2 citations
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October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
1 citations
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May 2004 in “Biochemical and Biophysical Research Communications” This study identified nine novel KRTAP5 family genes associated with human hair formation, demonstrating preferential expression in hair roots and suggesting their role in hair development.
24 citations
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February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two new keratin-associated proteins, hKAP1.6 and hKAP1.7, in human hair follicles, contributing to understanding hair fiber differentiation.
84 citations
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December 2018 in “Genetics in Medicine” This article reviews evidence- and consensus-based recommendations for using pegvaliase in adults with PKU and reports no new clinical results.
15 citations
,
September 2002 in “Journal of Biological Chemistry” This study observed that transgenic mice expressing keratin K10 under bovine K6beta control developed severe oral abnormalities, suggesting keratin composition changes can affect the physiology of epithelial cells, especially in the oral mucosa.
15 citations
,
January 1991 in “Mammalian Genome” 34 citations
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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.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.
17 citations
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May 2018 in “BMC genomics” This study found that miR-432 inhibits KRT83 expression, revealing potential molecular mechanisms for the formation of curly fleece in Tan sheep and suggesting implications for understanding curly hair formation in humans.
32 citations
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November 2016 in “Journal of Dental Research” This review explores the role of Panx3 in skeletal formation and discusses its potential in developing new therapies for conditions like osteoarthritis, without presenting new clinical findings.
51 citations
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January 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel keratin-associated protein, KAP24.1, which is specifically expressed in the human scalp and located in the hair cuticle.
14 citations
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May 2019 in “Human gene therapy” This study found that minicircle-based gene therapy significantly lowered total homocysteine levels and improved liver CBS activity in a mouse model of CBS deficiency.
27 citations
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November 2007 in “Genomics” This study found that mutations in type I IRS keratin genes disrupt keratin protein complexes in mice, suggesting crucial roles for these genes in proper hair coat formation.
126 citations
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October 2012 in “PLoS ONE” This study found that reduced cytokinin levels allow plants to adapt to low potassium conditions by enhancing root hair growth, reactive oxygen species accumulation, and expression of a key potassium transporter gene.
1 citations
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May 1967 in “Pediatric Research” 50 citations
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July 2008 in “British Journal of Dermatology” 48 citations
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November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that size polymorphisms in certain hKAP1 genes are linked to the hKAP1.1B and hKAP1.3 genes, arising from intragenic deletions and duplications in Japanese and Caucasian populations.
November 2025 in “PLoS ONE” This study found that synthetic RNA and DNA trigger significant increases in certain chemokines in human keratinocytes, predominantly via NF-κB activation, without evidence of alternative splicing, suggesting other regulatory pathways may be involved.
April 2017 in “Journal of Investigative Dermatology” This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.
February 2025 in “PubMed” In this study, researchers evaluated CS12192, a selective JAK3 inhibitor, in an alopecia areata mouse model and found it reversed hair growth inhibition comparably to baricitinib, with better safety and similar immune-modulating mechanisms.
8 citations
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January 2022 in “Infectious diseases News Opinions Training” This review discusses gene polymorphisms in COVID-19 patients but reports no new clinical findings.
In this study, researchers found that while most genetic variants analyzed were not associated with PCOS in Polish women, the INSR rs1799817 polymorphism may be linked to acne, a symptom of the disorder.
1 citations
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October 2022 in “Biomedicines” This study found that Prdm1 is crucial for whisker development in mice, affecting multiple signaling pathways and possibly playing a role in primates' evolutionary loss of vibrissae.
5 citations
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October 2015 in “The American journal of pathology” This study found that a spontaneous deletion in the Dsg3 gene of mice leads to hypomorphic desmoglein 3 expression, resulting in severe immunodeficiency, cyclic hair loss, and wasting disease, without causing the blistering typical of pemphigus vulgaris.
43 citations
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January 1999 in “Endocrinology” This study found that cortisol increases mac25/IGFBP-rP1 expression in osteoblast-enriched cells from fetal rat calvariae, indicating transcriptional regulation which may influence IGF and insulin effects in bone.
This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.
35 citations
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July 2010 in “The FEBS journal” In this study, researchers identified a highly reactive, isozyme-specific sequence for TGase 3, contributing to understanding its distinct functional role and activity distribution in the mouse epidermis.
9 citations
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April 2006 in “American Journal of Pathology” This study found that mutations in the Sgk3 gene cause defective hair follicle development and altered hair cycling in mice, with variable phenotypic outcomes depending on different dysfunction patterns of the SGK3 protein.
4 citations
,
October 2021 in “International Journal of Cosmetic Science” This study found that C. japonicum flower extract significantly increased melanin content and cellular activity in human melanocytes and may improve follicular depigmentation and vitiligo through cAMP signaling.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.