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540-570 / 1000+ resultsresearch Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
research De novo assembly and characterization of skin transcriptome using RNAseq in sheep (Ovis aries)
The research helps improve wool quality and aids human hair research.
research Ultrahigh-Power Sonicator Lysis Enables Deep ProteomicProfiling of Hair Shafts for Fetal Growth Restriction Biomarker Discovery
A new method helps find proteins in hair to identify fetal growth issues.
research Advantages of Incomplete Digestion in Human Hair Shaft Proteomics, a Focus on Cuticular Keratins
The new method improves protein extraction and analysis in hair, aiding biomedical and forensic work.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Non-invasive human skin transcriptome analysis using mRNA in skin surface lipids
The conclusion is that analyzing RNA from skin oils is a promising way to understand skin diseases.
research Deciphering gene regulatory programs in mouse embryonic skin through single-cell multiomics analysis
HT-scCAT-seq helps understand gene regulation in embryonic skin development.
research Optimal processing for proteomic genotyping of single human hairs
The method improved hair analysis for better forensic identification.
research Evaluation of noninvasive biospecimens for transcriptome studies
Hair follicles and urine cell pellets are promising for transcriptome studies.
research Compilation of a comprehensive gene panel for systematic assessment of genes that govern an individual’s drug responses
Researchers found that most genes affecting drug responses are not fully covered by commercial SNP chips, suggesting the need for more comprehensive tools to optimize drug selection based on genetics.
research Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes
The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
research Table 1_A partially automated method for DNA extraction from marmoset hair follicles to avoid blood chimerism.xlsx
Researchers created an efficient method to extract DNA from marmoset hair, avoiding blood chimerism.
research Efficient integration of human skin single-cell RNA sequencing data
A comprehensive human skin cell atlas was created to better understand skin biology and disease.
research The post-terminal differentiation fate of RNAs revealed by next-generation sequencing
Hair and nails contain stable RNA, useful for personalized medicine and screening.
research Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing
Low-coverage sequencing is a cost-effective way to identify genes related to wool traits in rabbits.
research Integrated single-cell chromatin and transcriptomic analyses of human scalp reveal etiological insights into genetic risk for hair and skin disease
The research provided new insights into the genetic factors contributing to hair loss and skin conditions by analyzing individual cells from the human scalp.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Genome-wide Target Enrichment-aided Chip Design: a 66 K SNP Chip for Cashmere Goat
Researchers developed a cost-effective 66 K SNP chip for cashmere goats that is accurate and useful for genetic studies.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research scINSIGHT for interpreting single-cell gene expression from biologically heterogeneous data
scINSIGHT helps understand single-cell gene expression better than current methods.
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.
research Efficient integration of human skin single-cell RNA sequencing data
A comprehensive human skin cell atlas was created to better understand skin biology and disease.
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 498 A Multi-Omics Approach to create a Human Hair Atlas for healthy and AGA models
The research aims to better understand hair follicle regulation and find new treatments for hair loss.
research Isolation of sensory hair cell specific exosomes in human perilymph
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research LB1671 Large-scale skin scRNA-seq profiling highlights distinct body site-specific ligand-receptor interactions and pathways in keratinocytes
Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.
research DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.