74 citations
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October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.
This study used whole-genome resequencing to analyze genetic diversity and selection in 17 rabbit breeds, identifying genes linked to traits like coat color and body size, which could inform breeding and conservation efforts.
32 citations
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September 2013 in “Breast cancer research” This study identified a specific SNP in the CACNB4 gene associated with a higher risk of chemotherapy-induced alopecia in breast cancer patients, which may help develop interventions to improve their quality of life.
5 citations
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June 2008 in “British Journal of Dermatology” 148 citations
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May 2012 in “The American Journal of Human Genetics” This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.
16 citations
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January 2019 in “Aging” This study found that transgenic mice expressing a mutant CYLD protein lacking deubiquitinase function showed signs of premature aging and spontaneous tumor development, likely due to over-activation of specific molecular pathways and chronic inflammation.
28 citations
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May 2020 in “BMC plant biology” This study concluded that GLCAT14A-C genes are crucial for the function of glucuronic acid transfer to AGPs in Arabidopsis, affecting various growth and reproductive traits such as seed germination and root hair growth.
1 citations
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January 2024 in “Animal Research and One Health” This commentary highlights the potential of using transgenic and genome-edited mouse models to validate findings from livestock genomic and multi-omic analyses, aiding in the understanding of economically significant animal traits.
In this study, researchers identified the c.296C>T (p.T99I) variant in the KRT32 gene, which co-segregates with loose anagen hair syndrome, and found it decreases binding affinity to KRT82, potentially weakening hair anchorage.
February 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that distinct spiny hair morphologies in rodents arose independently multiple times but did not link the Ecdysoplasin A receptor gene mutation that affects human hair to these variations.
24 citations
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July 2017 in “Structure” In this study, researchers found that ligand homodimerization controls the receptor binding specificity of the FGF9 subfamily, preventing off-target activation of FGFR "b" isoforms.
62 citations
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December 2007 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that enzymatic conversion of Arg-51 in S100A3 protein to citrulline promotes homotetramer assembly, potentially increasing Ca²⁺ binding required for hair cuticular barrier formation.
11 citations
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September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.
July 2026 in “Frontiers in Pharmacology” This study assessed pharmacogenomic variants and chemotherapy-related toxicity profiles in Tanzanian children with cancer, reporting notable genetic diversity that may influence toxicity but did not evaluate genotype-toxicity associations.
2 citations
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September 2022 In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.
10 citations
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January 2019 in “Advances in Clinical and Experimental Medicine” This meta-analysis reported a significant association between vitamin D receptor gene ApaI polymorphism and polycystic ovary syndrome risk, with variations observed between Asian and Caucasian populations.
January 2025 in “Kuwait Journal of Science” In this study, researchers sequenced the KRT71 gene in 102 dromedary camels to find genetic polymorphisms linked to hair shape, identifying 17 variants but none that fully explained hair shape variations, suggesting other genes may also play a role.
49 citations
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January 2006 in “Developmental Dynamics” This research observed that the skeletal abnormalities in Noggin null mice varied based on genetic background, and identified haploinsufficiency leading to joint fusions, similar to human conditions associated with NOGGIN deficiency.
10 citations
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June 2021 in “Journal of Investigative Dermatology” GNPTAB gene is crucial for normal hair color in humans and mice.
February 2026 in “Small Ruminant Research” This study found that specific genetic variations in the IRF2BP2 gene influence fleece structure in sheep, with one variant completely determining coat type and another significantly modifying fiber characteristics, providing valuable insights for improving fleece quality through selective breeding.
28 citations
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February 2010 in “Experimental Dermatology” This study concluded that the frizzy mutation in mice is linked to a T to A transversion in Prss8 and is orthologous to the 'hairless' mutation in rats.
In this study, researchers successfully cloned the KAP24.1 gene from sheep to analyze its expression in skin and hair follicles, finding that Mountain-type Hetian sheep showed the highest levels of expression and that androgen concentration significantly influenced KAP24.1 protein expression.
11 citations
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June 2012 in “Acta histochemica” This study found that Gsdma3 mutations in mice led to thicker skin and longer hair infundibula, possibly by negatively regulating β-catenin expression in the epidermis.
6 citations
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January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
4 citations
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December 2016 in “Blood” This study describes a case of cyclic thrombocytopenia where a novel MPL gene mutation may contribute to the disease, with gene expression changes in platelet and neutrophil genes preceding platelet count fluctuations.
12 citations
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January 2000 in “Biochemical and Biophysical Research Communications” This study characterized the intron-exon organization of human keratin 15 and keratin 19 genes to aid future mutation detection analyses related to potential genetic disorders of keratinization.
17 citations
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June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This study found that genes in the human keratin-associated protein 1 family may have evolved mainly through gene duplication of cysteine-repeat motifs.
28 citations
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March 2010 in “British Journal of Dermatology” This abstract contains only supplementary material information and reports no new research findings.
2 citations
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April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduced a statistical method, PLACO, which revealed novel genetic regions associated with both Type 2 Diabetes and Prostate Cancer from GWAS data.
9 citations
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August 2013 in “PLOS ONE” This study validated that the 20p11 genetic locus is associated with increased risk of androgenic alopecia in the Chinese Han population, suggesting shared genetic factors between Chinese and European populations.