research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
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270-300 / 1000+ resultsresearch 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 Efficient In Vitro Transfection of Human Keratinocytes with an Adenovirus-Enhanced Receptor-Mediated System
The AVET system effectively delivers genes to human keratinocytes and may help treat skin diseases.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research Identification of a preferred substrate peptide for transglutaminase 3 and detection of in situ activity in skin and hair follicles
The study found a specific peptide that helps detect TGase 3 activity in skin and hair follicles.
research The effects of transfection of human VEGF165 gene with electroporatic technique into bleomycin-induced sclerotic skin in mice
The technique successfully promoted hair growth and skin renewal in mice.
research Cell Proteomic Footprinting: Advances in the Quality of Cellular and Cell-Derived Cancer Vaccines
Cell proteomic footprinting enhances cancer vaccine quality by ensuring correct antigen composition.
research Pvalb8, a Type of Oncomodulin, Regulates Neuromast Development and Auditory Function in Zebrafish
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
research MHC Class I-Like MILL Molecules Are β2-Microglobulin-Associated, GPI-Anchored Glycoproteins That Do Not Require TAP for Cell Surface Expression
MILL molecules are unique immune proteins in mice that don't need TAP to appear on cell surfaces.
research Crosstalk between vimentin and keratins in viral infection: Implications across the viral life cycle
Vimentin and keratin help viruses spread and could be targets for antiviral treatments.
research Functional redundancy of Frizzled 3 and Frizzled 6 in planar cell polarity control of mouse hair follicles
Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.
research Efficacy of Glycyrrhetinic Acid in the Treatment of Acne Vulgaris Based on Network Pharmacology and Experimental Validation
Glycyrrhetinic acid from licorice may help treat acne by reducing inflammation and oil production.
research Expression of Signaling Components in Embryonic Eyelid Epithelium
Eyelid cells share signaling components but differ in pathway activity.
research Whole-transcriptome analysis reveals the profiles and roles of coding and non-coding RNAs during hair follicle cycling in Rex rabbits
Key genes and RNA networks regulate hair growth and follicle density in Rex rabbits.
research miR-29a-5p Inhibits Prenatal Hair Placode Formation Through Targeting EDAR by ceRNA Regulatory Network
miR-29a-5p prevents the formation of early hair structures by targeting a gene important for hair growth and is regulated by a complex network involving lncRNA627.1.
research Generalized atrophic benign epidermolysis bullosa.
GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
research Independent genomewide screens identify the tumor suppressor VTRNA2-1 as a human epiallele responsive to periconceptional environment
The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
research An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research Conserved γδ T cell selection by BTNL proteins limits progression of human inflammatory bowel disease
BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.
research Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
A point mutation in the androgen receptor gene causes complete androgen insensitivity.
research The Identity of Flavin with the Cataract-Preventive Factor
Flavin prevents cataracts in young rats.
research rPanglaoDB: an R package to download and merge labeled single-cell RNA-seq data from the PanglaoDB database
rPanglaoDB helps study rare cell types by merging RNA data, confirming fibrocytes' role in healing.
research New aspects of galectin functionality in nuclei of cultured bone marrow stromal and epidermal cells: biotinylated galectins as tool to detect specific binding sites
Galectin-1 helps in RNA processing in cell nuclei.
research Nestin‐expressing interfollicular blood vessel network contributes to skin transplant survival and wound healing
Nestin-expressing blood vessels help skin transplants survive and heal.
research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
research Production of a 135-residue long N-truncated human keratinocyte growth factor 1 in Escherichia coli
KGF-1 135 is a stable and effective alternative for treating oral mucositis.
research [Experimental study on vascular endothelial growth factor 165 gene-modified rat hair follicle stem cells mediated by lentiviral vector].
Modified rat hair follicle stem cells can help create artificial hair follicles, blood vessels, and skin.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.