research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
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research Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
research Pigmentary Puzzle: A Rare Case of Hyperpigmented Cutaneous Sarcoidosis
Early biopsy is crucial for diagnosing rare skin sarcoidosis, improving treatment.
research Premature aging syndromes: From patients to mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research 1329 CENPV is a novel CYLD-interacting molecule regulating ciliary acetylated tubulin
CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
research A Case of Systemic Lupus Erythematosus with Cutaneous Leukocytoclastic Vasculitis
A woman with lupus developed a rare skin condition, which improved with increased medication.
research Cutaneous Ultrastructural Features of the Flaky Skin (fsn) Mouse Mutation
The flaky skin mouse mutation is a natural model for studying human psoriasis.
research Cronkhite-Canada Syndrome: A Case Report
Steroids, infection management, and nutritional support can significantly improve symptoms of Cronkhite-Canada Syndrome.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research 732 Ceramide synthase 4 controls epidermal lipid composition and barrier function
Ceramide synthase 4 is essential for maintaining skin barrier health.
research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research Cellular Senescence and Aging in Myotonic Dystrophy
Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
research The Glucocorticoid Resistance Syndrome. Two Cases of a Novel Pathogenic Variant in the Glucocorticoid Receptor Gene
A new gene variant causes glucocorticoid resistance in a mother and son.
research SAT-127 Localization and Treatment of the Ectopic ACTH Syndrome Using Somatostatin Analogues
Somatostatin analogues effectively manage ectopic ACTH syndrome when surgery isn't possible.
research 921 Generation of a new rodent model of scleroderma
Researchers created a new mouse model for studying scleroderma.
research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
research Spontaneous improvement of Cronkhite-Canada syndrome in a postpartum female
A young woman's Cronkhite-Canada syndrome improved on its own after she gave birth.
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Soft-tissue calcification in systemic lupus erythematosus
Soft-tissue calcification is rare in systemic lupus erythematosus.
research SPRY1 Deficiency in Keratinocytes Induces Follicular Melanocyte Stem Cell Migration to the Epidermis through p53/Stem Cell Factor/C-KIT Signaling
SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.
research LEKTI: Netherton Syndrome and Atopic Dermatitis
LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
research THE GENETICS OF CYP GENE VARIANTS IN ASSOCIATION WITH POLYCYSTIC OVARY SYNDROME: A NARRATIVE REVIEW
Genetic variants in CYP genes may worsen PCOS symptoms.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
research A rare case of Vitamin D dependent rickets type II: a case report
A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
research Acitretin-Altered Squamous Cell Carcinoma
research Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
research Comment on 'A prospective real world study evaluating serum levels of arginine and cysteine in females with chronic telogen effluvium: do we really need blanket prescription with amino acid supplementation?'
Amino acid supplements may not be necessary for all women with chronic hair loss.
research Toxicity of the immune suppressant cyclosporin A in the rat
Cyclosporin A is highly toxic to rats, causing severe health issues and death.
research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
research Netherton's syndrome and ichthyosis linearis circumflexa.
Netherton's syndrome may have a familial link and doesn't always include atopy.