31 citations
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October 2019 in “Genes & Diseases” This study identified significant gene expression differences in human basal cell carcinoma, including up-regulation of zinc finger encoding genes, which are not entirely reflected in current mouse models.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This study suggests that the DNMT3B -579 G>T polymorphism may be a genetic risk factor for colorectal cancer in the Azerbaijani population.
17 citations
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October 2001 in “British Journal of Ophthalmology” This report highlights a case where intralesional cidofovir successfully treated squamous cell carcinoma without systemic toxicity, suggesting it may be a viable alternative to surgical excision.
September 2023 in “Journal of the American Academy of Dermatology” Dermatologists should consider alpha-gal syndrome in patients with unexplained chronic skin issues.
63 citations
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May 2015 in “PloS one” This study found that GALT5 and GALT2 are redundant enzymes essential for O-glycosylation of AGPs, with mutations leading to significant growth and development defects in plants.
19 citations
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April 2014 in “Expert opinion on emerging drugs” This review discusses Hedgehog inhibitors for basal cell carcinoma treatment, noting tumor regression during therapy but also challenges like muscle toxicity and potential resistance; it reports no new clinical findings.
60 citations
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October 2020 in “Nature Communications” This study found that small molecule AP-1 inhibitors may selectively target SMO inhibitor-resistant basal cell carcinoma cells characterized by specific markers, potentially enhancing combinatorial cancer therapies.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This study analyzed pediatric and adult patients with antibody deficiencies at a PID center, finding frequent severe infections and genetic mutations, with treatment primarily involving IVIG replacement therapy.
14 citations
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February 2008 in “Stem Cells and Development” This study identified several genes highly expressed in germ-line stem cells that are also common in hematopoietic stem cells, potentially aiding the exploration of fundamental stem cell commonalities.
October 2024 in “Journal of the Endocrine Society” This case report highlights a patient with Ayme-Gripp syndrome, revealing an association between the syndrome and hypothyroidism, and underscores the importance of considering rare genetic conditions in differential diagnoses of endocrinopathies.
April 2018 in “Journal of Investigative Dermatology” This study observed that β-catenin overexpression in human squamous cell carcinoma cells led to increased CREB expression, which significantly enhanced clonogenic activity, suggesting CREB as a β-catenin-regulated factor promoting cancer characteristics.
This study found that BCG injection in COVID-19 convalescent adults reduced long COVID symptoms like hearing and cognitive issues but also led to increased hair loss in women at six months.
January 2000 in “Cambio 16” This study observed that overexpression of Bcl-2 in certain transgenic mice accelerates catagen progression and increases hair follicle apoptosis and alopecia, while Bcl-2 deficient mice show delayed hair growth and pigmentation changes.
14 citations
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January 2013 in “Hormone and Metabolic Research” This study found that in patients with nonclassical 21-hydroxylase deficiency, genotypes do not reliably predict the severity of hyperandrogenic symptoms, suggesting other genetic factors may influence the phenotype.
8 citations
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June 1981 in “Clinica Chimica Acta” 11 citations
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November 2011 in “The Journal of Dermatology” This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.
June 2020 in “Annals of the Rheumatic Diseases” This observational study concluded that anti-Ku antibodies do not specifically indicate any systemic autoimmune disease or associated clinical phenotype.
April 2017 in “Journal of Investigative Dermatology” This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.
4 citations
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July 2012 in “Genesis” This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.
32 citations
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August 2020 in “American Journal Of Pathology” This study reports that in ovarian high-grade serous carcinoma, overexpressed S100A4 likely promotes epithelial-mesenchymal transition and cancer stem cell properties, affecting tumor behavior through its interaction with NMIIA and mutant p53.
14 citations
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February 1991 in “FEBS Letters” This study found that introducing rat ornithine transcarbamylase gene into spf-ash mice improved liver and intestinal enzyme activity and normalized some metabolic indicators.
2 citations
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August 2020 in “Cosmetics” This study reported unexpected positive results in two males with androgenetic alopecia using a cyclodextrin-enabled, natural-based formula over 270 days, showing marked hair thickening and reduced scalp hair loss.
November 2024 in “Journal of Investigative Dermatology” Dermal IgA deposition without symptoms is rare in Dermatitis herpetiformis risk groups.
3 citations
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November 2024 in “Egyptian Journal of Medical Human Genetics” This bibliometric analysis identified SGK1 as a key factor in cancer, showing that its dysregulation can lead to tumor growth and treatment resistance. The authors highlighted SGK1's potential as a therapeutic target, but note that further research is needed to develop effective treatment strategies.
14 citations
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September 1999 in “Mammalian genome” In this study, researchers generated a mouse mutation called scraggly, related to hair and skin defects, and mapped it to a genetic location on mouse Chromosome 19 distinct from similar mutations.
1 citations
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September 2017 in “Zhonghua neifenmi daixie zazhi” This article discusses the importance of routine karyotyping in patients with congenital adrenal hyperplasia, as it may reveal the presence of Turner syndrome and recommends early diagnosis and treatment; it reports no new clinical results.
72 citations
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January 2003 in “American Journal of Pathology” This study found that the co-activator CBP enhances the agonistic action of hydroxyflutamide on androgen receptors, suggesting a mechanism for therapy resistance in prostate cancer.
3 citations
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December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
24 citations
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May 2009 in “The FASEB Journal” This study found that Akt2 and SGK3 are crucial for postnatal hair follicle development in mice, as their combined absence led to severe hair growth defects due to disrupted β-catenin-dependent transcriptional processes.
September 2022 in “European Journal of Dermatology” This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.