research Characterisation of Four New Genes in the Ovine KAP19 Family
Four new genes related to sheep wool were discovered, showing genetic diversity.
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research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research Thiopurines: Recent Topics and Their Role in the Treatment of Inflammatory Bowel Diseases
Thiopurines help treat IBD but require genetic testing to avoid side effects.
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 GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts
Three genes linked to the development of trichilemmal cysts were found.
research Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations
Researchers made a mouse model with curly hair and hair loss by editing a gene.
research Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1 ‐deficient Jack Russell Terriers and response to topical ceramide
Topical ceramide treatment partially improves the skin condition in Jack Russell Terriers with a genetic skin disorder.
research Polymorphism of genes in patients with new coronavirus infection COVID-19
Genetic differences affect COVID-19 severity and treatment effectiveness.
research Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD)
C-scores can help predict gain-of-function and loss-of-function mutations.
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 A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research LB1011 Oncogenic ras mutation induces spatiotemporally specific tissue deformation through converting fluctuated into sustained ERK activation
A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
research A Study on the Clinical Profile and Pharmacogenetics of Methotrexate Treatment in Patients with Rheumatoid Arthritis.
The 1298CC genotype in RA patients leads to higher methotrexate toxicity, while the 1298AA genotype results in better treatment response.
research Histopathological Analysis on keratin2-6 g Expression in Hair Mutant Mouse Hague
Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
research Abstract C4: Sp2: A regulator of stem cell differentiation and tumorigenesis
Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
research Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype
The TRPV3 gene variant may cause the long-haired suri alpaca coat.
research A Population of Radio-Resistant Macrophages in the Deep Myenteric Plexus Contributes to Postoperative Ileus Via Toll-Like Receptor 3 Signaling
Certain immune cells worsen post-surgery gut paralysis by activating a specific immune response.
research Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a U2HR mutation
A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
research Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
research Hypomorphic mutation in the hairless gene accelerates pruritic atopic skin caused by feeding a special diet to mice
A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
research ROBO4 deletion ameliorates PAF-mediated skin inflammation via regulating the mRNA translation efficiency of LPCAT1/LPCAT2 and the expression of PAF receptor
Removing the ROBO4 gene in mice reduces skin inflammation and hair loss by affecting certain inflammation pathways and gene expression.
research Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome
Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
research Two mouse mutations mapped to chromosome 11 with differing morphologies but similar progressive inflammatory alopecia
Two mouse mutations cause similar hair loss despite different skin changes.
research Influence of Myosin Regulatory Light Chain and Myosin Light Chain Kinase on the Physiological Function of Inner Ear Hair Cells
NM2 and RLC phosphorylation are essential for normal inner ear hair cell function.
research Recurrent Pregnancy Loss Associated Cytogenetic and Genetic Anomalies – Study from Eastern India
Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.
research Genetic deletion of TNFα inhibits ultraviolet radiation-induced development of cutaneous squamous cell carcinomas in PKCε transgenic mice via inhibition of cell survival signals
Deleting TNFα gene reduces skin cancer risk in certain mice.
research Skin regional specification and higher-order HoxC regulation
A specific DNA duplication in Polish chickens affects feather shape by altering gene expression.
research Characters of KRT80 and its roles in neoplasms diseases
KRT80 may worsen cancer by increasing growth and spread, but its full effects on treatment and outcomes need more research.
research Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report
Researchers found a gene mutation responsible for a rare hair loss condition.