of the young
Published in American journal of obstetrics and gynecology (01-08-2015)“…Objective Women with maturity-onset diabetes of the young (MODY) are often first identified and diagnosed with diabetes during pregnancy. Genetics and…”
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Case report: Glycaemic management and pregnancy outcomes in a woman with an insulin receptor mutation, p.Met1180Lys
Published in Clinical diabetes and endocrinology (10-03-2024)“…Heterozygous insulin receptor mutations (INSR) are associated with insulin resistance, hyperglycaemia and hyperinsulinaemic hypoglycaemia in addition to…”
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Metastatic medullary thyroid carcinoma presenting as ectopic Cushing’s syndrome
Published in Endocrinology, diabetes & metabolism case reports (01-04-2021)“…Summary A 41-year-old male presented to the Emergency Department with a 6-month history of back and hip pain. Skeletal survey revealed bilateral pubic rami…”
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An evolving spectrum of diabetes in a woman with GCK-MODY
Published in Endocrinology, diabetes & metabolism case reports (03-01-2019)“…Summary Coexistence of autoimmune diabetes and maturity-onset diabetes of the young (MODY) is rare. We report the first case of coexisting latent autoimmune…”
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Primary hyperparathyroidism in a patient with familial hypocalciuric hypercalcaemia due to a novel mutation in the calcium-sensing receptor gene
Published in Journal of bone and mineral metabolism (01-07-2013)“…We describe the clinical and genetic findings in pedigree with a novel mutation in the calcium sensing receptor (CaSR) gene and the unusual coexistence of…”
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Circulating CD36 is reduced in HNF1A-MODY carriers
Published in PloS one (12-09-2013)“…Premature atherosclerosis is a significant cause of morbidity and mortality in type 2 diabetes mellitus. Maturity onset diabetes of the young (MODY) accounts…”
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Successful Use of a GLP-1 Receptor Agonist as Add-on Therapy to Glibenclamide in a Young Adult With KCNJ11 Permanent Neonatal Diabetes
Published in Diabetes care (15-10-2024)Get full text
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Serum levels of pancreatic stone protein (PSP)/reg1A as an indicator of beta-cell apoptosis suggest an increased apoptosis rate in hepatocyte nuclear factor 1 alpha (HNF1A-MODY) carriers from the third decade of life onward
Published in BMC endocrine disorders (18-07-2012)“…Mutations in the transcription factor hepatocyte nuclear factor-1-alpha (HNF1A) result in the commonest type of maturity onset diabetes of the young (MODY)…”
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Effects of hepatocyte nuclear factor-1A and -4A on pancreatic stone protein/regenerating protein and C-reactive protein gene expression: implications for maturity-onset diabetes of the young
Published in Journal of translational medicine (26-06-2013)“…There is a significant clinical overlap between patients with hepatocyte nuclear factor (HNF)-1A and HNF4A maturity-onset diabetes of the young (MODY), two…”
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Circulating miR-330-3p in Late Pregnancy is Associated with Pregnancy Outcomes Among Lean Women with GDM
Published in Scientific reports (22-01-2020)“…Gestational Diabetes Mellitus (GDM) is characterised by insulin resistance accompanied by reduced beta-cell compensation to increased insulin demand, typically…”
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Evaluation of pregnancy outcomes in women with GCK‐MODY
Published in Diabetic medicine (01-06-2021)“…Aims To determine the fetal and maternal outcomes in pregnant women with Glucokinase‐Maturity onset diabetes of the young (GCK‐MODY). Methods We studied the…”
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Acute presentation of a giant intrathyroidal parathyroid adenoma: a case report
Published in Journal of medical case reports (19-10-2016)“…We report the case of a giant intrathyroidal parathyroid adenoma weighing 59 g in a young woman presenting acutely with severe hypercalcemia requiring…”
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MicroRNA-224 is Readily Detectable in Urine of Individuals with Diabetes Mellitus and is a Potential Indicator of Beta-Cell Demise
Published in Genes (23-06-2015)“…MicroRNA (miRNA) are a class of non-coding, 19-25 nucleotide RNA critical for network-level regulation of gene expression. miRNA serve as paracrine signaling…”
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AMP-activated Protein Kinase Mediates Apoptosis in Response to Bioenergetic Stress through Activation of the Pro-apoptotic Bcl-2 Homology Domain-3-only Protein BMF
Published in The Journal of biological chemistry (12-11-2010)“…Heterozygous loss-of-function mutations in the hepatocyte nuclear factor 1A (HNF1A) gene result in the pathogenesis of maturity-onset diabetes-of-the-young…”
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Sleepiness, performance, and neuroendocrine function during sleep deprivation: effects of exposure to bright light or exercise
Published in Journal of biological rhythms (01-06-1997)“…The temporal profiles of subjective fatigue (as assessed by the Stanford Sleepiness Scale), of cognitive performance (on a digit symbol substitution test and a…”
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INS-1 Cells Undergoing Caspase-Dependent Apoptosis Enhance the Regenerative Capacity of Neighboring Cells
Published in Diabetes (New York, N.Y.) (01-11-2010)“…In diabetes, β-cell mass is not static but in a constant process of cell death and renewal. Inactivating mutations in transcription factor 1 (tcf-1)/hepatocyte…”
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Bone Morphogenetic Protein 3 Controls Insulin Gene Expression and Is Down-regulated in INS-1 Cells Inducibly Expressing a Hepatocyte Nuclear Factor 1A–Maturity-onset Diabetes of the Young Mutation
Published in The Journal of biological chemistry (22-07-2011)“…Inactivating mutations in the transcription factor hepatocyte nuclear factor (HNF) 1A cause HNF1A–maturity-onset diabetes of the young (HNF1A-MODY), the most…”
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Rapamycin protects against dominant negative-HNF1A-induced apoptosis in INS-1 cells
Published in Apoptosis (London) (01-11-2011)“…HNF1A-maturity onset diabetes of the young (HNF1A-MODY) is caused by mutations in Hnf1a gene encoding the transcription factor hepatocyte nuclear factor 1alpha…”
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Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12
Published in Diabetes (New York, N.Y.) (01-11-1996)“…One form of maturity-onset diabetes of the young (MODY) results from mutations in a gene, designated MODY3, located on chromosome 12 in band q24. The present…”
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