research Identification and Characterization of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2
A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.
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research How to Diagnose a Lipodystrophy Syndrome
The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
research A 10 Mb Duplication in Chromosome Band 5q31.3–5q33.1 Associated with Late-Onset Lipodystrophy, Ichthyosis, Epilepsy, and Glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Acanthosis Nigricans and the Metabolic Syndrome
Acanthosis nigricans is a skin condition that may indicate a higher risk for insulin resistance and type 2 diabetes, and more research is needed to understand and treat it.
research Metabolic Dysfunction in Female Mice with Disruption of 5α-Reductase 1
Female mice with disrupted 5α-reductase 1 had significant metabolic issues, including stress response problems, insulin resistance, liver fat buildup, and obesity.
research Integrated Transcriptomics and Metabolomics Analyses of Stress-Induced Murine Hair Follicle Growth Inhibition
Chronic stress in mice changes skin metabolism and gene expression, leading to hair loss.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy Due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First Year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
research Enhancing Diagnostic Yield of Monogenic Diabetes Through Phenotypic and Molecular Reanalysis of 128 Individuals With Young Onset Hyperglycemia: Highlighting the Significance of Accurate Case Characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Syndromes of Severe Insulin Resistance
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
research Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome
The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
research Fibroproliferative Genes Are Preferentially Expressed in Central Centrifugal Cicatricial Alopecia
Genes linked to fibrosis are more active in people with central centrifugal cicatricial alopecia.
research LncRNAs in Secondary Hair Follicle of Cashmere Goat: Identification, Expression, and Their Regulatory Network in Wnt Signaling Pathway
Researchers found that certain RNA molecules might play a role in the growth of Cashmere goat hair.
research Discovery of Genes and Proteins Possibly Regulating Mean Wool Fibre Diameter Using cDNA Microarray and Proteomic Approaches
Researchers identified genes and proteins that may influence wool thickness in sheep.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Rare and Common Genetic Determinants of Metabolic Individuality and Their Effects on Human Health
Genetic variations greatly affect individual metabolism and can impact health and disease risk.
research Molecular Characterization, Expression and Methylation Status Analysis of BMP4 Gene in Skin Tissue of Liaoning Cashmere Goat During Hair Follicle Cycle
BMP4 gene is crucial for hair follicle development in Liaoning cashmere goats.
research The Role of Hormones in Hidradenitis Suppurativa: A Systematic Review
Hormone imbalance is linked to Hidradenitis Suppurativa, a skin condition, and treatments like anti-androgenic therapy and metformin can help. It's also suggested to check patients for insulin resistance and Polycystic Ovary Syndrome.