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November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
13 citations
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April 2020 in “Experimental Cell Research” PCAT1 helps hair growth by controlling miR-329/Wnt10b.
November 2025 in “Molecular and Cellular Biomedical Sciences” There is no significant link between the MMP-1 rs1799750 polymorphism and androgenetic alopecia in the Indonesian population.
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June 2004 in “Journal of Investigative Dermatology” Certain peptides can prevent hair loss in young rats caused by a cancer drug.
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July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
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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.
19 citations
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December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
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January 2021 in “Scientific Reports” Pannexin 3 helps skin and hair growth by controlling a protein called Epiprofin.
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December 2010 in “Human Genetics” 52 citations
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July 2011 in “PubMed” TRPS1 is crucial for bone, kidney, and hair follicle development.
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April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
140 citations
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October 2008 in “Nature Genetics”
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
21 citations
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January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
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June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
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March 2021 in “EMBO Reports” PRSS35 enzyme may help start skin tumors and could be a target for cancer treatment.
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February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.
4 citations
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May 2023 in “Pigment Cell & Melanoma Research” BMI1 is essential for preventing hair greying and maintaining hair color.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Blocking mTORC1 activity with rapamycin could help increase hair pigmentation and growth, potentially reversing gray hair.
68 citations
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December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” HOXC13 is essential for hair and nail development by regulating Foxn1.
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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.
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May 2016 in “International Journal of Molecular Sciences” PP2Acα is essential for proper hair and skin development.
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October 2023 in “mSphere” PrrH sRNA controls pyochelin production in *Pseudomonas aeruginosa*.
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August 2022 in “Cells” lncRNA2919 slows down rabbit hair growth by stopping cell growth and causing cell death.
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September 2023 in “Acta dermato-venereologica” Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.
15 citations
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December 2020 in “The Journal of General Physiology” Acid can block TRPV3 from outside the cell but boost its function from inside.