research Deciphering gene regulatory programs in mouse embryonic skin through single-cell multiomics analysis
HT-scCAT-seq helps understand gene regulation in embryonic skin development.
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research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Editor's evaluation: Complementary evolution of coding and noncoding sequence underlies mammalian hairlessness
Hairlessness in mammals is due to complex genetic changes in both genes and regulatory regions.
research Bamboo Hair Syndrome or Netherton Syndrome - A Case Report
Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
research The importance of basonuclin 2 in adult mice and its relation to basonuclin 1
Basonuclin 2 is vital for the development of facial bones, hair follicles, and male germ cells in adult mice, and its absence can lead to dwarfism and abnormal follicles.
research Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research A New Application in Dermatological Ultrasound
The document concludes that the acoustic coupler SF-001 is good for skin ultrasound, especially on rough body parts, because it's stable and shows blood vessels well.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Novel compound heterozygous mutations in thedesmoplakingene cause hair shaft abnormalities and culminate in lethal cardiomyopathy
Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
research Niosomes: A Novel Targeted Drug Delivery System
Niosomes are a promising method for delivering drugs directly to targeted areas in the body.
research Alopecia Totalis/Universalis
Alopecia totalis/universalis is a severe form of hair loss where all body hair is lost.
research Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil
Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
research Novel Type I Hair Keratins K39 and K40 Are the Last to be Expressed in Differentiation of the Hair: Completion of the Human Hair Keratin Catalog
K39 and K40 are the last keratins expressed in hair development, completing the hair keratin catalog.
research Topological Markers for Subcellular Chemical Mapping using TOF-SIMS
TOF-SIMS improved chemical mapping in cells, confirming gunshot residue, tracking anti-tumor drugs, and identifying molecules in mosquitoes and wounds.
research Inhibitory Effects of Ethionine, an Analogue of Methionine, on Wool Growth
Ethionine significantly inhibits wool growth in sheep but not hair growth in mice or rats.
research Loss of a homologous group of proteins in a dominantly inherited ectodermal malformation
Naked-mouse hair lacks certain proteins and has less soluble fibril.
research Expression patterns of three estrogen receptor genes during zebrafish (Danio rerio) development: evidence for high expression in neuromasts
The three estrogen receptor genes are highly expressed in zebrafish neuromasts during development.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research Ανάπτυξη καινοτόμων πεπτιδικών φορέων με ιδιότητες αυτοσυναρμογής για τοπική χορήγηση φαρμάκων
Self-assembling peptide hydrogels effectively deliver drugs locally, enhancing treatment and reducing side effects.
research Scanning electron microscopic features of the ovine interdigital sinus
The ovine interdigital sinus has a complex structure with three layers and various skin-like features.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
A specific gene mutation causes complete hair loss in an Irish Traveller family.
research Non-invasive human skin transcriptome analysis using mRNA in skin surface lipids
The conclusion is that analyzing RNA from skin oils is a promising way to understand skin diseases.
research A Consensus Single-cell Atlas Of Hidradenitis Suppurativa Tunnels Defines A Fibro-inflammatory Niche With Druggable Microenvironmental Endotypes
Hidradenitis suppurativa tunnels have different microenvironments, suggesting targeted treatments could be more effective.
research Reciprocal effects suggest maternal and extranuclear influences on fruit traits in winter squash breeding
Maternal and extranuclear factors affect fruit traits in winter squash.
research Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD)
C-scores can help predict gain-of-function and loss-of-function mutations.
research Sequence Variation in Caprine KRTAP6-2 Affects Cashmere Fiber Diameter
Different versions of the KRTAP6-2 gene in goats can lead to thinner cashmere fibers.