130 citations
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April 2001 in “Journal of Investigative Dermatology” This study reports the first keratin gene mutation affecting the tail domain, leading to a unique cytoskeletal abnormality and severe epidermal hyperkeratosis, highlighting the tail domain's critical role in keratin organization.
87 citations
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July 2009 in “Journal of Cell Science” The researchers found that corneodesmosin is crucial for maintaining skin barrier integrity and hair follicle architecture in mice, with its deletion leading to severe skin and hair abnormalities.
55 citations
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August 2024 in “Heliyon” This review article highlights recent progress and challenges in stem cell transplantation for regenerative medicine, emphasizing its potential in tissue repair for conditions like bone and cartilage injuries, neurological disorders, and blood diseases, while stressing the importance of overcoming current obstacles for future advancements.
45 citations
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October 2018 in “JCI Insight” In a preclinical mouse model, this study found that early treatment with the selective SYK inhibitor entospletinib significantly improved survival rates and clinical outcomes for graft-versus-host disease after hematopoietic stem cell transplantation compared to placebo.
40 citations
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October 2012 in “Dermatologic clinics” This review highlights the need for a deeper understanding of the genetic mechanisms in alopecia areata to develop evidence-based treatments, but it provides no new experimental results.
37 citations
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August 2020 in “BMC Genomics” This study found that while genetic variants contribute minimally to predicting hair greying in a Polish population, age remains the primary predictor, underscoring the complexity of hair greying as a genetic trait.
35 citations
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April 2008 in “Journal of Biological Chemistry” This study found that the lack of expression and deletion of specific hair keratin genes on chromosome 7q36 in Hirosaki hairless rats suggests the crucial role of these genes in hair growth.
29 citations
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November 2022 in “Nature Medicine” This study identified thousands of variant-metabolite associations in the human plasma metabolome, offering insights into the genetic bases of metabolism and potential adverse drug effects.
29 citations
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October 2020 in “eLife” This study using Mendelian randomization in UK Biobank data suggests that lifelong increased free testosterone may have mixed effects, including increased bone density and prostate cancer risk, warranting well-powered trials to address uncertainties.
19 citations
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January 2023 in “Genes” This study identified genomic regions and genes associated with wool, live weight, body condition, and reproduction traits in Uruguayan Merino sheep, highlighting potential genetic factors influencing these characteristics.
15 citations
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January 2022 in “Immune Network/Immune network” This review summarizes the pathophysiology and immune mechanisms of inflammatory skin diseases like psoriasis and atopic dermatitis, highlighting the therapeutic potential of targeted immunotherapies, but reports no new clinical results.
13 citations
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October 2019 in “Oncology Reports” This review discusses the complex relationship between anabolic substances and colorectal cancer risk, reporting ambiguous findings on their carcinogenic properties, potential synergy with risk factors, and protective roles.
12 citations
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February 2023 in “Journal of Personalized Medicine” This review discusses the complex interplay of genetic and environmental factors in Type 1 Diabetes Mellitus and its frequent association with other autoimmune conditions, focusing on personalized medicine to potentially improve patient care.
11 citations
,
October 2022 in “Clinical Cosmetic and Investigational Dermatology” In this study, SNPs in genes affecting skin pigmentation were linked to each skin type's unique response to environmental stress, suggesting potential for personalized skin care products.
11 citations
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July 2021 in “Genetics selection evolution” This study used whole-genome sequence data to identify numerous putative causal variants and genes affecting key wool traits and skin wrinkle in Merino sheep, highlighting their polygenic and pleiotropic nature.
11 citations
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February 2011 in “International Journal of Molecular Sciences” This article reviews sPLA2-mediated phospholipid metabolism using sPLA2 transgenic/knockout mice and lipid mass spectrometry, offering insights into the distinct roles of sPLA2 enzymes in various biological events.
11 citations
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January 2010 in “Springer eBooks” 10 citations
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March 2024 in “Endocrine Reviews” In this retrospective review, the author discusses key discoveries in understanding androgen excess disorders like PCOS, focusing on genetic and molecular insights gained from 1965 to 2015.
10 citations
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July 2022 in “BMC Biology” This review discusses how sex-limited chromosomes can affect non-reproductive traits in various sex determination systems and reports no new empirical results.
9 citations
,
December 2023 in “BMC Genomics” This study examined noninvasive tissue samples, including buccal swabs, hair follicles, saliva, and urine cell pellets, and found hair follicles and urine cell pellets promising for transcriptomic and clinical analyses due to their sample quality and performance in disease-relevant applications.
6 citations
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August 2023 in “BMC genomics” This study found that Tibetan cashmere goats have genetic adaptations that contribute to their finer cashmere, possibly enhancing their ability to withstand the cold climate of the Tibetan plateau, while identifying specific genes related to hair growth, pigmentation, and heart development.
5 citations
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October 2023 in “Forests” In this study, researchers assessed the genetic diversity of 101 Ginkgo biloba individuals using EST-SSR markers and concluded that there is a high level of genetic diversity in Ginkgo populations, facilitating the construction of a core germplasm collection for breeding purposes.
5 citations
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November 2022 in “Genetics selection evolution” This study found that low-coverage whole-genome sequencing followed by imputation effectively identifies genetic variants associated with wool traits in Angora rabbits, offering a cost-efficient method for genetic research and breeding.
4 citations
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March 2024 in “Forensic Sciences Research” This review found that current forensic DNA phenotyping panels for biogeographical ancestry and visible traits face significant limitations due to inconsistencies in terminology, genetic understanding, and genotyping technologies, highlighting the need for harmonization and further research.
4 citations
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February 2023 in “iScience” This study found that unique genomic regions in Korean long-tailed chickens may contribute to their long tail feathers, offering potential for genetic advancements in ornamental chicken breeding.
2 citations
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November 2024 in “PLoS ONE” This study assessed breeding value estimation methods for Korean Sapsaree dogs, finding varied accuracy across BLUP approaches and identifying significant genomic regions affecting traits like body height and hair length. The researchers suggest these findings can enhance breeding strategies for this culturally significant breed.
2 citations
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November 2024 in “Journal of Clinical Medicine” This review suggests that vitamin D3 deficiency and the colonization of oral mucosa by *Candida* fungi may contribute to the pathogenesis of psoriasis, highlighting the potential interaction between vitamin D, microbiome imbalance, and fungal infections in the disease's progression.
2 citations
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January 2023 in “BMC plant biology” This study found that root hair length and density in rice are controlled by distinct genomic regions, with 18 regions identified but no overlap between the traits.
2 citations
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September 2020 This Mendelian randomization study reports that lifelong increased free testosterone in males was associated with improved bone mineral density and body composition but increased risks of prostate cancer, hypertension, and several other conditions.
1 citations
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July 2025 in “Frontiers in Veterinary Science” This study examined genetic adaptations in Tibetan sheep through whole-genome resequencing, identifying key genes related to hypoxia tolerance, wool color, and body size. These findings provide a foundation for future molecular breeding strategies to enhance wool quality and adaptive traits in these high-altitude environments.