research 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.
Search
for
Sort by
Research
420-450 / 1000+ results
research Non-viral delivery of the CRISPR/Cas system: DNAversusRNAversusRNP
RNA delivery is best for in-body use, while RNP delivery is good for outside-body use. Both methods are expected to greatly impact future treatments.
research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research Pinkie, the First Viable Germline Hypomorph Allele of Retinoid X Receptor Alpha, Reveals an Important Role for RXRa in Th2 Development.
RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
research Accurate quantification of minimal residual disease at day 15, by real-time quantitative polymerase chain reaction identifies also patients with B-precursor acute lymphoblastic leukemia at high risk for relapse
Measuring minimal residual disease on day 15 helps identify high-risk leukemia patients.
research Successful Treatment of Cutaneous Rosai–Dorfman Disease With Pulsed Dye Laser
Pulsed Dye Laser effectively treats skin lesions in Rosai–Dorfman Disease.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research 085 Post-translational regulation of hair keratins in transfected COS-1 cells
research Assessment of Dysregulation of HERC6 and Essential Biological Processes in Response to Laser Therapy of Human Arm Skin
Laser therapy on human skin affects the HERC6 gene and related genes, influencing many cell processes and requiring careful safety measures.
research The inconsistent regulation of HOXC13 on different keratins and the regulation mechanism on HOXC13 in cashmere goat (Capra hircus)
The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
research Transgenic mouse models support HCR as an effector gene in the PSORS1 locus
The HCR gene contributes to psoriasis risk.
research Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research DcR3 reprograms macrophage plasticity to promote wound healing and hair regeneration
DcR3 helps heal wounds and regrow hair by changing macrophages to a repair-focused type.
research Inducible, reversible hair loss in transgenic mice.
Scientists made a mouse that can be made to lose hair and then grow it back.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research Laser Lax for Donor Closure
Laser Lax is a new tool that measures scalp looseness accurately and comfortably.
research Generation of Tβ4 knock-in Cashmere goat using CRISPR/Cas9
Researchers used CRISPR/Cas9 to create a goat with a gene that increased cashmere production by 74.5% without affecting quality.
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research iε-(γ-Glutamyl) lysine cross-linkage in citrulline-containing protein fractions from hair
Specific cross-linkages help make hair proteins stable and strong.
research Low-Level Laser Therapy (LLLT) in Wound Healing
Low-Level Laser Therapy helps heal wounds and regenerate tissue when used correctly.
research Abstract 12: LGR6+ Epithelial Stem Cell Augmentation of Fracture Healing
LGR6+ stem cells may improve bone healing.
research Gene expression profiling analysis reveals fur development in rex rabbits (Oryctolagus cuniculus)
Gene expression affects fur development in rex rabbits.
research Itpr3 Is Responsible for the Mouse Tufted (tf) Locus
The Itpr3 gene causes a specific hair pattern in mice.
research ALOPECIA AREATA PROFILING SHOWS LNCRNAS REGULATE THE SUPPRESSED EXPRESSION OF KERATIN.
Certain RNAs may help diagnose alopecia areata by affecting keratin genes.
research Tissue regenerative delays and synthetic lethality in adult mice after combined deletion of Atr and Trp53
Removing both Atr and Trp53 genes in adult mice causes severe tissue damage and death due to DNA damage.
research Transcriptome analyses of reprogrammed feather / scale chimeric explants revealed co-expressed epithelial gene networks during organ specification
Key genes can rewire networks, changing skin appendage types.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Lanceolate Hair (lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.