research Mapping of a novel locus for keratosis follicularis squamosa on chromosome 7p14.3–7p12.1
A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
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300-330 / 1000+ results research Hair Defects and Pup Loss in Mice with Targeted Deletion of the First Cut Repeat Domain of theCux/CDPHomeoprotein Gene
Deleting part of a gene in mice causes wavy hair and high pup loss.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research Granulomatous skin involvement in a patient with an unusual NOD2 mutation
A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.
research In vivo alteration of the keratin 17 gene in hair follicles by oligonucleotide‐directed gene targeting
Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
research 0749 Serine and arginine-rich splicing factor 3 regulates epidermal differentiation in cutaneous squamous cell carcinoma
research A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
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 Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease
Researchers found two new genetic variants linked to Alzheimer's disease.
research Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Skin abnormalities generated by temporally controlled RXRα mutations in mouse epidermis
RXRα is crucial for hair growth and skin cell function.
research Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep
Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
research Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice
A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report
Mutations in the LIPH gene cause woolly hair in a child.
research Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene
A mouse gene mutation increases the risk of skin cancer.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research High-resolution structures of mutants of residues that affect access to the ligand-binding cavity of human lipocalin-type prostaglandin D synthase
Mutations in the enzyme don't significantly change how it binds to its specific substances.
research HR Gene Variants Identified in Mexican Patients with Alopecia Areata
A specific gene variant may increase the risk of developing Alopecia Areata.
research Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotide
research Transgenic HPV11-E2 protein modulates URR activity in vivo
The E2 protein affects gene activity in hair follicles of mice.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
research HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease
The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
research Androgen Receptor Mutations and Polymorphisms in African American Prostate Cancer
African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Postzygotic KRAS G12C mutation, associated with various malignancies, is also underling epidermal nevus syndrome
A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.