February 2026 in “Journal of Chittagong Medical College Teachers Association” This case report highlights a 17-year-old female with Kartagener's syndrome and ectodermal anomalies, such as alopecia and dental issues, suggesting a possible novel syndromic variant, with genetic testing recommended to distinguish it from a dual diagnosis.
12 citations
,
January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
September 2021 in “Physiology News” This abstract contains only graphical design information and does not report any research findings or conclusions.
5 citations
,
January 2018 in “Indian Journal of Dermatology/Indian journal of dermatology” This case report describes a 40-year-old woman who developed erythema annulare centrifugum, a type of skin rash, likely triggered by taking the drug aceclofenac.
November 2022 in “Journal of Investigative Dermatology” In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.
50 citations
,
February 2004 in “Genomics” This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.
25 citations
,
April 2008 in “Clinical and experimental dermatology” This case series describes Erythromelanosis follicularis faciei et colli in five Indian patients, suggesting it may be more common than currently reported.
April 2026 in “Zenodo (CERN European Organization for Nuclear Research)” In this study, Dodatek A operationalizes the Functional Androgen Axis framework by defining three system-level indices and an efficiency metric to describe androgen function, incorporating key methodological improvements and acknowledging significant limitations for future empirical validation.
1 citations
,
May 2022 in “International journal of molecular sciences” This study found that in Hutchinson–Gilford progeria syndrome, iPSCs committed to the keratinocyte lineage faster than normal cells, with LEF1 expression reduced and a partial rescue of the phenotype achieved through adenine base editing.
9 citations
,
December 2018 in “Cutaneous and Ocular Toxicology” This meta-analysis found that combined BRAF and MEK inhibitor treatment in melanoma patients is linked to increased all-grade rash but reduced risks of several other dermatological toxicities compared to BRAF inhibition alone.
May 2024 in “Reactions weekly” January 2011 in “Journal of the American Academy of Dermatology” This analysis examines how faculty-related Instagram accounts have adapted their posts during the recent application cycle, including showcasing credentials and incorporating new virtual engagement tools, but reports no new research findings.
January 1979 in “Lucus: Boletín informativo de la Excelentísima Diputación Provincial de Lugo” This paper discusses the molecular basis of intestinal regeneration and highlights the potential role of echinoderms in enhancing regenerative biology research, but reports no new research findings.
April 1996 in “Journal of Dermatological Science” January 2021 in “Electronic Theses of LMU Munich (Ludwig-Maximilians-Universität München)” This study found that fibroblasts play a crucial role in scar formation during dermal development and identified N-Cadherin as a key molecule in their response, suggesting new therapeutic avenues for scar prevention.
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.
June 2019 in “Reactions Weekly” 9 citations
,
June 2014 in “Molecular biology reports” KAP9.2 and Hoxc13 genes are important for cashmere growth and vary in activity during different stages.
September 2024 in “Cermin Dunia Kedokteran” This research discusses Fahr syndrome, highlighting its association with abnormal brain calcifications and varied clinical symptoms in young to middle-aged adults. Diagnosis involves specific criteria and CT scans, but no specific treatment exists; therapy focuses on managing symptoms and underlying conditions.
6 citations
,
May 1997 in “Journal of Dermatological Science” This study found that a gene from hamster flank organs is indirectly regulated by androgens, despite lacking direct androgen responsive elements, indicating involvement of androgen-dependent transcription factors.
46 citations
,
September 2007 in “Journal of Investigative Dermatology” 1 citations
,
July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
18 citations
,
December 2016 in “Phytomedicine” In this study, applying 1% or 5% Curcuma aeruginosa essential oil lotion to the underarm for 10 weeks significantly slowed hair growth and brightened skin in young women, with no adverse effects reported.
April 1977 in “Pediatric Research” January 2007 in “日本看護学会抄録集 成人看護1” This study found that specific residues in human steroid 5alpha-reductase types 1 and 2 influence substrate binding and resistance to the inhibitor Finasteride, with certain substitutions significantly affecting these interactions.
20 citations
,
March 2017 in “Arthritis research & therapy” In this study, researchers analyzed social media data to assess the comparative safety of arthritis medications, finding increased odds of herpes zoster and perforated bowel with certain therapies. Social media posts expressed more safety concerns than favorable opinions about drug safety.
98 citations
,
June 2008 in “Human mutation” This study found that a genetic variant in the EDAR gene leads to typical East Asian hair characteristics by increasing signaling output, as shown in transgenic mice experiments.
May 2026 in “ACS Catalysis” In this study, researchers using QM/MM simulations identified key molecular motions and residue interactions in the enzyme SRD5A2 that significantly influence its catalytic efficiency, demonstrating that specific residues play critical roles in stabilizing transition states and reducing activation barriers.
June 2007 in “Journal of Investigative Dermatology” 2 citations
,
December 2016 in “International Journal of Surgery”