research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
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810-840 / 1000+ resultsresearch Intricate diagnosis due to falsely elevated testosterone levels by immunoassay
Confirm testosterone levels with advanced tests to avoid unnecessary procedures.
research Integrative Proteo‐Transcriptomic Characterization of Androgenetic Alopecia Identifying ME1 ‐Mediated PPAR Signaling as a Potential Mediator
ME1 and PPAR signaling may influence hair loss in androgenetic alopecia.
research Changes in the proteomic profile of adipose tissue-derived mesenchymal stem cells during passages
Adipose stem cells show common protein changes as they grow, especially involving S100A6.
research Non-invasive monitoring of low molecular weight biomarkers relevant to skin inflammation and cancer
Non-invasive methods can effectively monitor skin inflammation and cancer biomarkers.
research The proteomic profile of hair damage
Bleaching hair damages protein structure, especially keratin, leading to weakened hair.
research Discrimination between basal cell carcinoma and hair follicles in skin tissue sections by Raman micro-spectroscopy
Raman micro-spectroscopy can help distinguish basal cell carcinoma from hair follicles in skin tissue.
research Developing Optical Biometrics Using Optical Coherence Tomography for Medical Screening and Diagnosis
OCT can effectively screen and diagnose various medical conditions non-invasively.
research A machine learning approach for non-invasive PCOS diagnosis from ultrasound and clinical features
Machine learning can accurately diagnose PCOS non-invasively using clinical and ultrasound features.
research Studies on the Proteome of Human Hair - Identification of Histones and Deamidated Keratins
Human hair contains diverse proteins, including keratins and histones, which could help assess hair health and aging.
research Improved trichoscopic assessment of yellow dots using Sub-Ultraviolet Light
research Improved trichoscopic assessment of yellow dots using Sub-Ultraviolet Light
research Rule-out test for autism using machine-learning analysis of molecular temporal dynamics in hair - a multicenter study
A machine-learning test using hair can help detect autism early in infants.
research An Updated Nomenclature for Keratin-Associated Proteins (KAPs)
The document introduced a new naming system for keratin-associated proteins to improve clarity and communication across species.
research Role of S-Palmitoylation by ZDHHC13 in Mitochondrial function and Metabolism in Liver
ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research Skin image analysis for detection and quantitative assessment of dermatitis, vitiligo and alopecia areata lesions: a systematic literature review
Computer vision techniques can help detect and assess skin conditions like vitiligo, alopecia areata, and dermatitis.
research Single-Administration Long-Acting Microarray Patch with Ultrahigh Loading Capacity and Multiple Releases of Thermally Stable Antibodies
A new patch can deliver stable antibodies over time for potential HIV treatment.
research Chemical Fingerprint and Quantitative Analysis for the Quality Evaluation of Platycladi cacumen by Ultra-performance Liquid Chromatography Coupled with Hierarchical Cluster Analysis
The new method is rapid, sensitive, and accurate for evaluating the quality of the medicinal herb Platycladi cacumen.
research The Hair Cell Analysis Toolbox: A machine learning-based whole cochlea analysis pipeline
The Hair Cell Analysis Toolbox automates and improves the analysis of cochlear hair cells using machine learning.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Two-Stage Machine Learning-Based GWAS for Wool Traits in Central Anatolian Merino Sheep
Machine learning can effectively identify genes to improve wool quality in sheep.
research Unraveling Evolutionary Insights into AVT Peptide Conservation and Antimicrobial Motif Prediction Across Taxa
AVT is highly conserved and may have antimicrobial properties.
research Multimodal profiling reveals site-specific adaptation and tissue residency hallmarks of γδ T cells across organs in mice
γδ T cells adapt uniquely to different tissues in mice.
research Direct quantitative digital autoradiography of testosterone metabolites in the pilosebaceous unit: an environmentally advantageous trace radioactive technology
The method accurately measures testosterone metabolites with high sensitivity and low environmental impact.
research Data Sheet 1_A partially automated method for DNA extraction from marmoset hair follicles to avoid blood chimerism.docx
Researchers created an efficient method to extract DNA from marmoset hair, reducing blood chimerism.
research A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
research Detection of urine metabolites in polycystic ovary syndrome by UPLC triple-TOF-MS
Researchers found potential urine markers for polycystic ovary syndrome, including testosterone-glucuronide and 11α-hydroxyprogesterone, which may help diagnose the condition.
research Major Histocompatibility Complex Class I Chain-Related Gene A Polymorphisms and Extended Haplotypes Are Associated with Familial Alopecia Areata
Certain genetic markers, especially the MICA gene, are linked to alopecia areata.