A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
218 citations
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October 2013 in “Proceedings of the National Academy of Sciences of the United States of America” Mice lacking the PPARγ gene in their fat cells had almost no fat tissue, severe metabolic problems, and abnormal development of other fat-related tissues.
40 citations
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December 2010 in “Human Genetics”
3 citations
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January 2023 in “Science advances” The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
25 citations
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November 2018 in “Cell reports” The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
46 citations
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August 2006 in “Mechanisms of Development” Runx1 is crucial for proper hair structure and development.
79 citations
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January 2002 in “Nucleic Acids Research” BMP-2 activates the Dlx3 gene in mouse skin cells, important for hair and skin development.
20 citations
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March 1985 in “Journal of The American Academy of Dermatology” Genetic factors alone might not cause pemphigus vulgaris; other factors like birth complications and puberty may trigger it.
57 citations
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January 1987 in “Journal of Biological Chemistry” Different keratins have unique expression patterns in mouse skin cells.
May 2006 in “Frontiers in Neuroendocrinology” Progesterone and its metabolites affect myelin protein expression differently in male and female rat Schwann cells.
13 citations
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October 2024 in “Scientific Reports” Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.
1 citations
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September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
3 citations
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December 2013 in “Balkan Journal of Medical Genetics” Microarray analysis helps find hidden chromosomal changes in patients with intellectual disabilities and birth defects.
4 citations
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December 2016 in “Blood” A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
53 citations
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May 1988 in “Journal of Molecular Evolution” 16 citations
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July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
2 citations
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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.
6 citations
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October 2012 in “Journal of Heredity” The Itpr3 gene causes a specific hair pattern in mice.
January 2023 in “International journal of biological sciences” COX2 and ATP synthase control the size of hedgehog spines.
1 citations
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April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
6 citations
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July 2021 in “Frontiers in Genetics” A gene variant causes a skin and hair disorder by disrupting protein balance.
94 citations
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October 1994 in “The Journal of Cell Biology” Too much keratin 16 in mice skin causes abnormal skin thickening and structure.
12 citations
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February 2021 in “Translational Psychiatry” Researchers found two new genetic variants linked to Alzheimer's disease.
5 citations
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March 2021 in “F1000Research” A specific gene variation increases the risk of high uric acid and cholesterol in young Mexican males.
2 citations
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February 2025 in “Poultry Science” TBX5 gene influences feathered feet in Guangxi chickens by affecting cell growth and movement.
14 citations
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August 2014 in “The FASEB Journal” CAP1/Prss8 does not activate PAR2 or inhibit PN-1.
30 citations
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October 1999 in “Differentiation” Mutant MK6a transgenes in mice cause blistering, hair loss, and potential human alopecia.
25 citations
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October 2000 in “Gene” Gene regulatory regions evolve faster than protein coding regions, allowing new gene relationships without changing transcription factors.