research The story of when kidneys fail and the contribution of Air Vice-Marshal Sir Ralph Jackson
Air Vice-Marshal Sir Ralph Jackson significantly advanced dialysis technology in the UK.
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research Tackling underrepresentation to aid understanding of Parkinson’s disease: Progress and further opportunities
Addressing underrepresentation in Parkinson's research is crucial for better treatments and understanding.
research Polycystic Ovary Syndrome: Conditions, Genetics and Current Cure
PCOS has no cure, but treatments can manage symptoms and improve health.
research Main Plenary Sessions: Summaries of Papers
UK medical students lack dermatology education, liver biopsy patients with risk factors show more fibrosis, and certain fungi resist drugs due to melanin; genetics may influence female hair loss.
research Molecular Regulation and Cellular Heterogeneity in Skin Repair and Hair Follicle Regeneration
Ovol2 is crucial for hair growth and skin healing by controlling cell movement and growth.
research Treatment of erythromelanosis follicularis faciei et colli with a 595‐nm pulsed dye laser
The 595-nm pulsed dye laser effectively reduces symptoms of EFFC with minimal side effects.
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 Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
research Effect of 5-alpha reductase inhibitors in animal models of Parkinson’s disease
5-alpha reductase inhibitors may help protect the brain and gut in Parkinson's disease.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research Epigenetics of Colorectal Cancer
Colorectal cancer development involves both genetic changes and epigenetic alterations like DNA methylation and microRNA changes.
research In vivo skin leptin modulation after 14 MeV neutron irradiation: a molecular and FT-IR spectroscopic study
research Role of anabolic agents in colorectal carcinogenesis: Myths and realities (Review)
The link between anabolic agents and colorectal cancer risk is unclear.
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 Erythromelanosis follicularis faciei et colli with reticulated hyperpigmentation of the extremities
A rare skin condition causes red and dark patches on the face and limbs.
research Inflammatory auxo-action in the stem cell division theory of cancer
Chronic inflammation can cause cancer by making stem cells divide and mutate.
research Male infertility and genitourinary birth defects: there is more than meets the eye
Male infertility and genitourinary birth defects are often linked to genetic issues.
research Skinspan: A Holistic Roadmap for Extending Skin Longevity With Evidence‐Based Interventions
The framework suggests sun protection, retinoids, and antioxidants to improve skin longevity.
research Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
research Detection of the nuclear translocation of androgen receptor using quantitative and automatic cell imaging analysis
A new method helps detect androgen receptor movement in cells, aiding research on hair loss treatments.
research Polycystic ovary syndrome (PCOS), an inflammatory, systemic, lifestyle endocrinopathy
PCOS is a complex condition in women that can lead to health issues, and lifestyle changes are the best management approach.
research FOXP3 + regulatory T cells and age‐related diseases
Targeting regulatory T cells may help treat age-related diseases.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Testosterone: The Male Sex Hormone
More research is needed to understand how testosterone is maintained in adult males.
research The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study
Hair follicle sampling is a practical method for measuring biomarkers in children with and without Fragile X syndrome.
research Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
FGF5 gene mutations cause long hair in domestic cats.
research Type 1 Diabetes Mellitus and Autoimmune Diseases: A Critical Review of the Association and the Application of Personalized Medicine
Type 1 diabetes often occurs with other autoimmune diseases, and personalized treatment based on genetics can improve outcomes.
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.