88 citations
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June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Increasing type 17 collagen reduces aging signs in skin cells caused by UV light.
24 citations
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April 2017 in “Oncology Reports” The hair keratin gene KRT81 is found in both normal and breast cancer cells and helps them invade surrounding tissues.
3 citations
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February 2022 in “Frontiers in Genetics” The LncRNA AC010789.1 slows down hair loss by promoting hair follicle growth and interacting with miR-21 and the Wnt/β-catenin pathway.
10 citations
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October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
11 citations
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March 2021 in “Molecular Carcinogenesis” Twist1 is crucial for UVB-induced skin cancer development.
1 citations
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December 2015 in “Balkan Journal of Medical Genetics” Genetic screening can help diagnose and manage infertility in Slovenian couples.
117 citations
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August 1999 in “Nature Genetics” 70 citations
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August 2006 in “Cancer Research” AP-1 controls tumor cell type by affecting key signaling pathways.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
107 citations
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April 2014 in “The Plant cell” The CAP1 gene helps control ammonium levels and is necessary for the proper growth of root hairs in Arabidopsis.
May 2005 in “Molecular Carcinogenesis” mrp/plf-mRNA can indicate tumor-promoting effects in skin.
32 citations
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January 2020 in “Journal of Molecular Histology” K31 can identify clear secretory cells in human sweat glands.
January 2025 in “Cell Communication and Signaling” CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
3 citations
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December 2013 in “Balkan Journal of Medical Genetics” Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
27 citations
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June 2013 in “Genes & development” Cav1.2 affects hair growth and could be a target for hair loss treatments.
151 citations
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December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
140 citations
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October 2008 in “Nature Genetics” 58 citations
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July 2005 in “Molecular and Cellular Biology” A specific gene segment can make mouse skin cells glow, helping study hair growth and gene effects.
19 citations
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February 2013 in “Archives of Dermatological Research”
23 citations
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December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
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.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
17 citations
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June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
December 2024 in “European journal of medical research”