January 2015 in “DSpace@MIT (Massachusetts Institute of Technology)” PHGDH promotes cancer growth by aiding cell proliferation and tumor progression.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
7 citations
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January 1971 in “Archives of Dermatological Research” 6 citations
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June 1976 in “Journal of Investigative Dermatology” 19 citations
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September 1971 in “Journal of Investigative Dermatology” 258 citations
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July 2005 in “Journal of lipid research” DGAT1 enzyme helps make diacylglycerols, waxes, and retinyl esters.
New pyridine compounds effectively inhibit GSK3, a diabetes treatment target.
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
L-PGDS has specific binding sites for its functions and could help in drug delivery system design.
31 citations
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October 2010 in “Progress in lipid research” LPA3 is crucial for embryo implantation and links LPA to prostaglandin signaling.
June 2023 in “Journal of Biological Chemistry” Get3d protein helps maintain photosynthesis in plants and photosynthetic bacteria.
25 citations
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December 2005 in “Molecular Genetics and Metabolism” Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
The document's conclusion cannot be provided because the document is not available or cannot be read.
124 citations
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November 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” PAD3 plays a key role in hair and skin protein structure and may be linked to skin diseases.
118 citations
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June 1993 in “Journal of Biological Chemistry” Human and mouse TGase3 enzymes are similar but differ near the activation site, crucial for their function in skin and hair development.
46 citations
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August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
5 citations
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July 2014 in “Acta Crystallographica Section D-biological Crystallography” Mutations in the enzyme don't significantly change how it binds to its specific substances.
69 citations
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December 2015 in “BMC plant biology” Three genes in Arabidopsis are important for plant growth and development by affecting sugar attachment to proteins.
30 citations
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August 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” TGase 3 helps build hair structure by forming strong bonds between proteins.
10 citations
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June 2018 in “Journal of visualized experiments” The document concludes that the technique allows for the detection of LDH activity in various tissues, showing where cells are actively metabolizing glucose.
October 2025 in “Proceedings of the National Academy of Sciences” Phospholipids help plant proteins move by regulating receptor interactions.
5 citations
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October 2015 in “The American journal of pathology” Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
216 citations
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June 2015 in “PLANT PHYSIOLOGY” OsPHR3 can help breed rice that efficiently uses phosphate without growth issues.
11 citations
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March 2008 in “Experimental Dermatology” A substance called compound-1 could help increase hair growth by maintaining prostaglandin levels in hair follicles.
35 citations
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July 2010 in “The FEBS journal” The study found a specific peptide that helps detect TGase 3 activity in skin and hair follicles.
15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
10 citations
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September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
9 citations
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February 2002 in “PubMed” A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.