research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
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390-420 / 1000+ results research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene causes monilethrix in a Han family.
research 642 Uncovering the role of UV exposure history and genetics in determining skin sun damage
UV photography can help identify people at higher risk for skin cancer, and male pattern baldness at age 45 is linked to a higher risk of certain skin cancers.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research 646 SOX4 is essential for melanoma tumorigenesis
SOX4 is crucial for the development of melanoma.
research An in vivo method for the detection of somatic mutations at the cellular level in mice
A new method can detect mutations in mice by observing changes in hair follicle cells.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28
Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
research A mutation in MAP2 is associated with prenatal hair follicle density
A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
research Distinct mutations in human basic hair keratins 1 and 6 cause monilethrix: Implications for protein structure and clinical phenotype
research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
research Spontaneous Squamous Cell Carcinoma Induced by the Somatic Inactivation of Retinoblastoma and Trp53 Tumor Suppressors
Inactivating both p53 and Rb genes in mice speeds up aggressive skin cancer development.
research Ox40-Cre–mediated deletion of BRD4 reveals an unexpected phenotype of hair follicle stem cells in alopecia
Deleting the BRD4 protein in certain skin cells causes hair loss and skin inflammation.
research Genetic analysis of the role of androgen metabolism in the pathogenesis of prostate cancer
Certain genetic markers can indicate a person's risk of developing prostate cancer.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
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.
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.
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
A gene mutation causes monilethrix in a Chinese family.
research 341 ANDROGENETIC ALOPECIA AT VARIOUS AGES AND PROSTATE CANCER RISK IN AN EQUAL ACCESS MULTIETHNIC CASE CONTROL SERIES OF VETERANS
Early baldness increases prostate cancer risk, radiotherapy and surgery have similar second cancer rates, and ALA may reduce prostate cancer risk.
research Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk
Researchers found 71 genetic regions linked to male pattern baldness, which account for 38% of its genetic risk.
research Novel mutation in PTCH1 gene in a patient with basal cell nevus syndrome and uterus bicornis
research Expression of a truncated form of hHb1 hair keratin in human breast carcinomas
Truncated hHb1 keratin may play a role in breast cancer cell transformation.
research A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)
Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
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 Male pattern baldness and risk of colorectal neoplasia
Men with certain types of baldness at age 45 may have a higher risk of colon cancer and colorectal adenoma.
research Linear and Unilateral Basaloid Follicular Hamartoma Along Blaschko’s Lines in an Elderly Patient: A Rare Presentation
A rare skin condition was identified and planned for treatment in an elderly man.
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 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.