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.
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research ESGCT and FSGT Collaborative Congress Helsinki, Finland September 17–20, 2015 Abstracts
The congress highlighted new gene therapy techniques and cell transplantation methods for treating diseases.
research Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
research Adrenal Cortex Tumors and Hyperplasias
Most adrenal cortex tumors are benign and non-secreting, but proper diagnosis and treatment are important due to the rare possibility of cancer.
research Corneodesmosin: Structure, Function and Involvement in Pathophysiology
Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
research Selected topics in pediatric hair loss
The document concludes that early diagnosis and treatment are key for pediatric hair loss disorders, and addressing the emotional effects on children is important.
research Situation-Specific Purposes and Epistemic Games: A Framework for Teaching the Evaluation of Causal Information
The framework helps people evaluate scientific information for specific needs.
research Enhanced Insights into Frontal Fibrosing Alopecia: Advancements in Pathogenesis Understanding and Management Strategies
Frontal Fibrosing Alopecia needs better diagnostics and treatments, with dutasteride showing promise.
research Multi-omics empowered deep phenotyping of ulcerative colitis
Ulcerative colitis involves immune activation, chronic inflammation, and metabolic issues, some of which persist even during remission.
research Forensic and Legal Medicine
Forensic medicine is crucial for justice and needs continuous innovation and technology integration.
research Alopecia Areata
Understanding the immune-related causes of Alopecia Areata has led to potential treatments like JAK inhibitors.
research Mister XX
Most 46XX CAH patients have female identity, but a few identify as male and may need treatment and surgery.
research Association study between the -866G/A polymorphism in the promoter of uncoupling protein-2 gene and polycystic ovary syndrome
The -866G/A polymorphism in the UCP2 gene is not linked to polycystic ovary syndrome.
research Exploring the association between alopecia areata and thyroid dysfunction: A review
Alopecia areata is linked to thyroid diseases, and thyroid testing may help affected patients.
research Ectodysplasin-A (EDA) Signaling Cross-Talk in Skeletogenesis
The EDA pathway plays a key role in bone development by interacting with other signaling pathways.
research Application and progress of induced pluripotent stem in chronic wound healing: a narrative review
Induced pluripotent stem cells could improve chronic wound healing but face safety and effectiveness challenges.
research From basic biology to engineered therapies: the keratinocyte stem cell playbook
Keratinocyte stem cells are crucial for skin renewal and have potential in wound healing and tissue regeneration.
research Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
research Concomitant acute alopecia and profound bone marrow suppression: An unusual manifestation of azathioprine toxicity
Stopping azathioprine improved hair loss and bone marrow issues.
research Hair follicle gene expression profiling in the SubPopulations and InteRmediate Outcome Measures in COPD Study (SPIROMICS)
Hair follicles can be used to study gene expression and understand conditions like COPD.
research Inhibition of autophagy-lysosomal function exacerbates microglial and monocyte lipid metabolism reprograming and dysfunction after brain injury
Blocking autophagy worsens lipid buildup and dysfunction in brain cells after injury.
research Uveodermatological syndrome in dogs: A review of diagnosis, management, and ophthalmic patient needs
Uveodermatological syndrome in dogs is hard to manage and can lead to blindness despite treatment.
research Correlation and regression analysis of the KRT27 and ELOVL4 genes in cashmere fineness and other production performances in Liaoning cashmere goats
Certain gene combinations improve cashmere quality and production in Liaoning goats.
research Assessment of the impact of VDR polymorphisms on selected hormonal, metabolic and mineral balance markers in young women with hyperandrogenism
VDR gene variations may affect carbohydrate metabolism in young women with hyperandrogenism.
research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
research Treatment of Alopecia Areata and Its Numerous Possibilities: A Literature Review
Alopecia areata treatment should be personalized, using topical or systemic therapies based on severity, with promising options like JAK inhibitors needing more research.
research Type-2 immunity associated with type-1 related skin inflammatory diseases: friend or foe?
Type-2 immunity may influence skin diseases and could be targeted for treatment.
research Research advances of tissue-derived extracellular vesicles in cancers
Tissue-derived extracellular vesicles are crucial for cancer diagnosis, prognosis, and treatment.
research Multi-ancestry tandem repeat association study of hair colour using exome-wide sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
research Vitiligo and Alopecia Areata After Donor Lymphocyte Infusions in a Child With Relapsed Acute Myeloid Leukemia
Donor lymphocyte infusions effectively treated leukemia relapse but caused vitiligo and alopecia areata.