research Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
People with PCNT mutations often develop severe insulin resistance and early-onset diabetes during childhood or adolescence.
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research Gender aspects in skin diseases
Men are more likely to get infectious skin diseases, while women are more prone to autoimmune and pigment-related skin conditions, influenced by biological and environmental factors.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research Kin‐cohort analysis of LRRK2‐G2019S penetrance in Parkinson's disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research The Pharmacology of Regenerative Medicine
Regenerative pharmacology, which combines drugs with regenerative medicine, shows promise for repairing damaged body parts and needs more interdisciplinary research.
research Gonadal dysgenesis and bone metabolism
Gonadal dysgenesis, like Turner's and Klinefelter's syndromes, negatively affects bone health, but hormone treatments can help.
research Drug repositioning: current approaches and their implications in the precision medicine era
Drug repositioning is becoming more targeted and efficient with new technologies, offering personalized treatment options and growing interest in the field.
research De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research Fibromodulin reduces scar formation in adult cutaneous wounds by eliciting a fetal-like phenotype
Fibromodulin treatment helps reduce scarring and improves wound healing by making it more like fetal healing.
research Polycystic ovary syndrome is associated with anogenital distance, a marker of prenatal androgen exposure
Women with polycystic ovary syndrome tend to have a longer anogenital distance.
research Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred)
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research Gata6 promotes hair follicle progenitor cell renewal by genome maintenance during proliferation
Gata6 is important for protecting hair growth cells from DNA damage and keeping normal hair growth.
research MicroRNA in skin diseases
Certain microRNAs are linked to various skin diseases and could be used to diagnose and treat these conditions.
research The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis
Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
research Testosterone and the Brain: From Cognition to Autism
Testosterone affects brain functions and contributes to sex differences, influencing conditions like autism.
research Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an aetiological role for autophagy
The research suggests that autophagy-related genes might play a role in causing alopecia areata.
research Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
research Polycystic Ovary Syndrome in Adolescents
The document concludes that diagnosing PCOS in teenagers is difficult and should focus on specific hormone levels and menstrual irregularities, while also considering treatment for symptoms and related health issues.
research The frequency of polycystic ovary syndrome in females with resistant acne vulgaris
Many women with hard-to-treat acne also have PCOS.
research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research New Biomarkers to Evaluate Hyperandrogenemic Women and Hypogonadal Men
The document concludes that hormonal biomarkers are key for diagnosing hyperandrogenemia in women and hypogonadism in men.
research Hyperandrogenism in Adolescent Girls
The conclusion is that a thorough approach is needed to diagnose and manage hyperandrogenism in teenage girls, recognizing its major psychological and health effects.
research Cutaneous Toxicities From Transplantation-Related Medications
Skin problems from transplant drugs are common and need careful management in organ transplant patients.
research Complex genetic dependencies among growth and neurological phenotypes in healthy children: Towards deciphering developmental mechanisms
Genetic factors influence growth and brain development in children.
research A Pilot Study of a Grape Seed Procyanidin Extract for Lung Cancer Chemoprevention
Grape seed extract may safely and effectively help prevent lung cancer.
research Compilation of a comprehensive gene panel for systematic assessment of genes that govern an individual’s drug responses
Researchers found that most genes affecting drug responses are not fully covered by commercial SNP chips, suggesting the need for more comprehensive tools to optimize drug selection based on genetics.
research Molecular basis of androgen action on human sexual desire
Testosterone significantly affects sexual desire in both men and women, but its impact on women is more complex and influenced by psychological factors.
research Recent Advances in Drug Design and Drug Discovery for Androgen- Dependent Diseases
New treatments for prostate cancer and BPH show promise, including novel compounds that target hormone synthesis and response.
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 frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.