November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
3 citations
,
January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
477 citations
,
March 2004 in “Proceedings of the National Academy of Sciences” The DMI3 gene is essential for nodule development and symbiosis in certain plants.
76 citations
,
January 1998 in “Mammalian Genome”
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” HPV8 E6 gene causes growth of certain skin stem cells.
4 citations
,
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain genetic variation is linked to a higher risk of polycystic ovarian syndrome.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
1 citations
,
October 2020 in “Research Square (Research Square)” A genetic variant in goats is linked to cashmere growth.
5 citations
,
March 2019 in “Journal of lipid research” New probes were created to effectively measure specific enzymes involved in fat metabolism, which could help develop new drugs.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
5 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
12 citations
,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
April 2026 in “npj Parkinson s Disease” VPS13C variants are linked to more severe REM sleep disorder and faster progression to Parkinson's disease.
58 citations
,
June 2018 in “Scientific reports” Researchers found 15 new genetic links to skin traits in Japanese women.
15 citations
,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
November 2006 in “評価・診断に関するシンポジウム講演論文集” KSR1 is crucial for certain skin tumor formation and could be a cancer therapy target.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
1 citations
,
August 2024 in “Animals” KRT85 gene variations can help improve wool traits in sheep through selective breeding.
1 citations
,
April 2025 in “Animals” The KRTAP13-3 gene affects wool fibre diameter variability in Chinese Tan sheep.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
26 citations
,
July 2007 in “Biochemical Pharmacology” ISCK03 stops melanin production in human melanoma cells and lightens skin color in mice and guinea pigs.
14 citations
,
February 2017 in “Scientific Reports” Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
41 citations
,
October 2024 in “Nature Communications” A new wearable LED device helps heal chronic infected wounds at home.
15 citations
,
January 2010 in “Reproduction, Fertility and Development” A certain gene variant may increase the risk of polycystic ovary syndrome in Chinese women.
9 citations
,
August 2013 in “PLOS ONE” Genetic variants at 20p11 increase baldness risk in Chinese Han people.
April 2026 in “The Plant Journal” MYB83 limits root hair growth and helps plants tolerate nutrient deficiencies.
3 citations
,
January 2018 in “Postępy Dermatologii i Alergologii” Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.
2 citations
,
November 2024 in “PLoS ONE” Genomic prediction can improve breeding strategies for Korean Sapsaree dogs.