research Hutchinson-gilford progeria syndrome and its relevance to cardiovascular diseases and normal aging.
Research on Hutchinson-Gilford progeria syndrome could help understand normal aging and heart disease.
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600-630 / 1000+ resultsresearch Gender-specific alteration of steroid metabolism and its impact on viral replication in a mouse model of hepatitis B virus infection
Hepatitis B virus alters steroid hormones in male mice, reducing dihydrotestosterone to inhibit viral replication.
research RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research 572 Olfactory Receptor 2A4/7 Activation by the Fragrance, Cyclohexyl Salicylate, Promotes Human Hair Follicle Growth and Stem Cell Progeny Expansion
The fragrance cyclohexyl salicylate helps promote hair growth and increase hair stem cell numbers.
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research BG01 Confirming small nuclear ribonucleoprotein polypeptide E as a cause of nonsyndromic hypotrichosis
The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
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.
research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
research Verrucous hemangioma leg: A challenging birthmark
A boy with a rare birthmark called verrucous hemangioma needed careful timing for surgery due to its size and depth.
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 Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease
The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
research Mutation of the GDP-Fucose Biosynthesis Gene gmds Increases Hair Cell Number and Neuromast Regenerative Capacity in Zebrafish
Mutating the gmds gene in zebrafish increases hair cell numbers and regeneration.
research 7DHC and BM15766 treated mice (C57BL/6; n = 5) failed to regrow the hairs.
The treatments stopped hair regrowth in mice.
research 732 Treatment with cyclohexyl salicylate, an olfactory receptor 2A4/7 agonist, promotes human hair follicle growth and bulge stem cell progeny expansion
Cyclohexyl salicylate promotes human hair growth and increases certain hair follicle stem cell progeny.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research Alterations in the expression of specific epidermal keratin markers in the hairless mouse by the topical application of the tumor promoters 2,3,7,8-tetrachlorodibenzo-p-dioxin and the phorbol ester 12-O-tetradecanoylphorbol-13-acetate
TCDD changes skin cell growth and keratin production in mice.
research 707 Hypoxia induced Multipotent Stem Cell-Secreted Proteins Induce Hair Growth in a Phase 1a/2b trial in Male Pattern Baldness
A trial showed that a new treatment is safe and effective for male pattern baldness, with most participants growing new hair.
research Association of Human Beta – Defensin 1 Gene Polymorphisms with Alopecia Areata Patients
Certain gene variations may increase the risk and severity of alopecia areata.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research An in vivo comparative study of sonic, desert and Indian hedgehog reveals that hedgehog pathway activity regulates epidermal stem cell homeostasis
Proper hedgehog signaling is crucial for maintaining healthy skin stem cells.
research Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research Complete sequence of a hair-like intermediate filament type II keratin gene
KRT2.13 gene is similar to KRT2.9 but not expressed in hair follicles.
research Hyaluronic acid (HA)-based hydrogels for full-thickness wound repairing and skin regeneration
Hyaluronic acid-based HA2 hydrogel helps heal skin wounds better with less scarring.
research Epidermolysis Bullosa Simplex Keratinocytes Show Disturbed Mitochondrial Positioning and Activity
Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
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 Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research A locus on distal chromosome 10 (ahl4) affecting age-related hearing loss in A/J mice
Scientists found a gene in mice that causes early hearing loss.
research 10.1063/5.0132123.1
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.