Cadd4 effectively reduces cholesterol levels without side effects.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
2 citations
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June 2013 in “Journal of Clinical Pathology” The LMNA mutation affects skin structure even in asymptomatic carriers.
5 citations
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May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
Lhx2 helps retinal cells respond to signals for eye development.
28 citations
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May 2015 in “Molecular Neurobiology” LSD1 is crucial for regenerating hair cells in zebrafish.
11 citations
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July 2015 in “Journal of Anatomy” SLVs help maintain muscle stretch sensitivity and could aid in treating hypertension and muscle spasticity.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
July 2025 in “Journal of Investigative Dermatology” July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
The protein's size was reduced, but more work is needed to confirm its function.
14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
March 2021 in “Research Square (Research Square)” The SbbHLH85 protein helps sweet sorghum grow more root hairs but makes the plant more sensitive to salt.
February 2024 in “Plant Cell Reports” AtVPS29 is essential for proper plant growth by regulating gibberellin signaling.
November 2023 in “Scientific reports” The research identified and described a gene important for hormone conversion in endangered catfish, which varies in activity during different reproductive stages and after hormone treatment.
January 2009 in “Xumu shouyi xuebao” Sheep cells were successfully modified to include a spider silk protein gene.
9 citations
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July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
305 citations
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March 2008 in “AJP Endocrinology and Metabolism” SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
16 citations
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January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
23 citations
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August 1983 in “PubMed” Clq deficiency is linked to systemic lupus erythematosus symptoms.
32 citations
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August 2020 in “American Journal Of Pathology” S100A4 promotes aggressive ovarian cancer and is a potential treatment target.
November 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” Melatonin may treat rosacea and Alzheimer's by reducing inflammation and affecting blood vessel growth.
January 2026 in “Biomolecules” TSC22D genes are key in metabolic diseases and cancer, offering potential as treatment targets.
10 citations
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November 2023 in “Science Immunology” Super-enhancers control CD25 expression in specific cell types, affecting immune function.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
146 citations
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May 2002 in “The American journal of pathology” Cathepsin L is essential for normal hair growth and development.
82 citations
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January 2011 in “New Phytologist” VILLIN4 helps root hair growth by organizing actin with calcium.
March 2024 in “Research Square (Research Square)” The TT genotype of a specific SNP in sheep is linked to better wool quality.
1 citations
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June 2015 in “Journal of anatomy” A compound named ZCZ90 can increase muscle spindle firing, potentially helping treat muscle spasms and hypertension.