152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
The KRTAP36-1 gene affects wool quality in Chinese Tan lambs.
52 citations
,
April 2012 in “Journal of Investigative Dermatology” KRTAP2 genes are crucial for hair structure and may impact hair disorders and treatments.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
52 citations
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October 1995 in “Experimental Cell Research” Human hair keratin genes hHa2 and hHb1 are located on chromosomes 17 and 12.
85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
3 citations
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July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
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.
April 2017 in “Journal of Investigative Dermatology” Blocking JAK-STAT5 signaling in mice leads to hair growth.
January 2023 in “Research Square (Research Square)” IGF2BP3 gene is up-regulated in keloid patients, suggesting potential targets for treatment.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
76 citations
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September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
KRTAP6 genes affect wool quality in sheep.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
32 citations
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April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of keratin K2 causes skin problems and inflammation.
19 citations
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July 1994 in “Journal of Dermatological Science” Human hair keratin genes are similar to mouse genes and are specifically expressed in hair follicles.
2 citations
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August 2022 in “Animals” Different versions of the KRTAP6-2 gene in goats can lead to thinner cashmere fibers.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Krox20 is important for maintaining stem cells in the skin and affects hair growth and color.
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.
32 citations
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November 1998 in “Journal of Biological Chemistry” Mouse and human keratin 16 can both form filaments, with differences likely due to the tail domain, not the helical domain.
19 citations
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April 1999 in “British Journal of Dermatology” Keratin 2e shows a unique pattern in developing fetal skin, different from other keratins.
29 citations
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July 2015 in “Journal of Medical Genetics” A genetic variant in the KRT25 gene causes tightly curled hair.
2 citations
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January 2017 in “Folia biologica” The KRTAP7-1 gene is very similar across different cattle and yak breeds and likely plays a role in hair strength and shape.
40 citations
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February 1994 in “Journal of Investigative Dermatology” 14 citations
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December 2016 in “PloS one” Keratin 26 affects cashmere goat hair growth and is influenced by various treatments.
September 2022 in “Research Square (Research Square)” 5% topical minoxidil improves hair density and quality in monilethrix patients.
124 citations
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September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
1 citations
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November 2024 in “EMBO Reports” Deleting Gpr54 speeds up hair growth and regeneration.
10 citations
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August 2023 in “The EMBO Journal” Kdm6b is crucial for skin cell differentiation.
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.