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.
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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 Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research Polycystic ovary syndrome: Criteria, phenotypes, race and ethnicity
PCOS diagnosis and treatment should consider race and ethnicity for accuracy.
research Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Ottawa, Ontario, Canada, February 13–16, 2013
The document concludes that various findings in rheumatology offer insights into disease severity, treatment responses, and potential risks in medication, with some limitations due to unspecified participant numbers.
research PNKP is required for maintaining the integrity of progenitor cell populations in adult mice
PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
research The Genetics of Human Skin Disease
Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
research The role of AUTS2 in neurodevelopment and human evolution
The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
research Evaluation of DNA Variants Associated with Androgenetic Alopecia and Their Potential to Predict Male Pattern Baldness
DNA variants can predict male pattern baldness, with higher risk scores increasing baldness likelihood.
research Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin
A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
research Ovarian Morphology Is a Marker of Heritable Biochemical Traits in Sisters with Polycystic Ovaries
Polycystic ovarian shape is a genetic sign of PCOS and its hormonal and metabolic features can be inherited.
research The Utility of Metformin Therapy in Reproductive-Aged Women with Polycystic Ovary Syndrome (PCOS)
Metformin helps regulate menstrual cycles, induce ovulation, and improve pregnancy outcomes in women with PCOS.
research Major Histocompatibility Complex Class I Chain-Related Gene A Polymorphisms and Extended Haplotypes Are Associated with Familial Alopecia Areata
Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
research Approach to the Patient: Diagnostic Challenges in the Work Up for Polycystic Ovary Syndrome
Diagnosing PCOS is challenging due to its complex and varied symptoms.
research Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
research Structural and epistatic regulatory variants cause hallmark white spotting in cattle
Two gene variants cause white spots in cattle.
research Evolution and genetic architecture of sex-limited polymorphism in cuckoos
Female cuckoo color differences are linked to their unique genes and help avoid male harassment.
research Author response: Type XVII collagen coordinates proliferation in the interfollicular epidermis
Type XVII collagen helps control skin cell growth and may have anti-aging effects.
research Decision letter: Type XVII collagen coordinates proliferation in the interfollicular epidermis
Type XVII collagen may help prevent skin aging.
research Beyond “Ethnicity” in Dermatology
The editor suggests removing "race" and "ethnicity" from dermatology and creating tools to objectively assess skin color and hair texture.
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 Endocrine care of transpeople part I. A review of cross-sex hormonal treatments, outcomes and adverse effects in transmen
Testosterone therapy is generally safe for transmen, improves sexual function, and has manageable health risks with proper monitoring.
research Curtailing PCOS
Lifestyle changes are the main treatment for PCOS, which is a complex condition requiring early management to reduce its health impacts.
research Significant effects of mild endogenous hormonal changes in humans: considerations for low-dose testing.
Small changes in hormones can significantly impact health, showing the importance of sensitive testing for chemicals that disrupt hormones.
research Unravelling the link between insulin resistance and androgen excess
AKR1C3 could be a treatment target for metabolic issues in PCOS.
research Managing the PCOS-Related Symptoms of Hirsutism, Acne, and Hair Loss
Birth control pills and anti-androgen medications help manage hair growth, acne, and hair loss in women with PCOS.
research Vitamin D and Human Health: Lessons from Vitamin D Receptor Null Mice
Mice without the vitamin D receptor have bone issues and other health problems, suggesting vitamin D is important for preventing various diseases in humans.
research Maternal nutrition at conception modulates DNA methylation of human metastable epialleles
A mother's diet at conception can cause lasting genetic changes in her child.
research Local heroes or villains: tissue-resident memory T cells in human health and disease
Tissue-resident memory T cells can protect against infections and cancer but may also contribute to autoimmune diseases.