120 citations
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June 2008 in “American Journal of Epidemiology” This study reported a 6.3% prevalence of PCOS among women in a Sri Lankan community, with most cases presenting as oligo/amenorrhea and polycystic ovaries.
13 citations
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July 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified four drugs, including brequinar and abiraterone acetate, that inhibited SARS-CoV-2 infection in vitro, providing potential candidates for repurposing to treat COVID-19.
September 2024 in “International Journal For Multidisciplinary Research” This study highlights the significant pharmacological potential of Tridax procumbens, a plant with various therapeutic properties such as liver protection, immune modulation, and wound healing, though it notes that more research is needed to identify its active compounds and mechanisms for drug discovery.
January 1995 in “Adolescent and pediatric gynecology” This article reviews genetic and phenotypic aspects of androgen insensitivity syndromes, emphasizing the diversity of mutations that complicates molecular screening and the importance of genotype-phenotype correlations.
2 citations
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July 2021 in “Genes” This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.
53 citations
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September 2014 in “Reproductive Biology and Endocrinology” This study observed that among women with polycystic ovary syndrome, those with the most severe phenotype showed the highest levels of metabolic disturbances, indicating the need for metabolic screening in these cases.
2 citations
,
June 2021 in “Research Square (Research Square)” This study identified a novel missense mutation in the FGF5 gene associated with the longhair phenotype in about 3% of Maine Coon cats, suggesting it may be a breed-specific variant.
2 citations
,
July 2022 in “Journal of the Endocrine Society” This study identified several rare genetic variants related to insulin resistance in women with PCOS, highlighting the potential for monogenic conditions in patients with extreme or atypical phenotypes.
14 citations
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March 2018 in “The American journal of case reports” This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.
9 citations
,
March 2022 in “Frontiers in Endocrinology” This study found that PCOS is common among Iranian women, with phenotypes involving hyperandrogenism exhibiting worse lipid profiles and higher rates of metabolic syndrome compared to healthy women.
50 citations
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April 2014 in “Nature Communications” This study analyzed skin from 538 knockout mouse mutants and identified 50 with epidermal phenotypes, providing valuable insights into genetic conditions and systemic effects related to skin abnormalities.
15 citations
,
February 2014 in “PloS one” This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.
1 citations
,
October 2022 in “PubMed” This study identified 674 differentially expressed proteins in the skin tissues of male and female Chinese merino sheep, suggesting gender-specific molecular mechanisms that may affect wool traits.
April 2023 in “Advanced functional materials” This study created a Wnt3a protein gradient using Multiphoton Microfabrication technology, which improved hair-inductive properties in mouse and human hair dermal papilla cells, suggesting potential applications in hair regeneration research and drug screening.
767 citations
,
September 2016 in “Human Reproduction” This review analyzes the reported prevalence of polycystic ovary syndrome (PCOS) based on different diagnostic criteria but does not provide new clinical results.
31 citations
,
January 2014 in “Clinical Endocrinology” This study found no significant differences in metabolic characteristics between different phenotypes of PCOS or between women with PCOS and healthy controls among reproductive-aged Iranian women.
March 2009 in “The Journal of Urology” This study found that some cancer cells exhibit neuronal-like characteristics, which may serve as a mechanism of resistance.
286 citations
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January 2009 in “Human Reproduction Update” This study reports that NIH PCOS is linked to more severe metabolic issues, including higher obesity and insulin resistance, compared to non-NIH PCOS phenotypes.
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.
1 citations
,
December 2015 in “Balkan Journal of Medical Genetics” This study found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.
January 2023 in “Pediatrics International” This case study describes the diagnosis and treatment of a Japanese girl with non-classical 21-hydroxylase deficiency, highlighting the normalization of testosterone and control of clitoromegaly after hydrocortisone therapy, but continued overgrowth issues.
This case report details a child with a specific TNFAIP3 mutation manifesting as a severe SLE/SS phenotype, expanding the known phenotype for this genetic variant.
1 citations
,
June 2021 in “Journal of gynecology and womens health” This study found that the prevalence of polycystic ovarian syndrome among women of reproductive age in urban and rural areas of Hyderabad, Telangana, is between 6.5% and 6.8%.
62 citations
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January 2010 in “Hormone research in paediatrics” This study found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.
July 2026 in “Journal of Recent Advances in Applied Sciences (pISSN 0970-1990)” This study found that subclinical hypothyroidism was present in nearly 19% of women with polycystic ovarian syndrome, with no significant associations between thyroid dysfunction and most clinical features, but higher prevalence noted in those with hair loss and heavy menstrual bleeding.
33 citations
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May 2015 in “JAMA Dermatology” This study identifies comedonal or cystic fibrofolliculomas as novel diagnostic clues for earlier recognition of Birt-Hogg-Dube syndrome, potentially facilitating timely surveillance of associated systemic complications.
This study protocol aims to explore the prevalence of polycystic ovary syndrome among female pediatric patients with spina bifida, focusing on metabolic and phenotypic differences, but reports no new results yet.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” This case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.
257 citations
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July 2018 in “Obstetrics & Gynecology” This review discusses the various phenotypes and diagnostic challenges of polycystic ovary syndrome, highlighting its complex pathophysiology and associated health risks, and reports no new clinical results.
6 citations
,
August 2024 in “Biomacromolecules” This study introduces a novel in vitro model for clubfoot fibrosis to enable high-throughput drug screening and found that while the model increased collagen deposition, the antifibrotic drug minoxidil effectively inhibited the expression of collagen cross-linking enzymes.