research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
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420-450 / 1000+ resultsresearch [Lupus cystitis and peritonitis successfully treated with intravenous cyclophosphamide pulse therapy: a case report].
Intravenous cyclophosphamide effectively treated steroid-resistant lupus cystitis and peritonitis.
research Increased lactate dehydrogenase activity is dispensable in squamous carcinoma cells of origin
High lactate dehydrogenase activity is not necessary for the growth of squamous cell carcinoma.
research Therapeutic Efficacy of Spironolactone for Central Serous Chorioretinopathy
Spironolactone helps reduce fluid in the eye in Central Serous Chorioretinopathy, but doesn't improve vision and recurrence is common.
research A Case of 300 Pound Weight Loss, Malabsorption, Malnutrition and Protein Losing Enteropathy Due to Systemic Lupus Erythematosis of the Small Intestine
Recognizing lupus as a cause of severe gut issues is crucial for effective treatment.
research A Case of Trichothiodystrophy with a Low Sulfur Level in the Hair Shafts
research Pulse cyclophospamide in severe lupus nephritis: Southern Indian experience
IV cyclophosphamide effectively treated severe lupus nephritis in Indian patients, but longer follow-up is needed.
research LUPUS AROUND THE WORLD Clinical and immunological manifestations in 151 SLE patients living in Dubai
SLE symptoms in Dubai are similar to those in other Arab and Western countries.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Systemic lupus erythematosus : from diagnosis to prognosis
Current SLE classifications need refinement, and the complement system is a key therapeutic target.
research Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome KATPChannel Mutations in Intact Cells
Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
research THE IMPORTANCE OF TRANS-ESOPHAGEAL ECHOCARDIOGRAPHY IN DIAGNOSING LIBMAN-SACKS ENDOCARDITIS IN SYSTEMIC LUPUS ERYTHEMATOSUS: A CASE REPORT
Trans-esophageal echocardiography is crucial for accurately diagnosing heart issues in lupus patients.
research Solid Lipid Nanoparticles (SLN): Method, Characterization and Applications
Solid lipid nanoparticles are promising for delivering various drugs and improving treatment effectiveness.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research Author response: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research RNA-Seq Reveals the Roles of Long Non-Coding RNAs (lncRNAs) in Cashmere Fiber Production Performance of Cashmere Goats in China
lncRNAs influence cashmere fiber traits like diameter and color in goats.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Pengaruh Variasi Konsentrasi Sodium Lauril Sulfat Sebagai Surfaktan Pada Sampo Ekstrak Etanol Daun Randu (Ceiba Petandra Gaertn) Terhadap Sifat Fisik Yang Dihasilkan
The shampoo with 10% SLS had the best physical properties.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Single nucleotide polymorphisms associated with elevated alanine aminotransferase in patients receiving asunaprevir plus daclatasvir combination therapy for chronic hepatitis C
Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
research Novel D323G mutation of DSG 4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix
A new DSG4 gene mutation causes hair defects in a young girl.
research OA08 Ocrelizumab in pregnancy in a patient with juvenile onset systemic lupus erythematosus
Ocrelizumab helped control lupus in a pregnant patient, leading to the birth of a healthy baby.
research Penggunaan Simplex Lattice Design (SLD) dalam Optimasi HPMC dan Propilen Glikol Formula Gel Cinchonine Sebagai antibakteri Cutibacterium acnes (C.Acne)
The optimized Cinchonine gel effectively fights acne bacteria and is safe for twice-daily use.
research Ionizable Coenzyme‐Engineered Lipid/Fiber Microplexes Boost Ribosomal Translation to Improve mRNA Therapy for Degenerative Diseases
New lipid/fiber microplexes improve mRNA therapy for degenerative diseases by enhancing cell function and treatment effectiveness.
research Multibacillary leprosy with positive serology misdiagnosed as systemic lupus erythematosus
A woman was wrongly diagnosed with lupus but actually had leprosy.
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 scINSIGHT for interpreting single-cell gene expression from biologically heterogeneous data
scINSIGHT helps understand single-cell gene expression better than current methods.
research Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.