research Lamellar Ichthyosis with Pseudoexon Activation in the Transglutaminase 1 Gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
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research Novel Mutations of the ABCA12, KRT1 and ST14 Genes in Three Unrelated Newborns Showing Congenital Ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
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 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 Mixing the Old with the New: Drug Repurposing for Immune Deficiency in the Era of Precision Medicine and Pediatric Genomics
Using old drugs for new uses can help treat rare immune deficiencies.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
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.
research Uncharted Waters: The Impact of NGS and Machine Learning on Forensic Science
New DNA analysis and machine learning are advancing forensic science, improving accuracy and expanding into non-human applications.
research Novel Insights to Assess Climate Resilience in Goats Using a Holistic Approach of Skin-Based Advanced NGS Technologies
Heat stress changes goats' skin and hair at the microscopic level and affects their genes and skin bacteria.
research Solid Lipid Nanoparticles of Fenugreek Seed Extract in a Dermatological Base for Alopecia: An In Vivo Study
Fenugreek seed extract in nanoparticles effectively promotes hair growth.
research Prediction of Gain-of-Function and Loss-of-Function Mutations Using Combined Annotation Dependent Depletion
C-scores can help predict gain-of-function and loss-of-function mutations.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Clinical Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment
Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
research Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient
The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.
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 Implication of Human Bacterial Gut Microbiota on Immune-Mediated and Autoimmune Dermatological Diseases and Their Comorbidities: A Narrative Review
An imbalance in gut bacteria is linked to skin immune diseases and may affect their outcomes and related health issues.
research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm
New gene identification techniques have improved the understanding and classification of inherited hair disorders.
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 Comprehensive Transcriptome Profiling Between Balding and Non-Balding Scalp of Female Pattern Hair Loss in Asian
The research suggests that SFRP2 and PTGDS proteins might be indicators of female pattern hair loss and could contribute to hair loss.
research Topical Delivery of Fenugreek Seed Extract Loaded Solid Lipid Nanoparticles Based Hydrogels for Alopecia
Fenugreek seed extract in a nanoparticle gel could be a promising new treatment for hair loss.
research Dermatological Diseases from a Genetic Perspective
New gene discoveries have improved diagnosis and treatment for skin and hair disorders, but more research is needed to fully understand them.
research Generation of Trichogenic Adipose-Derived Stem Cells by Expression of Three Factors
Scientists made stem cells that can grow hair by adding three specific factors to them.
research Autofluorescence as a Signal to Sort Developing Glandular Trichomes by Flow Cytometry
Autofluorescence can sort plant cells without labeling.
research Deer Antler Products in the Comprehensive Treatment of Androgenetic Alopecia
Deer antler products improved hair growth and thickness for people with hair loss.
research Proteomic Analysis Identifies Differentially Expressed Proteins Participating in Forming Type III Brush Hair in Yangtze River Delta White Goat
Researchers found four key proteins that affect the development of a specific hair type in Yangtze River Delta white goats.
research Identifying Molecular Targets for Reverse Aging Using Integrated Network Analysis of Transcriptomic and Epigenomic Changes During Aging
Curcumin may help reverse aging by targeting specific genes.
research Skin Keratins
Keratins are important for skin cell health and their problems can cause diseases.
research Two Novel BTD Mutations Causing Profound Biotinidase Deficiency in a Chinese Patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Comprehensive Transcriptome Profiling Between Balding and Non-Balding Scalp of Female Pattern Hair Loss in Asian
SFRP2 and PTGDS may be key factors in female hair loss.
research Recent Advances in the Genetics of Alopecia Areata
New research has found 14 genes linked to the risk of developing alopecia areata, improving understanding and treatment options.