research Clinical Snippets
New treatments for hair growth and psoriasis may be possible, and gene differences could affect baldness and the severity of skin conditions.
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research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
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 A curated catalog of canine and equine keratin genes
61 functional keratin genes were identified in dogs and horses, leading to updated gene annotations.
research Testing the impact of trait prevalence priors in Bayesian-based genetic prediction modeling of human appearance traits
Using trait prevalence priors in genetic prediction models for appearance traits is currently impractical due to limited knowledge and potential accuracy issues.
research Non-invasive human skin transcriptome analysis using mRNA in skin surface lipids
The conclusion is that analyzing RNA from skin oils is a promising way to understand skin diseases.
research Ethanol Patch Test—A Simple and Sensitive Method for Identifying ALDH Phenotype
The ethanol patch test reliably identifies ALDH phenotype.
research The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects
Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
research Male-pattern baldness susceptibility locus at 20p11
Researchers found a new gene area linked to male-pattern baldness, which, along with another gene, significantly increases the risk of hair loss in men.
research From the Microscopic Sweat Gland to Large Datasets: The Power of Quantitative Traits in Dermatology
Using quantitative traits in genetics can improve understanding and management of skin health and conditions.
research A polymorphism in the matrix metalloproteinase-1 gene promoter is associated with the presence of polycystic ovary syndrome in Caucasian women
A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.
research Molecular changes in skin predict predisposition to breast cancer
Skin changes can indicate a risk for breast cancer.
research Distinguishing Mouse Strains by Proteomic Analysis of Pelage Hair
Proteomic analysis can identify genetic differences in mouse hair, helping understand hair defects and variations.
research A homozygous missense mutation in the fibroblast growth factor 5 gene is associated with the long-hair trait in Angora rabbits
A specific gene mutation causes long hair in Angora rabbits.
research Integrated Transcriptome Analysis of lncRNA, miRNA, and mRNA Reveals key Regulatory Modules for Polycystic Ovary Syndrome
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research Molecular studies of Hutchinson-Gilford progeria syndrome
Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
research Identification of Transcripts Commonly Expressed in Both Hematopoietic and Germ-Line Stem Cells
Seven genes are highly expressed in both germ-line and hematopoietic stem cells.
research JAK-centric explainable few-shot gene-expression diagnosis framework for alopecia via MultiPLIER priors and relation-style set-to-set comparison
A new method helps diagnose alopecia areata using specific gene markers and could guide targeted treatments.
research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
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 progress in PLGA-based microneedle-mediated transdermal drug and vaccine delivery
PLGA-based microneedles are promising for safe and effective skin delivery of drugs and vaccines.
research High-content drug screening for rare diseases
High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
research Skin self-photography for dysplastic nevus monitoring is associated with a decrease in the number of biopsies at follow-up: A retrospective analytical study
Taking photos of your own skin can lead to fewer skin biopsies for mole monitoring.
research Transcriptome Sequencing and Mass Spectrometry Reveal Genes Involved in the Non-mendelian Inheritance-Mediated Feather Growth Rate in Chicken
The research found specific genes and proteins that affect how fast chickens' feathers grow, which is not solely determined by traditional inheritance patterns.
research The molecular basis of human keratin disorders
research Investigation of Vaspin and Visfatin -4689G/T Gene Polymorphisms in Alopecia Areata Patients
The visfatin GT genotype may increase the risk of Alopecia Areata.
research The Polycystic Ovary Syndrome Evolutionary Paradox: a Genome-Wide Association Studies–Based, in silico, Evolutionary Explanation
The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.
research Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.