7 citations,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
5 citations,
November 2022 in “Genetics selection evolution” Low-coverage sequencing is a cost-effective way to find genetic factors affecting rabbit wool traits.
5 citations,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.
5 citations,
September 2012 in “Journal of Investigative Dermatology” Scientists can mimic hair disorders by altering genes in lab-grown human hair follicles, but these follicles lack some features of natural ones.
3 citations,
March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
3 citations,
July 1990 in “Acta dermato-venereologica” A man's baldness improved possibly due to a medication that blocks male hormones.
2 citations,
August 2020 in “Scientific reports” Genes related to keratin, skin cell differentiation, and immune functions are key in hedgehog skin and spine development.
2 citations,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
1 citations,
April 2024 in “Science Advances” Female cuckoo color differences are linked to their unique genes and help avoid male harassment.
1 citations,
October 2023 in “Journal of personalized medicine” Food intake, not genetics, affects how the body processes tadalafil and finasteride.
1 citations,
June 2023 in “Genes” Hair loss from Alopecia Areata is caused by both genes and environment, with several treatments available but challenges in cost and relapse remain.
1 citations,
March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Low-coverage sequencing is a cost-effective way to identify genes related to wool traits in rabbits.
1 citations,
January 2022 in “Springer eBooks” 1 citations,
September 2019 in “Practica medicală” Hair loss is linked to heart disease and metabolic syndrome, and while current treatments vary in effectiveness, more research is needed for better solutions.
1 citations,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
June 2024 in “Research Square (Research Square)” Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
January 2022 in “Cellular and Molecular Biology” Adding Triamcinolone to the anesthetic can reduce swelling after hair transplants, and using Platelet-Rich Plasma can improve hair thickness and patient satisfaction. The SRD5A2 gene also plays a key role in the success of hair transplants.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The study found that certain genes are important for hedgehog skin appendage development and immunity, with spines possibly evolving for protection and infection resistance.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
December 2016 in “Int J Genet” Male pattern baldness is partly caused by specific genes, but most genetic factors are still unknown.
January 2006 in “Chinese Journal of Dermatology” 244 citations,
September 2008 in “Annual Review of Genomics and Human Genetics” The document concludes that the fast-growing direct-to-consumer genetic testing market lacks sufficient regulation, posing risks to consumers due to questionable test quality and accuracy.
103 citations,
October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
22 citations,
September 2014 in “JAMA dermatology” Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
21 citations,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
12 citations,
January 1987 in “Ophthalmic Paediatrics and Genetics” Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
2 citations,
October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” The DNA of ancient Koreans from the Three Kingdoms period shows a mix of northern Chinese and Japanese-Jomon ancestry, revealing two distinct genetic groups.
2 citations,
October 2021 in “Skin health and disease” No significant link between male pattern baldness and COVID-19 severity was found.
1 citations,
April 2024 in “Indian Journal of Pharmacy Practice” Autoimmune skin disorders are caused by genetic and environmental factors and are treated with various medications and preventative strategies.