10 citations
,
June 2001 in “Annals of neurology” Alzheimer's patients have higher levels of certain chemicals in their hair.
Variant G of the KRTAP20-1 gene improves wool curliness in Chinese Tan sheep.
175 citations
,
August 1997 in “Nature Genetics” 56 citations
,
January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
January 2004 in “Chinese Journal of Dermatology” Injecting specific oligonucleotides can change hair growth and structure by altering a gene.
37 citations
,
January 1993 in “Journal of Investigative Dermatology” May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
18 citations
,
July 2010 in “Expert Review of Endocrinology & Metabolism” The document concludes that PCOS has a strong genetic component, but more research is needed to fully understand the specific genes involved.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
11 citations
,
June 2012 in “Acta histochemica” Mice with a Gsdma3 gene mutation have thicker skin and longer hair follicle openings due to increased β-catenin levels.
6 citations
,
January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
23 citations
,
October 2008 in “Journal of medicinal chemistry” PF-998425 is a new, effective, and non-phototoxic treatment for skin conditions related to androgens.
10 citations
,
March 2023 in “Journal of Chemistry” New compounds show promise for treating benign prostate hyperplasia with fewer side effects.
21 citations
,
March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
1 citations
,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
195 citations
,
February 2005 in “Journal of biological chemistry/The Journal of biological chemistry” The ZIP7 gene helps control zinc levels in cells by moving zinc from the Golgi apparatus to the cytoplasm.
January 2022 in “Function” Studying rare genetic disorders can help us understand and treat common diseases better.
3 citations
,
April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
30 citations
,
January 2021 in “Journal of Clinical Immunology” FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
September 2020 in “Acta Scientific Cancer Biology” Personalized treatment based on detailed tumor analysis successfully managed and reduced the patient's aggressive hair follicle cancer.
20 citations
,
July 2011 in “PLoS ONE” HPV-150 and HPV-151 are rare skin viruses linked to warts and some skin cancers.
2 citations
,
November 2018 in “Indian Journal of Pharmaceutical Education” The developed model can predict effective 5-alpha-reductase enzyme inhibitors.
2 citations
,
May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
12 citations
,
March 2004 in “Journal of Investigative Dermatology” 13 citations
,
January 2015 in “Steroids” The study created a model to help design new inhibitors for steroidal 5α-reductase enzymes.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
3 citations
,
September 2019 in “PLOS ONE” Genetic variations affect dutasteride treatment response for male pattern hair loss.
148 citations
,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.