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.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
143 citations
,
May 2002 in “PubMed” LGD1069 effectively prevents breast tumors in mice without toxicity.
37 citations
,
January 2008 in “Gynecological Endocrinology” Shorter CAG repeats in a specific gene may increase male hormone activity and symptoms like acne and excess hair in women with PCOS.
January 2020 in “Columbia Academic Commons (Columbia University)” Certain genetic changes in the STX17 and KRT82 genes contribute to hair loss in alopecia areata.
8 citations
,
December 2022 in “International journal of molecular sciences” Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
13 citations
,
June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
9 citations
,
February 2022 in “Nature communications” Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
47 citations
,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
6 citations
,
February 2013 in “Medical Oncology” Certain genetic variants increase the risk of resistance to hormone therapy in prostate cancer patients.
35 citations
,
August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
13 citations
,
November 2018 in “Animal Genetics” A new gene variant causes curly coats in some dog breeds.
3 citations
,
April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
March 2025 in “Laboratory Investigation” Mesothelioma of the tunica vaginalis testis is rare, often high-grade, and has a median survival of about 24 months.
13 citations
,
January 2013 in “Applied and Environmental Microbiology” A gene in Sebekia benihana, CYP-sb21, is needed for a specific reaction on the drug Cyclosporine A, which could be important for hair growth without affecting the immune system.
5 citations
,
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
95 citations
,
February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
40 citations
,
January 2013 in “Frontiers in Endocrinology” Finger length ratios are not linked to the number of specific gene repeats affecting testosterone sensitivity.
55 citations
,
June 2014 in “Nature Communications” Tcf3 helps cells move and heal wounds by controlling lipocalin 2.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet1/2/3 enzymes affect hair follicle cell development by influencing BMP signaling.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
November 2025 in “Journal of Investigative Dermatology” Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
5 citations
,
October 2014 in “Gynecological Endocrinology” Triptorelin helps evaluate hormone production in Sertoli-Leydig cell tumors.
29 citations
,
June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
4 citations
,
September 2019 in “Biomedical Papers/Biomedical Papers of the Faculty of Medicine of Palacký University, Olomouc Czech Republic” CD2 might be a new treatment target for patchy alopecia areata.
119 citations
,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
January 2019 in “Spectrum Research Repository (Concordia University)” Topiramate impairs gene transmission in zebrafish, while Ginkgo biloba reduces harmful effects of high β-catenin levels.