3 citations
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October 2021 in “Turkish Journal Of Neurology” This study identifies novel genetic variants in the NOTCH3 and HTRA1 genes associated with CADASIL and CARASIL, highlighting their potential in supporting clinical diagnosis and informing treatment strategies.
3 citations
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March 2017 in “International journal of women’s dermatology” This review discusses genetic skin diseases in humans and animals, offering a resource for memorization and exploring animal models' role in understanding human disease mechanisms; it reports no new clinical results.
3 citations
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July 1990 in “Acta dermato-venereologica” This case report describes hair regrowth in a 73-year-old male who had been bald for decades, which might be associated with the antiandrogenic effects of spironolactone.
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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December 2024 In this study, the researchers observed that the evolution of Curtobacterium flaccumfaciens pv. flaccumfaciens, which causes tan spot in Australian mungbeans, is driven by clonal expansion from existing genetic variations, emphasizing the need for informed breeding strategies to manage resistance against this pathogen.
2 citations
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July 2024 in “Skin Research and Technology” Copper may protect against alopecia areata, while certain inflammatory markers increase risk.
2 citations
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March 2024 in “International Journal of experimental research and review” This study found that more than 14% of idiopathic recurrent early pregnancy loss cases were associated with chromosomal heteromorphisms, predominantly 9qh+, suggesting a genetic component in these unexplained cases.
2 citations
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October 2023 in “Frontiers in Immunology” In this study, researchers used Mendelian randomization to find a significant genetic association between rheumatoid arthritis and an increased risk of alopecia areata, suggesting RA patients should be vigilant for potential AA development.
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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May 2018 in “Expert opinion on orphan drugs” This review discusses Omenn syndrome, a form of severe combined immunodeficiency, highlighting its immunopathology and genetic defects without presenting new clinical results.
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.
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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January 2025 in “Frontiers in Immunology” In this study, researchers found that cytokine dysregulation linked to genetic background is present in both patients and healthy but genetically related individuals in two autoimmune skin diseases, Pemphigus vulgaris and Alopecia areata, suggesting that protective immune mechanisms may prevent disease manifestation in predisposed individuals.
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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July 2024 in “Journal of Medical and Life Science” In this review, researchers examined the complex interaction of hormones, genes, and reactive oxygen species in hirsutism and PCOS, highlighting prolactin's role in modulating hormone levels linked to hair growth disorders.
1 citations
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April 2024 in “Science Advances” In this study, researchers found that the female plumage color variations in the common cuckoo are linked to the female-restricted genome and suggest this pattern is maintained by balancing selection, sharing ancestry with the oriental cuckoo.
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 “Frontiers in endocrinology” This study found that sex hormone-binding globulin promotes facial aging, while sex steroid hormones such as testosterone and estradiol inhibit it, with growth hormone levels showing no significant effect.
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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May 2023 in “European Journal of Human Genetics” This study observed that numerical chromosomal aberrations were more common in men with severe male factor infertility and azoospermia compared to those with other sperm quality issues, while chromosomal translocations were significantly associated with oligoasthenozoospermia, highlighting important genetic counseling considerations.
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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January 2022 in “Springer eBooks”
1 citations
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September 2019 in “Practica medicală” This article discusses the challenges in treating androgenic alopecia and highlights its potential links to coronary heart disease and metabolic syndrome but reports no new clinical findings.
1 citations
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November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
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 “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.
November 2025 in “BMC Genomics” This study identified genetic differences between Australian White Sheep and Hu Sheep that may explain their distinct pelage types, with a focus on subcutaneous adiposity and immunoregulation. The findings suggest potential targets for breeding climate-resilient sheep, enhancing our understanding of heat tolerance in these breeds.
November 2025 in “npj Breast Cancer” In this study of women with breast cancer undergoing chemotherapy and scalp cooling, 12% experienced incomplete hair regrowth at 6 months, with tamoxifen therapy identified as a significant risk factor for persistent chemotherapy-induced alopecia.
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.