research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
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90-120 / 1000+ resultsresearch 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
research Disruption of anthrax toxin receptor 1 in pigs leads to a rare disease phenotype and protection from senecavirus A infection
Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
research Screening of Sheep Fibroblast Cell Line with the Spider Dragline Silk Protein Gene
Sheep cells were successfully modified to include a spider silk protein gene.
research Correlation Analysis of BLTP1 (KIAA1109) and KIF27 Gene Polymorphisms with Wool Traits in Subo Merino Sheep
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
research A new TH17 cytokine in hidradenitis suppurativa: antimicrobial and pro-inflammatory role of IL-26
IL-26 has antimicrobial and pro-inflammatory effects in the chronic skin condition Hidradenitis Suppurativa.
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
research Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA
A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
research Segmental Vitiligo
Segmental Vitiligo is a stable, early-onset form of vitiligo that responds well to early treatment and is ideal for repigmentation studies.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
research Polyomavirus Associated Trichodysplasia Spinulosa in a Pediatric Kidney Transplant Recipient
A rare skin infection in a 10-year-old kidney transplant patient was successfully managed by adjusting medication.
research Mechanisms of vacuolar phosphate efflux supporting soybean root hair growth in response to phosphate deficiency
Soybean root hair growth under low phosphate relies on specific transporters and transcription factors.
research Detection of human papillomavirus type 56 DNA, belonging to a mucous high-risk group, in hair follicles in the genital area of a woman no longer suffering from viral warts
HPV type 56 can hide in hair follicles even without visible warts.
research PREVENTION OF GRAFT-VERSUS-HOST DISEASE BY INTRATHYMIC INJECTION OF RECIPIENT-TYPE SPLENOCYTES INTO DONOR1
Injecting recipient splenocytes into donors' thymus can prevent graft-versus-host disease.
research 527 PTEN is a master driver of healing inhibition in venous leg ulcers by targeting immune response, angiogenesis and lymphangiogenesis
Targeting PTEN can improve healing in venous leg ulcers.
research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21
A cluster of sulfur-rich hair protein genes was found on chromosome 17.
research Transcriptional regulation analysis and the potential transcription regulator site in the extended KAP6.1 promoter in sheep
research A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
A mutation in the KRT25 gene causes woolly hair and hair loss.
research Analysis of hairless corepressor mutants to characterize molecular cooperation with the vitamin D receptor in promoting the mammalian hair cycle
Certain mutations in the hairless protein disrupt its ability to regulate the hair cycle.
research The Rho GTPase exchange factor Vav2 promotes extensive age-dependent rewiring of the hair follicle stem cell transcriptome
Vav2 changes how hair follicle stem cells' genes work as they age, which might improve regeneration but also raise cancer risk.
research Regulation of VDR by ΔNp63α is associated with inhibition of cell invasion
ΔNp63α helps control a protein that stops cancer cells from spreading.
research Filtration of Transgenic Sheep Skin Fibroblasts with KAP6.1-GFP-polymerized Spider Dragline Silk Protein Gene(4S)
Transgenic sheep cells with spider silk gene were successfully created for future sheep hair expression.
research Transcriptome-based Selection and Validation of Optimal House-keeping Genes for Skin Research in Goats (Capra hircus)
NCBP3, SDHA, and PTPRA are the best genes for normalizing goat skin experiments.
research Hypoxia macrophage-derived exosomal miR-26b-5p targeting PTEN promotes the development of keloids
miR-26b-5p in macrophage exosomes helps keloids grow.
research Cloning of a Functional Vitamin D Receptor from the Lamprey (Petromyzon marinus), an Ancient Vertebrate Lacking a Calcified Skeleton and Teeth
Lampreys have a functional vitamin D receptor that may help detoxify harmful substances.
research Clinical Snippets
Vitamin D helps protect skin, PSORS1 gene's risk interval for psoriasis is expanded, hair follicles can be generated from mouse cells, and interferon-γ may cause pigmented skin lesions.
research 0749 Serine and arginine-rich splicing factor 3 regulates epidermal differentiation in cutaneous squamous cell carcinoma
research Molecular Cloning of 5′ Flanking Region of Ovine Keratin Associated Protein 6-1 Gene and Comparison of the Sequences
The research helps in creating genetically modified animals to study hair growth.
research Identification of Candidate Genes for Min Pig Villi Hair Traits by Genome-Wide Association of Copy Number Variation
Researchers found genes that may explain why some pigs grow winter hair, which could help breed cold-resistant pigs.
research ROOT HAIR DEFECTIVE SIX ‐LIKE 4 (RSL 4) promotes root hair elongation by transcriptionally regulating the expression of genes required for cell growth
The protein RSL4 is crucial for making root hairs longer by controlling genes related to cell growth.