research This Month in the Journal
The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
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research British Hair and Nail SocietyOral presentationsBH01 (P087) The British Hair and Nail Society present a review of our national grand round of challenging hair disorders and the benefits to the wider British Association of Dermatologists membership
The grand round helps improve diagnoses and suggests new treatments for hair disorders.
research Demethylation of ITGAV accelerates osteogenic differentiation in a blast-induced heterotopic ossification in vitro cell culture model
Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk
Researchers found 71 genetic regions linked to male pattern baldness, which account for 38% of its genetic risk.
research GSK-3 Inhibitors: Recent Developments and Therapeutic Potential
Drugs that block GSK-3 show promise for treating various diseases.
research 494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation
A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
research Latent transforming growth factor beta-binding protein 1 (LTBP1): roles as a multifunctional extracellular matrix regulator in human disease. From molecular mechanisms to clinical translation prospects
LTBP1 is a key regulator in diseases and a potential target for new treatments.
research Large-Scale Plasma Proteomics and Genetic Integration Uncover Novel Biological Pathways in Male Pattern Baldness
New biological pathways and potential treatment targets for male pattern baldness were identified.
research Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.
research Inhibition of JAK-STAT Signaling with Baricitinib Reduces Inflammation and Improves Cellular Homeostasis in Progeria Cells
Baricitinib reduces inflammation and improves cell health in premature aging cells.
research Dysmorphic Concern Questionnaire: Greek Translation, Validation and Psychometric Properties
The Greek DCQ is a reliable and valid tool for assessing dysmorphic concern.
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research Mult-trait analysis of GWAS - Perceived youtfulness - UKBB
The conclusion is that certain traits, including perceived facial aging and BMI, are linked to perceived youthfulness differently in men and women.
research Ginsenosides in Panax ginseng Extract Promote Anagen Transition by Suppressing BMP4 Expression and Promote Human Hair Growth by Stimulating Follicle-Cell Proliferation
Panax ginseng extract helps human hair grow by encouraging growth phase transition and cell proliferation while reducing certain protein expression.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
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 Dihydrotestosterone Induces Proliferation, Migration, and Invasion of Human Glioblastoma Cell Lines
Dihydrotestosterone increases growth and spread of human brain cancer cells, and blocking its formation might help treat this cancer.
research Nucleocytoplasmic Communication in Progeria
Defective nuclear transport may cause gene expression changes in Progeria.
research 573 Discovery of JW0061, a novel GFRA1 agonist, as a hair regeneration stimulant via WNT signaling activation in dermal papilla cells
JW0061 may be a new treatment for hair loss by promoting hair growth through WNT signaling.
research Geranyl Acetate Attenuates Para-phenylenediamine-induced Cytotoxicity, DNA Damage, Apoptosis, and Inflammation in HaCaT Keratinocytes
Geranyl acetate can protect skin cells from damage and inflammation caused by para-phenylenediamine.
research A new tool for conditional gene manipulation in a subset of keratin‐expressing epithelia
The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
research P087 The British Hair and Nail Society present a review of our national grand round of challenging hair disorders and the benefits to the wider British Association of Dermatologists membership
The review helps improve diagnosis and treatment of challenging hair disorders.
research SB216763-loaded multifunctional copper-doped bioglass 3D printed scaffold promotes wound healing and functional skin regeneration
The 3D printed scaffold with SB216763 and copper helps heal wounds and regrow skin and hair.
research Hair of the Dog: Identification of a Cis-Regulatory Module Predicted to Influence Canine Coat Composition
Researchers found a genetic region that influences the number of coat layers in dogs.
research A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
research 924 Efficient genome editing using CRISPR/Cas9 ribonucleoprotein approach in iPS cells for recessive dystrophic epidermolysis bullosa
Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
research CXXC5: A novel regulator and coordinator of TGF-β, BMP and Wnt signaling
CXXC5 is a protein that controls cell growth and healing processes, and changes in its activity can lead to diseases like cancer and hair loss.
research Anogenital distance as a biomarker for incomplete masculinization : Molecular mechanisms in the perineum
A short male anogenital distance may indicate incomplete masculinization due to disrupted androgen action.
research GLI2 Is Expressed in Normal Human Epidermis and BCC and Induces GLI1 Expression by Binding to its Promoter
GLI2 activates GLI1, promoting skin tumor growth and hair development.