research Molecular genetics of androgen insensitivity
Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
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450-480 / 1000+ results research The Tissue-dependent Keratin 19 Gene Transcription Is Regulated by GKLF/KLF4 and Sp1
GKLF/KLF4 and Sp1 control Keratin 19 gene activity, influencing cancer-related changes.
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 Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
research Pioneer factors govern super-enhancer dynamics in stem cell plasticity and lineage choice
Super-enhancers controlled by pioneer factors like SOX9 are crucial for stem cell adaptability and identity.
research Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis
Trps1 is essential for proper hair follicle development.
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 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 Genome-Wide Association Study for Udder Conformation Traits in Chinese Holstein Cattle
Certain genes affect udder shape in Holstein cows, important for health and milk production.
research Association between SQSTM1 dysregulation and risk in alopecia areata: a Mendelian randomization study
SQSTM1 gene issues may increase the risk of alopecia areata.
research 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa
Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
research A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix
A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
research 1351 Investigation of the molecular identity of the junctional zone in human
GATA6 is important for maintaining and differentiating cells in a key area of human skin.
research GLI2-specific Transcriptional Activation of the Bone Morphogenetic Protein/Activin Antagonist Follistatin in Human Epidermal Cells
GLI2 increases follistatin production in human skin cells.
research 898 Homeostatic activation of epidermal HSD11b1 affects skin innervation and non-histaminergic itch
HSD11b1 affects skin nerves and increases non-histaminergic itch.
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 Construction of the coexpression network involved in the pathogenesis of thyroid eye disease via bioinformatics analysis
Key genes and pathways involved in thyroid eye disease were identified, aiding potential treatment and diagnosis.
research Sequence Data and Chromosomal Localization of Human Type I and Type II Hair Keratin Genes
Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
research Isolation and characterization of a sheep cysteine-rich cuticle keratin pseudogene
Researchers found a non-functional sheep keratin gene due to mutations.
research Overexpression of human keratin 16 produces a distinct skin phenotype in transgenic mouse skin
High levels of human keratin 16 in mice cause skin lesions and abnormal skin development.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research FOXN1 Italian founder mutation in Indian family: Implications in prenatal diagnosis
A rare genetic mutation found in an Indian family can be detected through prenatal screening.
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 Genetic effects of vascular endothelial growth factor and its receptor 2 on feather maturity in three chicken breeds
VEGF and VEGFR-2 genes influence feather maturity, and specific genetic markers can improve chicken breeding.
research FOXE1, A New Transcriptional Target of GLI2 Is Expressed in Human Epidermis and Basal Cell Carcinoma
research Identification of differentially expressed genes HSPC016 in dermal papilla cells with aggregative behavior
HSPC016 gene is important for hair growth.
research Acromegaloidism with normal growth hormone secretion associated with X-Tetrasomy
A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
research TMPRSS2: A Key Host Factor in SARS-CoV-2 Infection and Potential Therapeutic Target
TMPRSS2 is crucial for COVID-19 infection and is a potential target for treatment.
research Constitutive activation of S tat3 in mouse epidermis is linked to hair deficiency and cytoskeletal network damage
Overactive Stat3 in mouse skin causes hair loss and cell structure damage.
research Identification and single-cell analysis of prognostic genes related to mitochondrial and neutrophil extracellular traps in bladder cancer
Six key genes can predict bladder cancer outcomes and may serve as prognostic biomarkers.