5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
February 2016 in “Science” Foxc1 and COL17A1 are crucial for maintaining healthy hair follicles and preventing hair loss.
April 2025 in “Journal of Digestive Cancer Research” 26 citations
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January 2011 in “Open Journal of Genetics” The KAP13-3 gene in sheep affects wool quality by influencing keratin assembly.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
36 citations
,
January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
23 citations
,
June 1992 in “PubMed” RAR-gamma 1 is important for normal skin maintenance and differentiation.
13 citations
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December 2005 in “Traffic” Syntaxin 9 helps in transporting and signaling of the EGF receptor in skin and stomach cells.
19 citations
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August 2012 in “Cell death and differentiation” Intu gene is crucial for hair follicle formation by helping keratinocytes differentiate through primary cilia.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” KIF18B is important for correctly positioning cell division machinery in skin cells, affecting hair follicle development.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
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.
39 citations
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November 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” Fatp4 is crucial for healthy skin development and function.
1 citations
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April 2023 in “International journal of molecular sciences” Certain skin proteins can form anchoring structures without the protein AMACO.
7 citations
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May 2021 in “EBioMedicine” Increased methylation of the Filip1l gene may contribute to aggressive skin cancer.
February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
22 citations
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May 2007 in “Molecular Biotechnology” January 2026 in “Applied Sciences” Cyclic ADP-ribose helps regulate calcium and signals that promote hair growth in hair follicle cells.
11 citations
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June 2019 in “Tissue & Cell” Hair stem cells produce a protein called COL17A1 that plays a key role in their development and is linked to hair thinning and baldness.
September 2023 in “The FASEB journal” Foxn1 is important for fat development, metabolism, and wound healing in skin.
283 citations
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February 2011 in “Cell stem cell” COL17A1 is crucial for preventing hair graying and loss by supporting hair and pigment stem cells.
Defective nuclear transport may cause gene expression changes in Progeria.
51 citations
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January 2004 in “European Journal of Cell Biology” Human cathepsin V can replace mouse cathepsin L to maintain normal skin and hair in mice.
68 citations
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April 2014 in “Journal of Investigative Dermatology” Trichohyalin-like proteins are essential for the development of skin structures like hair, nails, and feathers.
40 citations
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March 2019 in “Nature Communications” CRAC channels are crucial for the development and function of specialized immune cells, preventing severe inflammation and autoimmune diseases.
12 citations
,
December 2003 in “Gene” The ovine Hoxc-13 gene is crucial for hair formation and may have other skin functions.
Pygo2 is important for early growth and progression of intestinal tumors, and could be a target for treating cancers with certain mutations.
415 citations
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January 2008 in “Cell” NFATc1 controls hair stem cell activity, affecting hair growth and could be a target for hair loss treatments.
139 citations
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August 2006 in “Molecular and Cellular Biology” Rac1 is vital for hair follicle health but not needed for skin maintenance.