research Hair of the Dog: Identification of a Cis-Regulatory Module Predicted to Influence Canine Coat Composition
Researchers found a genetic region that influences the number of coat layers in dogs.
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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 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 Polymorphism in the A2M Gene Associated with High-Quality Milk in Murrah Buffaloes (Bubalus Bubalis)
Certain genetic variations in the A2M gene are linked to better milk quality in Murrah buffaloes.
research Case Report: Bi-Allelic Missense Variant in the Desmocollin 3 Gene Causes Hypotrichosis and Recurrent Skin Vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research Body Site Heterogeneity and Microbial Diversity Is Lost in Individuals with Hidradenitis Suppurativa
People with Hidradenitis Suppurativa have less diverse skin bacteria and different bacterial metabolism than healthy individuals.
research A New Heterozygous Frameshift Variant in Keratin 10 Resulting in Ichthyosis Hystrix in a Father and Daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
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 Androgen Receptor Genetic Variant Predicts COVID-19 Disease Severity: A Prospective Longitudinal Study of Hospitalized COVID-19 Male Patients
A certain genetic variant in the androgen receptor may predict the severity of COVID-19 in men.
research Single-Cell Transcriptomics Reveals a Senescence-Associated IL-6/CCR6 Axis Driving Radiodermatitis
Blocking certain immune signals can reduce skin damage from radiation therapy.
research Integrated Single-Cell Chromatin and Transcriptomic Analyses of Human Scalp Reveal Etiological Insights Into Genetic Risk for Hair and Skin Disease
The research provided new insights into the genetic factors contributing to hair loss and skin conditions by analyzing individual cells from the human scalp.
research Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis
HLA-DRB5 and other genes may be linked to alopecia universalis.
research Altered Hair Root Gene Expression Profiles Highlight Calcium Signaling and Lipid Metabolism Pathways Associated With Curly Hair Initiation and Maintenance in Mangalitza Pigs
Genes related to calcium signaling and lipid metabolism are important for curly hair in Mangalitza pigs.
research Whole-Genome SNP Genotyping Mapped a Novel Locus for Hereditary Hypotrichosis on Chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center Within the Middle East and North Africa Region
A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
research Cellular and Molecular Characterization of Sebaceous Gland Self-Renewal and Regeneration Following Complete Genetic Ablation
The research found that a protein called PPARg is important for the formation and healing of sebaceous glands, which can regenerate independently from hair follicles.
research Whole Exome Sequencing in Alopecia Areata Patients Identifies a Hotspot Mutation in the Type II Hair Keratin Gene, KRT82
A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype With Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Integrated Single-Cell RNA-Sequencing Data of Unwounded and Wounded Mouse Skin and Fibroblasts
The dataset includes detailed genetic information from mouse skin cells before and after injury.
research Integrated Single-Cell RNA-Sequencing Data of Unwounded and Wounded Mouse Skin and Fibroblasts
The dataset includes detailed genetic information from mouse skin cells before and after injury.
research The Role of Rare Variants in Male-Pattern Hair Loss: Analysis of Whole Exome Sequencing Data in the UK Biobank
Rare genetic variants in 125 genes are linked to male-pattern hair loss.
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.
research Transcriptomic Inspection Revealed a Possible Pathway Regulating the Formation of the High-Quality Brush Hair in Chinese Haimen Goat (Capra Hircus)
Scientists found genes linked to the growth of high-quality brush hair in Chinese Haimen goats.
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 The Role of Candidate Pharmacogenetic Variants in Determining Valproic Acid Efficacy, Toxicity, and Concentrations in Patients with Epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research The Laboratory in the Multidisciplinary Diagnosis of Differences or Disorders of Sex Development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research Host-Microbiome Interactions and Recent Progress in Understanding the Biology of Acne Vulgaris
Acne is linked to complex skin microbe interactions, and new findings suggest microbiome-based treatments could be effective.
research A Novel Monilethrix Mutation in Coil 2A of KRT86 Causing Autosomal Dominant Monilethrix with Incomplete Penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.