94 citations
,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” This study describes the first case of female pseudohermaphroditism due to a novel homozygous glucocorticoid receptor gene mutation, indicating possible pre- and postnatal virilization in affected females.
85 citations
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June 2015 in “Scientific Reports” This study applied semantic text-mining to identify phenotypes linked to over 6,000 diseases, demonstrating that these phenotypes can accurately identify known disease-associated genes, creating a human disease network based on phenotypic similarity.
78 citations
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June 2013 in “Science” This study found that mice lacking the Sept4/ARTS gene had more hair follicle stem cells and improved wound healing, suggesting apoptosis regulation as a potential target in regenerative medicine.
64 citations
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August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study found that biallelic mutations in the TTC7A gene affect lymphocyte and gut epithelial cell function, thereby contributing to the development of inflammatory bowel disease in patients.
55 citations
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March 2015 in “Carcinogenesis” This study found that WNT10A is significantly upregulated in human esophageal squamous cell carcinoma and is associated with enhanced tumor cell migration, invasion, and poor survival.
53 citations
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January 2006 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, reduced androgen receptor gene methylation and shorter CAG repeats in children with premature pubarche may lead to increased hair follicle sensitivity to steroid hormones, potentially causing early pubic hair development.
45 citations
,
January 2020 in “International Journal of Molecular Sciences” This review discusses the potential of plant polyphenols to overcome multidrug resistance in various solid cancers and reports no new experimental results; further research is suggested.
45 citations
,
July 2009 in “Journal of human genetics” This study found that an SNP in the FGFR2 gene, rs4752566, was significantly associated with hair thickness in Asian populations, suggesting an effect on hair morphology through altered FGFR2 expression levels.
43 citations
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November 2019 in “PLoS ONE” This study revealed that differential gene and protein expression in the "Yufen I" H line chicken breed is crucial for Columbian plumage coloration, particularly in the melanogenesis pathway.
42 citations
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September 2015 in “Gene” This study demonstrated that FGF5s acts as an inhibitor of FGF5 in regulating hair growth cycles in cashmere goat dermal papilla cells.
40 citations
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January 2017 in “Intestinal Research” This study found that among Japanese IBD patients, the NUDT15 p.Arg139Cys variant was significantly associated with thiopurine-induced leukopenia and severe hair loss, suggesting its genotyping is important for predicting these adverse events.
40 citations
,
June 2013 in “Scientific Reports” This study found an association between a splice site variant in the KRT71 gene and curly hair in Selkirk Rex cats, identifying a significant locus on chromosome B4.
38 citations
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January 2016 in “Cell Death and Disease” This review discusses the role of the TCL1 transgenic mouse model in understanding chronic lymphocytic leukemia biology and highlights the importance of exploring new pathogenetic and therapeutic targets.
37 citations
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October 2013 in “PLoS ONE” This study provides new insights into the identification and expression patterns of miRNAs in wool follicles, which could improve understanding of wool follicle development in sheep.
36 citations
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October 2016 in “Bone” This case report describes a male patient with aromatase deficiency, revealing that a c.628G>A mutation can lead to varied clinical features, such as low bone mass and normal metabolic profiles.
33 citations
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December 2023 in “Cell Death Discovery” This study found that cepharanthine can inhibit gastric cancer cell activity by inducing oxidative stress and altering energy metabolism, suggesting its potential for gastric cancer treatment.
33 citations
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January 2018 in “International Journal of Biological Sciences” This study demonstrates the use of the CRISPR-Cas9 system to successfully edit the EDAR gene in Cashmere goats, resulting in goats with distinct hair follicle characteristics.
31 citations
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February 2014 in “Journal of dermatological science” This study found that placental growth factor (PlGF) enhanced hair shaft elongation and accelerated hair follicle growth, suggesting its potential as a therapeutic target for alopecia.
30 citations
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January 2021 in “Journal of Clinical Immunology” This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.
30 citations
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July 2019 in “PloS one” This study found that T-regulatory cells, specifically the FOXP3 CD39 subset, were significantly reduced in both circulation and hair follicles of alopecia areata patients compared to healthy subjects, suggesting potential therapeutic targets.
28 citations
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May 2017 in “Molecular ecology” This study observed that in wild snowshoe hares, gene expression patterns during seasonal coat color change show a consistent lag between gene expression and visible coat color changes.
28 citations
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February 2012 in “PLoS ONE” In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.
26 citations
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October 2017 in “Scientific reports” This study found that a bacterial endophyte from Zea nicaraguensis effectively targets and colonizes plant root hair cells, promoting growth and solubilizing insoluble phosphorus for nutrient uptake.
26 citations
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September 2010 in “Experimental Dermatology” In this study, researchers identified two independent genetic variants near the androgen receptor gene strongly associated with androgenetic alopecia in men.
25 citations
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October 2018 in “PloS one” This study explored hair follicle gene expression in Inner Mongolia Cashmere goats and identified potential regulators of the transition between growth phases, including IL17RB and ZNF genes.
25 citations
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June 2018 in “Journal of The American Academy of Dermatology” This study identified upregulation of genes linked to fibroproliferative disorders, such as platelet-derived growth factor and collagen genes, in patients with central centrifugal cicatricial alopecia, suggesting potential therapeutic targets.
25 citations
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August 2014 in “Endocrinology” This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.
25 citations
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March 2012 in “Journal of Dermatological Science” This review discusses genome-wide association studies in dermatology, noting that variants linked to risk for 10 skin complex diseases have been identified, with potential implications for diagnostics and management; it reports no new clinical results.
24 citations
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July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
21 citations
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January 2020 in “General and Comparative Endocrinology” This review examines the diverse roles of SRD5α enzymes across species, focusing on their involvement in steroid synthesis, sexual development, and various physiological processes, but reports no new clinical results.