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.
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research Valproate‐associated hair abnormalities: Pathophysiology and management strategies
Valproate can cause hair problems, but there are ways to manage them.
research Beta thalassemia revealing hypothyroidism: A case report
Frequent blood transfusions in beta thalassemia can lead to thyroid problems.
research Vitamin B12 levels in patients with chronic telogen effluvium.
People with chronic hair loss may have a higher chance of Vitamin B12 deficiency.
research A case of severe autoimmune hemolytic anemia after a receipt of a first dose of SARS‐CoV‐2 vaccine
An 84-year-old man developed severe anemia after his first COVID-19 vaccine shot, improved with treatment, and was advised against a second dose.
research Metabolic disease with autoimmune phenomena: 2 cases of SLE-like disease in young children diagnosed with lysinuric protein intolerance
Two children with lysinuric protein intolerance showed symptoms similar to lupus.
research Defects in mitochondrial DNA replication and oxidative damage in muscle of mtDNA mutator mice
Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
research Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations
Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
research THE RELATIONSHIPS BETWEEN RUMINAL JUICE, URINE, SERUM AND FECAL ZINC IN EXPERIMENTALLY ZINC DEFICIENT OSSIMI LAMBS
Zinc levels in body fluids can help diagnose zinc deficiency in lambs, with fecal zinc as an early indicator.
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 Hair Growth Defects in Insig-Deficient Mice Caused by Cholesterol Precursor Accumulation and Reversed by Simvastatin
Mice lacking Insig proteins had hair growth problems due to cholesterol buildup, but this was fixed by the drug simvastatin.
research Risk of valproic acid-related alopecia: A systematic review and meta-analysis
Valproic acid increases the risk of hair loss more than other drugs, especially in migraine patients, and lamotrigine may be a safer alternative.
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research Follicular vitiligo: A rare clinical variant of a common entity
Follicular vitiligo causes hair to gray without skin color loss.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research Side effects of sodium valproate during long-term treatment in epilepsy
Long-term sodium valproate treatment for epilepsy generally caused mild and temporary side effects.
research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
research Commonly prescribed medications associated with alopecia
Valproic acid, a common antiepileptic medication, can cause reversible hair loss in patients.
research A failure to relax.
The man had myotonia, which caused delayed hand grip relaxation.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
research Novel association of trichothiodystrophy with autoimmune thyroiditis and autoimmune hemolytic anemia: A case report
A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
research Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
research Biochemical changes and liver tissue pathology in weanling Wistar albino rats with protein-energy malnutrition (PEM).
Low protein diets cause severe health issues in rats, but high protein diets can reverse these effects.
research Novel insights into cardiocutaneous syndromes
Understanding genetics is crucial for treating heart and skin diseases.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Thallium poisoning. Diagnosis may be elusive but alopecia is the clue.
Alopecia is a key indicator of thallium poisoning.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Structural and epistatic regulatory variants cause hallmark white spotting in cattle
Two gene variants cause white spots in cattle.
research A 57-Year-Old Male Retired Colonel with Acute Ankle Swelling
The retired colonel's ankle swelling was caused by a reaction to the antibiotic levofloxacin.