research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
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research Tight Junction barriers in human hair follicles – role of claudin-1
Claudin-1 is important for the barrier function and growth of hair.
research Double mutation of claudin‐1 and claudin‐3 causes alopecia in infant mice
Mutations in claudin-1 and claudin-3 cause hair loss in baby mice.
research The Inflammatory Caspases-1 and -11 Mediate the Pathogenesis of Dermatitis in Sharpin-Deficient Mice
Certain proteins, caspases-1 and -11, are important in the early development of skin inflammation in mice.
research Epidermis-specific ablation of claudin-1 in adult mice demonstrates the essential role of a tight junction barrier in skin homeostasis
Claudin-1 is crucial for maintaining skin barrier and preventing inflammation.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research Iron-Deficiency Anemia During Childhood
Children need early diagnosis and treatment for iron-deficiency anemia to prevent learning problems and promote health.
research Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency
Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.
research First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases
Thymus transplantation successfully restored immune function in infants with FOXN1 deficiency.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
research Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
research Congenital adrenal hyperplasia
The document concludes that diagnosing and treating Congenital Adrenal Hyperplasia is complex and requires a team approach due to its effects on the skin and other symptoms.
research An Investigation of Keratin 15 Function by Small Interfering Ribonucleic Acid Technology
Keratin 15 affects cell behavior and characteristics in skin cells.
research NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus: A new disease association
NEMO syndrome and systemic lupus erythematosus are linked in a new disease association.
research Keratin intermediate filaments in the colon: guardians of epithelial homeostasis
Keratin proteins are essential for keeping the cells in the human colon healthy and stable.
research Human FOXN1-Deficiency Is Associated with αβ Double-Negative and FoxP3+ T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation
Thymic transplantation normalized some T-cells but not others, maintaining immune function.
research FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches
New treatments for immune disorders caused by FOXN1 deficiency are promising.
research Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: A cross-sectional study
People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
research ALTERAÇÕES FACIAIS DECORRENTES DO TRATAMENTO DA MÁ OCLUSÃO DE CLASSE III, COM DEFICIÊNCIA DE MAXILA, EMPREGANDO DISJUNÇÃO MAXILAR E TRAÇÃO REVERSA
The treatment improved facial structure and corrected bite issues in patients.
research Reduced Levels of Serum 25-Hydroxyvitamin D in Alopecia Areata: A Systematic Review and Meta-analysis
People with alopecia areata often have lower vitamin D levels than healthy people.
research Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature
Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
research Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation
Cathepsin L deficiency causes hair and skin issues in mice.
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 DHT deficiency perturbs the integrity of the rat seminiferous epithelium by disrupting tight and adherens junctions
DHT deficiency can disrupt cell connections in rat testes, possibly affecting fertility.
research 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Estimation of Claudin 3 in the Sreum of Alopecia Areata Patients and Its Association with Disease Severity
Higher Claudin 3 levels in the blood are linked to more severe alopecia areata.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.