research Type A Insulin Resistance Syndrome Due to a Novel Heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR Gene Mutation in an Adolescent Girl and Her Mother
A new gene mutation causes insulin resistance in a girl and her mother.
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research Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome
People with Down syndrome have higher rates of certain immune-related conditions and need special medical attention.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research A Case of Red Lunulae After Hematopoietic Stem Cell Transplantation
Adjusting the medication tacrolimus resolved a boy's red nail beds after a stem cell transplant.
research Seasonality, Climatic Unpredictability, Food Deprivation, and Polycystic Ovary Syndrome
PCOS may have evolved as an advantage in past environments with food scarcity.
research Vitamin D and Human Health: Lessons from Vitamin D Receptor Null Mice
Mice without the vitamin D receptor have bone issues and other health problems, suggesting vitamin D is important for preventing various diseases in humans.
research The Nuclear Vitamin D Receptor: Biological and Molecular Regulatory Properties Revealed
The vitamin D receptor is crucial for bone health and affects various body systems, with mutations potentially leading to disease.
research Regulation of Somatic Cell Reprogramming Through Inducible miR-302 Expression
Increasing mir-302 turns human hair cells into stem cells by changing gene regulation and demethylation.
research 5α-Reductase Activity in the Prostate
Blocking the enzyme 5α-reductase can shrink the prostate and help treat enlarged prostate issues.
research Kinase Inhibition with BAY 43-9006 in Renal Cell Carcinoma
BAY 43-9006 helps control kidney cancer growth but doesn't significantly increase overall survival.
research Roles of Msx and Dlx Homeoproteins in Vertebrate Development
Msx and Dlx genes are crucial for development, controlling cell behaviors like growth and differentiation through their roles as gene regulators.
research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis
Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
research Androgenetic Alopecia: A Review
Male pattern baldness involves genetics, hormones, and needs better treatments.
research An Update on Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research Cutaneous Lupus Erythematosus: A Review
Patients with certain skin symptoms and high ANA titers should be monitored for potential systemic lupus.
research K ATP Channels and Cardiovascular Disease
K_ATP channel gene mutations are linked to heart diseases, but more research is needed to understand the connection and treatment potential.
research MicroRNA-302 Increases Reprogramming Efficiency via Repression of NR2F2
MicroRNA-302 helps improve the conversion of body cells into stem cells by blocking NR2F2.
research Keratin Disorders: From Gene to Therapy
New treatments targeting specific genes show promise for treating keratin disorders.
research Interferon in the Treatment of Cutaneous T-Cell Lymphoma
Interferon, especially alfa interferon, is an effective treatment for cutaneous T-cell lymphoma with manageable side effects.
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 5α-Reductase Isozymes and Androgen Actions in the Prostate
5α‐reductase isozymes are crucial for prostate development and health, and targeting them can help prevent and treat prostate issues.
research Polymorphisms of the Androgen Receptor Gene and the Estrogen Receptor Beta Gene Are Associated with Androgen Levels in Women
Certain genetic variations in the AR and ERβ genes can affect androgen levels in women.
research Congenital Adrenal Hyperplasia: A Comprehensive Review
The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
research Hormonal Contraceptives: Pharmacology Tailored to Women's Health
New hormonal contraceptives are safer, have fewer side effects, and offer health benefits for women.
research Role of Cholesterol Sulfate in Epidermal Structure and Function: Lessons from X-Linked Ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
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.
research 2,3,7,8-Tetrachlorodibenzo-p-dioxin Increases the Expression of Genes in the Human Epidermal Differentiation Complex and Accelerates Epidermal Barrier Formation
TCDD speeds up skin barrier formation by increasing certain gene expressions.
research The E211 G>A Androgen Receptor Polymorphism Is Associated With a Decreased Risk of Metastatic Prostate Cancer and Androgenetic Alopecia
E211 G>A gene linked to lower risk of severe prostate cancer and hair loss.
research Wnt Signaling in Skin Organogenesis
Wnt signaling is crucial for skin and hair development and its disruption can cause skin tumors.
research Alopecia Areata: Evidence-Based Treatments
Alopecia areata can cause unpredictable hair loss, and treatments like corticosteroids and minoxidil may help but have varying side effects.