4 citations
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July 2012 in “Genesis” The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
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.
37 citations
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April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
1 citations
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November 2023 in “International Journal of Molecular Sciences” SOX18 helps sheep hair cells grow by activating a specific cell growth pathway.
40 citations
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May 2005 in “Journal of Cell Science” Truncated LTBP-1 disrupts TGF-β signaling, affecting hair growth.
7 citations
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May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
13 citations
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January 2021 in “Scientific Reports” Pannexin 3 helps skin and hair growth by controlling a protein called Epiprofin.
14 citations
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November 2024 in “International Journal of Molecular Sciences” YAP and TAZ proteins control skin cell growth and repair.
15 citations
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August 2019 in “F1000Research” CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
92 citations
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November 2006 in “Proceedings of the National Academy of Sciences of the United States of America” BMP signaling controls hair follicle size and cell growth by affecting cell cycle genes.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
78 citations
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June 2013 in “Science” Mice without the Sept4/ARTS gene heal wounds better due to more stem cells that don't die easily.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
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.
September 2023 in “Journal of the American Academy of Dermatology” BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
28 citations
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November 2018 in “Journal of Cellular and Molecular Medicine” CXXC5 is a protein that controls cell growth and healing processes, and changes in its activity can lead to diseases like cancer and hair loss.
12 citations
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September 2021 in “PLoS ONE” WNT10A and EBF1 interaction affects hair growth in male-pattern baldness.
12 citations
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December 2003 in “Gene” The ovine Hoxc-13 gene is crucial for hair formation and may have other skin functions.
1 citations
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March 2024 in “Genes & Diseases” EBF1 controls hair type and length.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
1 citations
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January 2020 in “Benha Journal of Applied Sciences” Certain gene variations may increase the risk and severity of alopecia areata.
April 2018 in “Journal of Investigative Dermatology” BMP signaling is important for skin color, affecting melanin production, pigment spread, and cell movement.
92 citations
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May 2004 in “Journal of Investigative Dermatology” ISX9 helps regrow hair by activating a specific cell signaling pathway.
3 citations
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July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
The FOS gene helps hair growth in Tan sheep.
September 2025 in “Development” Nelfb is crucial for forming skin fat tissue by regulating genes needed for fat cell development.
33 citations
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February 2012 in “British Journal of Dermatology” Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.
March 2026 in “Adipocyte” Spt4 and Spt6 are essential for fat cell development.