April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
98 citations
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December 1991 in “Annals of the New York Academy of Sciences” Keratin gene regulation is similar across mammals, affecting hair follicle differentiation.
May 2022 in “Research Square (Research Square)” Nestin marks cells that can become a specific type of skin cell in hair follicles of both developing and adult mice.
33 citations
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October 1996 in “Journal of Investigative Dermatology”
20 citations
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July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
79 citations
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June 1993 in “Molecular and Cellular Biology” The K5 promoter controls gene expression in skin cells, with specific DNA segments crucial for targeting and regulation.
6 citations
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August 2022 in “Science immunology” Foxn1 gene regulation is crucial for thymus development but not for hair growth.
41 citations
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December 1988 in “Journal of Investigative Dermatology” 47 citations
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September 2004 in “Journal of Biological Chemistry” Hoxc13 regulates specific hair protein genes on mouse chromosome 16.
24 citations
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July 1994 in “Journal of Investigative Dermatology”
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
June 2022 in “Research Square (Research Square)” Nestin-expressing cells turn into a specific type of skin cell in hair follicles during development and in adults.
133 citations
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June 1993 in “Molecular and Cellular Biology” The human K5 promoter controls specific gene expression in skin cells, with key regulatory elements near the TATA box.
56 citations
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July 2004 in “Mechanisms of Development” Pax9 is crucial for proper tongue surface development and preventing skin-like changes.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
November 2005 in “PubMed” The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.
16 citations
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July 1996 in “Journal of Investigative Dermatology” September 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 gene controls root-hair growth by regulating phospholipid signaling.
21 citations
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July 2018 in “International Journal of Molecular Sciences” Foxn1 is crucial for skin development and healing, and altering its expression may aid regenerative medicine.
26 citations
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March 1995 in “Differentiation” A rabbit gene important for hair development was identified and detailed.
128 citations
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March 1989 in “Experimental Cell Research” Hoxc13 is important for hair and tongue development by controlling hair keratin genes.
23 citations
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July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
9 citations
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November 2013 in “Journal of Investigative Dermatology” Overexpressing CtBP1 in skin cells causes skin and hair problems.
46 citations
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May 1995 in “Proceedings of the National Academy of Sciences” A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.
1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
141 citations
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February 1988 in “Molecular and Cellular Biology” Only one K16 gene on chromosome 17 makes a functional keratin protein.
22 citations
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April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
92 citations
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May 2004 in “Journal of Investigative Dermatology” 38 citations
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February 1988 in “Molecular and Cellular Biology” Only one of the two K16 genes on chromosome 17 makes a functional protein for keratin filaments.
4 citations
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July 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” BLMP-1 is important for regular molting and gene expression cycles in worms.