December 2020 in “Research Square (Research Square)” This study identifies a strong association between a 505-bp indel mutation in the FGF5 gene and cashmere growth in goats, suggesting potential use as a genetic marker in breeding programs.
March 2026 in “Oral Presentations” This abstract reports pooled safety data from the WILLOW study for participants with cutaneous lupus erythematosus and systemic lupus erythematosus but does not provide new findings.
This study used quantitative methods to identify new geometric and mechanical parameters of curly and kinky/coily hair, aiming to improve classification and develop better personal care products for these hair types.
April 2019 in “Journal of Investigative Dermatology” This study reported that mSKPs and DMSCs share similarities in biological characteristics but exhibit distinct transcriptome profiles, with mSKPs being more immune-related and DMSCs more associated with differentiation and disease pathways.
July 2022 in “Fayoum University Medical Journal” This paper discusses polycystic ovarian syndrome (PCOS) and reports no new results; the authors highlight the complexity and heterogeneity of this endocrine disorder.
30 citations
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January 1997 in “ILAR Journal” This review details the development and genetic background of senescence-accelerated mouse strains, provides a comprehensive examination of their phenotypes, and highlights their importance for aging research, but reports no new experimental results.
January 2023 in “International journal of medical science and health research” This study found that anovulatory PCOS patients were younger, had longer menstrual cycles, and higher systolic blood pressures compared to ovulatory patients.
April 2016 in “Journal of The American Academy of Dermatology” Both atopy and eosinophilia are linked to more severe hair loss in people with alopecia areata.
60 citations
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August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
50 citations
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January 2016 in “The Journal of Clinical Endocrinology and Metabolism” This study found that miRNA expression profiles in follicular fluid are altered in women with PCOS, with certain miRNAs potentially useful for distinguishing patient subtypes and contributing to understanding PCOS heterogeneity.
42 citations
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December 2016 in “Cell Death & Differentiation” This study found that transient mtDNA double strand breaks in mice accelerated aging in certain tissues through increased reactive oxygen species, independent of p21/p53 pathway mediation.
15 citations
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April 2022 in “Ginekologia Polska” Higher thyroid hormone levels may be linked to certain types of polycystic ovary syndrome.
15 citations
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May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
13 citations
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March 2020 in “Genes” This study found that FGF5-/- rabbits exhibited a significant long hair phenotype by prolonging the anagen phase, suggesting FGF5 acts as a negative regulator of hair growth.
7 citations
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March 2022 in “Scientific reports” In this study, researchers found that pigs with genetically disrupted ANTXR1 were resistant to Senecavirus A infection, showing no clinical symptoms, and provided a model for human GAPO syndrome, while confirming ANTXR1 as a receptor for the virus.
5 citations
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October 2022 in “Frontiers in Genetics” This study presents the first documented case of a woman with Alström syndrome successfully conceiving and giving birth, highlighting the importance of managing systemic comorbidities during pregnancy.
4 citations
,
June 2024 in “Animals” This review examines the genetic factors influencing coat color in horses and donkeys, highlighting key genes like MC1R, TYR, MITF, ASIP, and KIT, and discusses implications for selective breeding and the relationship between coat color and specific equine diseases.
4 citations
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October 2020 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This study suggests that IL-4 and IL-13 may play a role in the immunopathogenesis of alopecia areata in some patients, indicating a possible Th2-driven pathway in this condition.
4 citations
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September 2013 in “Expert Review of Endocrinology & Metabolism” Different types of polycystic ovary syndrome show varying levels of insulin resistance, with the 'PHO' type being the most insulin resistant.
2 citations
,
November 2018 in “International journal of gynaecology and obstetrics” In this retrospective cohort study, no significant differences were observed in assisted reproductive outcomes among different PCOS phenotypes undergoing frozen-thawed embryo transfer.
1 citations
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July 2025 in “Cancer Medicine” This study observed that colorectal cancer tumoroids adapted to an environment without a matrix by developing disordered self-assembly, but their tumor-specific phenotypes and drug sensitivity remained unchanged.
1 citations
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December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
1 citations
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May 2023 in “The Journal of Immunology” In this animal study, researchers discovered that CD4 T cells from mice with alopecia areata can induce the disease more efficiently than those from unaffected mice, likely by supporting CD8 T cell activation and hair follicle attack.
June 2026 in “International Journal of Reproduction Contraception Obstetrics and Gynecology” This study found that serum Anti-mullerian hormone (AMH) levels are significantly elevated in women with polycystic ovary syndrome and can serve as a useful biomarker for diagnosis, especially when ultrasonography is unavailable.
January 2025 in “Diagnostics” In this prospective case-control study, researchers found that women with any phenotype of polycystic ovary syndrome exhibited increased retinal nerve fiber layer and choroidal thickness compared to healthy controls, with changes correlated to body mass index.
February 2024 in “BMC genomics” This study identified a gene variant in the TRPV3 gene that may explain the suri alpaca phenotype, characterized by longer and less crimped fleece, suggesting this variant's involvement in the development of these hair characteristics compared to the huacaya phenotype.
688 citations
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June 2007 in “Cell Stem Cell” This study found that deleting the ATR gene in adult mice led to rapid onset of age-related traits such as hair graying and osteoporosis through reduced regenerative capacity.
2 citations
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December 2014 in “Experimental Dermatology” In this study, overexpression of Wnt5a in transgenic mice did not produce psoriasis-like skin changes but affected hair follicle cycling, suggesting its potential relevance to hair disorders rather than psoriasis.
May 2026 in “Frontiers in Medicine” This study describes a patient with Rothmund–Thomson syndrome-like symptoms who displayed hair improvement after combination therapy, despite carrying an ANAPC1 gene variant of uncertain significance.
In this case report, researchers describe a 22-year-old male with a unique presentation of Senior-Løken Syndrome due to a NPHP4 mutation, exhibiting atypical symptoms like cryptorchidism, alopecia, and potential syndromic overlap with Rothmund-Thomson Syndrome, suggesting complex genetic interactions and expanding the phenotypic spectrum of ciliopathies.