March 2025 in “OncoTargets and Therapy” A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
December 2023 in “International Journal of Dermatology”
76 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
47 citations
,
February 1998 in “Journal of bone and mineral research” A specific gene mutation causes vitamin D-resistant rickets and hair loss.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
6 citations
,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
41 citations
,
April 2016 in “Journal of experimental botany” RACB in barley is crucial for cell polarity and nucleus positioning, aiding fungal infection.
6 citations
,
November 2017 in “Scientific reports” The R343H mutation in the VDR gene causes vitamin D-resistant rickets with alopecia by impairing specific gene activity.
2 citations
,
September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
1 citations
,
September 2021 in “Cureus” The rs1128977 gene variant may affect cholesterol and body measurements.
Certain gene variations and different levels of BDNF and CRH hormones are linked to vitiligo.
1 citations
,
August 2019 in “Journal of Investigative Dermatology” PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.
November 2023 in “Biomolecules” The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
November 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” DAB labeling effectively identifies collagen type III and PDGFR in horse skin, but may show false positives.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
4 citations
,
August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
64 citations
,
August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
1 citations
,
July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
March 2026 in “Preprints.org” DRDE-07 shows promise for treating skin diseases due to its favorable properties.
40 citations
,
January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
12 citations
,
December 2013 in “Immunological Investigations” The SNP rs6457452 is linked to a higher risk of alopecia areata in Koreans.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
64 citations
,
March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” GPRC5D is linked to the formation of hair, nails, and certain tongue areas.
1 citations
,
October 2024 in “Medicina” CLEC4D gene variants may increase the risk of alopecia areata in Jordanians.
March 2026 in “World Rabbit Science” DKK4 can be used to improve wool quality in Zhexi Angora rabbits.
June 2020 in “Jurnal Penyakit Dalam Indonesia” Anti-DFS70 antibodies can help identify nonsystemic autoimmune conditions in SLE patients.
April 2024 in “The Journal of urology/The journal of urology” SRD5A2 methylation in blood can predict how well someone will respond to finasteride treatment.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.