107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
103 citations
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March 2011 in “PLoS Biology” Birds can lose neck feathers due to a genetic change that increases a gene's activity, helping them adapt to heat.
99 citations
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July 2012 in “PLoS Genetics” A mutation in the KRT75 gene causes frizzle feathers in chickens.
97 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
94 citations
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June 2016 in “The FASEB Journal” The Wnt/β-catenin pathway helps tissue regeneration but can also cause fibrosis, and drugs that inhibit this pathway may aid in healing skin and heart tissues.
87 citations
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January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
87 citations
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January 2016 in “Development” Blocking β-catenin in skin cells improves hair growth during wound healing.
85 citations
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August 2015 in “Journal of Applied Genetics” Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
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.
83 citations
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October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
82 citations
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February 2017 in “Cold Spring Harbor Perspectives in Biology” The TGF-β family helps control how cells change and move, affecting skin, hair, and organ development.
81 citations
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January 2006 in “Journal of cellular physiology” Mice without the vitamin D receptor gene lose hair due to disrupted hair follicle cycles.
80 citations
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April 2011 in “Plant physiology” White lupin uses specific genes to grow root hairs and access phosphorus when it's scarce.
77 citations
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June 2002 in “Journal of Investigative Dermatology” CD44 variant changes start alopecia areata, but don't maintain it.
75 citations
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April 2000 in “Developmental Dynamics” Whn is essential for hair growth, and its malfunction causes hair loss.
72 citations
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August 2014 in “Genome Biology and Evolution” Feather diversity is due to different keratin gene combinations, and chickens can help study human keratin diseases.
72 citations
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January 2011 in “Current Pharmaceutical Design” S5αR inhibitors might help treat schizophrenia and other mental disorders but need more research.
70 citations
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February 2007 in “Journal of Investigative Dermatology” K39 and K40 are the last keratins expressed in hair development, completing the hair keratin catalog.
69 citations
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January 2013 in “Frontiers in Immunology” The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
68 citations
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September 2018 in “International Journal of Molecular Sciences” Air pollution (PM10) increases skin inflammation and aging by reducing collagen and may trigger a repair response in skin cells.
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.
65 citations
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September 2014 in “BMC genomics” Different hair types in mammals are linked to variations in specific protein genes, with changes influenced by their living environments.
62 citations
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August 2014 in “BMC Endocrine Disorders” New findings explain how genetic changes, body clocks, and certain molecules affect tissue response to stress hormones.
62 citations
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October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
61 citations
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April 2013 in “PloS one” The study found key genes and pathways involved in cashmere goat hair growth stages.
60 citations
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July 2020 in “ACS Nano” Using CRISPR for gene editing in the body is promising but needs better delivery methods to be more efficient and specific.
59 citations
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November 2010 in “Circulation Research” Wnt signaling may be linked to heart diseases in aging and could be a target for future treatments.
55 citations
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August 2013 in “PloS one” Genetic differences between young and old Tan sheep explain why their fleece changes from curly to straight as they age.
48 citations
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May 2019 in “Genome Biology” Researchers found that certain RNA circles in the brain are linked to disease risk, but their exact role in disease is still unknown.
47 citations
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April 2021 in “BMC Medical Genomics” Certain gene variants can influence acne risk and severity.