333 citations
,
March 2000 in “Proceedings of the National Academy of Sciences” Overexpressing GLI-1 in mice skin can cause tumors like human basal cell carcinomas.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
November 2020 in “International journal of contemporary pediatrics” Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.
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.
4 citations
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May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
7 citations
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March 2012 in “Journal of Investigative Dermatology” Some thymic peptides can increase human hair growth, while others may inhibit it.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
81 citations
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November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
13 citations
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August 2020 in “Frontiers in Cell and Developmental Biology” Twist1 helps maintain important features of cells crucial for hair growth by working with Tcf4 and β-catenin.
14 citations
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November 2024 in “International Journal of Molecular Sciences” YAP and TAZ proteins control skin cell growth and repair.
14 citations
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December 1998 in “British Journal of Cancer” Truncated hHb1 keratin may play a role in breast cancer cell transformation.
December 2019 in “theses.fr (ABES)” Lower TGFß1 levels help stem cells become beige fat cells.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
1 citations
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November 1983 in “The Lancet” Acute leukemias with the Philadelphia chromosome may be biphenotypic, and identifying this is important for proper treatment.
11 citations
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July 2021 in “Physiologia Plantarum” SIPHL1 from tomato enhances plants' response to low phosphate levels.
249 citations
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November 2018 in “Cell” TNFα helps grow and maintain liver cells in 3D culture for a long time.
December 2025 in “Animals” TGFBR1 slows down cell growth in fine-wool sheep hair follicles.
11 citations
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March 2021 in “Molecular Carcinogenesis” Twist1 is crucial for UVB-induced skin cancer development.
May 2018 in “The journal of immunology/The Journal of immunology” Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
31 citations
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November 2015 in “PloS one” Reducing Tyrosinase prevents mature color pigment cells from forming in mouse hair.
7 citations
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February 2012 in “British Journal of Dermatology” TH antibodies in vitiligo and AA patients recognize the same protein parts.
14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
November 2025 in “Frontiers in Veterinary Science” A 1.0% tyrosine diet increases melanin in chicken feathers.
9 citations
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May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
July 2025 in “Pediatric Transplantation” A rare skin infection in a 10-year-old kidney transplant patient was successfully managed by adjusting medication.