December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
62 citations
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March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
14 citations
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November 2022 in “Development” Controlling transposable elements is crucial for successful tissue regeneration.
26 citations
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June 2003 in “PubMed” Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
11 citations
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November 2015 in “Carcinogenesis” Deleting TNFα gene reduces skin cancer risk in certain mice.
January 2023 in “Indian dermatology online journal” A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
40 citations
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January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
23 citations
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January 1981 Hair is mostly made of three protein types: helical, high-sulfur, and high-tyrosine.
5 citations
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September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease” Hairless protein helps control hair growth by regulating vitamin D receptor activity.
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” The PP2A-B55α protein is essential for brain and skin development in embryos.
28 citations
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July 1980 in “British Journal of Dermatology” The hair disorder was caused by abnormal protein formation, making hair easily damaged.
9 citations
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September 2013 in “Journal of Applied Animal Research” The genetic variation in the KAP13-3 gene may affect cashmere fiber traits in Liaoning goats.
10 citations
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June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
March 2024 in “BMC cancer” High levels of ST14 and TMEFF1 proteins in ovarian cancer are linked to worse patient outcomes and may be a new treatment target.
26 citations
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August 2018 in “Journal of Investigative Dermatology” Activating TRPV3 reduces skin oil production and increases inflammation, potentially causing dry skin issues.
21 citations
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April 2008 in “Toxicologic Pathology” CI-1033 causes skin lesions in rats, similar to humans, due to EGF receptor inhibition.
1 citations
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February 2022 in “Clinical, Cosmetic and Investigational Dermatology” TDM10842, a thyroid hormone receptor activator, was found to effectively promote hair growth in mice.
294 citations
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February 2011 in “Cell” Nephronectin helps attach muscle cells to hair follicles.
86 citations
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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.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
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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January 2018 in “Development” Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.
5 citations
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February 2016 in “Genetic Testing and Molecular Biomarkers” Hair loss is significantly linked to lower levels of certain genes in hair follicles.
3 citations
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November 2021 in “Protein and Peptide Letters” β-thymosin in invertebrates is more complex and diverse than in vertebrates.
16 citations
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
April 2024 in “Cellular signalling” Activating TRPMLs helps human cells important for hair growth and increases hair growth in mice.
K15 and Id3 are important in hair follicle regeneration, with K15 increasing in early stages and Id3 responding later.
1 citations
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February 2013 in “InTech eBooks” LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.