research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
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90-120 / 1000+ results research Isolated Linear Discoid Lupus Erythematosus of Scalp Following Lines of Blaschko
Linear Discoid Lupus Erythematosus of the scalp can cause hair loss and should be considered in similar cases.
research Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
research Applications of Human Pluripotent Stem Cell-Derived Skin Organoids in Dermatology
Skin organoids from stem cells can help study and treat skin issues but face some challenges.
research Obesity in Adults: Position Statement of Various Polish Medical Associations
The conclusion is that obesity should be managed with a slow, balanced approach to diet and exercise, with medication and surgery as additional options, and education and access to care are important.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research New Developments in the Molecular Treatment of Ichthyosis: Review of the Literature
New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
research Uncommon Presentation of Pityriasis Rubra Pilaris of the Scalp: Clinical, Trichoscopic, and Histopathologic Features and Review of the Literature
Recognizing scalp symptoms in PRP is crucial for proper diagnosis and treatment.
research The Mechanisms of Fur Development and Color Formation in American Mink Revealed Using Comparative Transcriptomics
The research found specific genes and pathways that control fur development and color in young American minks.
research Erosive Pustular Dermatosis: Delving Into Etiopathogenesis and Management
Topical corticosteroids are the main treatment for Erosive Pustular Dermatosis, but recurrence is common after stopping treatment.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
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 Hairless Gene in Androgenetic Alopecia: Results of a Systematic Mutation Screening and a Family-Based Association Approach
Hairless gene not strongly linked to baldness.
research Safe Selection of Genetically Manipulated Human Primary Keratinocytes with Very High Growth Potential Using CD24
Researchers found a safe and effective way to pick genetically modified skin cells with high growth potential using CD24.
research Obesity and the Skin: Skin Physiology and Skin Manifestations of Obesity
Obesity affects skin health, causing conditions like acanthosis nigricans and may require different treatment approaches.
research Genome-Wide Association Study of Skin Complex Diseases
Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
research CYP21A2 Genotypes Do Not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research Clinical Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment
Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
research Advances in the Treatment of Autosomal Recessive Congenital Ichthyosis: A Look Towards the Repositioning of Drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
research Dynamic Morphogen-p63 Chromatin Interactions That Guide Epigenetic Changes and p63 Activity in Surface Ectoderm Commitment
The study found that p63 needs signals from morphogens to help skin cells differentiate properly.
research The Polycystic Ovary Syndrome: A Position Statement from the European Society of Endocrinology
The European Society of Endocrinology advises individualized long-term management for PCOS, focusing on lifestyle changes, accurate diagnosis, and treatments for associated health risks and symptoms.
research The Current Landscape for Direct-to-Consumer Genetic Testing: Legal, Ethical, and Policy Issues
The document concludes that the fast-growing direct-to-consumer genetic testing market lacks sufficient regulation, posing risks to consumers due to questionable test quality and accuracy.
research Congenital Adrenal Hyperplasia: Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research Delivery of Tissue-Targeted Scalpels: Opportunities and Challenges for In Vivo CRISPR/Cas-Based Genome Editing
Using CRISPR for gene editing in the body is promising but needs better delivery methods to be more efficient and specific.
research The Inflammatory Caspases-1 and -11 Mediate the Pathogenesis of Dermatitis in Sharpin-Deficient Mice
Certain proteins, caspases-1 and -11, are important in the early development of skin inflammation in mice.
research The Influence of Interferon on Healthy and Diseased Skin
Type I interferons play a key role in the development of various skin diseases.
research Diagnostic Approach to Low-Renin Hypertension
Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
research First Symposium of Ichthyosis Experts
Experts met to improve care for ichthyosis patients in Spain.
research Approach to Androgen Excess in Women: Clinical and Biochemical Insights
The document concludes that a systematic approach is crucial to identify causes of androgen excess in women beyond the most common cause, Polycystic ovary syndrome (PCOS).
research Fertility Evaluation of Infertile Women: A Committee Opinion
The conclusion is that women under 35 should start fertility checks after 12 months of trying to conceive, women over 35 after 6 months, and women over 40 should start immediately. The checks should include ovulation status, reproductive tract structure, and male partner's semen evaluation.