research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
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390-420 / 1000+ resultsresearch Keratosis Follicularis Spinulosa Decalvans. What Syndrome Is This?
Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
research Donor removal–sterile technique
The document's conclusion cannot be determined.
research 115 AE法による実機水車発電機軸受の診断(セッション4 評価・診断II)
KSR1 is crucial for certain skin tumor formation and could be a cancer therapy target.
research Diagnostic criteria for enduring sexual dysfunction after treatment with antidepressants, finasteride and isotretinoin
The document sets criteria for diagnosing long-term sexual dysfunctions caused by certain medications.
research 570 Examining cutaneous disease activity as an outcome measure for clinical trials in dermatomyositis
Skin disease activity scores can help decide when skin symptoms no longer affect the quality of life in patients with mild dermatomyositis.
research Disorders of Hair
The document's conclusion cannot be provided because the document is not readable or understandable.
research Disorders of Hair
The document's conclusion cannot be provided because the document is not readable or understandable.
research CD98hc (SLC3A2) regulation of skin homeostasis wanes with age
CD98hc's role in skin health decreases with age.
research DecisionDx‐Melanoma and Sentinel Lymph Node Biopsy
research 308-nm Excimer Lamp vs. Combination of 308-nm Excimer Lamp and 10% Liquor Carbonis Detergens in Patients With Scalp Psoriasis: A Randomized, Single-Blinded, Controlled Trial
The combination of the excimer lamp and liquor carbonis detergens is more effective for scalp psoriasis than the lamp alone.
research Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses
Corneodesmosin is crucial for skin and hair health, and its dysfunction can cause skin and hair disorders.
research Sjogren-Larsson syndrome
A boy with Sjogren-Larsson syndrome has skin and muscle symptoms due to a specific enzyme deficiency.
research Treatment of Cystathionine β-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector
MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
research scMC learns biological variation through the alignment of multiple single-cell genomics datasets
scMC effectively separates biological signals from technical noise in single-cell genomics data.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research 17beta Hydroxysteroid Dehydrogenase Type 3 Inhibitors
The document's conclusion cannot be provided because the document is not available or cannot be read.
research Decades of progressive red and yellow nodules
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
research Novel small molecules downregulate CDK1 expression and inhibit Wnt/β-catenin signaling in cutaneous squamous cell carcinoma by targeting its distinct tumor-specific cellular landscape
Small molecules KY19382 and KY19334 may help treat skin cancer by reducing CDK1 levels and blocking harmful cell signals.
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research Cronkhite–Canada syndrome: from clinical features to treatment
There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
research Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency
Consider rare forms of CAH for accurate diagnosis and treatment.
research Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development
Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
research 52711 Benefit of a Selenium Disulfide-based shampoo in subjects of any phototype and hair type presenting with dandruff
Selenium disulfide shampoo effectively reduces dandruff and is well-liked by users.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research Woodhouse-Sakati syndrome (WSS)
The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
research Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
A gene variant causes a skin and hair disorder by disrupting protein balance.
research Essential Fatty Acid Deficiency (EFAD) in a Patient with Vascular Ehlers Danlos Syndrome (EDS-4) (P12-053-19)
A patient with Ehlers-Danlos Syndrome improved after treatment for fat malabsorption and essential fatty acid deficiency.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Potent Efficacy of Computer-Aided Designed Peptide Degrader Drug on PCSK9-Mediated Hypercholesterolemia
Cadd4 effectively reduces cholesterol levels without side effects.