199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
4 citations
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May 2025 in “npj Parkinson s Disease” PINK1 is important for controlling gut immune responses linked to early Parkinson's disease.
27 citations
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July 2013 in “Journal of Investigative Dermatology” Revertant cell therapy shows promise for treating type XVII collagen deficiency, but better cell selection methods are needed.
January 2013 in “Transactions of the Materials Research Society of Japan” CMADK reduces hair damage from bleaching and permanent waving.
24 citations
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March 2016 in “Journal of Investigative Dermatology” TIP39 and PTH2R help control calcium levels and skin cell development.
1 citations
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May 2016 in “Journal of Cosmetic Dermatology” Cytokeratins 15 and 19 may help track vitiligo treatment progress.
September 2024 in “Journal of the American Academy of Dermatology” PRO-C22 can help diagnose and monitor the severity of hidradenitis suppurativa.
March 2026 in “The Indian Journal of Animal Sciences” All Indian dromedary camel breeds have the same KRTAP7 gene affecting hair quality.
18 citations
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September 2018 in “The Journal of Agricultural Science” Genetic variation in the KRTAP15-1 gene affects wool yield in sheep.
December 2024 in “European journal of medical research”
28 citations
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April 1996 in “Cell biology international” Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
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.
71 citations
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January 2012 in “PloS one” The conclusion is that genetic differences affect how the cochlea heals after hair cell loss, which may challenge the creation of hearing loss treatments.
15 citations
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September 2002 in “Journal of Biological Chemistry” Abnormal keratin expression in mice causes severe oral issues, affecting feeding.
1 citations
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September 2023 in “Animals” A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.
April 2026 in “Journal of Investigative Dermatology” ZNF750 helps keep hair follicles healthy and prevents skin inflammation.
5 citations
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September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease” Hairless protein helps control hair growth by regulating vitamin D receptor activity.
Researchers made a mouse model with curly hair and hair loss by editing a gene.
56 citations
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September 2014 in “Molecular Endocrinology” Vitamin D receptor is essential for hair growth signaling.
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.
95 citations
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September 2012 in “Oman Medical Journal” Mutations in keratin genes can cause skin and mucosa disorders.
415 citations
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January 2008 in “Cell” NFATc1 controls hair stem cell activity, affecting hair growth and could be a target for hair loss treatments.
22 citations
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May 2007 in “Molecular Biotechnology” 148 citations
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May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
28 citations
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January 2013 in “Stem cells” Certain human skin cells marked by CD44 and ALDH are rich in stem cells capable of long-term skin renewal.
Mdm2 is crucial for controlling p53 to maintain healthy cells and prevent tumors.
9 citations
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November 2021 in “Frontiers in Cell and Developmental Biology” PBX1 helps reduce aging and cell death in hair follicle stem cells by decreasing DNA damage, not by improving DNA repair.
25 citations
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September 2018 in “Molecular Biology of the Cell” Blocking Wnt/β-catenin signaling with EGF receptor is necessary for proper hair growth.
1 citations
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November 2020 The Wnt1/βcatenin pathway is crucial for heart repair after injury.
43 citations
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April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.