research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
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30 / 1000+ results research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
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 Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research 316 Specialized ribosomes in human dermal fibroblast senescence
Specialized ribosomes affect aging in human skin cells.
research Rps14 upregulation promotes inner ear progenitor proliferation and hair cell regeneration in the neonatal mouse cochlea
Increasing Rps14 helps grow more inner ear cells and repair hearing cells in baby mice.
research Self-Amplifying RNA Approach for Protein Replacement Therapy
Self-amplifying RNA could be a better option for protein replacement therapy with lower doses and lasting effects, but delivering it into cells is still challenging.
research Identification of Pygopus 2 as a component of the ribosomal RNA transcription complex in cancer
Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
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 RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice
A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
research Alopecia Universalis and Chronic Graft-vs-Host Disease Treated With Ruxolitinib
Ruxolitinib may help treat hair loss and symptoms in patients with chronic graft-versus-host disease.
research PKC downregulation upon rapamycin treatment attenuates mitochondrial disease
Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Hemoglobinopathy and Systemic Lupus: A Rare Association
Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
research 944 Non-coding double stranded RNA induces retinoic acid synthesis and retinoid signaling to control regeneration
Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
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 A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
research 487 Exploring ribosomal RNA modifications and corresponding snoRNAs in human skin cell senescence
Understanding snoRNA regulation may help slow skin aging.
research Protein Kinase C Downregulation upon Rapamycin Treatment Attenuates Neuroinflammation and Mitochondrial Disease
Rapamycin treatment helps reduce brain inflammation and symptoms of mitochondrial disease by blocking specific pathways in mice.
research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
research Navigating Rhupus Complexity
Rhupus is a complex syndrome that combines rheumatoid arthritis and lupus, making diagnosis challenging.
research MULTIOMICS – A NEW EXCITING ERA OF RESEARCH
Multiomics is revolutionizing biology by enabling breakthroughs in research and disease diagnosis.
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
research Plants Producing Ribosome-Inactivating Proteins in Traditional Medicine
Some plants used in traditional medicine may help treat cancer because they contain proteins that can inactivate ribosomes.
research Hutchinson-Gilford Progeria Syndrome: Premature Aging
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.