20 citations
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February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
14 citations
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January 2008 in “Gene therapy” Gene therapy shows promise for enhancing physical traits but faces ethical, safety, and regulatory challenges.
13 citations
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July 2012 in “Pigment Cell & Melanoma Research” A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
11 citations
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December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
5 citations
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May 2023 in “European Journal of Human Genetics” NIPT can help detect potential maternal cancer, and GIPXplore can identify immune diseases in pregnancies.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
2 citations
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January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
2 citations
,
April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
1 citations
,
May 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Ulcerative colitis involves immune activation, chronic inflammation, and metabolic issues, some of which persist even during remission.
1 citations
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November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
1 citations
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January 2011 in “Springer eBooks” Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
December 2025 in “Frontiers in Medicine” ARWH is a rare hair disorder with no cure, but potential treatments include minoxidil and other therapies.
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.
Plant roots respond to fungus smells by possibly using certain proteins and a plant hormone to change root growth, but more research is needed.
January 2019 in “Springer Reference Medizin” Follicle Stimulating Hormone is important for fertility.
October 2018 in “InTech eBooks” The gene Foxn1 is important for hair growth, and understanding it may lead to new alopecia treatments.
October 2007 in “Journal of Investigative Dermatology” The meeting highlighted the genetic basis of female pattern hair loss and various skin health insights.
349 citations
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January 2005 in “The FASEB journal” Human skin can make serotonin and melatonin, which help protect and maintain it.
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.
157 citations
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May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
137 citations
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October 2009 in “The American journal of pathology” Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.
98 citations
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June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” A cluster of sulfur-rich hair protein genes was found on chromosome 17.
84 citations
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July 2003 in “European journal of biochemistry” Mouse skin can produce and process serotonin, with variations depending on hair cycle, body location, and mouse strain.
66 citations
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January 2001 in “Vitamins and hormones” Androgen receptors are key for development and health, affecting conditions like prostate cancer and male pattern baldness.
56 citations
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December 2011 in “The Plant Journal” AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.
10 citations
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September 2015 in “PLoS ONE” New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
3 citations
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July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
1 citations
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May 2023 in “Journal of molecular evolution” Pangolins have lost some skin-related genes, but kept others, leading to their unique scales and skin features.