research 8507 Misdiagnosis of Graves’ and RAI Treatment in Patient with THRB Gene Mutation
Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.
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270-300 / 1000+ resultsresearch Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Strategies for High-Efficiency Mutation Using the CRISPR/Cas System
Improving CRISPR/Cas systems can make gene editing more efficient and precise.
research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Characterisation of Four New Genes in the Ovine KAP19 Family
Four new genes related to sheep wool were discovered, showing genetic diversity.
research Immune mechanisms associated with sex-based differences in severe COVID-19 clinical outcomes
Females have stronger immune responses to COVID-19 than males, leading to better outcomes.
research Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
research Characterisation of an Ovine Keratin Associated Protein (KAP) Gene, Which Would Produce a Protein Rich in Glycine and Tyrosine, but Lacking in Cysteine
A new sheep gene, KRTAP36-1, may help breed sheep with better wool by reducing prickle factor.
research Genome-wide association study for cashmere traits in Inner Mongolia cashmere goat population reveals new candidate genes and haplotypes
New genes and markers can help breed better cashmere goats.
research Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
Hair follicles can be used to study gene mutations in Stargardt disease.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Sequence Variation in Caprine KRTAP6-2 Affects Cashmere Fiber Diameter
Different versions of the KRTAP6-2 gene in goats can lead to thinner cashmere fibers.
research SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
research Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research Investigation of the association of the MLPH gene with seasonal canine flank alopecia in Rhodesian Ridgeback dogs
The MLPH gene is not linked to seasonal hair loss in Rhodesian Ridgeback dogs.
research Glutathione S-transferase gene polymorphism, total antioxidant status, and blood pressure changes in androgenic alopecia
Gene variations may increase oxidative stress in male pattern baldness.
research Evolution in action: highlighting a role for the Agouti gene in development?
The Agouti gene influences pigmentation and may have a developmental role in deer mice.
research Amino acid–derived defense metabolites from plants: A potential source to facilitate novel antimicrobial development
Plant-derived amino acids can help develop new antimicrobial drugs.
research COVID-19: The question of genetic diversity and therapeutic intervention approaches
COVID-19 treatments and vaccines face challenges due to genetic differences in people and the virus.
research 312 CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells
The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
research 313 Different polyamine levels in the vertex and occipital hair of pattern hair loss patients
People with pattern hair loss have higher polyamine levels in the top of their head compared to the back.
research 316 Specialized ribosomes in human dermal fibroblast senescence
Specialized ribosomes affect aging in human skin cells.
research Retiform Sertoli-Leydig Cell Ovarian Tumour Presenting with Psammoma Bodies: A Rare Case Report
A rare ovarian tumor was successfully treated with surgery and chemotherapy.
research A Clinical Approach to Severe Insulin Resistance
Severe insulin resistance can be managed with medication, lifestyle changes, and treatment for related conditions.
research Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1
Ruxolitinib significantly improves multiple autoimmune conditions in APS-1 patients.
research Acne
Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.
research LO-010 Relationship between the EULAR/ACR classification criteria and organ damage in systemic lupus erythematosus
Higher EULAR/ACR scores in SLE patients predict more organ damage.
research IL-17 axis is a significant driver of skin inflammation in Card14 mutant pityriasis rubra pilaris model mice
Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.
research Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.