January 2023 in “Indian dermatology online journal” This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.
May 2024 in “Indian Journal of Dermatology” In this case report, a 22-year-old female was diagnosed with follicular Dowling-Degos disease based on clinical and histological findings, with symptoms including skin lesions confined to hair follicles. The report emphasizes the importance of differentiating this rare variant from similar conditions for proper management.
May 2010 in “Europe PMC (PubMed Central)” This chapter discusses the synthesis and analysis of near-infrared fluorescent activity-based probes for imaging cysteine protease activity, reporting potential benefits for disease diagnosis but noting challenges in imaging specific locations with high cathepsin activity.
November 2025 in “Indian Journal of Dermatology” This study reports a rare cluster of four patients with ectodermal dysplasia, highlighting its typical dental and dermatological manifestations and the necessity of multidisciplinary management.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
October 2024 in “Journal of the Endocrine Society” This study highlights a rare case of vitamin D-dependent rickets type 2A caused by a heterozygous mutation in the vitamin D receptor gene, emphasizing the complexity of managing this condition with high-dose calcium and vitamin D therapy.
6 citations
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August 2022 in “International Journal of Molecular Sciences” This review summarizes the role of Ectodysplasin A signaling in skin appendage development and various diseases, noting potential clinical applications but reporting no new research findings.
January 2025 in “Nanoscale” This study reports that a new boron/nitrogen-doped carbon nano-onion-based delivery system for doxorubicin enhanced its uptake and anticancer effects in specific cancer cell types, while reducing cardiotoxicity in human heart cells.
1 citations
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January 2020 in “British Journal of Dermatology” This article reviews the centenary of the British Association of Dermatologists by highlighting significant papers from its journals, with no new clinical results reported.
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.
April 2016 in “The Journal of Sexual Medicine” This report analyzed an FDA adverse event database and aimed to evaluate and describe post-finasteride syndrome potentially related to dutasteride, but it does not report new clinical findings.
This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.
1 citations
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April 2013 in “Journal of Investigative Dermatology”
5 citations
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October 2014 in “Methods” This article describes how PESCADOR software assists in creating detailed biological pathway charts from PubMed abstracts, focusing on hair and breast development case studies without providing new clinical results.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
This study found that basal cell carcinoma exhibits patterns of hair follicle differentiation but is stuck in telogen arrest, which can be rescued by adding noggin and TGF-β2 in vitro.
127 citations
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August 2016 in “The oncologist” This paper reviews adverse events related to hedgehog pathway inhibitors in advanced basal cell carcinoma patients, reporting no new clinical results but aiming to inform healthcare professionals for improved patient care.
1 citations
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September 2017 This study found that the combination of Stemoxydine® and Resveratrol improved hair density in women with Female Pattern Hair Loss.
5 citations
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September 2014 in “Journal of Pharmaceutical Sciences” October 2006 in “Urology” The study found that different criteria led to different patient groups in the CombAT study compared to the MTOPS study.
2 citations
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January 2015 18 citations
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June 2016 in “Clinical and Experimental Dermatology” This case study reports that an infant with maple syrup urine disease developed acrodermatitis dysmetabolica due to low isoleucine levels, and increasing the isoleucine dose improved the condition.
3 citations
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January 2014 in “The Journal of Dermatology” This letter discusses a case of hapten-induced lymphadenosis benigna cutis following sensitization with squaric acid dibutylester for treating alopecia areata and reports no new clinical results.
1 citations
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September 2023 in “Journal of the American Academy of Dermatology” This abstract introduces baricitinib as an approved treatment for adults with severe alopecia areata in the US, Europe, and Japan, but does not report any specific study results or findings.
6 citations
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February 2024 in “JAAD International” ChatGPT is preferred for creating dermatology patient handouts, but all models can be useful with oversight.
November 2023 in “Journal of plant nutrition and soil science” This study observed that maize plants, including a root hairless mutant variety, did not exhibit typical root growth or compensatory foraging behavior under severe boron deficiency in soil, indicating atypical responses compared to other plants.
February 2020 in “Definitions” 5 citations
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June 2024 in “Phenomics”
In this study, researchers developed de novo designed hetero-bifunctional proteins as an alternative approach for targeted protein degradation, successfully targeting BCL-xL for degradation in cells and inducing apoptosis, which may expand the range of addressable E3 ligases and disease targets.