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.
451 citations
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March 2005 in “Endocrine Reviews” This paper discusses the role of steroid sulfatase in hormone-dependent tumors and highlights the development of potent inhibitors, noting the commencement of a phase I trial for one inhibitor in postmenopausal breast cancer patients.
432 citations
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April 2014 in “Nature communications” This study found that the maternal nutritional status during early pregnancy significantly influenced epigenetic changes in offspring, as maternal diet altered DNA methylation at human metastable epialleles.
17 citations
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August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
10 citations
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June 2019 in “International Journal of Cosmetic Science” This review discusses the potential benefits of phytochemicals for hair care and emphasizes the need for more robust preclinical and clinical studies, without reporting new clinical results.
December 2021 in “Research Square (Research Square)” This study found that repeatedly collecting hair follicles from individuals with fragile X syndrome is feasible for measuring FMR1 and FMRP levels in both home and office settings.
October 2003 in “Journal of Investigative Dermatology Symposium Proceedings” Mice treatments didn't grow hair, a patient treatment may affect immune response, and people with hair loss often feel anxious or depressed.
160 citations
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December 2016 in “Journal of biophotonics” This review discusses the evolution and potential of photobiomodulation therapy, highlighting its transition from skepticism to recognition in medical research; it reports no new experimental findings.
2 citations
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November 2008 This article discusses the implementation of problem-based learning in a ninth-grade biology class in Singapore, highlighting the use of authentic, student-driven inquiries to explore topics like nutrition and health without reporting new empirical results.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional PDL affects Sonic hedgehog signaling activity, impacting PDL homeostasis.
1 citations
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November 1983 in “The Lancet” Acute leukemias with the Philadelphia chromosome may be biphenotypic, and identifying this is important for proper treatment.
4 citations
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October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” This report suggests that patients with primary spontaneous pneumothorax should be evaluated for FLCN mutations, as they may indicate Birt-Hogg-Dube syndrome and associated cancer risks.
January 2016 in “프로그램북(구 초록집)” This study found that the revised BASP classification for pattern hair loss, which addresses certain limitations of the original, could serve as an alternative option despite a decrease in clinical accuracy and ease of use.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that BBS7 is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, with changes in gene expression observed in occlusal hypofunctional PDL.
December 2021 in “Figshare” This study found that BBS7 is downregulated in occlusal hypofunctional periodontal ligament, suggesting it plays a crucial role in maintaining Shh signaling for PDL homeostasis.
December 2021 in “Figshare” This study suggests that BBS7 is crucial for maintaining PDL homeostasis by supporting Sonic hedgehog signaling activity, with occlusal hypofunction leading to its downregulation and associated tissue changes.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional periodontal ligament tissue is associated with reduced Sonic hedgehog signaling activity, potentially playing a key role in maintaining PDL homeostasis.
February 2024 in “Institutional Repository of the Federal Technological University of Paraná (RIUT) (Federal University of Technology – Paraná)” This review examines the molecular effects of photobiomodulation therapy, particularly its influence on gene and protein expression related to inflammation and cell functions, but reports no new clinical results.
April 2023 in “Journal of Investigative Dermatology” This case study reports an unusual presentation of primary cutaneous diffuse large B-cell lymphoma–leg type occurring on the upper lip of an 81-year-old woman, highlighting the need for timely recognition of atypical manifestations.
56 citations
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April 2015 in “American journal of medical genetics. Part A” This study reports on eight previously unpublished cases of Bohring-Opitz syndrome with ASXL1 mutations, suggesting the importance of screening for Wilms tumors in these patients.
39 citations
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July 2008 in “Dermatologic Therapy” This review provides a practical approach to diagnosing pseudopelade of Brocq and updates on treatment options but reports no new clinical results.
November 2022 in “Journal of Investigative Dermatology” This study identified 15 Iranian patients with PLEC variants linked to various plectinopathies and highlighted a novel association between a homozygous nonsense variant in PLEC and a rare combination of disorders including EB pruriginosa, muscular dystrophy, and congenital myasthenic syndrome.
December 2021 in “Figshare” This study found that downregulation of BBS7 in periodontal ligament cells was associated with reduced Sonic hedgehog signaling, which plays a crucial role in maintaining PDL homeostasis.
18 citations
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January 2018 in “BMC dermatology” This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.
1 citations
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January 2013 in “Lung India” This letter discusses how differentiating features in clinical and radiological findings can help distinguish pulmonary Langerhans cell histiocytosis and Birt-Hogg-Dube syndrome from lymphangioleiomyomatosis, noting overlapping symptoms but specific distinctive traits.
December 2021 in “Figshare” This study suggests that the downregulation of BBS7 in occlusal hypofunctional periodontal ligament impairs Shh signaling, which is essential for maintaining periodontal ligament homeostasis.
December 2021 in “Figshare” This study found that BBS7 is crucial for maintaining Shh signaling and periodontal ligament homeostasis, with occlusal hypofunction leading to its downregulation and impacting cell migration and angiogenesis.
1 citations
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September 2013 in “The Journal of Dermatology” An 8-year-old girl developed a rare skin condition in a linear pattern on one side of her body after a lung infection, which improved with treatment.
6 citations
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August 1993 in “Archives of Dermatology” This study found that polymorphous light eruption (PLE) may include a wide range of conditions, requiring careful differentiation from similar skin disorders such as benign summer light eruption.