research Myodegeneration in EDA-A2 Transgenic Mice Is Prevented by XEDAR Deficiency
XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
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330-360 / 1000+ resultsresearch 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 The oestrogen receptor 2 (ESR2) gene in female-pattern hair loss: replication of association with rs10137185 in German patients
ESR2 gene linked to female-pattern hair loss.
research Deep phenotyping of skin tissue remodeling in patients with systemic sclerosis treated with CD19-CAR T cells
CD19-CAR T cell therapy may help regenerate skin in systemic sclerosis.
research Exploring differential gene expression and biomarker potential in systemic lupus erythematosus: a retrospective study
FCER1A and RGS1 may help diagnose and treat systemic lupus erythematosus.
research Role of the soluble epoxide hydrolase in the hair follicle stem cell homeostasis and hair growth
The enzyme sEH is important for hair growth and its inhibition could help treat hair loss.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Isolation and characterization of genomic clones of human sequences presumably coding for hair cysteine-rich proteins
A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.
research Expression of dermcidin in sebocytes supports a role for sebum in the constitutive innate defense of human skin
Sebum helps protect human skin from microbes.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
research 559 Induction of tissue-specific premature stem cell aging promotes senescence-like phenotypes in remote multiple organs
Aging in one type of stem cell can cause aging-like changes in various organs.
research Hidradenitis suppurativa secondary to treatment with a gamma secretase inhibitor
A man developed skin lesions as a side effect of a gamma secretase inhibitor used for treating a tumor.
research Lrig1 Expression in Human Sebaceous Gland Tumors
Lrig1 could be a marker for advanced sebaceous carcinoma.
research Incorporation of Selenium-75 into Dog Hair
Selenium-75 stays in dog hair for up to 316 days.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Production of artificial synthetic spidroin gene 4S-transgenic cloned sheep embryos using somatic cell nuclear transfer
Transgenic sheep embryos with a specific promoter were successfully created, but more research is needed for gene expression in hair follicles.
research The integrated stress response fine-tunes stem cell fate decisions upon serine deprivation and tissue injury
Serine is vital for hair follicle stem cells to balance hair growth and skin repair.
research Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination
The ASIP gene is crucial for determining cattle coat color.
research signatureSearch: environment for gene expression signature searching and functional interpretation
The package helps analyze and interpret gene expression data by comparing it to a database of conditions.
research Decision letter: The signaling lipid sphingosine 1-phosphate regulates mechanical pain
Sphingosine 1-phosphate helps control mechanical pain.
research MSC-derived sEV-loaded hyaluronan hydrogel promotes scarless skin healing by immunomodulation in a large skin wound model
A special gel helps heal skin wounds without scars by calming the immune response.
research 0873 Modeling junctional epidermolysis bullosa using tissue-engineered skin substitutes
Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
research Sulfotransferases, sulfatases and formylglycine-generating enzymes: a sulfation fascination
The document concludes that understanding sulfation biology is crucial for creating treatments due to its importance in biological functions and disease.
research Transglutaminase-3, an esophageal cancer-related gene
Transglutaminase-3 is often reduced in esophageal cancer.
research Distinct use of super-enhancer elements controls cell type–specific CD25 transcription and function
Super-enhancers control CD25 expression in specific cell types, affecting immune function.
research Abstract 2469: Increased cathepsin B expression in cultured tuberous sclerosis skin tumor cells and patient tumor tissues
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research Mesenchymal stem cells and their secretome - candidates for safe and effective therapy for systemic lupus erythematosus
Mesenchymal stem cells and their secretome may offer a safe and effective treatment for systemic lupus erythematosus.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.