research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
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450-480 / 1000+ results research scINSIGHT for interpreting single-cell gene expression from biologically heterogeneous data
scINSIGHT helps understand single-cell gene expression better than current methods.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Miscellaneous Exosome Trials
research Ultrahigh-Power Sonicator Lysis Enables Deep Proteomic Profiling of Hair Shafts for Fetal Growth Restriction Biomarker Discovery
A new method improves protein extraction from hair, helping identify potential biomarkers for fetal growth issues.
research De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research Decoding precision medicine in prediabetes: a citespace-based bibliometric analysis of current trends and future directions
Precision medicine is crucial for early diagnosis and personalized treatment in prediabetes.
research Expert Consensus on Big Data Collection of Skin and Appendage Disease Phenotypes in Chinese
research Life Sciences Discovery and Technology Highlights
New technologies show promise in healing wounds, treating cancer, autoimmune diseases, and genetic disorders.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research Devices and genomic therapies
The document's conclusion cannot be provided because the document is not readable or understandable.
research scMC learns biological variation through the alignment of multiple single-cell genomics datasets
scMC effectively separates biological signals from technical noise in single-cell genomics data.
research The role of multiomics in revealing the mechanism of skin repair and regeneration
Multiomics helps understand and improve skin healing and repair.
research Editorial overview: Embroidering the canvas of life
The document emphasizes the importance of ongoing research and ethical considerations in genome editing and cellular reprogramming.
research Proteomics as a tool to improve novel insights into skin diseases: what we know and where we should be going
Proteomics combined with other technologies can lead to a better understanding of skin diseases.
research Whole-genome sequencing of eight goat populations for the detection of selection signatures underlying production and adaptive traits
Researchers identified genes linked to coat color, body size, cashmere production, and high altitude adaptation in goats.
research Whole-genome resequencing to investigate the genetic diversity and the molecular basis underlying key economic traits in indigenous sheep breeds adapted to hypoxic environments
Tibetan sheep have specific genes for high-altitude adaptation and wool traits, aiding breeding strategies.
research Machine learning driven multi-omics analysis of the genetic mechanisms behind the double-coat fleece formation in Hetian sheep
Key genes IRF2BP2 and EGFR are linked to Hetian sheep's double-coat fleece.
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 Human Hair as a Testing Substrate in the Era of Precision Medicine: Potential Role of ‘Omics-Based Approaches
Human hair shows promise for non-invasive medical testing, but more research is needed to standardize its use.
research Pitfalls of PCR-Based Strategy for Genotyping Cre-Loxp Mice
PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
research Evaluation of noninvasive biospecimens for transcriptome studies
Hair follicles and urine cell pellets are promising for transcriptome studies.
research 551 Combining Laser Capture Microdissection and RNAseq Analysis to Generate a Human Anagen Hair Follicle Transcriptome Atlas
Researchers made a detailed map of gene activity for different parts of human hair follicles to help create targeted hair disorder treatments.
research Radiomics and radiogenomics in ovarian cancer: a review with a focus on ultrasound applications
Ultrasound-based radiomics and radiogenomics can improve ovarian cancer diagnosis and treatment, but need better standardization and AI tools.
research 0748 Synergy of TP53 and non-canonical sonic hedgehog pathway in the development of complex basal cell carcinoma
Complex basal cell carcinomas need personalized treatment due to unique genetic mutations.
research Recent advances in Forensic DNA Phenotyping of appearance, ancestry and age
Forensic DNA Phenotyping can now better predict appearance, ancestry, and age from DNA, but more research is needed for precise police use.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region
A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Quantitation of human mitochondrial DNA and whole mtGenomes sequencing of fingernail/hair shaft samples
Mitochondrial DNA from nails and hair can be effectively analyzed for forensic use.