research Molecular Analysis of a Series of Israeli Families with Comèl-Netherton Syndrome
Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
Search
for
Sort by
Research
540-570 / 1000+ results
research Mapping Human Skin: One Sequenced Cell at a Time
The article concludes that creating a detailed map of normal human skin at the single-cell level is important.
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.
research Effects of Hair dyes on Sequence Analysis of Hair Mitochondrial DNA Hypervariable Region 1
Hair dyes affect DNA analysis results, with the prepFiler kit working best for hair with follicles.
research The Region Coding for the Helix Termination Motif and the Adjacent Intron 6 of the Human Type I Hair Keratin Gene hHa2 Contains Three Natural, Closely Spaced Polymorphic Sites
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 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 Development of a DNA-analytical Method for the Identification of Animal Hair Fibers in Textiles
Researchers developed a new method to identify animal hair in textiles, which is effective for various fibers and more reliable than previous methods.
research Forensic DNA Phenotyping
Forensic DNA Phenotyping accurately predicts physical traits and is used in investigations, but needs more diverse population data for confirmation.
research Future Directions: Gene Polymorphism Diagnostics Relevant to Hair
research A partially automated method for DNA extraction from marmoset hair follicles to avoid blood chimerism
The method effectively extracts high-quality DNA from marmoset hair, avoiding blood chimerism.
research DNA Microarrays in Dermatology and Skin Biology
DNA microarrays help study skin diseases and biology, leading to advancements in understanding and treatment.
research Disease-dependent accessibility of hair follicle compartments revealed by tape-strip transcriptomics
Tape-strip RNA sequencing can better detect inflammation in hair follicles for alopecia areata.
research High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research Simultaneous Typing of Erythrocyte Acid Phosphatase, Adenylate Kinase and Adenosine Deaminase in Human Hair Root Sheaths
Hair root sheaths can be used to accurately analyze genetic markers.
research Genomic Portraiture: The Science and Ethics of DNA Phenotyping in Identity Prediction
DNA phenotyping can predict physical traits like eye, hair, and skin color, improving forensic investigations.
research FORENSIC DNA PHENOTYPING FOR CRIMINAL IDENTIFICATION
Forensic DNA phenotyping can now predict more physical traits and ancestry from DNA, but further improvements are needed.
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 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 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 DNA phenotyping: current application in forensic science
DNA phenotyping helps predict physical traits from DNA with varying accuracy and requires careful ethical and legal handling.
research Wavelength-encoded laser particles for massively-multiplexed cell tagging
New laser particles can track thousands of cells in 3D models, improving single-cell analysis.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research QuantAnts machines discover biomarkers for RAS signaling activation and design sgRNAs for CRISPR to target complex CD9, CD34, and CD74.
The QuantAnts machines can find cancer markers and create CRISPR targets for them.
research An evaluation of the RapidHIT™ ID system for hair roots stained with Diamond™ Nucleic Acid Dye
The RapidHIT ID system can effectively get DNA profiles from hair roots with enough cells.
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 Forensic DNA phenotyping: A promising tool to predict human appearance for forensic purposes
Forensic DNA phenotyping is becoming useful for predicting physical traits in criminal investigations but is limited by ethical concerns and incomplete genetic understanding.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research Application of PCR Technique to Detect Polymorphism of the KRTAP1.1 Gene in Three Sheep Breeds - A Review
The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.
research Investigation of Transcriptional Gene Profiling in Normal Murine Hair Follicular Substructures Using Next-Generation Sequencing to Provide Potential Insights into Skin Disease
Hair follicles have a more inactive cell cycle than other skin cells, which may help develop targeted therapies for skin diseases and cancer.