research Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development
The PP2A-B55α protein is essential for brain and skin development in embryos.
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360-390 / 1000+ results research Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer
Certain genetic variants increase the risk of aggressive prostate cancer.
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Repigmentation of leukoderma in a piebald patient associated with a novel c-KIT gene mutation, G592E, of the tyrosine kinase domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research Loss of Ten1 in mice induces telomere shortening and models human dyskeratosis congenita
Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
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.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Trachyonychia with juvenile pityriasis rubra pilaris
A young boy with a rare skin and nail condition improved significantly with simple topical treatments.
research Avaliação dos efeitos da finasterida sobre o desenvolvimento prostático intrauterino e pós-natal inicial de fêmeas e machos do gerbilo da Mongólia ("Meriones unguiculatus")
Finasteride affects prostate development differently in male and female Mongolian gerbils.
research 1349 Inducing fate changes at the hair follicle stem cell nice
The study found that aging hair follicle stem cells change behavior, leading to hair loss, but drugs targeting these cells may help restore hair growth.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research 1492 Prostacyclin pathway to enhance wound healing in diabetic foot ulcers
Treprostinil, a drug, can delay wound healing in healthy cells but doesn't affect diabetic foot ulcer cells, suggesting further research could help understand its role in treating these ulcers.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research Molecular mechanism for transcriptional regulation of the parathyroid hormone gene by Epiprofin
Epiprofin suppresses parathyroid hormone gene activity, helping regulate calcium levels and could be a treatment target for hyperparathyroidism.
research News in brief
A new protein linked to Alzheimer's was discovered, and a hair loss treatment showed effectiveness but had some sexual side effects.
research ACOD1 deficiency promotes DDX1 methylation–mediated mitochondrial dysfunction and dermal papilla cell senescence in androgenetic alopecia
ACOD1 deficiency worsens hair loss by causing cell aging and mitochondrial problems, but 4-OI may help.
research Standardization of Plasma Rich in Growth Factors (PRGF) and its effects on androgenic hair loss
PRGF treatments increased hair number and thickness in people with hair loss, with more injections leading to better results.
research Inhibition of the development of metastatic squamous cell carcinoma in protein kinase C epsilon transgenic mice by alpha-difluoromethylornithine accompanied by marked hair follicle degeneration and hair loss.
Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
research Mouse models with a disrupted PTHrP gene or a disrupted PTH gene (PTH−/− mice)
PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.
research Decreased selenium intake and low plasma selenium concentrations leading to clinical symptoms in a child with propionic acidaemia
Selenium deficiency caused symptoms in a child, which improved with selenium supplements.
research Investigation of the comprehensive treatment’s clinical efficacy of various types of alopecia using proteoglycan replacement therapy
Proteoglycan replacement therapy improved hair conditions in most patients with alopecia.
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 EP-2270: Novel protective effect of prostaglandin for timely hair follicle regeneration from radiation injury
Prostaglandin helps regenerate hair follicles after radiation damage.
research Transgenic mice provide new insights into the role of TGF-alpha during epidermal development and differentiation.
TGF-alpha affects skin thickness, hair growth, and may contribute to psoriasis and papilloma formation.
research Hair follicle aging is driven by transepidermal elimination of stem cells via COL17A1 proteolysis
Hair loss and aging are caused by the breakdown of a key protein in hair stem cells.
research The effect of platelet-derived growth factor-aa (PDGFA) conjugated with low-molecular-weight protamine (LMWP) on hair loss improvement effect
LMWP-PDGFA shows promise for improving hair health and treating hair loss with fewer side effects.