15 citations
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April 2024 in “Animals” This study examined cashmere goats using whole-genome resequencing data and found that the Inner Mongolia cashmere goat had the lowest inbreeding coefficient, with genes identified linked to fiber, fertility, disease resistance, and growth, which can inform future breeding efforts.
15 citations
,
October 2019 in “BMJ Open” This protocol outlines a nationwide study to investigate the prevalence of metabolic and reproductive abnormalities, anxiety, and depression in Brazilian women with polycystic ovary syndrome, aiming to inform public health strategies.
13 citations
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April 2018 in “Scientific Reports” In this study, genetic variants in the KRT25 and SP6 genes were found to be responsible for curly hair in horses, with the KRT25 variant also causing hypotrichosis due to an epistatic effect.
12 citations
,
August 2022 in “Biochemical Journal” This review discusses the mechanisms of skin-associated cell death and their potential role in treating inflammatory skin diseases, but presents no new clinical findings.
10 citations
,
September 2021 in “American Journal of Medical Genetics Part A” This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.
9 citations
,
February 2022 in “Biomolecules” This review concludes that while many epidemiological studies suggest high alcohol intake is associated with an increased risk of prostate cancer, the evidence may be affected by confounding factors such as diet and lifestyle.
8 citations
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May 2025 in “Biomolecules” This review highlights the evolution of forensic genetics from basic DNA analysis to complex genome-wide studies, enabling insights into personal traits, ancestry, and habits, and suggests future advancements through technologies like CRISPR and AI.
8 citations
,
September 2022 in “Human genomics” This study identified a coexpression network and key genes associated with thyroid eye disease, potentially aiding in its treatment and diagnosis.
7 citations
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November 2023 in “Microorganisms” This study suggests that the intestinal microbiota may have protective effects against celiac disease by degrading gluten and maintaining intestinal barrier integrity, but disruptions in the microbiota can exacerbate the disease.
7 citations
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February 2019 in “Veterinary medicine and science” This study reports the first identification of the deleterious NIPAL 4 variant, associated with autosomal recessive congenital ichthyosis, in an American Bully and describes its clinical management and follow-up.
6 citations
,
September 2024 in “Journal of Clinical Medicine” This review explored the relationship between autoimmune thyroiditis and various autoimmune skin conditions, highlighting shared genetic markers and immunological mechanisms, such as disrupted immune tolerance and oxidative stress, which may contribute to the development of these disorders.
4 citations
,
August 2023 in “Journal of Investigative Dermatology” Certain genes influence the direction of hair whorls on the scalp.
3 citations
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October 2024 in “Animals” In this proteomic analysis, the researchers found that transitioning from crimped to straight wool in Tan sheep is linked to significant changes in wool protein expression, revealing distinct patterns of keratins and keratin-associated proteins that could influence wool quality and economic value.
2 citations
,
January 2023 in “Journal of Clinical Medicine” This review discusses the links between different types of alopecia and thyroid disorders, highlighting some shared autoimmune factors, but reports no new clinical results.
2 citations
,
July 2022 in “Frontiers in Medicine” This review discusses the current understanding of frontal fibrosing alopecia's pathogenesis, highlighting genetic susceptibility, immune response involvement, and possible links to steroid hormones, but reports no new clinical results.
1 citations
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August 2025 in “Genes” This study identified genetic variations that could serve as candidate markers for improving body conformation traits in Kazakh fat-tailed coarse-wool sheep through marker-assisted selection.
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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November 2013 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” This article reviews the presentations from the First Symposium of Ichthyosis Experts in Spain, held to address the challenges in organizing care for ichthyosis patients, and reports no new clinical results.
February 2026 in “Applied Biosciences” In this study, a computational analysis of promoter regions in human fertility-related genes identified several new candidate regulatory motifs, but these require further experimental validation due to the limitations of being an in silico examination.
January 2026 in “BMC Veterinary Research” The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.
This study found that integrating machine learning enhances the predictive accuracy of forensic DNA phenotyping from low template DNA, achieving high accuracy for traits like eye color, although challenges remain for admixed populations and complex traits.
This review discusses forensic DNA phenotyping and its potential applications, particularly for human identification in Latin American populations, but notes challenges due to genetic diversity and reports no new results.
October 2025 in “Cosmetics” This study examines the genetic underpinnings of chronic dermatological conditions like acne, androgenetic alopecia, and alopecia areata, concluding that a deep understanding of these mechanisms can advance patient-specific treatments and inform cosmetic practices related to skin and hair health.
This study conducted a genome-wide association analysis on 1,125 ewes and identified 24 SNPs associated with wool production traits, and highlighted potential candidate genes like ADAR and TP53 for further research into the genetic mechanisms influencing wool growth in sheep.
This review highlights the increasing global incidence and broad socio-economic impact of celiac disease, emphasizing the need for improved recognition and management to address its multidimensional implications, including comorbidities and dietary challenges.
This research developed a pig graph pangenome assembly of 27 genomes, revealing the importance of structural variations in adaptation and breed-specific traits, with BTF3 identified as a key gene influencing intramuscular fat and meat quality.
September 2024 in “Genes” This study found significant genetic differences between pigs with and without hair whorls, suggesting potential implications for pig breeding strategies in China.
April 2024 in “Human genomics” This study identified MPB susceptibility genes and potential drug candidates that may help uncover molecular mechanisms and address male-pattern baldness.
January 2024 in “Biomedicines” This review discussed the cutaneous manifestations of APECED, highlighting chronic mucocutaneous candidiasis, alopecia areata, and vitiligo, while emphasizing the importance of early detection and monitoring for accurate diagnosis and patient care in various populations.
May 2023 in “IntechOpen eBooks” This review outlines the role of testosterone in male sexual development and its therapeutic use for male hypogonadism, covering its biosynthesis, secretion, metabolism, and various biological actions, but does not report specific study results.