October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
80 citations
,
June 2002 in “Molecular Biology of the Cell” Type II keratins are uniquely phosphorylated during stress and mitosis, affecting their structure and function.
19 citations
,
January 2019 in “Animals” PDGFA helps activate hair growth in cashmere goats.
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
21 citations
,
November 2017 in “Scientific Reports” Different human hair follicle stem cells grow at different rates and respond differently to a baldness-related compound.
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.
4 citations
,
July 2020 in “Research Square (Research Square)” The research helps understand how finasteride works and aids drug development.
July 2024 in “Journal of Investigative Dermatology” 26 citations
,
January 2011 in “Open Journal of Genetics” The KAP13-3 gene in sheep affects wool quality by influencing keratin assembly.
November 2010 in “International Journal of Developmental Neuroscience” January 2006 in “OpenCommons at University of Connecticut (University of Connecticut)” Overexpressing AVP1 and AtNHX1 in plants improves salt tolerance and root hair development.
PPARβ/δ helps yaks adapt to high altitudes by regulating lipid metabolism in their coats.
39 citations
,
December 2012 in “The American Journal of Human Genetics” Mutations in the SNRPE gene cause hereditary hair loss.
April 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
11 citations
,
April 2022 in “International Journal of Molecular Sciences” Understanding the Wnt/β-catenin pathway and photobiomodulation could improve diabetic wound healing.
20 citations
,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
2 citations
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April 2023 in “Diabetes Metabolic Syndrome and Obesity” 2h-ICPR can help screen for insulin antibodies in type 2 diabetes patients.
16 citations
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July 1996 in “Journal of Investigative Dermatology” 478 citations
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September 1996 in “Proceedings of the National Academy of Sciences” Overexpression of PTHrP in chondrocytes causes short-limbed dwarfism and delayed bone formation in mice.
86 citations
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February 2009 in “Journal of Neuroscience” Pregnancy increases certain GABAA receptors in rat brains, influenced by steroid levels.
6 citations
,
January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
September 2023 in “UCrea (University of Cantabria)” Nails are essential for fingertip regeneration.
April 2016 in “Journal of Investigative Dermatology” Mice without the p21 gene can fully regenerate injured ears due to reduced Sdf1 increase and leukocyte recruitment, suggesting new ways to induce tissue regeneration in mammals.
81 citations
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March 1985 in “Journal of Clinical Investigation” Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
October 2014 in “Dialnet (Universidad de la Rioja)” Snail2 is crucial for hair growth and affects skin cancer development.
46 citations
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October 2012 in “Seminars in reproductive medicine” Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
11 citations
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July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
7 citations
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May 2022 in “Cancers” UC.145 may be a new biomarker for predicting gastric cancer.
A rigid compound with a common structural motif was successfully synthesized.
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.