research Omenn Syndrome in a 10-Month-Old Male With Athymia and VACTERL Association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
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research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 and Non-Ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research Loss of TET2 Tips the Scales Toward Tumorigenesis
Loss of TET2 increases the risk of skin and oral cancer.
research Autoimmune Polyendocrine Syndrome Type 1: A Case Report from Bangladesh
A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.
research Role of Stem Cells in Skin Maintenance, Regeneration, and Repair: Focus on Epidermis and Pilosebaceous Units
The document concluded that stem cells are crucial for skin repair, regeneration, and may help in developing advanced skin substitutes.
research A Case of Atopic Dermatitis with Alopecia Universalis in a Patient Treated with Abrocitinib
Abrocitinib, a JAK inhibitor, may help treat atopic dermatitis and alopecia universalis together.
research Ectodysplasin Signaling in Cutaneous Appendage Development: Dose, Duration, and Diversity
Ectodysplasin signaling is crucial for skin appendage development, requiring specific doses and durations.
research Forensic DNA Phenotyping
Forensic DNA Phenotyping accurately predicts physical traits and is used in investigations, but needs more diverse population data for confirmation.
research Fabrication of Astaxanthin-Loaded Electrospun Nanofiber-Based Mucoadhesive Patches With Water-Insoluble Backing for the Treatment of Oral Premalignant Lesions
The new patch for treating mouth sores releases medicine slowly, sticks well, and helps healing without the side effects of current creams.
research Identification of Key Genes and Signaling Pathways Related to Hetian Sheep Wool Density by RNA-Seq Technology
Certain genes and pathways are linked to the production of finer and denser wool in Hetian sheep.
research Spotlight Commentary: Importance of Dose Redefining in the Process of Drug Repurposing
Redefining drug dosages is crucial when repurposing them for new uses.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Deficient Anterior Pituitary With Common Variable Immune Deficiency (David Syndrome): A New Case and Literature Reports
DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
research Germline Mutation in ATR in Autosomal-Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Viral-Associated Trichodysplasia Spinulosa: A Case with Electron Microscopic and Molecular Detection of the Trichodysplasia Spinulosa-Associated Human Polyomavirus
A rare skin condition was confirmed to be associated with a specific virus in a young girl.
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 Pharmacologic Therapy of Polycystic Ovary Syndrome
The document concludes that treating PCOS requires a combination of drugs to manage reproductive and metabolic symptoms, with more research needed on combination therapies.
research A Rare Case of Proliferating Trichilemmal Tumor Treated with Radiotherapy
Radiotherapy effectively treated a large scalp tumor in an elderly woman, avoiding surgery.
research Benign Skin Tumors: Overview, Clinical Features, Histopathology, and Treatment Options
Benign skin tumors need accurate diagnosis to ensure proper treatment.
research Clinical Findings, Cutaneous Pathology, and Response to Therapy in 21 Patients With Keratosis Pilaris Atrophicans
The study found that Keratosis Pilaris Atrophicans is a genetic skin condition that starts in childhood, involves inflammation and scarring, and current treatments are only somewhat effective.
research Involvement of Wnt, Eda, and Shh at Defined Stages of Sweat Gland Development
Wnt, Eda, and Shh pathways are crucial for different stages of sweat gland development in mice.
research Lessons Learned from the First Decade of Laser-Assisted Drug Delivery
Laser-assisted drug delivery has shown improved treatment outcomes for skin conditions and has potential to reduce side effects and treatment time.
research Epidermal Stem Cell Fate: What Can We Learn from Embryonic Stem Cells?
Embryonic and adult stem cells are valuable for improving skin grafts and cell therapy.
research Sebaceous Carcinoma Arising at a Chronic Candidiasis Skin Lesion of a Patient with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A man with KID syndrome developed a rare cancer in a long-term skin infection.
research Hypothyroidism in Dogs
Hypothyroidism in dogs is usually caused by immune system issues or gland atrophy, affects middle-aged purebreds most, and is treatable with medication.
research Decay of Skin-Specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, leading to their unique scales and skin features.
research Montagna Symposium 2017—Precision Dermatology: Next Generation Prevention, Diagnosis, and Treatment
The symposium highlighted the importance of understanding disease mechanisms for targeted dermatology treatments.
research Increased Expression of TSPEAR in Colorectal Cancer Predicts Poor Prognosis
High TSPEAR levels in colorectal cancer predict worse outcomes.
research Increased Expression of TSPEAR in Colorectal Cancer Predicts Poor Prognosis
High TSPEAR levels in colorectal cancer predict worse outcomes.