4 citations
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January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” This study found that the FSHR Ser680Asn (rs6166) gene polymorphism is associated with an increased risk of PCOS in the examined population and could serve as a molecular biomarker for identifying risk.
October 2007 in “Revue du Rhumatisme” This study investigated the effects of pathological α-synuclein on sebaceous gland cells in Parkinson's disease, finding that α-synuclein exposure altered cellular differentiation and lipid production, suggesting a potential link between α-synuclein and lipid dysregulation in the skin of PD patients.
2 citations
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January 2006 in “Durham e-Theses (Durham University)” This study found that solid-state NMR combined with X-ray techniques provided critical insights into the structure and solvation of finasteride polymorphs, identifying gaps in existing patent characterizations.
June 2026 in “Biomolecules and Biomedicine” This study found that women with PCOS had higher levels of serum phoenixin isoforms, which correlated with reproductive and metabolic markers, suggesting these isoforms may have a potential diagnostic role.
39 citations
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December 2012 in “The American Journal of Human Genetics” This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
August 2025 in “ChemPhotoChem” This study demonstrated that CD anisotropy effectively distinguishes between two polymorphs of finasteride with nearly identical electronic circular dichroism spectra, using imaging and simulated spectra to uncover unique signatures that traditional methods miss.
June 2026 in “Virtual and Physical Prototyping” This study introduced a high-viscosity epoxy photoresist to enhance the fabrication of complex microstructures with monolithic integration and mechanical stability, enabling advancements in two-photon 3D printing for creating functional micro-mechanical devices.
6 citations
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April 2021 in “NAR Genomics and Bioinformatics” This study found extensive co-evolution of polyglutamine repeat lengths in neural protein clusters, highlighting their potential role in neurocognitive variation and neuropsychiatric disease development.
9 citations
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April 2020 in “Journal of dermatology” This case report describes a Thai male with TRPS1 who exhibited unique and unreported features such as hypoplastic mandibular condyles, double mental foramina, and distinctive hair abnormalities.
26 citations
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February 1998 in “Chemico-Biological Interactions” This review discusses recent molecular biology advances in the human phenol sulfotransferase gene family and reports no new results; the authors highlight its relevance for studies of endogenous and xenobiotic metabolism.
3 citations
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March 2014 in “Journal of Industrial Microbiology & Biotechnology” This study identified a cytochrome P450 enzyme, CYP-pa1 from Pseudonocardia autotrophica, as responsible for the specific hydroxylation of cyclosporin A at the 9th N-methyl leucine, suggesting potential for biotechnological applications.
5 citations
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June 2014 in “Gastroenterology report” This report describes a case of colonic adenomatous polyposis in a patient with Cronkhite-Canada syndrome, highlighting a deviation from the typically hamartomatous polyps and suggesting a need for further study.
75 citations
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October 2010 in “Mammalian genome” In this study, specific genetic polymorphisms in the KRT71 gene were associated with hairless and curly phenotypes in Sphynx and Devon Rex cats.
June 2023 in “British Journal of Dermatology” In this case report, researchers described a female child with total alopecia due to a mutation in the SNRPE gene, emphasizing the need for updated genetic testing as knowledge advances to avoid diagnostic delays in hereditary nonsyndromic hypotrichosis.
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.
June 2023 in “medRxiv (Cold Spring Harbor Laboratory)” This study found that nociplastic type pain is a complex and heritable trait, with significant genetic overlap with multisite chronic pain and some connection to rheumatoid arthritis and a neuropathic pain phenotype.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
1 citations
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January 1992 in “DNA sequence” This study found that a cuticle keratin gene in sheep is a pseudogene due to gene duplication and mutations, lacking expression in vivo.
In this study, researchers successfully synthesized a rigid 3a-arylhexahydropentalene-1,6-dione from the easily accessible starting material cyclopent-2-en-1-one, highlighting a structural motif common in natural products and pharmaceuticals.
June 2025 in “British Journal of Dermatology” This case series observed the diagnostic challenges of secondary syphilis, highlighting diverse presentations such as rashes and systemic symptoms that can mimic other conditions, underscoring the importance of dermatological review, serological testing, and interdisciplinary care for effective treatment and management.
1 citations
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January 1998 in “Cosmetics and toiletries” Both amodimethicone and dimethicone copolyol amine are effective hair conditioners.
3 citations
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April 2012 in “Bioinformation” This study concluded that specific SNPs in the TRPS1 gene significantly alter its protein structure, affecting interactions and contributing to the development of congenital hypertrichosis.
October 2023 in “Psychiatry research. Case reports” In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.
7 citations
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August 2017 in “European journal of endocrinology” This study suggests that mutations in exon 10 of the POC1A gene may be linked to a distinct clinical condition characterized by extreme insulin resistance and short stature, differing from SOFT syndrome.
November 2022 in “IntechOpen eBooks” This book summarizes the synthesis of heterocycles using various methods, including green approaches, and discusses their applications, with no new research results presented.
February 2026 in “International Journal of Homoeopathic Sciences” This paper reviews plica polonica, a rare hair disorder linked historically to poor hygiene and now to severe self-neglect or medical conditions, and outlines various treatment and preventive strategies but reports no new findings.
2 citations
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June 2014 in “مجلة مركز بحوث التقنيات الاحيائية” This study reported that patients with PCOS and thyroid hormone disturbances had specific TPO gene mutations and differing thyroid hormone levels compared to those without disturbances or healthy controls.
April 2017 in “European Psychiatry” This study found that females treated with atypical anti-psychotics had a higher prevalence of probable polycystic ovarian syndrome compared to normal controls.
This review discusses recent advances in polydopamine-based biomaterials and their growing potential in personalized medicine, but reports no new experimental results; the authors highlight both opportunities and challenges for future applications.