4 citations
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January 2009 in “PubMed” In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.
5 citations
,
June 2008 in “British Journal of Dermatology” 114 citations
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July 2003 in “PubMed” This study found that KSR1 is necessary for v-Ha-ras-mediated skin tumor formation but not for MT-driven mammary cancer, indicating its potential as a therapeutic target in Ras/MAPK signaling-related tumors.
62 citations
,
December 2007 in “Journal of Cellular and Molecular Medicine” This article reviews the role of Kremen proteins as regulators in the Wnt/β-catenin signaling pathway, highlighting their significance in development and cancer, but reports no new clinical results.
July 2025 in “Journal of Investigative Dermatology” TRIV-509 quickly improves skin barrier and cell health in atopic dermatitis.
July 2024 in “Journal of Investigative Dermatology” This study found that systemic treatment with DS77754007, a KLK5 inhibitor, improved skin symptoms in a mouse model of Netherton Syndrome more effectively than certain antibody treatments, suggesting KLK5 inhibition as a promising therapeutic approach for this condition.
38 citations
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January 2014 in “Journal of Dermatological Science” This study found that Krtap11-1 may play an important role in keratin-bundle assembly in the hair cortex, influencing the physical properties of hair.
49 citations
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October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
35 citations
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October 2002 in “Biochemical and Biophysical Research Communications” This study reports that K7 expression patterns observed in mice are similar to those in humans, revealing previously unreported expression in the gastrointestinal tract, tongue, and various "hard" epithelial tissues.
3 citations
,
January 2023 in “American journal of physiology. Cell physiology” This editorial reviews the roles and therapeutic potential of inward rectifying K+ channels in various physiological processes, highlighting their importance in health and disease but provides no new experimental results.
1 citations
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September 2024 in “Animals” In this study, researchers identified six unique genetic variants of a sheep gene, KRTAP19-3, with specific variants linked to changes in wool fibre traits, such as increased fibre diameter variability, suggesting these genetic differences affect wool characteristics in Chinese Tan sheep.
1 citations
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November 2023 in “Rice” This study found that PRX102, a peroxidase with a unique polar localization pattern, plays a role in root hair growth by aiding the transport of materials to the tips of growing root hairs.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
29 citations
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July 2015 in “Journal of Medical Genetics” This study identified a new gene involved in woolly hair by linking a homozygous variant in KRT25 to autosomal recessive woolly hair in two Pakistani families.
July 2025 in “Clinical Case Reports” In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.
10 citations
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April 2013 in “Journal of Investigative Dermatology” This study reports a semidominant inheritance of epidermolytic ichthyosis due to a KRT1 mutation, which was previously thought to be only inherited dominantly.
7 citations
,
April 2004 in “International Journal of Dermatology” This report describes a case of epidermolytic hyperkeratosis in a newborn and her mother, both possessing a specific KRT1 gene mutation known to cause this skin disorder.
46 citations
,
December 1998 in “Journal of Biological Chemistry” This study found that keratin 19, unlike keratin 14, forms less stable filaments with keratin 5, suggesting distinct assembly properties and potential unique roles in skin basal cells.
60 citations
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August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
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.
25 citations
,
April 2019 in “Animals” In this study, KRTAP28-1 variants were associated with wool fibre diameter in sheep, suggesting potential as a gene marker for reducing fibre diameter.
4 citations
,
October 2003 in “Annales de Génétique” This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.
9 citations
,
June 2024 in “Cell Reports” This study found that hair follicles play a significant role in regulating skin barrier function, with disruptions in the upper hair follicle affecting the epidermis, influencing processes like desquamation and sebum release, and leading to cell movement into the epidermis.
April 2023 in “Cancer research” This study suggests that KRTAP2-3 may serve as a novel biomarker to identify cells in the polyaneuploid cancer cell state, which is linked to therapy resistance and poor prognosis in prostate cancer.
April 2024 in “Anais Brasileiros de Dermatologia” January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
1 citations
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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.
15 citations
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May 2014 in “Journal of Biological Chemistry” In this study, targeting the expression of a keratin KRT5/KRT8 chimeric cDNA in keratin-deficient mice partially restored structural defects in epidermal cells, but did not fully normalize skin health.
66 citations
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June 2001 in “Gastroenterology” In this study, K19-lacZ transgenic mice exhibited epithelial-specific reporter gene expression in tissues such as the pancreas and stomach, suggesting the K19 promoter is a valuable tool for studying epithelial cell biology.
65 citations
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September 2014 in “BMC genomics” This research found that variations in the KRTAP gene family are likely responsible for the diverse hair phenotypes seen among mammals, influenced by gene repertoire differences, expression, and evolutionary factors.