research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
Search
for
Sort by
Research
480-510 / 1000+ resultsresearch Complex X chromosome rearrangement associated with multiorgan autoimmunity
A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
research Collodion baby case series: the success of oral retinoic acid
Oral retinoic acid effectively treated collodion baby, with hair loss as the main side effect.
research Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Limb amputations; etiopathogenesis, diagnosis and the multidisciplinary therapeutic approach
Reducing accidents and treating vascular diseases can lower the need for life-impacting amputations.
research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
research Understanding, recognizing, and managing toxicities of targeted anticancer therapies
Targeted anticancer therapies can cause severe side effects similar to traditional chemotherapy, but with different types.
research Vitamin D: More Than a “Bone-a-Fide” Hormone
Vitamin D is important for bones, hair, blood pressure, and breast development.
research Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
research Dupilumab in Inflammatory Skin Diseases: A Systematic Review
Dupilumab effectively treats various inflammatory skin diseases beyond its initial use for atopic dermatitis.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research Sostdc1 defines the size and number of skin appendage placodes
Sostdc1 controls the size and number of hair and mammary gland structures.
research Coronavirus 2019 Infectious Disease Epidemic: Where We Are, What Can Be Done and Hope For
Effective vaccines and treatments are crucial for long-term COVID-19 control.
research Progenitor Cell Dysfunctions Underlie Some Diabetic Complications
Diabetes causes lasting cell dysfunctions, leading to serious complications even after blood sugar is controlled.
research Overview of Caffeine Effects on Human Health and Emerging Delivery Strategies
Caffeine can boost health, prevent diseases, and improve performance, with new methods enhancing its benefits.
research A Scarless Healing Tale: Comparing Homeostasis and Wound Healing of Oral Mucosa With Skin and Oesophagus
Oral mucosa heals with minimal scarring, offering insights for scarless wound healing.
research Keratin intermediate filaments in the colon: guardians of epithelial homeostasis
Keratin proteins are essential for keeping the cells in the human colon healthy and stable.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations
Disrupting β-catenin signaling in certain cells causes anorectal malformations.
research Evidence for 1,25-Dihydroxyvitamin D3-independent Transactivation by the Vitamin D Receptor
The vitamin D receptor can work without its usual activating molecule.
research Polycystic ovary syndrome and its management: In view of oxidative stress
Lifestyle changes, exercise, and antioxidants can help manage polycystic ovary syndrome.
research Gender Differences in Response to COVID-19 Infection and Vaccination
Men generally face more severe COVID-19 outcomes than women, partly due to hormonal differences.
research Poster Presentations
Ustekinumab successfully treated a man's resistant skin condition when other treatments failed.
research Mammalian-specific ectodermal enhancers control the expression of Hoxc genes in developing nails and hair follicles
HoxC genes are crucial for normal hair and nail development.
research HEALTH SURVEY OF BOREAL CARIBOU (RANGIFER TARANDUS CARIBOU) IN NORTHEASTERN BRITISH COLUMBIA, CANADA
Boreal caribou in northeastern British Columbia have significant health issues, including infections, tick infestations, and mineral deficiencies.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Body Representation in Patients with Severe Spinal Cord Injury: A Pilot Study on the Promising Role of Powered Exoskeleton for Gait Training
Powered exoskeleton training improves body perception and quality of life in spinal cord injury patients.
research Overview of Caffeine Effects on Human Health and Emerging Delivery Strategies
Caffeine can boost health but may cause side effects like high blood pressure and migraines.
research Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
TTD symptoms vary widely, requiring thorough evaluations.
research Update on the therapeutic role of metformin in the management of polycystic ovary syndrome: Effects on pathophysiologic process and fertility outcomes
Metformin helps manage PCOS by improving fertility and is safe for pregnancy, especially when combined with certain treatments.