research Syndromes of Severe Insulin Resistance (SSIRs)
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
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720-750 / 1000+ results research Characterization of an autoimmune condition associated with AEC syndrome
Controlling Tslp can improve health in AEC syndrome patients.
research A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome
The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.
research Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex
Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
research Lrig1-expressing epidermal progenitors require SCD1 to maintain the dermal papilla niche
Hair growth-related cells need the enzyme SCD1 to help maintain the area that supports hair growth.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research The Androgen Receptor and Its Use in Biological Assays: Looking Toward Effect-Based Testing and Its Applications
Scientists have developed a new method to detect steroid abuse in athletes using cell-based tests, which could be the future of anti-doping methods.
research LUPUS ERYTHEMATOSUS AND THE SKIN
Lupus affects the skin in various ways, and proper skin examination is crucial for diagnosis and treatment.
research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Expression of Potential Dermal Progenitor Cell Markers in the Tumour and Stroma of Skin Adnexal Malignant and Benign Tumours
Markers CRABP1, Nestin, and Ephrin B2 are present in skin cancer environments and may influence their development.
research Fully Natural Lecithin Encapsulated Nano-Resveratrol for Anti-Cancer Therapy
Lecithin-encapsulated resveratrol nanoparticles could be a safe and effective anti-cancer treatment.
research Role of Stearoyl-CoA Desaturase-1 in Skin Integrity and Whole Body Energy Balance
SCD1 is crucial for skin health and overall energy balance.
research E58 The rheumatologic masquerader: a case report on SLE-dermatomyositis-systemic scleroderma overlap syndrome
Early referral to a pediatric rheumatologist and thorough evaluation are crucial for treating complex overlap syndromes effectively.
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.
research Transcriptome and proteome characterization of surface ectoderm cells differentiated from human iPSCs
Blocking TGFβ-RI signaling enhances surface ectoderm differentiation from human stem cells.
research Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research SOX11 and SOX4 drive the reactivation of an embryonic gene program during murine wound repair
SOX11 and SOX4 help skin cells act like embryonic cells to heal wounds in mice.
research 1347 Updated skin transcriptomic atlas depicted by reciprocal contribution of single-nucleus RNA sequencing and single-cell RNA sequencing
The research updated the skin cell profile, finding new skin cell markers and showing fibroblasts' key role in skin health.
research Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis
A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
research Re-Assessing K15 as an Epidermal Stem Cell Marker
research Management of a Refractory EIF3E-RSPO2 Fusion Positive Pilomatrical Cancer Patient with Encyclopedic Tumor Analysis Guided Treatment
Personalized treatment based on detailed tumor analysis successfully managed and reduced the patient's aggressive hair follicle cancer.
research An Expert System for Clinical Risk Assessment of Polycystic Ovary Syndrome under Uncertainty
The document concludes that the new expert system can assess the risk of PCOS effectively despite uncertainties in diagnosis.
research The Retinoic-Acid-Related Orphan Receptor Alpha May Be Highly Involved in the Regulation of Seasonal Hair Molting
RORA plays a key role in controlling seasonal hair molting by affecting hair follicle cell activity.
research FOXE1, A New Transcriptional Target of GLI2 Is Expressed in Human Epidermis and Basal Cell Carcinoma
research lncRNAs UC.145 and PRKG1-AS1 Determine the Functional Output of DKK1 in Regulating the Wnt Signaling Pathway in Gastric Cancer
UC.145 may be a new biomarker for predicting gastric cancer.
research Erosive pustular dermatosis of the scalp - is it really a rare condition?
Erosive pustular dermatosis of the scalp may not be as rare as previously thought.
research PC-SPES Studies Promising, But Manufacturer Shuts Down
Promising cancer treatments were found, but the manufacturer closed.
research ER71/ETV2 Promotes Hair Regeneration from Chemotherapeutic Drug-Induced Hair Loss by Enhancing Angiogenesis
The protein ER71/ETV2 helps regrow hair after chemotherapy by improving the growth of new blood vessels.
research A temperature-sensitive FERONIA mutant allele that alters root hair growth
A mutant FERONIA gene affects root hair growth at high temperatures.