research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
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research Primary Scarring Alopecias
The document concludes that primary scarring alopecias cause permanent hair loss, have unpredictable outcomes, and lack definitive treatments, requiring personalized care.
research Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
research Unusual acute lupus hemophagocytic syndrome – a test of diagnostic criteria: a case report
The 2012 criteria are better for diagnosing atypical lupus cases.
research Skin and metabolic syndrome: A review of the possible associations
Certain medications can impact metabolic syndrome, with some improving conditions like high blood sugar and others having no effect.
research Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion
Minoxidil helps restore thymus size in 22q11.2 deletion syndrome.
research An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.
research Impaired LEF1 Activation Accelerates iPSC-Derived Keratinocytes Differentiation in Hutchinson-Gilford Progeria Syndrome
Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
research Integration of Biochemical and Mechanical Signals at the Nuclear Periphery: Impacts on Skin Development and Disease
The conclusion is that the nuclear lamina and LINC complex in skin cells respond to mechanical signals, affecting gene expression and cell differentiation, which is important for skin health and can impact skin diseases.
research Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies
Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
research Drug repurposing of cyclin-dependent kinase inhibitors for neutrophilic acute respiratory distress syndrome and psoriasis
CDK inhibitors may help treat ARDS and psoriasis but need more testing for safety and effectiveness.
research Mesenchymal cell replacement corrects thymic hypoplasia in murine models of 22q11.2 deletion syndrome
Replacing defective mesenchymal cells with normal ones fixes thymic growth issues in 22q11.2DS mouse models.
research Renal Carcinoma Presenting with Adrenocortical Insufficiency Due to a Pituitary Metastasis
A man's adrenal insufficiency was caused by a pituitary tumor linked to kidney cancer.
research Diseases associated with hidranitis suppurativa: part 2 of a series on hidradenitis
Hidradenitis suppurativa is linked to various diseases like obesity, depression, arthritis, and Crohn's disease, but often occurs alone.
research Dupilumab in Inflammatory Skin Diseases: A Systematic Review
Dupilumab effectively treats various inflammatory skin diseases beyond its initial use for atopic dermatitis.
research Myotonic Dystrophy—A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Histological and Gene Expression Analysis of the Effects of Menopause Status and Hormone Therapy on the Vaginal Introitus and Labia Majora
Menopause causes significant changes in the vaginal introitus, but less so in the labia majora, which may lead to symptoms of vaginal atrophy.
research Cardiovascular risk in patients with selected cutaneous diseases
Skin diseases like psoriasis, lupus, and others can increase heart disease risk due to factors like chronic inflammation and genetic susceptibility.
research Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases
PADs are crucial for healthy skin and hair, and their imbalance can cause skin and hair disorders.
research Of PCOS Symptoms, Hirsutism Has the Most Significant Impact on the Quality of Life of Iranian Women
Excessive hair growth affects the quality of life of Iranian women with PCOS the most.
research Pleiotropic Role of Notch Signaling in Human Skin Diseases
Notch signaling disruptions can cause various skin diseases.
research The Search for the Causes of Common Hyperandrogenism, 1965 to Circa 2015
Significant progress was made in understanding androgen excess disorders, but much is still unknown.
research The Role of Probiotics and Synbiotics on Hirsutism
Probiotics and synbiotics might help manage hirsutism by improving insulin resistance.
research PCOS in Adolescents—Ongoing Riddles in Diagnosis and Treatment
Diagnosing and treating PCOS in teenagers is difficult, and the focus is on lifestyle changes and medication to improve health and prevent future issues.
research Off-Label Use of Botulinum Toxin in Dermatology—Current State of the Art
Botulinum toxin is effective for various skin conditions, but more research and awareness of side effects are needed.
research Interval training and cardiometabolic health in reproductive-aged females
Interval training is better for heart and metabolic health in reproductive-aged females than regular moderate exercise.
research Modern approaches to diagnostics of hyperandrogenism distributed forms in reproductive aged women
Accurate diagnosis of hyperandrogenism, especially PCOS, is crucial for managing fertility and metabolic risks in women.
research Paxillin regulates androgen receptor expression associated with granulosa cell focal adhesions
Paxillin may help manage androgen-related disorders like PCOS by stabilizing androgen receptor proteins.
research Hyperandrogenism: Acne and Hirsutism
Personalized treatment is crucial for women with hyperandrogenism-related acne and hirsutism.