research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
Search
for
Sort by
Research
150-180 / 1000+ results 
research MULTIOMICS – A NEW EXCITING ERA OF RESEARCH
Multiomics is revolutionizing biology by enabling breakthroughs in research and disease diagnosis.
research 860 Understanding cellular & molecular responses in the treatment of pediatric lymphatic anomalies
Sirolimus and propranolol may reduce abnormal cell growth and improve lymphatic malformations in children.
research Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research Poly(γ-Glutamic Acid)/Chitosan Hydrogel Nanoparticles For Effective Preservation And Delivery Of Fermented Herbal Extract For Enlarging Hair Bulb And Enhancing Hair Growth
The nanoparticles improved hair growth and enlarged hair bulbs.
research Rapid generation of homogenous tumor spheroid microtissues in a scaffold-free platform for high-throughput screening of a novel combination nanomedicine
A new triple drug system using nanoparticles effectively targets breast tumors in 3D models.
research Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth
Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.
research COVID‐19, androgens, and androgenic alopecia
COVID-19 may worsen with androgens; anti-androgen drugs could help.
research Hair cell toxicology: With the help of a little fish
Zebrafish larvae are used to study and find treatments for ear cell damage because they are easier to observe and test than mammals.
research Drug Repositioning: New Opportunities for Older Drugs
Finding new uses for existing drugs is promising and can lead to safer, more effective medicines.
research Simultaneous Quantification of Dexpanthenol and Resorcinol from Hair Care Formulation Using Liquid Chromatography: Method Development and Validation
Researchers created a reliable method to measure dexpanthenol and resorcinol in hair products.
research Updates from the British Association of Dermatologists 91st Annual Meeting, 5-7 July 2011, London, U.K.
New treatments and management strategies for skin conditions like melanoma and Spitz naevi were discussed at the dermatologists' meeting.
research Cross-species amplification of human microsatellite markers in pig-tailed and stump-tailed macaques
Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
research Human pluripotent stem cell-derived skin organoids enabled pathophysiological model of Mycobacterium tuberculosis infection
Skin organoids can model tuberculosis infection and help test treatments.
research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
research The Rotterdam Study: 2016 objectives and design update
The Rotterdam Study found risk factors for elderly diseases, links between lifestyle and genetics with health conditions, and aimed to explore new areas like DNA methylation and sensory input effects on brain function.
research Hair morphogenesisin vitro: formation of hair structures suitable for implantation
Scientists created early-stage hairs from mouse cells that grew into normal, pigmented hair when implanted into other mice.
research Chronic overlapping pain conditions and nociplastic pain
Nociplastic pain is a complex, heritable trait with genetic links to chronic and neuropathic pain.
research Targeting the Complexity of In Vitro Skin Models: A Review of Cutting-Edge Developments
In vitro skin models are improving but still need more innovation to fully replicate human skin.
research Organoid‐Guided Precision Medicine: From Bench to Bedside
Organoid technology is improving personalized medicine by better predicting drug responses and treatments.
research Androgens induce sebaceous differentiation in sebocyte cells expressing a stable functional androgen receptor
Androgens cause oil-producing skin cells with androgen receptors to mature and produce more oil.
research STAT3 Partly Inhibits Cell Proliferation via Direct Negative Regulation of FST Gene Expression
The protein STAT3 slows down cell growth by blocking the FST gene, which affects hair development in sheep.
research Rare and common genetic determinants of metabolic individuality and their effects on human health
Genetic variations greatly affect individual metabolism and can impact health and disease risk.
research CSI on steroids
Forensic DNA phenotyping can help generate new leads in cold cases but faces accuracy, legal, and acceptance challenges.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
research Pathogenicity and enzyme screening of some selected non-dermatophytic moulds
Some moulds can cause skin issues and produce enzymes that may increase their harmfulness.
research Genome-wide association study of atopic and autoimmune comorbidities in alopecia areata
Certain genes may be linked to autoimmune conditions in people with alopecia areata.
research Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population
Autosomal recessive woolly hair is rare and involves tightly coiled hair without other health issues.