research Cutis Verticis Gyrata Heralding a Diagnosis of Primary Systemic Amyloidosis in a Patient with Cardioembolic Stroke
Recognizing CVG can help diagnose systemic amyloidosis early.
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research Association of single nucleotide polymorphisms in the RAB5B gene 3′UTR region with polycystic ovary syndrome in Chinese Han women
Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
research Evaluation of SARS-CoV-2 entry, inflammation and new therapeutics in human lung tissue cells
A new method using human lung cells helps find drugs to block and reduce inflammation from SARS-CoV-2.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
research Co-operation between follicular ornithine decarboxylase and v-Ha-ras induces spontaneous papillomas and malignant conversion in transgenic skin
High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
research Independent genomewide screens identify the tumor suppressor VTRNA2-1 as a human epiallele responsive to periconceptional environment
The environment around the time of conception can change the VTRNA2-1 gene in a way that lasts for years and may affect disease risk.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Clinical Spectrum and Outcomes of Post-COVID Syndrome Among Adults in Rural Kerala: A Cohort Study
Post-COVID syndrome symptoms are common and overlap with general health issues.
research Cryptoccoccal meningitis in post-covid 19 patient in the city of manaus: Case report
A post-COVID-19 patient in Manaus developed cryptococcal meningitis, highlighting the need for better health education and sanitation.
research HPV8 Field Cancerization in a Transgenic Mouse Model Is due to Lrig1+ Keratinocyte Stem Cell Expansion
HPV8 causes skin cancer by expanding specific skin stem cells.
research Trichodysplasia spinulosa associated with chemotherapy for acute lymphocytic leukaemia
Two boys developed a viral skin infection during chemotherapy, which resolved with improved immune function.
research From bedside to bench: regulation of host factors in SARS-CoV-2 infection
The conclusion is that certain genetic factors and blood types may affect COVID-19 severity, but changes in ACE2 and TMPRSS2 genes are not clearly linked to it.
research Perspectives of Kennedy's disease
Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
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 Exploring in vitro markers of potency of extracellular vesicles from cardiosphere-derived cells in the treatment of cardiac ageing
Potent extracellular vesicles from cardiosphere-derived cells can improve heart health and other functions in aging.
research A protocol for assessment of interventions using a computational phenotype for Long COVID
Long COVID symptoms are common and the new method will help test if remdesivir reduces them.
research The Pathological Changes and Polymorphonuclear and Mast Cell Responses in the Skin of Specific Pathogen‐free Lambs Following Primary and Secondary Challenge with Orf Virus
Lambs' skin showed similar but more severe responses to a second orf virus infection, involving immune cells and new skin formation.
research Analysis of Adverse Drug Reactions in Pediatric Patients with Epilepsy: An Intensive Pharmacovigilance Study
Many pediatric epilepsy patients experience preventable severe adverse drug reactions, especially with certain medications and risk factors.
research Acute generalized exanthematous pustulosis induced by hydroxychloroquine prescribed for COVID-19
A patient developed a severe skin reaction and died after taking hydroxychloroquine for COVID-19.
research Impact of COVID-19 on patients receiving chemotherapy for gynecological cancer
COVID-19 affects patients on chemotherapy for gynecological cancer negatively.
research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research The Human Papillomavirus Type 11 Upstream Regulatory Region Triggers Hair-Follicle-Specific Gene Expression in Transgenic Mice
The HPV type 11 region activates hair-specific gene expression in mice.
research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research Analysis of proliferation, apoptosis and keratin expression in cultured normal and immortalized human buccal keratinocytes
SVpgC2a cells show abnormal growth and keratin changes, modeling early cancer development.
research Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients
The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
research Low neutralizing antibody titers after asymptomatic or non-severe SARS-CoV-2 infection over a 6-month assessment period
People with no symptoms or mild COVID-19 have lower antibody levels, increasing their risk of getting COVID-19 again.
research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research Antiretroviral nucleoside and nucleotide analogues and mitochondria
Some HIV treatments can harm mitochondria, potentially causing side effects like lactic acidosis and nerve damage.
research Merkel cell carcinoma: updates in tumor biology, emerging therapies, and preclinical models
New therapies and trials are needed for Merkel cell carcinoma, a tough skin cancer.
research Hypertensive urgency in a child with focal epilepsy: Is it sodium valproate induced?
Sodium valproate can cause serious high blood pressure in children.