research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
Search
for
Sort by
Research
300-330 / 1000+ results
research Does myo-inositol oxygenase, the only enzyme to catalyze myo-inositol in vivo, play a role in the etiology of polycystic ovarian syndrome?
The enzyme myo-inositol oxygenase is not linked to the cause of polycystic ovarian syndrome.
research Baricitinib as a treatment for myasthenia gravis: A case report
Baricitinib successfully treated myasthenia gravis and alopecia in a patient.
research Hepatitis C ‐related mixed type vitiligo in a patient with I vemark syndrome
A patient with Ivemark syndrome developed mixed type vitiligo after a hepatitis C infection, showing different treatment responses and immune cell involvement in the skin.
research MIXED CONNECTIVE TISSUE DISEASE EVOLVING FROM THE SEQUENTIAL OVERLAP OF SYSTEMIC LUPUS ERYTHEMATOSUS, SJÖGREN’S SYNDROME, RHEUMATOID ARTHRITIS AND DERMATOMYOSITIS: A FOLLOW-UP
Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
research Clinical Usefulness of Non-Invasive Metabolic-Associated Fatty Liver Disease Risk Assessment Methods in Patients with Full-Blown Polycystic Ovary Syndrome in Relation to the MRI Examination with the Ideal IQ Sequence
Lipid Accumulation Product and Free Androgens Index are effective for assessing fatty liver disease risk in women with Polycystic Ovary Syndrome.
research 원저 : 피부근염의 임상적 고찰
Most patients with dermatomyositis had skin rash and were treated with prednisolone and hydroxychloroquine.
research PRMT5 inhibition has a potent anti-tumor activity against adenoid cystic carcinoma of salivary glands
PRMT5 inhibitors effectively fight adenoid cystic carcinoma in salivary glands.
research Analysis of a multiple nuclear dots pattern in a large cohort of dermatological patients.
Anti-MND antibodies are present in various diseases, not just PBC, and their levels don't correlate with disease activity or skin symptoms.
research ODP292 A Xanthomatous Hypophysitis: Always Think Twice Before Pituitary Resection.
Always consider xanthomatous hypophysitis before deciding on pituitary surgery.
research Decade Long Survey of Low-level Laser Therapy/Photobiomodulation (LLLT/PBM) Therapy for Oral Mucositis Treatment
Low-level laser therapy effectively prevents and treats oral mucositis.
research Comparison of Ischemia-modified Albumin and Exercise Stress Test in Stable Angina Pectoris
Ischemia-modified albumin is not effective for diagnosing stable angina compared to exercise stress tests.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research An mTurq2-Col4a1 mouse model allows for live visualization of mammalian basement membrane development
The mTurq2-Col4a1 mouse model shows how the basement membrane develops in live mammals.
research Physiologic functions of PP2A: Lessons from genetically modified mice
Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
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 Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
research Derivation and validation of the Systemic Lupus International Collaborating Clinics classification criteria for systemic lupus erythematosus
The new criteria for classifying lupus are more accurate and comprehensive.
research In vivo multiphoton microscopy imaging of vitiligo (Conference Presentation)
Multiphoton microscopy helps understand and improve vitiligo treatments by visualizing skin cell changes.
research 1367 Inhibition of the mitochondrial pyruvate carrier promotes ATF4–dependent stress responsive metabolic rewiring and cell cycle arrest in the human hair follicle
Blocking a key energy pathway in human hair follicles can trigger stress responses that stop cell growth.
research Dual inhibitors of urease and carbonic anhydrase-II from Iris species
Some natural compounds from Iris plants can block enzymes related to certain disorders, with a few affecting both targeted enzymes.
research A Ca 2+ /calmodulin-dependent protein kinase required for symbiotic nodule development: Gene identification by transcript-based cloning
The DMI3 gene is essential for nodule development and symbiosis in certain plants.
research 576 INTASYL PH-762: Intratumoral immunotherapy targeting PD-1
PH-762 shows promise in treating skin cancer by effectively targeting and silencing PD-1 in tumors with minimal side effects.
research PA13 A hair’s breadth from misdiagnosis
A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
research MG53 Mitigates Nitrogen Mustard-Induced Skin Injury
MG53 helps reduce skin damage caused by nitrogen mustard.
research Carbobenzoxy-capped Phe-Lys(BODIPY TMR-X-acyloxymethyl ketone(QSY7)
Near-infrared probes can safely and effectively image cysteine protease activity for disease diagnosis.
research MULTIPLE HEMANGIOMAS OF THE TONGUE AND ORAL CAVITY IN A MYOTONIC DYSTROPHY TYPE 1 PATIENT: A CASE REPORT
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
research Left ventricular myocardial mass index and its correlates as an early marker of cardiovascular risk among nonobese normotensive Indian women with polycystic ovary syndrome: lessons from a cross-sectional study
Nonobese, normotensive Indian women with PCOS may have a higher risk of heart problems linked to inflammation and insulin resistance.
research Shock: A possible presenting manifestation of autoimmune polyendocrine syndrome type II
Shock can be an early sign of Autoimmune Polyendocrine Syndrome Type II.