November 2025 in “Figshare” SQSTM1 is linked to increased risk of 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.
44 citations
,
May 2023 in “MedComm” PROTAC technology shows promise for cancer treatment but needs more effective E3 ligase recruiters.
8 citations
,
October 2018 in “Dermatologic Therapy” About 41% of Indian hair loss patients have low enzyme activity that affects hair loss treatment effectiveness, with men affected more than women. Testing for this can guide treatment.
Removing SIX1 in fat cells reduces skin fibrosis.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
845 citations
,
February 2001 in “The Journal of Clinical Endocrinology & Metabolism” The enzyme for activating vitamin D is found in many body tissues, not just the kidneys.
July 2025 in “Journal of Investigative Dermatology”
13 citations
,
September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
April 2020 in “The FASEB journal” Poncirin is a promising inhibitor of Janus Kinase 3, potentially better than tofacitinib.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
3 citations
,
February 2025 in “Metabolites” The research found enzymes in Stephania epigaea that help make cepharanthine.
49 citations
,
January 2010 in “Plant and Cell Physiology” LPR1 regulates root growth under low phosphate stress independently of SIZ1 in Arabidopsis thaliana.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
9 citations
,
June 2016 in “Stem cells” Overexpression of sPLA2-IIA in mouse skin reduces hair stem cells and increases cell differentiation through JNK/c-Jun pathway activation.
91 citations
,
March 2021 in “Molecular and Cellular Endocrinology” CYP11A1 is crucial for skin health and disease by producing important steroids.
191 citations
,
November 2007 in “Journal of Biological Chemistry” Very-long-chain acyl-CoA synthetases and fatty acid transport proteins play key roles in fatty acid metabolism and lipid processing in different tissues.
21 citations
,
October 2017 in “Cell death and disease” Sesn2 protects inner ear hair cells from damage by regulating certain cell survival pathways.
28 citations
,
February 2010 in “Experimental Dermatology” The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
3 citations
,
November 2024 in “Egyptian Journal of Medical Human Genetics” SGK1 is important in cancer growth and treatment resistance, and targeting it could improve therapies.
37 citations
,
January 2010 in “Human Molecular Genetics” FTase and GGTase-I are essential for skin keratinocyte health.
5 citations
,
January 2015 in “Molecular Genetics and Metabolism”
1 citations
,
January 1971 in “Acta dermato-venereologica” Mice hair follicles take in the amino acid cystine.
7 citations
,
March 2022 in “Scientific reports” Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.
35 citations
,
July 2010 in “The FEBS journal” The study found a specific peptide that helps detect TGase 3 activity in skin and hair follicles.
38 citations
,
May 1971 in “Clinical genetics” A specific metabolite, not a receptor protein, triggers the production of certain kidney enzymes, but this process is disrupted in mice with a mutation causing testicular feminization.
115 citations
,
March 2001 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Key enzymes control androgen levels, affecting hormone activity and potential treatments.
24 citations
,
May 2019 in “PLOS genetics” Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
1 citations
,
May 2020 in “Beilstein Journal of Organic Chemistry” Scientists made a sensor that can detect a specific type of RNA related to androgen receptors quickly and accurately.