research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
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600-630 / 1000+ results research Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
research PSAT217 Estrogen Deficiency as a Cause of Decreased 1- alpha - hydroxylase Activity
Estrogen deficiency can reduce the enzyme activity needed to activate vitamin D.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research A reasonable Response to Diphensiprone in Pediatric Alopecia Patient: A Case Report
Topical diphencyprone effectively treated a 9-year-old boy's alopecia areata with fewer side effects.
research Localized Primary Cutaneous Nodular Amyloidosis in a Patient With Paraproteinemia
An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research PSEUDOPELADE: AN INHERITED ALOPECIA
Pseudopelade is a rare inherited hair loss condition with a genetic cause.
research Nonclassic Congenital Adrenal Hyperplasia: An Overview
Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
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 Serum Metabolomics Study of Polycystic Ovary Syndrome Based on Liquid Chromatography–Mass Spectrometry
Women with PCOS have different levels of certain fats and proteins in their blood, which could help diagnose the condition.
research Optimization of the method for the culture of melanocyte precursors from hair follicles and their activation by 1,25-dihydroxyvitamin D3
1,25-dihydroxyvitamin D3 helps melanocyte precursors from hair follicles grow and produce melanin, aiding vitiligo treatment understanding.
research Investigation of Some Amino Acid Analogues and Metabolites as Inhibitors of Wool and Hair Growth
Certain amino acid analogues can inhibit wool and hair growth and affect fiber strength.
research A Keratin Fiber Sheath
Hair fibers may have a unique, non-protein sheath not previously identified.
research Intractable Diffuse Alopecia Caused by Multifactorial Side-Effects in Treatment of Acute Lymphocytic Leukemia: Connection to Iatrogenic Failure of Estrogen Secretion
The patient's long-term hair loss was caused by leukemia treatments and low estrogen levels, worsened by her genetic tendency for hair loss.
research The abnormal skin structure of newly born Wistar rat maternally-treated with aspartame: histological and immunohistochemical study
Maternal aspartame consumption during pregnancy leads to skin damage and higher apoptosis in newborn rat offspring.
research Patent Reports
New patents include innovations in skin and hair care, disease treatment, plant stress tolerance, and protein purification.
research Promotion of Hair Growth by Applying Sulfur Amino Acids and Other Things to the Skin
Applying L-methionine and L-serine to the skin promotes the most hair growth.
research Diffuse hair loss in Addison disease: A reason for X-linked adrenoleukodystrophy screening
Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.
research A forgotten and hidden disease
The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
research Lipoatrophy and severe metabolic disturbance in mice with fat-specific deletion of PPARγ
Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.
research Inborn Errors of Biotin Metabolism
Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report
A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
research Spinal and bulbar muscular atrophy: pathogenesis and clinical management
Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
research Exploring the potential effect and mechanisms of protocatechuic acid on human hair follicle melanocytes
Protocatechuic acid can reduce melanin production and boost antioxidant activity in hair follicles.
research Diphenylcyclopropenone in severe alopecia areata in children and adolescents: long-term follow-up and relapse rate
Diphenylcyclopropenone is effective and safe for treating severe alopecia areata in children, with maintenance therapy reducing relapse risk.
research Generation of an intestinal‐specific hephaestin knockout mouse
Knockout mice showed anemia and hair loss, suggesting other ways exist for iron absorption.
research Pili annulati with fragility: Electron microscopic findings of a case
The study found that hair fragility in Pili annulati may be caused by cavities and damage within the hair shafts.