research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
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330-360 / 1000+ resultsresearch Hair Shaft Videodermoscopy in Netherton Syndrome
Trichoscopy can diagnose Netherton syndrome without pulling hairs.
research Patterns of expression of trichocytic and epithelial cytokeratins in mammalian tissues II. Concomitant and mutually exclusive synthesis of trichocytic and epithelial cytokeratins in diverse human and bovine tissues (hair follicle, nail bed and matrix, lingual papilla, thymic reticulum)
Trichocytic cytokeratins are found in hair, nails, tongue, and thymus cells, showing complex regulation in tissue development.
research 19 Adipose stem cell exosome (ASCE): next generation regenerative therapeutics for atopic dermatitis
research 0952 Spatial transcriptomics reveal compartmentalized dysregulation of lipid metabolism in acne vulgaris
Acne involves increased lipid production and inflammation, affecting skin cell behavior and treatment resistance.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations.
A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
research Computer Based Screening of Selected Phytoconstituents from Cyperus Rotundus Linn. Against 5 α Reductase Enzyme
Phytoconstituents from Cyperus Rotundus may help treat hirsutism by interacting with the 5 α reductase enzyme.
research 517 Regulation of the lipidome and lipid metabolism in prematurely senescent human dermal fibroblasts
Aging skin cells change their lipid profiles due to stress, affecting skin health.
research Molecular and physiological mechanisms underlying the antifungal and nutrient acquisition activities of beneficial microbes
Certain beneficial microbes can fight fungi and help plants get nutrients.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research Acquired Hypertrichosis Lanuginosa: A Rare Cutaneous Paraneoplastic Syndrome
research DIFFERENT HORMONAL PATTERNS IN PREP'UBERTAL HYPERTRICHOSIS
research Targeted gene delivery to skin cells in vivo: A comparative study of liposomes and polymers as delivery vehicles
Nonionic liposomes are the best for delivering genes to skin cells.
research Monilethrix
Monilethrix has no effective treatment, but avoiding hair trauma helps manage it.
research Sulphation catalysed by the human cytosolic sulphotransferases - chemical defence or molecular terrorism?
Human enzymes can detoxify harmful substances but might also increase their cancer risk.
research Skin transcriptome reveals the periodic changes in genes underlying cashmere (ground hair) follicle transition in cashmere goats
The study identified key genes that regulate the growth cycle of cashmere in goats, which could help improve breeding strategies.
research Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases
Some scalp sores are linked to different inherited skin conditions.
research Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research Ulerythema ophryogenes with multiple congenital anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
research MULTIPLE DEFECTS OF THE HAIR SHAFT IN NETHERTON'S DISEASE.
Netherton's disease causes multiple hair defects.
research Epidermal and hair follicle transglutaminases and crosslinking in skin
research Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research Genomic Characterization of the Human Type I Cuticular Hair Keratin hHa2 and Identification of an Adjacent Novel Type I Hair Keratin Gene hHa5
research Improvement of Antioxidant Defences in Keratinocytes Grown in Physioxia: Comparison of 2D and 3D Models
Physioxia improves keratinocyte protection against oxidative stress and better mimics real skin conditions.
research The Localization of Dehydrogenase Activity and Sulphydryl Groups in Wool and Hair Follicles by the use of Tetrazolium Salts
INT effectively shows enzyme activity and protein groups in wool and hair follicles.
research Granulomatous skin involvement in a patient with an unusual NOD2 mutation
A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
research Netherton's Syndrome.
A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
research Seborrhoeic Dermatitis in Pigmy Goats
Pygmy goats with seborrhoeic dermatitis showed skin symptoms and temporary improvement with corticosteroids, but the cause and inheritance of the disease remain unknown.