research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
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research Computational Derivation of a Molecular Framework for Hair Follicle Biology from Disease Genes
The research provides a gene-based framework for hair biology, highlighting the Hippo pathway's importance and suggesting links between hair disorders, cancer pathways, and the immune system.
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 Analysis of the Human Diseasome Using Phenotype Similarity Between Common, Genetic, and Infectious Diseases
The study found that diseases can be grouped by symptoms and that the accuracy of predicting disease-related genes varies with the data source.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
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.
research Molecular Dissection of Mesenchymal–Epithelial Interactions in the Hair Follicle
Understanding gene expression in hair follicles can reveal insights into hair growth and disorders.
research Cutaneous and Mucosal Manifestations Associated with Celiac Disease
Celiac disease can cause skin problems that may get better with a gluten-free diet.
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 DrugNet: Network-Based Drug–Disease Prioritization by Integrating Heterogeneous Data
DrugNet effectively identifies new uses for existing drugs and may save resources in drug development.
research Kin-Cohort Analysis of LRRK2-G2019S Penetrance in Parkinson's Disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research No Evidence for THAP1/DYT6 Variants as Disease Modifiers in DYT1 Dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research Prioritizing Susceptibility Genes for the Prognosis of Male-Pattern Baldness With Transcriptome-Wide Association Study
Identified genes linked to male-pattern baldness may help develop new treatments.
research Functional Annotation of Genes Underlying Hair Disorders
The study identified key genes and pathways linked to hair disorders, aiding precision medicine.
research The Genetics of Androgenetic Alopecia
Genes and hormones cause hair loss, with four genes contributing equally.
research Identification of Drug-Disease Associations Using Information of Molecular Structures and Clinical Symptoms via Deep Convolutional Neural Network
A new model can predict drug-disease links well, helping drug research.
research Construction of a cDNA Library and Identification of Genes from Liaoning Cashmere Goat
Researchers created a genetic library from a cashmere goat's skin and found new genes linked to hair growth.
research The Rotterdam Study: 2014 Objectives and Design Update
The Rotterdam Study aims to understand disease causes in the elderly and has found new risk factors and genetic influences on various conditions.
research Clinical Features of Familial Lewy Body Parkinsonism Caused by α-Synuclein Triplication (Iowa Kindred) with Video Documentation
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research Male-Pattern Hair Loss: Comprehensive Identification of the Associated Genes as a Basis for Understanding Pathophysiology
Male-pattern hair loss is largely influenced by genetics, with key genes identified.
research Gene-Knockout Mice With Abnormal Epidermal and Hair Follicular Development
Knocking out certain genes in mice helps understand skin and hair growth problems.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Shedding Light on Cashmere Goat Hair Follicle Biology: From Morphology Analyses to Transcriptomic Landscape
The research found genes that change during cashmere goat hair growth and could help determine the best time to harvest cashmere.
research Mutation in 5′ Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Frontotemporal Dementia with Parkinsonism Presenting as Posterior Cortical Atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Cicatricial Alopecia Research Foundation Meeting, May 2016: Progress Towards the Diagnosis, Treatment, and Cure of Primary Cicatricial Alopecias
The meeting focused on understanding, diagnosing, and finding treatments for irreversible hair loss diseases.
research Primary Cicatricial Alopecias
Early diagnosis and aggressive treatment are key for managing rare scalp disorders that cause permanent hair loss.
research Predicting Human Appearance from DNA for Forensic Investigations
DNA can predict physical traits like eye and hair color accurately, especially in Europeans, but predicting other traits and in diverse populations needs more research.
research Phenotypic Heterogeneity in Human Genetic Diseases: Ultrasensitivity-Mediated Threshold Effects as a Unifying Molecular Mechanism
Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
research A Preliminary Study of Finasteride in Tourette Syndrome
Finasteride reduces Tourette syndrome symptoms, but results may be limited due to potential biases.