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.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
May 2025 in “Proceedings of the National Academy of Sciences” UTX is crucial for skin differentiation and health, especially in females.
November 2024 in “Journal of Investigative Dermatology” Serotonin helps wounds heal faster.
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.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
22 citations
,
November 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Cystatin M/E helps in the final stages of hair and nail formation by controlling certain enzymes.
84 citations
,
June 1970 in “Journal of Investigative Dermatology” 25 citations
,
October 2008 in “Chromatographia” A fast and accurate method was developed to measure alfuzosin and dutasteride in human plasma.
87 citations
,
March 2007 in “Biological Chemistry” Deleting the scd1 gene in mice prevents obesity by disrupting skin lipids and improving heat regulation.
50 citations
,
August 2019 in “Cell Communication and Signaling” NFAT5 triggers atherosclerosis under stress by activating inflammation in blood vessels.
August 2023 in “Journal of inflammation research” An elderly Chinese man lost all his hair after taking a new heart medication.
July 2025 in “New Phytologist” MLO proteins help regulate calcium and ROS levels, promoting root hair growth in Arabidopsis.
6 citations
,
November 2022 in “BMC Urology” Higher levels of miR-1199-5p may reduce the effectiveness of certain prostate treatments.
January 2024 in “International Journal of Biochemistry and Molecular Biology” Hormone levels can help predict metformin treatment success in women with PCOS.
May 2023 in “Zenodo (CERN European Organization for Nuclear Research)” 8 citations
,
January 2012 in “General and Comparative Endocrinology” 5α-Reductase helps regulate hormone action in toad testes, especially during breeding season.
4 citations
,
May 2025 in “npj Parkinson s Disease” PINK1 is important for controlling gut immune responses linked to early Parkinson's disease.
19 citations
,
October 1989 in “PubMed” Minoxidil helps hair growth by being sulfated in hair follicles.
40 citations
,
July 2015 in “Journal of Cellular Biochemistry” Cysteine helps maintain keratin production in skin cells even when iron is low.
1 citations
,
August 2009 in “Mechanisms of Development” January 2025 in “SSRN Electronic Journal” 53 citations
,
August 2010 in “Molecular Carcinogenesis” Slug is crucial for skin health, hair growth, and healing.
October 2009 in “The American Journal of Gastroenterology” Excessive selenium intake can cause liver damage.
3 citations
,
September 2025 in “Plant Signaling & Behavior” Apyrase enzymes control ATP levels in Arabidopsis root growth zones.
26 citations
,
May 2024 in “Molecular Neurodegeneration” H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.
January 2008 in “OhioLink ETD Center (Ohio Library and Information Network)” SARMs work differently in tissues due to unique interactions and structures.
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.
January 2026 in “Figshare”