5 citations
,
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” The gene therapy showed significant wound healing and was safe for treating severe RDEB.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
April 2019 in “Journal of Investigative Dermatology” Researchers fixed gene mutations causing a skin disease in stem cells, which then improved skin grafts in mice.
21 citations
,
December 1994 in “Journal of Investigative Dermatology” 6 citations
,
March 1996 in “Journal of Investigative Dermatology” 40 citations
,
December 2010 in “Human Genetics”
Variant G of the KRTAP20-1 gene improves wool curliness in Chinese Tan sheep.
13 citations
,
June 2017 in “Biochimie open” All five human steroid 5α-reductase enzymes are found in the endoplasmic reticulum.
26 citations
,
March 1995 in “Differentiation” A rabbit gene important for hair development was identified and detailed.
28 citations
,
February 2010 in “Experimental Dermatology” The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
1 citations
,
September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
119 citations
,
August 2008 in “BMC Evolutionary Biology” KRTAP genes evolved early in mammals, leading to diverse hair traits.
29 citations
,
October 2010 in “Journal of Investigative Dermatology” Activating Kras in mouse skin causes excess skin and hair loss.
41 citations
,
December 1988 in “Journal of Investigative Dermatology” 109 citations
,
February 2018 in “CB/Current biology” ERULUS controls root hair growth by regulating cell wall composition and pectin activity.
441 citations
,
May 1996 in “Journal of Cell Science” Keratin 19 helps identify skin stem cells, with its presence varying by body location, age, and culture stage.
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.
87 citations
,
January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
January 2019 in “Advances in stem cells and their niches” Krox20 is important for cell differentiation in the brain and hair follicles.
2 citations
,
August 2022 in “Animals” Different versions of the KRTAP6-2 gene in goats can lead to thinner cashmere fibers.
9 citations
,
January 2011 in “EXPERIMENTAL ANIMALS” A new rat strain with a specific gene mutation causes hair loss and kidney issues.
1 citations
,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
October 2002 in “Dermatologic Surgery” 45 citations
,
March 2001 in “Journal of Investigative Dermatology” A new protein, mK6irs, is found in specific hair layers and may help understand hair growth and diseases.
July 2025 in “Frontiers in Medicine” Baricitinib successfully regrew hair in an 8-year-old boy with alopecia totalis linked to a KRT74 gene variant.
1 citations
,
April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
KRTAP6 genes affect wool quality in sheep.
77 citations
,
April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
13 citations
,
July 1994 in “PubMed” Keratins K6 and K16 are expressed more freely in regenerating mouse skin than K1 and K10.
November 2006 in “評価・診断に関するシンポジウム講演論文集” KSR1 is crucial for certain skin tumor formation and could be a cancer therapy target.