2 citations
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February 2021 in “FEBS open bio” Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.
60 citations
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March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
3 citations
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January 2011 in “生物医学研究杂志:英文版” A new mutation in the KRT86 gene causes monilethrix in a Han family.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
3 citations
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February 2011 in “Journal of Biomedical Research/Journal of biomedical research” A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.
34 citations
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
42 citations
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October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
6 citations
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May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
51 citations
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December 2006 in “Mammalian Genome” September 1997 in “Clinical and Experimental Dermatology”
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
9 citations
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February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
79 citations
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March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder 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.
10 citations
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January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
1 citations
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September 2020 in “Journal of dermatology” Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.
14 citations
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July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
45 citations
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January 2010 in “Journal of Veterinary Medical Science” A gene mutation causes curly hair and hair loss in rats.
3 citations
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February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
21 citations
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March 2003 in “Clinical and Experimental Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
17 citations
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October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
21 citations
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April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
15 citations
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June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
21 citations
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June 2009 in “Mammalian genome” A new mutation in the Hr gene causes hair loss in mice, similar to a human hair disorder.