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.
Search
for
Sort by
Research
120-150 / 432 results 
research Genetic Transformation of Keratoacanthoma-Type Cutaneous Squamous Cell Carcinoma Following Intralesional Chemotherapy
Intralesional chemotherapy with 5-fluorouracil and methotrexate may worsen keratoacanthoma-type skin cancer in transplant patients.
research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research 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 A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
research Navigating Diagnostic Uncertainty: Frontal Fibrosing Alopecia Versus Keratosis Pilaris Atrophicans Faciei With Genetic Testing Insights
Genetic testing can help diagnose skin conditions but needs more research for full effectiveness.
research Actinic Keratosis: Risk Factors, Clinical Diagnosis, and Therapeutic Aspects. Part I
Actinic keratosis is a sun-induced skin condition that can potentially turn into skin cancer and requires various treatments to prevent this.
research Actinic Keratosis: Risk Factors, Clinical Diagnosis, and Therapeutic Aspects. Part I
Actinic keratosis is a sun-induced skin condition that can potentially turn into skin cancer and requires treatment to prevent malignancy.
research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Nutraceuticals Known to Promote Hair Growth Do Not Interfere With the Inhibitory Action of Tamoxifen in MCF7, T47D and BT483 Breast Cancer Cell Lines
Nutraceuticals that promote hair growth do not reduce tamoxifen's effectiveness in breast cancer treatment.
research Signaling Pathways and Targeted Therapeutic Strategies for Polycystic Ovary Syndrome
Effective PCOS treatments require targeting specific signaling pathways.
research IV International Symposium of Student Scientific Circles: Environment - Plant - Animal - Product Abstracts
Custom skincare can be made based on genes, fewer cats in Lublin have FeLV/FIV than national average, and studies also looked at small water bodies, river pollution, guppy growth, toxins in biochars, palm oil issues, and pumpkin seed oil for hair strength.
research Myotonic Dystrophy Type 1: Enhancing Patient Management Through Genetic and Multisystem Studies
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research Identification of a Novel Homozygous LAMB3 Mutation in a Chinese Male With Junctional Epidermolysis Bullosa and Severe Urethra Stenosis: A Case Report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Proteins Observed in Scalp Hair from Preschool Children
Mothers have more hair proteins than their children, with age-related differences in protein patterns, and some proteins in hair could indicate early childhood development.
research 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 Molecular Genetic Dissection of ILVEN Leads to Successful Targeted Therapy
Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
research Specialized Ribosomes in Human Dermal Fibroblast Senescence
Specialized ribosomes affect aging in human skin cells.
research Expression of Nidogen1 in Basal Cell Carcinoma
Higher levels of nidogen1 and type IV collagen are found in basal cell carcinoma compared to normal skin.
research cAMP Response Element-Binding Protein 1 (CREB) Is a β-Catenin-Regulated Transcription Factor in Squamous Cell Carcinoma (SCC) Cells
CREB, a protein that can promote cancer traits, is controlled by β-catenin in skin cancer cells.
research Mutational Landscape of Extramammary Paget Disease
The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.
research Analysis of Mice Skin Distribution Using MALDI-MSI After Subcutaneous Injections of a Potent Novel Peptide Hair Growth Promoter, FOL-005
FOL-005, a hair growth promoter, acts locally on mouse skin where injected and could be a promising hair loss treatment.
research References
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Issue Information - Table of Contents: April 2016 Journal of the European Academy of Dermatology and Venereology
The April 2016 JEADV issue covered various dermatology topics, including psoriasis, psoriatic arthritis, mTOR inhibitors, autoimmune diseases, photodynamic therapy, viral DNA in skin diseases, chronic hand eczema, and female hair loss.
research Odd-Looking Hair and Progressive Alopecia in Mother and Son
Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
research Type 2 Diabetes, Metabolic Syndrome, and Lipid Metabolism
Type 2 diabetes in youth is increasing, with high treatment failure rates and more severe than Type 1; certain drugs can lower lipid levels effectively with varying side effects, and apples may benefit heart health like statins but with fewer side effects.
research ILDS Newsletter No. 29: Efforts to Improve Lives of Patients with Albinism in Sub-Saharan Africa
The ILDS Newsletter reported on efforts to support albinism patients in Tanzania and dermatological conferences.
research The Genetics of Autism and Steroid-Related Traits in Prenatal and Postnatal Life
Autism's genetics are linked with early age of puberty and less hair loss, but not with hormone levels or polycystic ovary syndrome.