research Electron microscopic and autoradiographic study of S35-L-cystine incorporation in mouse hair follicles
Mice hair follicles take in the amino acid cystine.
Search
for
Sort by
Research
240-270 / 1000+ results 
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 Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research The L412F variant of Toll-like receptor 3 (TLR3) is associated with cutaneous candidiasis, increased susceptibility to cytomegalovirus, and autoimmunity
The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
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 Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
LIPH mutations cause woolly hair in some Chinese people.
research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
research Medicinal Uses of L-Lysine: Past and Future
L-Lysine may help with various health conditions, but results are inconsistent for herpes treatment and its potential in other therapies is still being explored.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research Scraggly, a new hair loss mutation on mouse Chromosome 19
The scraggly mutation causes hair loss and skin defects in mice.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research The effect of dietary modulation of sulfur amino acids on cystathionine β synthase–deficient mice
Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene
A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
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 Gsdma3 Mutation Causes Bulge Stem Cell Depletion and Alopecia Mediated by Skin Inflammation
A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
research Metabolic disease with autoimmune phenomena: 2 cases of SLE-like disease in young children diagnosed with lysinuric protein intolerance
Two children with lysinuric protein intolerance showed symptoms similar to lupus.
research Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
A gene variant causes a skin and hair disorder by disrupting protein balance.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Molecular studies of Hutchinson-Gilford progeria syndrome
Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
research Impaired turnover of autophagolysosomes in cathepsin L deficiency
Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.
research 478 Mutation-specific siRNA Knockdown of GJB2 − Potential gene therapy for Keratitis-ichthyosis-deafness Syndrome
Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
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 The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research Human Epidermal Transglutaminase
The enzyme is crucial for skin cell development and can be activated without proteolytic activation.