August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
29 citations
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January 2003 in “Genomics” A new mouse mutation causes skin and hair issues, influenced by another gene.
5 citations
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December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
April 2018 in “Journal of Investigative Dermatology” CREB, a protein that can promote cancer traits, is controlled by β-catenin in skin cancer cells.
16 citations
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March 2020 in “Animal Biotechnology” Transgenic sheep embryos with a specific promoter were successfully created, but more research is needed for gene expression in hair follicles.
18 citations
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April 2014 in “Stem cells” The study found stem cells in minor salivary glands that can differentiate and are involved in tumor formation when exposed to tobacco.
13 citations
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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.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
6 citations
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March 2014 in “Livestock science” Researchers created a genetic library from a cashmere goat's skin and found new genes linked to hair growth.
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.
13 citations
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June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
25 citations
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May 2004 in “Prenatal Diagnosis” Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
38 citations
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January 2016 in “Cell Death and Disease” The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
13 citations
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March 1999 in “Biochemical Journal” Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
July 2024 in “Journal of Investigative Dermatology” A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
1 citations
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July 2024 in “New Phytologist” ZmSPL10, ZmSPL14, and ZmSPL26 genes are essential for forming maize structures needed for pollen capture and kernel production.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
January 2015 in “ScholarlyCommons (University of Pennsylvania)” IL-19 and IL-24 help cells respond to DNA damage and could be targeted for cancer and age-related disease treatments.
May 2010 in “Europe PMC (PubMed Central)” Near-infrared probes can safely and effectively image cysteine protease activity for disease diagnosis.
September 2022 in “Piretc” The document discusses the characteristics and creation of British slang words.
July 2024 in “Journal of Investigative Dermatology” ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
Lhx2 is essential for effective Sonic Hedgehog signaling in early retinal development.
August 2023 in “Fermentation” Scientists can use engineered microbes to make L-aspartate and related chemicals, but there's still room to improve their efficiency.
Newly designed proteins can effectively degrade specific proteins in cells, offering a promising alternative for targeted protein degradation.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
April 2025 in “Journal of Diabetes & Metabolic Disorders” Monitoring TGF-β and linc-PINT expression may help identify and treat high-risk heart arrhythmia patients.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.