3 citations
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July 2015 in “International Journal of School Health” This study found that in a sample of female adolescents in Shiraz, the most common PCOS phenotype was hyperandrogenic with polycystic ovary syndrome, warranting further investigation due to associated risks.
2 citations
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August 2022 in “Middle East Fertility Society Journal” This study found that combining fructose and DHT in rats successfully mimicked the clinical phenotypes of non-lean PCOS, providing a novel rodent model for this condition.
2 citations
,
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.
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.
In this study, researchers observed that atopic dermatitis may alter the appearance of allergic patch test reactions, demonstrating specific patterns like perifollicular erythema and yellowish areas that could aid in interpreting patch tests using dermoscopy, particularly in ambiguous cases.
April 2023 in “International journal of molecular sciences” This study found that scalp disorders, such as hair loss and itching, can be associated with collagen VI mutations, thus highlighting the need to investigate scalp involvement in these patients.
June 2003 in “Obstetrical & Gynecological Survey” This study observed that the size of vaginal prolapse in patients was significantly related to both the preoperative vaginal length and the length of vaginal excision during the Michigan four-wall sacrospinous suspension procedure.
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.
March 2025 in “Experimental Dermatology” This study found that transgenic mice overexpressing IKZF1 developed lesions similar to alopecia areata, suggesting that Ikaros may play a role in the disease's pathogenesis. Ikaros expression was also higher in human alopecia areata patients compared to controls.
January 2025 in “Fìzìologìčnij žurnal” This study found that in patients with elevated fibrinogen levels undergoing revision rhinoplasty, PDRN decreased M1 cytokines and increased M2 cytokines, potentially offering a new therapeutic approach, but further research is needed to understand its mechanisms and effects fully.
November 2022 in “Journal of Investigative Dermatology” This study found that dysregulation of the DNA damage response in stem cells is a common factor of aging, affecting tissues like the skin, brain, kidneys, and intestine.
September 1999 in “Molecular Carcinogenesis” This study reported that overexpressing ornithine decarboxylase in C57Bl/6 mice increased their sensitivity to tumor promotion by TPA, a change reversible by doxycycline treatment.
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.
10 citations
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August 2024 in “Neuroscience & Biobehavioral Reviews” This review discusses the role of neuro(active)steroids, particularly those in the 5α reductase pathway, in modulating dopamine signaling and their impact on neuropsychiatric disorders characterized by dopamine imbalances, including addiction, schizophrenia, and Parkinson's Disease.
62 citations
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October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
6 citations
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May 2012 in “Archives of Dermatological Research” This study reports a novel missense mutation in the HR gene in a 68-year-old Hungarian woman with alopecia universalis and limb deformities, suggesting a need for further research on its role in these conditions.
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.
Results are not reported in this abstract, which notes that while Janus kinase inhibitors like baricitinib show therapeutic benefits for alopecia areata, the mechanisms and reliable predictors of response remain unclear.
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.
8 citations
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January 2011 in “Experimental and Therapeutic Medicine” This review summarizes the characteristics of the peri-malignant melanoma stroma, indicating its potential role in early dermal metastatic migration and increased metastasis risk.
June 2023 in “GSC Advanced Research and Reviews” This review covers the history, symptoms, and treatment progress for Hutchinson-Gilford Progeria Syndrome, noting that while no cure exists, understanding its molecular mechanism may improve future treatment strategies.
June 2026 in “Biomedical and Therapeutics Letters” This review discusses AMH and ovarian morphology as complementary markers in diagnosing PCOS/PMOS and reports no new clinical results, highlighting the need for a multidomain approach in diagnosis and treatment.
54 citations
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November 2017 in “Scientific Reports” In this study, researchers observed that hyperandrogenic PCOS patients exhibited distinct miRNA and TGFβ signaling gene expression patterns in granulosa cells, suggesting these factors may play a role in PCOS pathogenesis.
28 citations
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April 2014 in “Hormones” This study found that increased serum A4A levels were associated with more severe polycystic ovary syndrome phenotypes and could be a useful marker for biochemical hyperandrogenemia.
8 citations
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October 2010 in “Scandinavian Journal of Clinical & Laboratory Investigation” This study found that normal ALT levels in women of reproductive age are linked with metabolic and androgenic abnormalities, suggesting ALT could be used beyond liver disease diagnoses.
5 citations
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August 2021 in “Experimental dermatology” This study suggests that Merkel cell polyomavirus T antigen-positive cells resembling Merkel cell carcinoma may originate from epithelial cells in human hair follicles, potentially informing future transgenic mouse models for this cancer.
1 citations
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April 2018 in “Rheumatology” This study found that 59.7% of lupus patients self-reported alopecia, which was linked to anti-Ro antibody presence and cutaneous SLE symptoms but not to age, ethnicity, or medication.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
June 2023 in “International Journal of Research in Medical Sciences” This case report describes the first confirmed instances of X-linked adrenomyeloneuropathy/adrenoleukodystrophy in two brothers from Bangladesh, noting their progressive neurological symptoms, MRI findings, and differing disease outcomes over several years of observation.