25 citations,
October 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Mouse profilaggrin helps in skin cell differentiation and may be involved in calcium signaling.
22 citations,
August 2020 in “Cells” TGM3 is important for skin and hair structure and may help diagnose cancer.
21 citations,
January 2022 in “Biomaterials Science” RNA delivery is best for in-body use, while RNP delivery is good for outside-body use. Both methods are expected to greatly impact future treatments.
21 citations,
January 2021 in “Frontiers in Pharmacology” Thiopurines help treat IBD but require genetic testing to avoid side effects.
20 citations,
October 2017 in “Stem Cell Reports” The study demonstrated that Alkaline Ceramidase 1 (ACER1) was crucial for maintaining the homeostasis of hair follicle stem cells (HFSCs) and preventing premature hair loss in mice by regulating ceramide metabolism. Mice lacking the Acer1 gene showed increased ceramide levels, leading to HFSC depletion, disrupted hair follicle cycling, and progressive hair loss. The absence of ACER1 resulted in morphological changes in hair follicles, lipid accumulation, and impaired hair structure and function. The research highlighted the importance of ACER1 in regulating ceramide metabolism and maintaining HFSC homeostasis, suggesting its potential as a target for treating hair loss conditions.
19 citations,
July 2020 in “EBioMedicine” A gene variant increases the risk of a type of hair loss by affecting hair protein production.
18 citations,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
18 citations,
June 2001 in “Journal of Investigative Dermatology” Adding a specific gene to skin cells can help treat skin disorders like psoriasis.
16 citations,
October 2023 in “Molecular cancer” New treatments like nanotechnology show promise in improving skin cancer therapy.
16 citations,
March 2021 in “EvoDevo” Different species use the same genes for tooth regeneration.
16 citations,
September 2019 in “Journal of biological chemistry/The Journal of biological chemistry” Mice without certain skin enzymes have faster hair growth and bigger eye glands.
16 citations,
September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
15 citations,
March 2015 in “PloS one” Scientists restored fertility in male mice lacking a key fertility gene by using a modified gene.
15 citations,
October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
14 citations,
June 2022 in “Stem cell reports” The study created hair-bearing skin models that lack a key protein for skin layer attachment, limiting their use for certain skin disease research.
14 citations,
April 2016 in “PloS one” The KRTAP11-1 gene promoter is crucial for specific expression in sheep wool cortex.
14 citations,
March 2016 in “Mechanisms of Development” Basonuclin 2 is vital for the development of facial bones, hair follicles, and male germ cells in adult mice, and its absence can lead to dwarfism and abnormal follicles.
13 citations,
January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
13 citations,
August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
11 citations,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
11 citations,
July 2021 in “Genetics selection evolution” Researchers found genes and genetic variants linked to sheep wool and skin wrinkles.
11 citations,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
11 citations,
June 2017 in “Asian-Australasian journal of animal sciences” Fox genes are important for hair growth and development in cashmere goats.
11 citations,
October 2014 in “Gene” Researchers identified a new variant of the FGF5 gene in sheep that affects hair length.
10 citations,
July 2022 in “Dermatology and Therapy” Melasma's causes include genetics, sun exposure, hormones, and oxidative stress, and understanding these can help create better treatments.
10 citations,
November 2021 in “International journal of molecular sciences” Sheep and goat hair fibers are complex due to keratin-associated proteins, which are important for fiber properties and growth.
9 citations,
July 2022 in “Cell reports” Sox2 controls hair color by affecting pigment production in hair follicles.
9 citations,
May 2019 in “Medicine” The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
9 citations,
January 2014 in “Molecular Genetics and Metabolism Reports” The study identified the retarded hair growth (rhg) mutation in mice as an allele of the ornithine aminotransferase (Oat) gene, caused by a G to C transversion in Exon 9, leading to a glycine to alanine substitution. This mutation resulted in elevated plasma ornithine levels, reduced OAT activity, and symptoms such as delayed hair growth, cataracts, and retinal degeneration, making it a potential model for human gyrate atrophy of the choroid and retina. The study involved a large backcross panel of 1,462 mice and 65 offspring from specific crosses, providing a robust model for understanding OAT deficiency. Arginine supplementation improved growth in mutant mice, supporting the link between the rhg mutation and OAT deficiency.
8 citations,
December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.