research Clinically relevant aberrant Filip1l DNA methylation detected in a murine model of cutaneous squamous cell carcinoma
Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
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660-690 / 1000+ resultsresearch DSG4 Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case
Genetic testing can diagnose hair loss linked to DSG4 gene variants.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
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 Prioritizing Susceptibility Genes for the Prognosis of Male-pattern Baldness with Transcriptome-wide Association Study
The research identified genes linked to male-pattern baldness and potential drug targets for treatment.
research FGFR2 is associated with hair thickness in Asian populations
A gene variation is linked to hair thickness in Asians.
research Hutchinson-Gilford Progeria Syndrome: Premature Aging
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
research Insight into the pathogensis of polycystic ovarian syndrome
The document's conclusion cannot be provided because the document is not accessible or understandable.
research Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family
research Causal associations between plasma proteins and prostate cancer: a Proteome-Wide Mendelian Randomization
Certain plasma proteins are linked to prostate cancer risk and could help in early detection and treatment.
research Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02
Frontal fibrosing alopecia is linked to four genetic areas, especially the HLA-B*07:02 allele.
research Methylenetetrahydrofolate reductase C677T mutation in patients with alopecia areata in Turkish population
The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.
research Intra-host SARS-CoV-2 single-nucleotide variants emerged during the early stage of COVID-19 pandemic forecast population fixing mutations
Some early COVID-19 mutations in patients predicted future common virus mutations.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
research High-confidence cancer patient stratification through multiomics investigation of DNA repair disorders
CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.
research The molecular basis of human keratin disorders
research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
A specific gene mutation causes varying hair loss severity in a Pakistani family.
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
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 Identifying the Target Cells and Mechanisms of Merkel Cell Polyomavirus Infection
Human dermal fibroblasts are the main cells targeted by a virus that can cause a deadly skin cancer, and a certain inhibitor can effectively block this infection.
research Identification and single-cell analysis of prognostic genes related to mitochondrial and neutrophil extracellular traps in bladder cancer
Six key genes can predict bladder cancer outcomes and may serve as prognostic biomarkers.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research Reduced SMAD2/3 activation independently predicts increased depth of human cutaneous squamous cell carcinoma
Lower SMAD2/3 activation predicts more severe skin cancer.
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 Compilation of a comprehensive gene panel for systematic assessment of genes that govern an individual’s drug responses
Researchers found that most genes affecting drug responses are not fully covered by commercial SNP chips, suggesting the need for more comprehensive tools to optimize drug selection based on genetics.
research Molecular Genetics of Human Hair Diseases
research Genetic disorders of keratin: are scarring alopecias a sub-set?
Keratin mutations may cause scarring alopecia by damaging hair structure.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.