A5060228995- Nuclear Structure and Function
- Metabolism, Diabetes, and Cancer
- RNA Research and Splicing
- RNA modifications and cancer
- RNA and protein synthesis mechanisms
- Diabetes and associated disorders
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Diet, Metabolism, and Disease
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- Nutrition, Genetics, and Disease
- Genetic Syndromes and Imprinting
- Growth Hormone and Insulin-like Growth Factors
- Mitochondrial Function and Pathology
- Liver Disease Diagnosis and Treatment
- Diet and metabolism studies
- Adipose Tissue and Metabolism
Sağlık Bilimleri Üniversitesi
2025
Istanbul University
2025
Eunice Kennedy Shriver National Institute of Child Health and Human Development
2019-2022
National Institutes of Health
2019-2022
Health and Human Development (2HD) Research Network
2020
National Network of Public Health Institutes
2020
BACKGROUND. Postreceptor insulin resistance (IR) is associated with hyperglycemia and hepatic steatosis. However, receptor-level IR (e.g., receptor pathogenic variants, INSR) causes without We examined 4 pathologic conditions of in humans to examine pathways controlling lipid metabolism gluconeogenesis.
Abstract Context Lipodystrophy syndromes are rare disorders characterized by deficient adipose tissue, leading to insulin resistance, dyslipidemia, and organ system abnormalities. Objective Our goal was develop a lipodystrophy severity score (LDS) holistically capture the diverse manifestations of into numerical aid in prediction clinical outcomes and/or treatment impact. Design An 8-domain LDS developed eight disease experts consultation with patient organizations. The rated for feasibility...
Abstract Context Despite several reports of familial partial lipodystrophy (FPLD) type 2 (FPLD2) due to heterozygous LMNA variants and FPLD3 PPARG variants, the phenotypic differences among them remain unclear. Objective To compare body fat distribution, metabolic parameters, prevalence complications between FPLD2. Methods A retrospective, cross-sectional comparison patients from tertiary referral centers—UT Southwestern Medical Center National Institute Diabetes Digestive Kidney Diseases....
ContextFamilial partial lipodystrophy (FPLD) is most commonly caused by pathogenic variants in LMNA and PPARG. Leptin replacement with metreleptin has largely been studied the group.
Abstract Context Familial partial lipodystrophy, Dunnigan variety (FPLD2) is a rare autosomal dominant disorder resulting from LMNA causal variants, which characterized by loss of subcutaneous fat the extremities and predisposition to metabolic complications. The diagnostic value various anthropometric measurements for FPLD2 remains unknown. Objective To determine specificity sensitivity diagnosis FPLD2. Methods We measured skinfold thickness regional body dual energy X-ray absorptiometry...
Abstract Context Loss-of-function mutations in the imprinted genes MKRN3 and DLK1 cause central precocious puberty (CPP) but whole gene deletions have not been reported. Larger of chromosome 15q11-13 locus, including MKRN3, Prader-Willi syndrome (PWS). CPP has reported PWS is common, role fully elucidated. Objective To identify copy number variants puberty-related, to determine their CPP. Methods Probands with idiopathic had chromosomal microarray (CMA) targeted deletion/duplication testing...
Patients with mutations of the insulin receptor gene (INSR) have extreme resistance and are at risk for early morbidity mortality from diabetes complications. A case report suggested that thyroid hormone could improve glycemia in INSR mutation part by increasing brown adipose tissue (BAT) activity volume.To determine if increases glucose uptake improves hyperglycemia mutation.Single-arm, open-label study liothyronine.National Institutes Health.Patients homozygous (n = 5) or heterozygous 2)...
Idiopathic ketotic hypoglycemia (KH) is the most common cause of in non-diabetic children ages 0.5-6 years old and typically occurs after a period poor food intake. There are no large studies looking at value laboratory testing presenting with KH or how often other diagnoses made.To examine clinical presentations done cohort clinically diagnosed KH.Billing records were searched from 2008 to 2017 for patients seen by endocrine service "hypoglycemia, not otherwise specified". Charts reviewed...
Abstract Familial partial lipodystrophy (FPLD), a rare autosomal dominant disorder, is characterized by marked loss of subcutaneous (sc) fat from the extremities, and predisposition to insulin resistance, diabetes mellitus, dyslipidemia hepatic steatosis. FPLD2 FPLD3 due causal variants in LMNA PPARG, respectively, are two most common subtypes. Due extremely prevalence limited reports literature, whether there phenotypic differences between subtypes remain unclear. Therefore, we compared...
Type 2 diabetes is characterized by increased hepatic glucose production and selective insulin resistance that occurs downstream of the receptor. However, differential pathways exact molecules implicated in signaling are unclear. To elucidate mechanistic affected versus non-selective resistance, we compared basal rates its components, gluconeogenesis glycogenolysis, patients with severe (insulin receptor mutations (INSR)) to (lipodystrophy type diabetes). In 7 INSR, 14 lipodystrophy 9...