39 citations
,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
89 citations
,
January 2020 in “PubMed” Early detection and biotin treatment improve outcomes for biotinidase deficiency.
119 citations
,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
215 citations
,
November 2000 in “Journal of Investigative Dermatology” The system allows precise control of gene expression in mouse skin, useful for studying skin biology.
May 2017 in “bioRxiv (Cold Spring Harbor Laboratory)” The peach gene pCTG134 helps control the interaction between auxin and ethylene hormones during fruit ripening.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” TYK2 inhibition may help treat alopecia areata by promoting hair growth and reducing immune response.
39 citations
,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
117 citations
,
August 1999 in “Nature Genetics” 46 citations
,
May 1995 in “Proceedings of the National Academy of Sciences” A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
January 2008 in “Vestnik Tomskogo gosudarstvennogo universiteta Filologiya” Overexpressing the Tβ4 gene in goats can increase cashmere production.
6 citations
,
November 2008 in “Journal of Dermatological Science” Certain proteins involved in DNA modification may affect the genetic changes in systemic lupus erythematosus and could indicate the disease's activity.
147 citations
,
August 2005 in “The Plant Cell” The TIP1 gene is crucial for normal plant cell growth in Arabidopsis.
35 citations
,
September 2012 in “PloS one” Two distinct pathways direct proteins to vacuoles in Arabidopsis, affecting root hair growth and protein targeting.
18 citations
,
November 2016 in “Transgenic research” Overexpressing Tβ4 in cashmere goats improves hair fiber traits and increases cashmere yield.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
81 citations
,
October 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genes control the color of human hair by affecting pigment production.
9 citations
,
November 2013 in “Journal of Investigative Dermatology” Overexpressing CtBP1 in skin cells causes skin and hair problems.
January 2000 in “Cambio 16” Bcl-2 affects hair growth and pigmentation by controlling cell death.
28 citations
,
November 2013 in “Cell and Tissue Research”
1 citations
,
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Dicer is crucial for hair growth in mice.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
20 citations
,
March 1975 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” The study concludes that a genetic mutation in TFM mice leads to reduced androgen receptor activity, affecting the body's response to male hormones.
7 citations
,
March 2012 in “Journal of Investigative Dermatology” Some thymic peptides can increase human hair growth, while others may inhibit it.
2 citations
,
January 1989 Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet2 and Tet3 enzymes are essential for controlling hair growth by affecting DNA demethylation and gene expression in mice.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
2 citations
,
June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
2 citations
,
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.