This study found that the survival and proliferation of mouse melanocytes expressing the GNAQQ209L oncogene were impaired by interactions with the epidermal microenvironment, suggesting a possible mechanism for the rarity of these mutations in epidermal melanomas.
This study found that GNAQQ209L expression in mouse melanocytes led to reduced survival in the interfollicular epidermis due to paracrine signaling, while GNAQQ209L boosted survival in a different microenvironment.
In this case report, researchers diagnosed a 12-year-old girl with a nevus sebaceus of Jadassohn, characterized by a yellowish-pink plaque on the scalp and a genetic variant, following previous misdiagnosis as alopecia areata.
2 citations
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November 2011 in “InTech eBooks” This article reviews the types and characteristics of adrenal cortex tumors, including their hormone secretion and detection as incidental findings, but presents no new research results.
This study found that in mice, the epidermal microenvironment reverses the oncogenic effects of GNAQQ209L in melanocytes, inhibiting their survival and proliferation through paracrine signals.
1 citations
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November 2022 in “Diagnostics” This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.
5 citations
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May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
4 citations
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February 2025 in “BMC Genomics” This study identified 71 SNPs linked to black wool traits in Qira sheep and found that specific mutations in the TYRP1 gene significantly correlate with coat color variations, providing insights for their genetic selection and conservation.
9 citations
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August 2024 in “International Journal of Molecular Sciences” This review explores epidermolysis bullosa simplex subtypes caused by mutations in KRT5 or KRT14 and summarizes gene expression patterns and molecular mechanisms, without presenting new experimental results.
21 citations
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February 2013 in “Clinics in Dermatology” This review discusses recent developments in targeted melanoma therapies, including BRAF/MEK/ERK pathway inhibitors and challenges like resistance and skin toxicities, but reports no new clinical results.
11 citations
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March 2020 in “American Journal of Medical Genetics Part A” This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.
92 citations
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December 2016 in “Scientific Reports” This study identified genomic regions and candidate genes that may contribute to phenotypic diversity in coat color, body size, cashmere traits, and high-altitude adaptation in domesticated goat breeds.
9 citations
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December 2020 in “International Journal of Medical Sciences” This article reviews the development and use of induced pluripotent stem cell models and artificial organoids for studying neurodevelopmental disorders, but it reports no new clinical findings.
37 citations
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November 2017 in “Medical Sciences” This study suggests that melanoma tumor cells exhibit intrinsic plasticity, challenging the applicability of the cancer stem cell model to this malignancy.
November 2024 in “International Journal of Molecular Sciences” In this review, the authors discuss how hair may protect against scalp skin cancer by enabling IL-17-biased immunosurveillance, while hair loss could permit tumor development by reducing this immune protection.
October 2024 in “Preprints.org” This review by two dermatologists suggests that hair on the human scalp may protect against skin cancer not just physically, but by enabling IL-17 immune surveillance, with hair loss potentially leading to increased tumor growth due to reduced immunosurveillance.
September 2024 in “Preprints.org” In this review, the authors propose that hair on the scalp may protect against non-melanoma skin cancer by maintaining an IL-17 biased immunosurveillance, with hair loss potentially increasing the risk of skin cancer due to disrupted immune monitoring.
1 citations
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November 2021 in “Biomedicines” This review elaborates on the concept of cutaneous mosaicism and its link to acneiform conditions, but it reports no new clinical results.
April 2020 in “Journal of the Endocrine Society” This case report describes a rare occurrence of giant bilateral adrenal myelolipomas in a 28-year-old female with CAH, emphasizing that large, hormonally active, or painful myelolipomas should be surgically removed.
4 citations
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November 2017 in “Scientific Reports” This study compiled an archive of 684 genes associated with monogenic hair disorders, identifying previously unrecognized components of Hippo signaling and proposing a new biologically-grounded disease taxonomy.
11 citations
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December 2018 in “Bone” This study found that a high-energy shock wave can increase osteogenic activities in human mesenchymal cells, offering insights into potential therapeutic targets for trauma-induced heterotopic ossification.
43 citations
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November 2019 in “PLoS ONE” This study revealed that differential gene and protein expression in the "Yufen I" H line chicken breed is crucial for Columbian plumage coloration, particularly in the melanogenesis pathway.
31 citations
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March 2013 in “Gene” This study sequenced and analyzed the goat skin transcriptome, revealing genes involved in signal transduction and cell communication that are differentially expressed during hair growth phases, providing insights for Cashmere goat breeding.
13 citations
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April 2022 in “Frontiers in oncology” This review discusses the early phases of melanomagenesis and the factors influencing melanoma cell variability and reports no new clinical results.
October 2024 in “Irish Journal of Medical Science (1971 -)” Continuous glucose monitoring and GLP-1 receptor agonists improve diabetes management, but personalized care and education are crucial.
January 2012 in “heiDOK (Heidelberg University)” In this study, researchers observed that dormant TRP-2+ melanoma cells in bone marrow can interact with CD8+ T cells in tumor-bearing ret transgenic mice, potentially influencing immune responses.
356 citations
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September 2014 in “Journal of Clinical Research in Pediatric Endocrinology” This article discusses the rising prevalence and serious implications of childhood obesity and reports no new experimental findings; the authors emphasize the importance of prevention and early intervention through comprehensive management programs.
June 2006 in “British Journal of Dermatology” The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
11 citations
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July 2012 in “Current Opinion in Pediatrics” This review discusses dermatologic signs in childhood endocrine disorders and highlights their importance in early diagnosis and treatment, but it reports no new clinical findings.
127 citations
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January 2015 in “Journal of Biological Rhythms” This review discusses the role of the circadian clock in skin functions such as cell proliferation and UV protection and reports no new results; the authors note its potential in studying immune regulation and seasonal behaviors.