10 citations
,
May 2023 in “Journal of Investigative Dermatology” In this study, 21.1% of participants had actinic keratoses, with higher prevalence in men, and certain genetic and photoaging factors were positively associated with AK, though smoking was linked to reduced risk.
10 citations
,
January 2023 in “Skin Appendage Disorders” This review discusses the histological features and diagnostic challenges of alopecia areata and emphasizes the need for genetic research to develop future therapeutics; it reports no new clinical findings.
9 citations
,
December 2022 in “Genes” This study conducted a genome-wide analysis in Tianzhu white yaks, identifying differential genes associated with hair growth between long-haired and normal-haired individuals.
9 citations
,
September 2013 in “Journal of histochemistry and cytochemistry/The journal of histochemistry and cytochemistry” In this study, researchers found that the matriptase-HGF-c-MET pathway may be activated in proliferative cells of human hair follicles and sebaceous glands, suggesting a potential role in hair growth regulation.
8 citations
,
April 2017 in “Medical Hypotheses” Men with early balding may have hormonal imbalances similar to women with PCOS and could benefit from similar treatments.
6 citations
,
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.
6 citations
,
June 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that human centromeric regions exhibit large-scale haplotypes with significant diversity, including entire Neanderthal haplotypes, which may affect chromosome transmission.
5 citations
,
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.
5 citations
,
March 2017 in “Gene” This study found that the transcription factor CAP1 negatively regulates KRT83 expression in Tan sheep, possibly influencing their curly hair phenotype.
5 citations
,
January 2015 in “Case reports in medicine” In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.
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
,
July 2022 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a novel homozygous mutation in the 5'-UTR of the POMC gene, suggesting a new molecular mechanism for the syndrome of adrenal insufficiency, obesity, and red hair.
4 citations
,
August 2021 in “Pediatrics in review” This review explores disorders of sex development, emphasizing the need for a systematic, multidisciplinary approach and the benefits of genetic testing for better diagnosis and gender assignment planning, but it reports no new clinical findings.
4 citations
,
December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.
3 citations
,
March 2018 in “BMC Cancer” This study found that androgenic alopecia was associated with a decreased risk of testicular germ cell tumors but a potential increased risk of high-grade prostate cancer.
3 citations
,
November 2013 in “Journal of Stem Cells and Regenerative Medicine” This article suggests that imaging abnormalities in intestinal stem cell compartments could potentially be incorporated into colorectal cancer screening, but provides no new clinical results.
2 citations
,
June 2024 in “Frontiers in Immunology” In this study, researchers developed a 3D in-vitro system for generating functional AT-resident macrophages without cell sorting, providing a valuable tool to study their differentiation and function in various physiological and pathological conditions.
2 citations
,
December 2022 in “International Journal of Infertility & Fetal Medicine” This study found that women with PCOS who are obese had an altered lipid profile and increased waist-hip ratio compared to lean counterparts, without differences in endocrine parameters.
2 citations
,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.
This study found that women with PCOS, particularly those with the anovulatory phenotype, reported significantly lower physical health-related quality of life than women without PCOS at a tertiary hospital.
2 citations
,
January 2016 in “US Endocrinology” This study found that 27% of women with polycystic ovary syndrome reported perceived scalp hair thinning, which was associated with factors like advancing age, subjective hirsutism, disturbed sleep, smoking, abnormal glucose tolerance, and meal skipping.
1 citations
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November 2025 in “Science Advances” This research identified two genetic variants that influence the white-spotted coat patterns in Holstein-Friesian cattle, involving regulatory changes in the MITF and KIT genes, confirmed through mouse models, along with possible effects on coat patterns in other cattle breeds.
1 citations
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July 2024 in “JCEM Case Reports” This report highlights a new genetic variant of Woodhouse-Sakati syndrome in two sisters from the first identified family case in Russia, emphasizing the varied manifestations of the disorder and the importance of genetic testing for diagnosis and patient-specific treatment planning.
1 citations
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November 2023 in “Plant and Cell Physiology” This paper reports on various AI and human augmentation technologies being applied in plant biology to enhance data processing, improve research efficiency, and enable the discovery of complex biological phenomena that are challenging for humans to perceive or quantify unaided.
1 citations
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January 2023 in “Frontiers in genetics” This study identified specific genetic markers related to wool quality in Rambouillet sheep, which may aid breeders in making informed selection and breeding decisions for improved fine wool production.
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.
August 2026 in “BMC Nephrology” In this study, a young Chinese male with a specific mitochondrial mutation was reported to have proteinuria and renal dysfunction, with stable kidney function after treatment over 23 months.
July 2026 in “International Journal of Stem Cells” This review highlights that genetically engineered mouse models are valuable for studying melanoma development and progression by mimicking human skin biology, revealing key signaling pathways and molecular mechanisms that contribute to melanoma heterogeneity and offering insights into potential therapeutic targets.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” In this study, researchers propose that the EDAR V370A allele's positive selection in East Asian populations may be linked to stable aquatic resources from Late Pleistocene ecosystems in northern China, suggesting a "nutritional niche construction" framework where these resources offset the allele's metabolic costs.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study presents a hypothesis that the EDAR V370A allele was positively selected in East Asian populations due to the stable aquatic resources in Late Pleistocene northern China, which may have offset the allele's metabolic costs and provided a selective advantage.