6 citations
,
January 2022 in “Gene” This study identified 53 keratins in the yak genome, predicting diverse phosphorylation sites and subcellular localizations, and highlighted strong gene expression correlations during the yak hair follicle development cycle.
119 citations
,
September 2000 in “Journal of Biological Chemistry” This study found that the K19 promoter is active in certain gastrointestinal cancer cells and its activity is influenced by the interaction between GKLF and Sp1 transcription factors.
6 citations
,
September 2015 in “Journal of Investigative Dermatology” This study demonstrated that RNA interference targeting mutant keratin genes can effectively correct hair shaft structural defects in a mouse model by reducing mutant gene expression.
This study in Gansu alpine fine-wool sheep identified two SNPs in the KRT71 gene that significantly affect wool length, with distinct expression patterns observed in hair follicles, suggesting KRT71 as a candidate gene for enhancing wool production traits.
99 citations
,
July 2012 in “PLoS Genetics” This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.
2 citations
,
December 2023 in “Stem Cells Translational Medicine” This study found that combining ISX-9 with mesenchymal stem cells enhanced their ability to reduce inflammation and repair lung damage in an acute lung injury model compared to using the cells alone.
13 citations
,
January 2018 in “Advances in experimental medicine and biology”
1 citations
,
December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
42 citations
,
January 2017 in “Genes” This study observed that genetic variation in the ovine KRTAP22-1 gene is linked to increased wool yield and decreased fiber curvature in sheep, indicating its potential use in breeding programs.
238 citations
,
May 1989 in “Journal of Investigative Dermatology”
January 2010 in “프로그램북(구 초록집)” Fgf9 helps create new hair follicles after injury through skin T cells.
40 citations
,
December 2010 in “Human Genetics” 15 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies KLK14 as a significant factor contributing to hair defects and skin inflammation in a mouse model of Netherton syndrome.
4 citations
,
September 2010 in “Journal of Dermatological Science” This article reviews keratosis follicularis squamosa, a keratinizing disorder predominantly found in the Japanese population, but reports no new clinical results.
34 citations
,
January 2004 in “Genomics” In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.
44 citations
,
January 2017 in “Journal of Investigative Dermatology” This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.
January 2022 in “International journal of dermatology and venereology” This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.
25 citations
,
September 2014 in “SpringerPlus” This study found that sheep possess a polymorphic KAP8-2 gene that shares high sequence identity with the KAP8-2 gene in goats and reindeer.
1 citations
,
April 2010 in “Digital WPI” This study found that CLK1 is necessary for epidermal differentiation but does not affect sebocyte differentiation in a telogen skin stem cell line.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
September 2025 in “Animals” This study identified novel genetic variations in the KRTAP22-2 gene among eight sheep breeds but found no association between these genotypes and wool fibre traits, indicating possible species-specific differences compared to goats.
1 citations
,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” This study developed a new method to analyze Cantú syndrome mutations in KATP channels, finding that while Kir6.1 mutations increase sensitivity to potassium channel openers, SUR2B mutations show reduced sensitivity, but both result in marked hyperpolarization compared to wild-type channels under basal conditions.
July 2024 in “Journal of Investigative Dermatology” In these two clinical trials, DS-2325a, a KLK5 inhibitor, was found to be generally safe and well tolerated in healthy volunteers, with mild and non-serious adverse events, suggesting its potential for further development as a treatment for Netherton Syndrome.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that the loss of SETDB1 in epidermal keratinocytes led to altered chromatin states, increased ERV expression, and activation of immune responses, while inhibiting these effects with certain antiviral drugs reduced skin inflammation and hair loss in a mouse model.
29 citations
,
October 2010 in “Journal of Investigative Dermatology” This research found that activating a KrasG12D mutation in mice led to skin thickening, papillomas, and hair growth issues, suggesting that even rare KRAS mutations can mimic human RAS/MAPK syndrome symptoms.
This study found that expression and variants of the KRT84 gene are associated with important wool traits in Gansu Alpine Fine-wool sheep, suggesting its potential use as a genetic marker for wool trait selection.
January 2024 in “Journal of camel practice and research/Journal of Camel Practice and Research” This study analyzed the KRTAP7 gene in four Indian camel breeds and found that the gene sequences were identical across breeds, with no observed SNPs in coding or non-coding regions.
9 citations
,
January 2011 in “EXPERIMENTAL ANIMALS” This study describes a novel hairless mutant rat strain, F344-Hr(krh), developed via ENU mutagenesis, which provides a model for skin disease and potentially focal glomerulosclerosis due to specific genetic mutations.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.
7 citations
,
April 2000 in “Mammalian Genome” This study identified a new mutation in SELH/Bc mice causing distinctive whisker and body hair abnormalities, mapped near the type I keratin cluster on chromosome 11.