58 citations
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June 2018 in “Scientific reports” This study identified novel genetic associations with skin phenotypes such as age-spots, freckles, and hair characteristics in Japanese women, providing insights into the genetic basis of these traits.
20 citations
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March 2014 in “Molecular Endocrinology” This study suggests that NFIB and STAT5 work together to control cell-specific genetic programs in mammalian tissues, particularly in mammary and hair follicle stem cells.
16 citations
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March 2011 in “Dermatologic Therapy” This study suggests that genetic variants in the androgen receptor gene may predict which postmenopausal women with hair loss respond to finasteride therapy.
15 citations
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April 2003 in “Journal of Dermatological Science” This study found no significant associations between the polymorphisms of SRD5A1 and SRD5A2 genes and androgenetic alopecia, clinical types of baldness, or response to finasteride in Koreans.
13 citations
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October 2024 in “Scientific Reports” In this study using data from young women in West Bengal, India, the researchers identified that leptin signaling impairment, insulin resistance, and specific gene mutations significantly contribute to PCOS, with obesity commonly manifesting in affected individuals.
11 citations
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November 2021 in “The Journal of Clinical Endocrinology and Metabolism” This study found that genetic risk factors for PCOS can lead to nonreproductive phenotypes in men, suggesting these effects are independent of ovarian function.
10 citations
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June 2024 in “Frontiers in Genetics” This study analyzed RNA-seq data from various animal breeds and suggested that similar molecular mechanisms may underlie wool fineness in different sheep breeds. Researchers identified 32 candidate genes related to hair follicle regulation, providing insights for molecular breeding and evolutionary studies.
9 citations
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June 2023 in “Human Genomics” This study found that higher levels of AR expression are linked to a decreased risk of severe COVID-19 in females, and identified ACE2, MX1, and TMPRSS2 as important molecular markers for COVID-19 management.
8 citations
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August 2022 in “BMC Veterinary Research” This study found that C57BL/6 mice and Sprague–Dawley rats show distinct distributions of eccrine sweat glands and hair follicles in their volar skin, suggesting these models should be selected according to research focus on skin appendages.
8 citations
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December 2016 in “Hormone Research in Paediatrics” This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.
7 citations
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September 2024 in “BMC Genomics” In this study, whole-genome sequencing of Lanping black-boned sheep identified ERBB4 and ROR1 genes as potentially important in their distinctive hyperpigmentation, enhancing understanding of their genetic evolution from Lanping normal sheep.
6 citations
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January 2022 in “BMC Medical Genomics” This study identified eight mutations in five genes associated with different aspects of ichthyosis among Tunisian patients, enhancing understanding of its genetic and clinical diversity.
5 citations
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May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
5 citations
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September 2012 in “Journal of Investigative Dermatology” This study found that knocking down P-cadherin expression in cultured human hair follicles recreates the hair abnormalities seen in patients with hypotrichosis with juvenile macular dystrophy.
4 citations
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February 2025 in “BMC Genomics” This study identified 71 SNPs linked to black wool traits in Qira sheep and found that specific mutations in the TYRP1 gene significantly correlate with coat color variations, providing insights for their genetic selection and conservation.
2 citations
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February 2025 in “PLoS ONE” This study used TMT-based quantitative proteomics to analyze the development of secondary hair follicles in fetal sheep, revealing increased follicle density and key proteins involved, such as COL1A1 and THBS4, indicating their potential role in wool quality traits.
2 citations
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August 2020 in “Scientific reports” This study identified genes potentially involved in the development and differentiation of skin appendages in Atelerix albiventris, noting significant enrichment of immune-related genes in hair-type tissues.
2 citations
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April 2018 in “Journal of Investigative Dermatology” This case study in a renal transplant patient observed that eruptive KA-type SCCs exhibited aggressive behavior and genetic expression changes following intralesional chemotherapy, indicating potential caution against routine use of such treatments in similar cases.
1 citations
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June 2025 in “Frontiers in Genetics” In this study, researchers identified genes IRF2BP2 and EGFR as key to understanding double-coated fleece formation in Hetian sheep, offering insights that may advance machine learning-driven multi-omics selection models in sheep breeding.
1 citations
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December 2024 in “BMC Genomics” This study used transcriptome analysis to explore the genetic mechanisms behind the development and seasonal variation of nuptial pads in R. chensinensis, identifying key genes and processes that suggest the pads' development involves complex regulatory pathways, particularly those related to cell cycle and hormone synthesis.
1 citations
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November 2023 in “Cureus” This study highlights a case of a 12-day-old female with Bloch-Sulzberger Syndrome, underscoring the need for early diagnosis based on skin symptoms to manage potential complications in other organs effectively.
1 citations
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October 2023 in “Journal of personalized medicine” In this study, researchers investigated genetic variants in pharmacogenes affecting tadalafil and finasteride pharmacokinetics, finding fed volunteers had higher drug exposure than fasting individuals, but genetic variation did not significantly impact pharmacokinetics after correcting for multiple comparisons.
1 citations
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October 2023 in “Animals” This study explored the genetic basis of fiber diameter in alpacas, identifying candidate genomic regions including four significant areas on VPA6, VPA9, VPA29, and an unassigned scaffold, using whole genome association analysis and a custom SNP microarray.
1 citations
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June 2023 in “Genes” This study highlights the genetic complexities in alopecia areata, emphasizing the role of microRNAs and their association with other immune-related diseases, which could inform targeted treatment strategies.
1 citations
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March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study examined wool traits in Angora rabbits using low-coverage whole genome sequencing, identifying six QTLs and a gene, FGF10, linked to fiber growth and diameter, suggesting a cost-effective approach for complex trait analysis in genomic breeding.
1 citations
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August 1981 in “The Journal of Dermatology” This study reported that defects in the hair cuticle were found in every case of major structural hair abnormalities examined.
August 2026 in “Frontiers in Veterinary Science” This study identified 22 genetic loci potentially linked to body weight and wool traits in Ordos fine-wool sheep, highlighting six candidate genes that could be pivotal in understanding and improving these economically important characteristics.
August 2026 in “Bogucki Wydawnictwo Naukowe eBooks” This study highlighted that advancements in genome-wide association studies have identified numerous DNA variants linked to human appearance traits, significantly enhancing our understanding of the genetic and epigenetic factors influencing human phenotypes and contributing to genomic tools for anthropology and forensics.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” In this case study, a 10-month-old minority infant from Xinjiang, China, with acrodermatitis enteropathy caused by an SLC39A4 gene mutation showed clinical improvement and increased zinc levels following zinc supplementation, highlighting the importance of early genetic testing and customized treatment in managing the disorder.
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.