research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
Search
for
Sort by
Research
810-840 / 1000+ results
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Abnormalities of Purkinje Cell Arborization in Brindled Mouse Cerebellum
Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
research Relative Amounts of Keratin 17 Are Higher Than Those of Keratin 16 in Hair-Follicle-Derived Tumors in Comparison with Nonfollicular Epithelial Skin Tumors
research Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research The genetic evolution of skin squamous cell carcinoma: tumor suppressor identity matters
The type of tumor suppressor gene lost affects the behavior of skin cancer.
research 591 Chromatin architectural protein CTCF regulates terminal keratinocyte differentiation in the developing epidermis and hair follicles
CTCF protein is essential for skin and hair follicle development in mice.
research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
The study found genetic variations in sheep linked to traits like milk production, growth, and health.
research 944 Non-coding double stranded RNA induces retinoic acid synthesis and retinoid signaling to control regeneration
Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
research Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome
A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research The promoter of an androgen dependent gene in the hamster flank organ
Researchers found a gene in hamsters that responds to male hormones and may be indirectly controlled by them.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Index of Suspicion
Early diagnosis and treatment are crucial for complex medical conditions.
research 583 Induction of type 17 collagen decreases ultraviolet b-induced cellular senescence in human htert/ker-ct keratinocytes
Increasing type 17 collagen reduces aging signs in skin cells caused by UV light.
research CYP3A5 Polymorphism in Circulating Tumor Cells Confers an Increased Disease-Free Survival in DLBCL Patients Treated with R-CHOP
A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research Quantitative image analysis for hereditary hair disorders
research Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research A global analysis of CNVs in Chinese indigenous fine-wool sheep populations using whole-genome resequencing
The study found genetic variations in sheep that affect traits like milk production, growth, and health.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Gene profile analysis of colorectal cancer cell lines by cDNA macroarray
Colorectal cancer's ability to spread is due to changes in many genes, not just one.
research Niche work when you can get it: collagen XVII and the melanocyte stem cell
Collagen XVII is crucial for preventing hair and pigmentation loss by maintaining melanocyte stem cells.
research Type XVII collagen coordinates proliferation in the interfollicular epidermis
Type XVII collagen helps control skin cell growth and could be a target for anti-aging treatments.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
research Uterus Hyperplasia and Increased Carcinogen-Induced Tumorigenesis in Mice Carrying a Targeted Mutation of the Chk2 Phosphorylation Site in Brca1
Mice with a specific BRCA1 mutation have a higher risk of tumors, especially in the uterus and ovaries.