research Non-canonical dimerization of the androgen receptor and other nuclear receptors: implications for human disease
Mutations in certain receptors can cause diseases and offer new treatment options.
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research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Modulation of Hair Growth with Small Molecule Agonists of the Hedgehog Signaling Pathway
Applying a special compound can promote hair growth without harmful side effects.
![Integrating Multi-Omics Analyses of Nonomuraea Dietziae to Reveal the Role of Soybean Oil in [(4′-OH)MeLeu]4-CsA Overproduction](/images/research/0eba9759-3aa4-4a06-a70a-2d9c46be53f3/small/23018.jpg)
research Integrating multi-omics analyses of Nonomuraea dietziae to reveal the role of soybean oil in [(4′-OH)MeLeu]4-CsA overproduction
Adding soybean oil to Nonomuraea dietziae increases production of a beneficial compound by improving metabolism and enzyme systems.
research Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case
Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
research Beyond Expectations
Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Region-specific reversal of epidermal planar polarity in the rosette fancy mouse
Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
research Structure of human steroid 5α-reductase 2 with the anti-androgen drug finasteride
Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH
A genetic mutation in the LIPH gene causes hair loss and growth defects.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
Environmental factors can cause mutations in skin proteins, leading to skin disorders.
research Co-occurrence of monilethrix and Type 1 diabetes mellitus
The girl has both monilethrix and Type 1 diabetes, but no link between the two conditions is known.
research Rare and Underappreciated Causes of Polycystic Ovarian Syndrome
Some lesser-known causes of PCOS include autoimmune issues, genetic mutations, and changes in the body's microbiome.
research Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting
Significant progress was made in understanding PXE, but effective treatments are still needed.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research β1 Integrins with Individually Disrupted Cytoplasmic NPxY Motifs Are Embryonic Lethal but Partially Active in the Epidermis
Mutations in β1 integrins cause embryonic death but have milder effects on skin.
research Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa
Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
research Biotin and biotinidase deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research Phenotyping mice with skin, hair, or nail abnormalities: A systematic approach and methodologies from simple to complex
Understanding genetic variations in mice is crucial for studying skin, hair, or nail abnormalities.
research Visualising Androgen Receptor Activity in Male and Female Mice
Androgen receptors are active in many tissues of both male and female mice, not just reproductive organs.
research Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research Primary Generalized Glucocorticoid Resistance and Hypersensitivity
The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
research Nonclassic adrenal hyperplasia
Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
research Clinical analysis of 78 patients with non-classical 21-hydroxylase deficiency
Low-dose glucocorticoid treatment improves pregnancy and birth rates in women with nonclassical 21-hydroxylase deficiency.
research Aromatase deficiency in a male patient - Case report and review of the literature.
A male with aromatase deficiency improved bone health with estradiol treatment.
research The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion
ARL15 is important for fat cell development and the release of the hormone adiponectin.