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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.
The balance between cell renewal and differentiation controls the growth of cancerous cells in mouse skin.
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June 2018 in “The journal of immunology/The Journal of immunology” AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
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September 2017 in “Medicine” A patient with Cronkhite-Canada Syndrome developed colon cancer that spread to the liver, showing the need for regular cancer checks in such patients.
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August 2017 in “British Journal of Dermatology” Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
November 2023 in “Biomolecules” The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
September 2018 in “Journal of the American Academy of Dermatology” Elderly patients with CCCA were all African American with low vitamin D, but no iron or zinc deficiencies, and no hormonal imbalances compared to younger patients.
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
May 2026 in “ACS Catalysis” Efficient enzyme function relies on specific residue interactions and structural coordination.
January 2010 in “China Animal Husbandry & Veterinary Medicine” RORs may influence cashmere growth cycles.
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February 2008 in “Cancer Research” Inactivating both p53 and Rb genes in mice speeds up aggressive skin cancer development.
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June 2004 in “Journal of Investigative Dermatology” Involucrin gene expression is controlled by specific proteins and signaling pathways.
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March 2019 in “The EMBO Journal” FERONIA and LRX proteins help control cell growth in plants by regulating vacuole expansion.
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December 2019 in “Al-ʻulūm al-ṣaydalāniyyaẗ” The CTLA-4 gene change studied does not affect Polycystic Ovarian Syndrome in the women tested.
January 2014 in “eScholarship (California Digital Library)” Toll-like receptor 3 helps repair the skin barrier after UV damage.
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January 2018 in “International Journal of Biological Sciences” CRISPR-Cas9 can successfully edit genes in large mammals like Cashmere goats.
June 2002 in “Science of aging knowledge environment” The cancer gene c-Myc increases harmful chemicals that damage DNA and can lead to cancer, but antioxidants can reduce this damage.
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
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January 2007 in “Journal of biological chemistry/The Journal of biological chemistry” Stress activates a special function of the Vitamin D receptor with the help of c-Jun, which can also prevent cell death.
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May 2022 in “Oncogene” Vav2 and Vav3 proteins help control skin stem cell numbers and activity in both healthy and cancerous cells.
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August 2021 in “Tumor Biology” TMPRSS2 helps viruses enter cells and protects the prostate from inflammation-related cancer.
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August 1998 in “FEBS Letters” Two new enzymes, PAD-R11 and PAD-R4, were cloned and showed activity, with PAD-R11 resembling epidermal enzymes.
ETS2 drives cancer progression in squamous cell carcinoma and is linked to poor patient outcomes.
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October 2024 in “International Journal of Molecular Sciences” CRET therapy affects inflammation in skin cells by changing cytokine levels and activating certain proteins.
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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.
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January 2021 in “G3 Genes Genomes Genetics” A 195 bp duplication in the HOXC10 gene causes crests in domestic chickens.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
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May 2024 in “Communications Biology” Dab2 protein is crucial for hair follicle stem cell renewal and preventing early aging.
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