research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
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300-330 / 1000+ results research Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
research Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency
A special diet can fix hair problems in argininosuccinase deficiency.
research No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research Œdème angioneurotique sans anomalie de l’inhibiteur de la C1 estérase : efficacité de l’acide tranexamique
Tranexamic acid effectively reduced swelling episodes in a girl with a rare form of hereditary angioneurotic edema.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Telitacicept for systemic lupus erythematosus with post‑surgical papillary thyroid carcinoma: A case report
Telitacicept helped stabilize complement levels in a patient with lupus and thyroid cancer.
research Synaptic processes and immune-related pathways implicated in Tourette Syndrome
The study found that Tourette Syndrome may be linked to certain immune system processes and synaptic signaling.
research Purification and characterization of rat liver minoxidil sulphotransferase
Enzyme purified and characterized for minoxidil sulphation in rat liver.
research Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
research PSAT330 Excess Iodine Intake From a Cystic Fibrosis Supplement Induces Symptomatic Hypothyroidism
Excessive iodine from a cystic fibrosis supplement can cause hypothyroidism.
research Giant Axonal Degeneration: Scanning Electron Microscopic and Biochemical Study of Scalp Hair
The patient's hair had unique damage and a lower sulfur-to-nitrogen ratio compared to relatives, but not compared to healthy controls.
research [The value of selenotherapy in patients with mucoviscidosis].
Selenium therapy improved health in cystic fibrosis patients with fewer side effects at a lower dose.
research THE FREQUENCY OF VISCERAL AND PHENOTYPIC MARKERS IN PATIENTS WITH THE COMBINATION OF UNDIFFERENTIATED CONNECTIVE TISSUE DISEASE AND GASTROESOPHAGEAL REFLUX DISEASE
Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Acrodermatitis Enteropathica: A Case Report Involving a Delayed Diagnosis
Early diagnosis and lifelong zinc supplementation are crucial for treating acrodermatitis enteropathica effectively.
research Studies of E2s Related to Unconventional Ubiquitination in Arabidopsis thaliana
UBC13 and UBC22 enzymes are important for plant growth and development in Arabidopsis thaliana.
research 0749 Serine and arginine-rich splicing factor 3 regulates epidermal differentiation in cutaneous squamous cell carcinoma
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research [Low dosage retinol and L-cystine combination improve alopecia of the diffuse type following long-term oral administration].
Retinol and L-cystine improve diffuse hair loss without side effects.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research A Case of Trichothiodystrophy with a Low Sulfur Level in the Hair Shafts
research Glutamic acid promotes hair growth in mice
Glutamic acid helps mice grow hair.
research Cystitis Due to Cytoxan: Case Report
A woman developed severe bladder inflammation after cancer treatment with Cytoxan.
research 307 Dermatologic toxicities associated with chronic gamma-secretase inhibitor treatment for desmoid tumor
Most patients experienced mild to moderate skin problems during a trial for a desmoid tumor treatment.
research The Enzymic Derivation of Citrulline Residues from Arginine Residues In Situ during the Biosynthesis of Hair Proteins that are Cross-Linked by Isopeptide Bonds
Hair follicles have an enzyme that converts arginine to citrulline in proteins.
research Vitiligo-like depigmentation with perifollicular pigment retention in systemic sclerosis treated successfully with suplatast tosilate
Suplatast tosilate successfully treated a woman's systemic sclerosis symptoms.
research Trichothiodystrophy Associated with Urologic Malformation and Primary Hypercalduria
Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
research A Connection between the Mitochondrial Permeability Transition Pore, Autophagy, and Cerebral Amyloidogenesis
Dutasteride may help reduce brain plaque linked to Alzheimer's by affecting cell energy structures and waste removal.