research One Transgene: Two Outcomes
Modified β-catenin can cause different effects in mouse skin cells, leading to cysts or tumors depending on the cell type.
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750-780 / 1000+ resultsresearch Future Directions: Gene Polymorphism Diagnostics Relevant to Hair
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Development of Heritable Melanoma in Transgenic Mice
The transgene likely activated an oncogene or interrupted a tumor suppressor gene, causing melanoma in mice.
research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
research Genomewide analysis of copy number variants in alopecia areata in a C entral E uropean cohort reveals association with MCHR 2
MCHR2 gene duplications may be linked to alopecia areata.
research Susceptibility variants for male-pattern baldness on chromosome 20p11
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 ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
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 Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
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 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 Association of Rs231775 Genetic Variant of Cytotoxic T-lymphocyte Associated Protein 4 with Alopecia Areata Disease in Males: A Case–Control Study
The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
research One Transgene: Two Outcomes
Modified β-catenin causes different effects in hair and skin cells, leading to cysts or tumors.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes
Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
research MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants
research Transduction‐induced overexpression of Merkel cell T antigens in human hair follicles induces formation of pathological cell clusters with Merkel cell carcinoma‐like phenotype
Overexpressing Merkel cell virus proteins in human hair follicles can create clusters of cells that resemble Merkel cell cancer.
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 AMPK Phosphorylates ZDHHC13 to Increase MC1R Activity and Suppress Melanomagenesis
AMPK activation may reduce melanoma risk in red-haired individuals.
research HSD3B1 Genotypes Conferring Adrenal-Restrictive and Adrenal-Permissive Phenotypes in Prostate Cancer and Beyond
Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.
research Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (Hrrh-R) in the Hairless Gene (Hr)
A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
research Characterization of Human Keratin-Associated Protein 1 Family Members
Mutations in hKAP1 genes may cause hereditary hair disorders.
research 42761 The elusive BAP1 mutation in pediatric melanocytic tumors
BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
research Genomic Characterization of the Human Type I Cuticular Hair Keratin hHa2 and Identification of an Adjacent Novel Type I Hair Keratin Gene hHa5
research Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia
Combining genetic and physical data improves diagnosis and treatment for early-onset monogenic diabetes.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.