A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
8 citations
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June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
6 citations
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January 2020 in “Czech Journal of Animal Science” The FAT1 gene and its variations can help improve wool quality in Chinese Merino sheep through selective breeding.
1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
December 2024 in “European journal of medical research”
13 citations
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November 2012 in “PLoS ONE” A gene mutation in mice causes severe skin disorder similar to a human condition.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
January 2026 in “Preprints.org” Four new FGF5 gene variants cause long hair in dogs.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
November 2025 in “The Journal of Immunology” BTNL2 helps protect hair follicles from immune attacks, which could aid in treating alopecia areata.
24 citations
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February 2015 in “Experimental Cell Research” NFIC helps human dental stem cells grow and become tooth-like cells.
17 citations
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April 2021 in “Frontiers in Pharmacology” Activating Nrf2 can help protect against hearing loss.
92 citations
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February 2005 in “Journal of Investigative Dermatology”
17 citations
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December 2010 in “Journal of Investigative Dermatology” Flightless I protein affects hair growth, with low levels delaying it and high levels increasing hair length in rodents.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
July 2022 in “Research Square (Research Square)” Lower PPARγ levels and specific gene variations are linked to more severe Frontal Fibrosing Alopecia.
August 2022 in “International Journal of Molecular Sciences” DNA methylation controls lncRNA2919, which negatively affects hair growth.
8 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” The near-naked hairless mutation causes hair loss but is not due to a mutation in the hairless gene itself.
93 citations
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April 2003 in “Proceedings of the National Academy of Sciences of the United States of America” Fatty acid transport protein 4 is essential for skin and hair development.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
28 citations
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February 2010 in “Experimental Dermatology” The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
115 citations
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December 2019 in “The Plant Journal” Nitrate helps plants manage phosphate uptake and starvation responses through NIGT1 proteins.
28 citations
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July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology”
April 2018 in “Journal of Investigative Dermatology” Activating Nrf2 helps wounds heal faster by increasing hair follicle stem cells.
1 citations
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October 2025 in “International Journal of Molecular Sciences” Mutating the gmds gene in zebrafish increases hair cell numbers and regeneration.
January 2022 in “SSRN Electronic Journal” LncRNA RP11-818024.3 helps hair growth and recovery in hair loss by boosting cell survival and reducing cell death.
1 citations
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June 2013 in “Science-business Exchange” Increasing the levels of a protein called FGF9 can promote hair growth, but humans may not respond the same way due to a lack of certain cells.
7 citations
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March 2007 in “International Journal of Dermatology” Targeting FGFR-1 with antisense oligonucleotides may help treat baldness by increasing hair follicle activity.
1 citations
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July 2016 in “Livestock science” Nerve growth factor helps cashmere goat hair cells grow and is more active during the hair growth phase.