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.
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research Physiology and Medical Treatments for Alopecia
Minoxidil, finasteride, and low-level laser light therapy are effective FDA-approved treatments for hair loss.
research Big Head? Bald Head! Skull Expansion: Alternative Model for the Primary Mechanism of Androgenetic Alopecia
The paper suggests that hair loss might be caused by skull growth, not just DHT's effect on hair follicles, and calls for more research.
research Three-Dimensional Reconstructions of Mechanosensory End Organs Suggest a Unifying Mechanism Underlying Dynamic, Light Touch
Dynamic, light touch is sensed through a common mechanism involving Piezo2 channels in sensory axons.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research Bald Thigh Syndrome in Sighthounds: Revisiting the Cause of a Well-Known Disease
Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
research Identification of a Recurrent Nonsense Mutation in HR Gene Responsible for Atrichia with Papular Lesions in Two Kashmiri Families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research SNP Variation in Male Pattern Hair Loss in Russians with Different Dihydrotestosterone Levels
Certain gene variations increase male hair loss risk, influenced by hormone levels.
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.
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 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 A Human Prenatal Skin Cell Atlas Reveals Immune Cell Regulation of Skin Morphogenesis
Immune cells are essential for early hair and skin development and healing.
research Analysis of 72,469 UK Biobank Exomes Links Rare Variants to Male-Pattern Hair Loss
Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.
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.
research Commonly Associated Disorders With Complete Scalp Alopecia in Early Childhood: A Review
Six genetic conditions are often linked to complete scalp hair loss in children.
research Editor's Evaluation: Complementary Evolution of Coding and Noncoding Sequence Underlies Mammalian Hairlessness
Hairlessness in mammals is due to complex genetic changes in both genes and regulatory regions.
research Main Plenary Sessions: Summaries of Papers
UK medical students lack dermatology education, liver biopsy patients with risk factors show more fibrosis, and certain fungi resist drugs due to melanin; genetics may influence female hair loss.
research GABRA2 Alleles Moderate the Subjective Effects of Alcohol, Which Are Attenuated by Finasteride
GABRA2 gene variations impact alcohol response, and hair loss medication finasteride reduces some effects.
research The Epithelial Stem Cell Niche in Skin
Skin's epithelial stem cells are crucial for repair and maintenance, and understanding them could improve treatments for skin problems.
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 The Genetics of Androgenetic Alopecia
Genes and hormones cause hair loss, with four genes contributing equally.
research A Powerful Method for Pleiotropic Analysis Under Composite Null Hypothesis Identifies Novel Shared Loci Between Type 2 Diabetes and Prostate Cancer
New method finds genetic links between Type 2 Diabetes and Prostate Cancer not seen before.
research A Conditional Multi-Trait Sequence GWAS Discovers Pleiotropic Candidate Genes and Variants for Sheep Wool, Skin Wrinkle, and Breech Cover Traits
Researchers found genes and genetic variants linked to sheep wool and skin wrinkles.
research Drivers of Plateau Adaptability in Cashmere Goats Revealed by Genomic and Transcriptomic Analyses
The study found that genetic differences related to hair growth and other traits help cashmere goats adapt to high-altitude environments.
research Familial 1q22 Microduplication Associated With Psychiatric Disorders, Intellectual Disability, and Late-Onset Autoimmune Inflammatory Response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Genome Wide Association Analysis of Root Hair Traits in Rice Reveals Novel Genomic Regions Controlling Epidermal Cell Differentiation
Scientists found new genetic areas that affect how rice root hairs grow and develop.
research Decay of Skin-Specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, leading to their unique scales and skin features.
research Convergent Decay of Skin-Specific Gene Modules in Pangolins
Pangolins have lost some skin-related genes, but kept others, showing complex skin evolution.
research Association Study Reveals a Susceptibility Locus With Male Pattern Baldness in the Han Chinese Population
A specific genetic marker is linked to male pattern baldness in Han Chinese men.
research Multi-Ancestry Tandem Repeat Association Study of Hair Color Using Exome-Wide Sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.