research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
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research Rare Association of Congenital Triangular Alopecia with Vitiligo
Congenital triangular alopecia and vitiligo can occur together, but treatment for one may not affect the other.
research No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research β1 Integrins with Individually Disrupted Cytoplasmic NPxY Motifs Are Embryonic Lethal but Partially Active in the Epidermis
Mutations in β1 integrins cause embryonic death but have milder effects on skin.
research Epidermal Renewal after Treatment of Primary Canine Hypothyroidism using Levothyroxine
Levothyroxine effectively treated a dog's skin and hair problems caused by hypothyroidism.
research Sex Steroids, Precursors, and Metabolite Deficiencies in Men With Isolated Hypogonadotropic Hypogonadism and Panhypopituitarism: A GCMS-Based Comparative Study
Men with isolated hypogonadotropic hypogonadism have partial steroid deficiencies, while those with panhypopituitarism have severe deficiencies.
research A brief review on nutrition management and lifestyle modification in hypothyroidism
Lifestyle changes and a balanced diet can improve thyroid health in people with hypothyroidism.
research Anterior, frontal congenital triangular alopecia, redundancy in therapy without improvement
Recognizing congenital triangular alopecia is crucial to avoid unnecessary treatments.
research Mesenchymal cell specific deletion of Tsc2 regulates hair follicle development and patterning
TSC2 is crucial for proper hair follicle development and patterning.
research LAM/TSC Cell Migration to Uterus in an Experimental Model of Lymphangioleiomyomatosis. Regulation by Anti-Epidermal Growth Factor Receptor Antibody and Rapamycin
Rapamycin and anti-EGFR antibody reduce LAM/TSC cell migration and blood vessel growth in the uterus.
research Polyomavirus Associated Trichodysplasia Spinulosa in a Pediatric Kidney Transplant Recipient
A rare skin infection in a 10-year-old kidney transplant patient was successfully managed by adjusting medication.
research Detection of five substitution TPO mutations in Polycystic Ovary Syndrome (PCOS) and thyroid hormones disturbance patients
Five different TPO gene mutations were found in PCOS patients with thyroid hormone issues.
research Ulerythema ophryogenes with multiple congenital anomalies
The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.
research Treatment of Lipodystrophy with Troglitazone
Troglitazone increases subcutaneous fat in lipodystrophy patients.
research The transcriptional repressor CDP (Cutl1) is essential for epithelial cell differentiation of the lung and the hair follicle
CDP is crucial for lung and hair follicle cell development.
research Thyroid Autoimmunity in Patients with Skin Disorders
People with alopecia areata often have thyroid autoimmunity.
research Epstein-Barr virus associated with high-grade B-cell lymphoma in nude severe combined immunodeficiency
A boy with severe immune deficiency and Epstein-Barr virus died from high-grade B-cell lymphoma.
research Thyroxine (T4) may promote re-epithelialisation and angiogenesis in wounded human skin ex vivo
Thyroxine (T4) may help heal skin wounds by promoting new skin and blood vessel growth.
research What’s new in Birt–Hogg–Dubé syndrome?
New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
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 Pseudo Pemphigus Phenotypes in Mice with Inactivated Desmoglein 3
Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
research Overexpression of insulin-like growth factor-1 induces hyperplasia, dermal abnormalities, and spontaneous tumor formation in transgenic mice
Overexpressing IGF-1 in mice leads to skin abnormalities and tumors.
research LHX2 is a direct NF-κB target gene that promotes primary hair follicle placode down-growth
LHX2 is essential for hair follicle development, controlled by NF-κB and TGFβ2 signaling.
research CLINICAL AND DIAGNOSTIC INSIGHTS INTO HYPOTHYROIDISM IN A SHIH-TZU – A CASE REPORT
A Shih Tzu with hypothyroidism improved significantly after 6 weeks of levothyroxine treatment.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research The TFIID subunit TAF4 regulates keratinocyte proliferation and has cell-autonomous and non-cell-autonomous tumour suppressor activity in mouse epidermis
TAF4 is important for skin cell growth and helps prevent skin cancer in mice.
research 577 The role of YAP1 in regeneration of human skin and in pathological states
YAP1 is important for skin regeneration and may affect skin disorder treatments.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research The Mask Mutation Identifies TMPRSS6 as an Essential Suppressor of Hepcidin Gene Expression, Required for Normal Uptake of Dietary Iron.
TMPRSS6 is crucial for controlling hepcidin and normal iron absorption.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.