research Overexpression of Hoxc13 in differentiating keratinocytes results in downregulation of a novel hair keratin gene cluster and alopecia
Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
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research Regulation of Mitochondrial Oxidative Metabolism by Tumor Suppressor FLCN
The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
research CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia
The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
research Signal integrator function of CXXC5 in Cancer
CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
research A new mutation Rim3 resembling Re den is mapped close to retinoic acid receptor alpha (Rara) gene on mouse Chromosome 11
research ROBERTSONIAN TRANSLOCATION PATIENT WITH RECURRENT MISCARRIAGE
Robertsonian translocation can cause recurrent miscarriages.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research Transgenic mice display hair loss and regrowth overexpressing mutant Hr gene
Mice with a changed Hr gene lose and regrow hair due to changes in the gene's activity.
research Data_Sheet_1_Disruption of Hars2 in Cochlear Hair Cells Causes Progressive Mitochondrial Dysfunction and Hearing Loss in Mice.docx
Disrupting the Hars2 gene in mice causes hearing loss due to mitochondrial problems and hair cell damage.
research Loss of TET2 Tips the Scales Toward Tumorigenesis
Loss of TET2 increases the risk of skin and oral cancer.
research Significance of the polyglutamine tract polymorphism in the androgen receptor
The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
research Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes
The study mapped keratin 15 and 19 genes, aiding future genetic disorder research.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Abstract 4385: Live-imaging the interface between homeostasis and cancer initiation
Mutant cells in hair follicles are influenced by their location and interactions with surrounding cells.
research Identification of novel mutation in theHRgene responsible for atrichia with papular lesions in a Pakistani family
Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
research Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
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.
research Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice
Methionine restriction works better than betaine for treating CBS deficiency symptoms in mice.
research Discreet monilethrix: De novo mutation on the example of polish families
A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
research Emergence of hereditary hyperplastic gingivitis in Newfoundland and Labrador, Canada: an exploration into the molecular aetiology at both the gene and genome levels
Hereditary hyperplastic gingivitis in silver foxes may be linked to errors in the MAPK signaling pathway, influenced by androgens.
research Keratins and skin disease
Keratin mutations cause skin diseases and could lead to new treatments.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research https://researchopenworld.com/genetics-of-hidradenitis-suppurativa/#
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
research Unique amino acid signatures that are evolutionarily conserved distinguish simple-type, epidermal and hair keratins
Different keratin types have unique amino acid patterns that are evolutionarily conserved.
research Overexpression of spermidine/spermine N1-acetyltransferase under the control of mouse metallothionein I promoter in transgenic mice: evidence for a striking post-transcriptional regulation of transgene expression by a polyamine analogue
Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
research KRT16 wt Allele
Mutations in the KRT16 gene can cause skin and nail disorders.
research 783 Influence of TNF gene polymorphism in patients with acute and fulminnant hepatitis
research 898 Homeostatic activation of epidermal HSD11b1 affects skin innervation and non-histaminergic itch
HSD11b1 affects skin nerves and increases non-histaminergic itch.
research Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer
Certain genetic variants increase the risk of aggressive prostate cancer.