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research NEW CHALLENGE TO CANCER AND LONGEVITY
A group has developed therapies that show promise for treating cancer and various other conditions.
research 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes
The gene therapy showed significant wound healing and was safe for treating severe RDEB.
research The Functional Diversity of Epidermal Keratins Revealed by the Partial Rescue of the Keratin 14 Null Phenotype by Keratin 16
K16 can partially replace K14 but causes hair loss and skin issues.
research The Autoimmune Regulator (AIRE), Which Is Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17
AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Prevalence of cutaneous markers in coronary artery disease cases
A preauricular crease is common in people with coronary artery disease.
research Epicardial fat thickness in children with classic congenital adrenal hyperplasia
Children with classic congenital adrenal hyperplasia have thicker heart fat and more heart and blood vessel risk factors, especially if their condition is not well-controlled.
research Anti-CD44-mediated blockade of leukocyte migration in skin-associated immune diseases
Blocking CD44 can reduce leukocyte migration in autoimmune skin diseases.
research Diagnostic value of the diagonal earlobe crease in combination with lipoprotein(a) in coronary heart disease
Diagonal earlobe crease and lipoprotein(a) together help diagnose coronary heart disease.
research 19th Annual Dermatology Update and All That Jazz
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research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research PA30 Evaluation of markers of inflammation and oxidative stress in patients with premature canities
Premature canities is linked to low vitamin D and B12, family history, and higher MHR.
research Rps14 upregulation promotes inner ear progenitor proliferation and hair cell regeneration in the neonatal mouse cochlea
Increasing Rps14 helps grow more inner ear cells and repair hearing cells in baby mice.
research The Investigation of LPA 4 Functions in Zebrafish
LPA 4 helps control blood and lymph vessel development in zebrafish.
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 Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Inhibition of a signaling modality within the gp130 receptor enhances tissue regeneration and mitigates osteoarthritis
Blocking a certain signal in the gp130 receptor can improve tissue healing and lessen osteoarthritis symptoms.
research 50842 Mohs micrographic surgery for nail-unit squamous cell carcinoma
research Message from the 2014 Annual Scientific Meeting Program Chair
The document's content couldn't be processed to provide a conclusion.
research CD44 signaling in skin wound healing and regeneration
CD44 signaling can help heal wounds without scars.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research Epicardial Fat Thickness in Children with Classic Congenital Adrenal Hyperplasia
Children with classic congenital adrenal hyperplasia have thicker heart fat and are at higher risk for heart problems and early atherosclerosis.
research 068 Association of systemic involvement with skin morphology assessed by multiphoton microscopy in pseudoxanthoma elasticum
Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
research Cardiac biopsy in myocarditis
Some people have a genetic variation that makes them less effective at breaking down drugs.
research P7 p63, K14 and p53 expression in epithelial layers of tumor-distant oral mucosa in patients with oral squamous cell carcinoma
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.