A specific gene mutation causes monilethrix in this family, and minoxidil treatment improves hair condition.
47 citations
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July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
4 citations
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August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
January 1999 in “Journal of Investigative Dermatology” September 1997 in “Clinical and Experimental Dermatology” 175 citations
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August 1997 in “Nature Genetics” 53 citations
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October 2003 in “Genetics” The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
5 citations
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June 2008 in “British Journal of Dermatology” 686 citations
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February 2002 in “Current Opinion in Cell Biology” Keratin filaments are crucial for cell structure and protection, with ongoing discoveries about their genes and functions.
211 citations
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April 2018 in “Cold Spring Harbor Perspectives in Biology” Keratins are crucial for cell structure, growth, and disease risk.
84 citations
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April 2002 in “Archives of Dermatology” Loose anagen hair syndrome may be caused by keratin gene mutations.
54 citations
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November 2015 in “Methods in enzymology on CD-ROM/Methods in enzymology” Keratins are important for skin cell health and their problems can cause diseases.
15 citations
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September 2002 in “Journal of Biological Chemistry” Abnormal keratin expression in mice causes severe oral issues, affecting feeding.
14 citations
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July 1994 in “Journal of Dermatological Science” Keratin mutations may cause scarring alopecia by damaging hair structure.
13 citations
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May 2001 in “Current problems in dermatology” Keratin proteins in epithelial cells are dynamic and crucial for cell processes and disease understanding.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Mutations in keratin genes cause skin, hair, and nail disorders, with future treatments possible.
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
96 citations
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June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
40 citations
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September 2004 in “Biomacromolecules” The Glu413Lys mutation in keratin affects hair stability, while Glu413Asp does not.
33 citations
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September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
17 citations
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November 2017 in “Asian-Australasian journal of animal sciences” Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.
11 citations
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October 2002 in “Genetics” A new mouse hair mutation, called hague, is semidominant and unstable, but the exact cause is unknown.
1 citations
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January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” Keratin2-6g is crucial for hair follicle development, with mutations causing cell degeneration and vacuolation.
58 citations
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July 2005 in “Molecular and Cellular Biology” A specific gene segment can make mouse skin cells glow, helping study hair growth and gene effects.
20 citations
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August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
The naked mutation in mice causes hair loss and helps identify keratin genes.