30 citations
,
June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
1 citations
,
April 2023 in “Science Advances” This study found that sustained ERK activity during tissue regeneration in spiny mice is linked to fibroblast growth factor and ErbB signaling, while inhibiting ERK shifted regeneration toward scarring.
11 citations
,
January 2015 in “Dermatology” This study found multiple factors, both inherited and acquired, that may lead to bradykinin-mediated angio-oedema, proposing a new classification based on bradykinin production and catabolism imbalance.
July 2017 in “Contemporary Endocrinology” This article discusses the ongoing care needs for individuals with 21-hydroxylase deficiency due to mutations in the CYP21A2 gene but does not present new clinical findings.
11 citations
,
January 2022 in “Theranostics” In this study, Wnt4 was identified as a key factor in cardiac repair, where its regulation in cardiac fibroblasts improved cardiac function and revascularization following ischemic reperfusion injury.
14 citations
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March 2022 in “Journal of Biomedical Science” In this study, Cyanidin 3-O-arabinoside was found to protect against DHT-induced dermal papilla cell senescence and mitochondrial dysfunction in androgenetic alopecia, restoring hair growth in mouse models.
22 citations
,
August 2021 in “Frontiers in medicine” This study found that monocytes/macrophages with a pro-inflammatory M1-like phenotype may play a crucial role in the pathogenesis of hidradenitis suppurativa, suggesting potential therapeutic targets.
1 citations
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October 2025 in “Micromachines” This review highlights the potential of integrating point-of-care testing with allele-specific amplification techniques like AS-PCR, AS-LAMP, and AS-RPA to improve the efficiency, accuracy, and affordability of genotyping single nucleotide polymorphisms associated with human diseases.
1 citations
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October 2022 in “Biomedicines” This study found that Prdm1 is crucial for whisker development in mice, affecting multiple signaling pathways and possibly playing a role in primates' evolutionary loss of vibrissae.
3 citations
,
February 2024 in “Forensic Sciences Research” In this study, researchers found that massively parallel sequencing of mitochondrial DNA (mtDNA) can improve information recovery from forensic samples, with successful full region amplification possible from as few as 2,000 mtDNA copies, albeit with variability in heteroplasmy among hair samples from the same donor.
May 2025 in “Experimental Dermatology” This study found that specific TRPM5 modulators are unlikely to directly affect sebaceous glands, but safe TPPO analogues may provide moderate lipogenic and anti-inflammatory effects beneficial for dry skin conditions.
11 citations
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August 2019 in “The Journal of Sexual Medicine” This study found that women with nonclassic congenital adrenal hyperplasia (NC-CAH) reported lower sexual function and higher sexual distress compared to those with classic CAH (C-CAH), particularly among those showing signs of androgen excess.
94 citations
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July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
13 citations
,
April 2009 in “PLOS ONE” This study found no evidence that androgen receptor copy number variation is associated with androgenetic alopecia, suggesting it is unlikely to be a contributing factor.
1 citations
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August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
103 citations
,
November 2014 in “Journal of Cell Biology” This study found that overexpression of miR-214 in keratinocytes inhibits hair follicle development and cycling by targeting β-catenin in the Wnt signaling pathway.
182 citations
,
November 2017 in “Molecular Aspects of Medicine” This review discusses various therapeutic strategies targeting platelet-derived growth factor signaling in diseases like cancer and atherosclerosis, and evaluates existing treatments without presenting new clinical data.
37 citations
,
March 2006 in “Regulatory Peptides” This study reports that GLP-1 receptors and proglucagon are expressed in the skin of newborn mice, with GLP-1 potentially playing a role in skin development and hair follicle formation.
October 2025 in “Communications Medicine” This study found that using a combination of genotypic and primarily phenotypic reanalysis significantly enhances the accuracy of molecular diagnoses in patients suspected of having monogenic diabetes.
24 citations
,
July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
1 citations
,
November 2015 in “Indian Journal of Clinical Biochemistry” The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
6 citations
,
November 2018 in “Histochemistry and Cell Biology” This study observed that gerbils exhibit a different wound healing mechanism compared to mice, with lower TGF-B1 expression and distinct tissue responses, yet achieve similar healing outcomes.
3 citations
,
January 2023 in “Physiological Research” This review suggests that mesenchymal stem cells' therapeutic effects might be due to bioactive substances they release, rather than the cells themselves, highlighting the potential of the MSC secretome as a novel, cell-free therapeutic approach.
117 citations
,
May 2017 in “Human Reproduction Update” This review examines the epidemiology, pathophysiology, diagnosis, and management strategies for non-classic congenital hyperplasia due to 21-hydroxylase deficiency, and provides evidence-based recommendations for its treatment and genetic counseling.
25 citations
,
September 2015 in “Clinical Endocrinology” This study found that diagnosing nonclassic congenital adrenal hyperplasia in women based solely on serum 17OHP measurements can lead to false positives, suggesting the need for urinary steroid profiles and genetic testing for confirmation.
20 citations
,
February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
March 2024 in “Research Square (Research Square)” This study found that a combined genotypic and phenotypic reanalysis increased molecular diagnostic accuracy from 9% to 26% in a cohort of unresolved monogenic diabetes cases, identifying five previously overlooked genetic defects.
100 citations
,
November 2021 in “Cell Research” This study found that SARS-CoV-2 hijacks the host factor IGF2BP1 to stabilize its RNA and enhance translation, and identified Cepharanthine and Trifluoperazine as potential treatments against the virus.
4 citations
,
July 2025 in “International Journal of Nanomedicine” This review explores nano-quercetin formulations to enhance the solubility, stability, and targeted delivery of quercetin, highlighting its potential efficacy in treating cancer, inflammation, metabolic diseases, and tissue regeneration, though challenges in biocompatibility, toxicity, and production remain, per this source.