103 citations,
March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
January 2008 in “US endocrinology” Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.
10 citations,
October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
April 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Sweat gland development involves two unique skin cell programs and a temporary skin environment.
16 citations,
September 2019 in “Journal of biological chemistry/The Journal of biological chemistry” Mice without certain skin enzymes have faster hair growth and bigger eye glands.
March 2009 in “Prenatal Diagnosis” Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
19 citations,
July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.
8 citations,
July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
14 citations,
July 1987 in “Dermatologic Clinics” The document concludes that treating female hair loss should target reducing excess androgen and blocking its effects on hair follicles, with the best treatments being hormonal therapy, adrenal suppression, and topical minoxidil.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
18 citations,
August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
25 citations,
March 2012 in “Journal of Dermatological Science” Genetic variants linked to ten skin diseases were found, showing both immune and non-immune factors play a role.
132 citations,
August 2008 in “Development” Dlx3 is essential for hair growth and regeneration.
87 citations,
January 2016 in “Development” Blocking β-catenin in skin cells improves hair growth during wound healing.
73 citations,
December 2015 in “Nature Genetics” Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
7 citations,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
383 citations,
February 2011 in “Nature Reviews Genetics” DNA profiling in forensics has improved, but predicting physical traits and ancestry from DNA has limitations and requires ethical consideration.
18 citations,
June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” A gene called Gk5 controls lipid production in the skin and affects hair growth.
44 citations,
November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
6 citations,
August 2014 in “Toxicologic pathology” Blocking DGAT1 reduces oil gland size in mice and dogs, but only mice experience hair loss.
February 2024 in “BMC genomics” The TRPV3 gene variant may cause the long-haired suri alpaca coat.
2 citations,
November 2017 in “PloS one” Some vitamin D analogs can thicken skin and reduce pore size like a common acne treatment, with one analog also affecting skin growth factors.
55 citations,
August 2008 in “Reviews in endocrine and metabolic disorders” Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
26 citations,
December 2017 in “Journal of Investigative Dermatology” Disrupting Notch signaling in blood vessels increases scarring during wound healing in mice.
1 citations,
May 2023 in “Frontiers in Pharmacology” Genetic screening for NUDT15 polymorphisms is crucial for patients taking azathioprine, especially in Asians.
38 citations,
November 2020 in “International journal of biochemistry & cell biology” Keratin proteins are essential for keeping the cells in the human colon healthy and stable.
21 citations,
March 2013 in “Cancer Epidemiology, Biomarkers & Prevention” Early-onset baldness is linked to a higher risk of aggressive prostate cancer in African-American men, especially before age 60.
17 citations,
March 2012 in “The Journal of Pathology” In vivo lineage labelling is better than in vitro methods for identifying and understanding stem cells.
207 citations,
March 2012 in “Development” Skin needs dermal β-catenin activity for hair growth and skin cell multiplication.