research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
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30 / 1000+ results research Multiomics-empowered Deep Phenotyping of Ulcerative Colitis Identifies Biomarker Signatures Reporting Functional Remission States
Microvascular damage and platelet issues persist in ulcerative colitis remission, helping assess disease states.
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 DEEP REINFORCEMENT LEARNING FOR SCALABLE CONTROL OF BOOLEAN MODELS IN THE CONTEXT OF CELLULAR REPROGRAMMING
pbn-STAC effectively finds strategies for cellular reprogramming using deep reinforcement learning.
research Ornithine decarboxylase transgenic mice as a model for human atrichia with papular lesions
ODC transgenic mice can model human hair loss with skin lesions.
research Forensic DNA Phenotyping: a review on SNP panels, genotyping techniques, and prediction models
Forensic DNA phenotyping faces challenges due to inconsistent terminology, limited genetic understanding, and debates over technology and models.
research Folliculitis Decalvans With Frontal Fibrosing Alopecia in a Dark Phototype: Presentation of Folliculitis Decalvans and Lichen Planopilaris Phenotypic Spectrum
Folliculitis Decalvans and Frontal Fibrosing Alopecia can coexist in people with darker skin, showing features of both conditions.
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Case 1: Severe acne – not just skin deep
Severe acne in a young girl may indicate underlying hormonal issues.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research Genomic and phenotypic characterization of Investigator Global Assessment (IGA) scale-based endotypes in atopic dermatitis
Different types of atopic dermatitis were linked to specific genetic and immune changes, suggesting that severe cases might need stronger immune-targeting treatments.
research Human Macrophages Preferentially Infiltrate the Superficial Adipose Tissue
Human body's immune cells are more common in the layer of fat just beneath the skin than in deeper fat layers.
research Deep Hair Phenomics: Implications in Endocrinology, Development, and Aging
A new tool can analyze hair to detect changes due to hormones, genetics, and aging.
research Isolation of epithelial stem cells from dermis by a three-dimensional culture system
Researchers isolated a new type of stem cell from mouse skin that can renew itself and turn into multiple cell types.
research Forensic DNA phenotyping: a review on SNP panels, genotyping techniques, and prediction models
Forensic DNA phenotyping faces challenges like inconsistent terms and limited genetic knowledge.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Beauty is skin deep: the fascinating biology of the epidermis and its appendages.
The biology of skin and hair is complex and not fully understood.
research From Misdiagnosis to Targeted Therapy: A Case Report of Folliculitis Decalvans and Lichen Planopilaris Phenotypic Spectrum
Accurate diagnosis is crucial for effective treatment of similar hair loss conditions.
research Predicting Physical Appearance from Low Template: State of the Art and Future Perspectives
Machine learning improves DNA predictions for eye and hair color, but challenges remain for skin tone and facial features.
research PandaOmics: An AI-Driven Platform for Therapeutic Target and Biomarker Discovery
PandaOmics uses AI to find new disease treatment targets and biomarkers.
research Exploring machine learning strategies for single-cell transcriptomic analysis in wound healing
Machine learning and single-cell analysis improve understanding and treatment of wound healing.
research Knowledge Mapping of Drug Repositioning’s Theme and Development
Drug repositioning can save time and money but needs more support.
research Biomaterial-based mechanical regulation facilitates scarless wound healing with functional skin appendage regeneration
Biomaterials can help heal wounds without scars and regenerate skin features.
research Penetration and Distribution in Human Skin Focusing on the Hair Follicle
Targeting drugs to hair follicles can treat skin conditions, but reaching deep follicle areas is hard and needs more research.
research Clonal expansion from standing genetic variation underpins the evolution of an emerging plant pathogen in Australia
The plant pathogen in Australia evolves through existing genetic variation, not new genotypes.
research Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
research British Society for Paediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Montagna Symposium 2017—Precision Dermatology: Next Generation Prevention, Diagnosis, and Treatment
The symposium highlighted the importance of understanding disease mechanisms for targeted dermatology treatments.
research Recent Understandings of Biology, Prophylaxis and Treatment Strategies for Hypertrophic Scars and Keloids
The document concludes that the understanding of scar formation is incomplete and current prevention and treatment for hypertrophic scars and keloids are not fully effective.
research Skin aging: are adipocytes the next target?
Targeting dermal adipocytes may help combat skin aging.