research Atypical Progeroid Syndrome Due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
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research Characterization of the Serotoninergic System in the C57BL/6 Mouse Skin
Mouse skin can produce and process serotonin, with variations depending on hair cycle, body location, and mouse strain.
research Inherited Ichthyoses: Generalized Mendelian Disorders of Cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Ectodysplasin Research: Where to Next?
Future research on ectodysplasin should explore its role in diseases, stem cells, and evolution, and continue developing treatments for genetic disorders like hypohidrotic ectodermal dysplasia.
research Skin Manifestations Associated with Autoimmune Liver Diseases: A Systematic Review
Autoimmune liver diseases are likely linked to certain skin conditions like vitiligo and psoriasis.
research Androgen Receptor Mutations and Polymorphisms in African American Prostate Cancer
African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research The Genetics of Alopecia Areata
Alopecia areata has a complex genetic basis that was not fully understood as of 2001.
research The Possible Implication of the S250C Variant of the Autoimmune Regulator Protein in a Patient with Autoimmunity and Immunodeficiency: In Silico Analysis Suggests a Molecular Pathogenic Mechanism for the Variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Lack of cystatin M/E causes thin hair and dry skin.
research Association of Autoimmune Regulator Gene Rs2075876 Variant, but Not Gene Expression, with Alopecia Areata in Males: A Case-Control Study
The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
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.
research Interaction Between Estrogens and Androgen Receptor Genes Microsatellites, Prostate-Specific Antigen, and Androgen Receptor Expressions in Breast Cancer
Certain gene patterns in breast cancer are linked to how active hormone receptors are and could affect patient survival.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
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 Abstracts of 42nd National Conference of Association of Clinical Biochemists of India (ACBICON 2015)
The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Improving Human Forensics Through Advances in Genetics, Genomics, and Molecular Biology
DNA profiling in forensics has improved, but predicting physical traits and ancestry from DNA has limitations and requires ethical consideration.
research Melatonin in the Skin: Synthesis, Metabolism, and Functions
Melatonin in the skin helps protect against damage from stress and UV rays, and could be used to treat certain skin conditions.
research The 5 Alpha-Reductase Isozyme Family: A Review of Basic Biology and Their Role in Human Diseases
The document concludes that the 5 alpha-reductase enzymes are important in steroid metabolism and related to various human diseases, with inhibitors used to treat conditions like male pattern baldness and prostate issues.
research Congenital Adrenal Hyperplasia: Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research WNT Signaling in Disease
The WNT signaling pathway is important in many diseases and targeting it could offer new treatments.
research Stretching the Limits: From Homeostasis to Stem Cell Plasticity in Wound Healing and Cancer
Stem cell plasticity is crucial for wound healing but can also contribute to cancer development.
research Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Revisited: An Update with a Special Focus on Adolescent and Adult Women
The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
research Keratin Disorders: From Gene to Therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Melatonin and the Hair Follicle
Melatonin helps regulate hair growth and protects the hair follicle from stress.
research Quantitative Single-Cell Approaches to Stem Cell Research
New single-cell analysis techniques are improving our understanding of stem cells and could help in treating diseases.
research A PAX1 Enhancer Locus Is Associated With Susceptibility to Idiopathic Scoliosis in Females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
research Biology and Genetics of Hair
The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
research Role of Genetics and Sex Steroid Hormones in Male Androgenetic Alopecia and Female Pattern Hair Loss: An Update
Genetics and hormones play a role in male and female hair loss, but more research is needed to fully understand it.