Nanopore sequencing enables allelic phasing of FLG loss-of-function variants, intragenic copy number variation and methylation status in atopic dermatitis and ichthyosis vulgaris
Loss-of-function (LoF) variants in the FLG gene are causative for ichthyosis vulgaris (IV) and the major genetic risk factor for atopic dermatitis (AD) (Barker et al., 2007; Weidinger et al., 2006). Due to its extremely repetitive nature and sequence similarity of intragenic repeats, the FLG gene is technically challenging to genetically analyse and therefore determine the contribution of LoF variants to disease status. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - February 7, 2024 Category: Dermatology Authors: Colin Wong, Cheng-Yong Tham, Lin Yang, Miles C. Benton, Vipin Narang, Simon Denil, Kaibo Duan, Yik Weng Yew, Bernett Lee, Paola Florez de Sessions, John E.A. Common Tags: Letters to the Editor Source Type: research

Deletion of Pak1 in CD11c-Positive Cells Confers Resistance to Mouse Skin Carcinogenesis
p21 (CdC42/RAC1)-activated kinases are implicated in the nodal point of several oncogenic signaling pathways. Indeed, the aberrant overexpression or mutational activation of p21 (CdC42/RAC1)-activated kinase isoforms is frequently observed in numerous human tumors. Recent reports suggest that the enhanced p21 (CdC42/RAC1)-activated kinase activity is a hallmark of many oncogenic cellular processes (Radu et  al, 2014). (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - February 5, 2024 Category: Dermatology Authors: Kazuhiro Okumura, Takao Morinaga, Megumi Saito, Yurika Tokunaga, Keisuke Otoyama, Sora Tanaka, Eriko Isogai, Masahito Kawazu, Yosuke Togashi, Kimi Araki, Yuichi Wakabayashi Tags: Letters to the Editor Source Type: research

Deletion of Pak1 in CD11c positive cells confers resistance to mouse skin carcinogenesis
p21 (CdC42/RAC1)-activated kinases (PAKs) are implicated in the nodal point of several oncogenic signaling pathways. Indeed, the aberrant overexpression or mutational activation of PAK isoforms is frequently observed in numerous human tumors. Recent reports suggest that the enhanced PAK activity is a hallmark of many oncogenic cellular processes (Radu et al., 2014). (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - February 5, 2024 Category: Dermatology Authors: Kazuhiro Okumura, Takao Morinaga, Megumi Saito, Yurika Tokunaga, Keisuke Otoyama, Sora Tanaka, Eriko Isogai, Masahito Kawazu, Yosuke Togashi, Kimi Araki, Yuichi Wakabayashi Tags: Letters to the Editor Source Type: research

Costimulatory Molecule CD226 Regulates Atopic Dermatitis in a Mouse Model
The present study investigated the role of CD226 in a 2,4-dinitrochlorobenzene (DNCB)-induced mouse model of atopic dermatitis (AD). The results showed that the lack of CD226 (global and CD4+ T cell-specific) significantly increased ear thickness, reddening, swelling, and scaling of the skin, as well as inflammatory cell and mast cell infiltration. qPCR results demonstrated that the mRNA expressions of AD-related inflammatory cytokines and chemokines were markedly increased in the draining lymph nodes (dLNs) and lesion ear skin tissues of global and CD4+ T cell-specific CD226-deficient mice compared with that in control mi...
Source: Journal of Investigative Dermatology - February 5, 2024 Category: Dermatology Authors: Wei Qiao, Chujun Duan, Jingchang Ma, Wei Hu, Yang Xie, Lu Yang, Tingting Wang, Shuwen Wu, Xuemei Li, Yuling Wang, Kun Cheng, Yun Zhang, Yuan Zhang, Ran Zhuang Tags: Original Article Source Type: research

Leveraging OpenAI's Advanced Data Analysis Tool in Dermatology: Opportunities and Challenges
Artificial intelligence (AI) is reshaping medicine, enhancing diagnosis, treatment, and patient care. OpenAI ’s GPT-4, a sophisticated AI model, produces human-like text, while its extension, the Advanced Data Analysis Tool (ADA, previously Code Interpreter), enables intricate computational tasks within conversations (De Angelis, et al. 2023). With the rise of electronic health records, there exists an o verflow of data but often a lack of expertise to decipher it (Cohen, et al. 2015). Furthermore, several studies have suggested that the current level of medical training in biostatistics is inadequate (Horton and Switzer...
Source: Journal of Investigative Dermatology - February 5, 2024 Category: Dermatology Authors: Neil K. Jairath, Sultan Qiblawi, George M. Jeha, Vartan Pahalyants, Ruple Jairath, Shayan Cheraghlou, Vignesh Ramachandran, Yaohui Gloria Xu, Juliet Aylward Tags: Letters to the Editor Source Type: research

Receptor tyrosine kinase EPHA2 drives epidermal differentiation through regulation of EGFR signaling.
Intricate signaling systems are required to maintain homeostasis and promote differentiation in epidermis. Receptor tyrosine kinases are central in orchestrating these systems in epidermal keratinocytes. In particular, EPHA2 and EGFR transduce distinct signals to dictate keratinocyte fate, yet how these cell communication networks are integrated has not been investigated. Our work shows that loss of EPHA2 impairs keratinocyte stratification, differentiation, and barrier function. To determine the mechanism of this dysfunction, we drew from our proteomics data of potential EPHA2 interacting proteins. (Source: Journal of Inv...
Source: Journal of Investigative Dermatology - February 2, 2024 Category: Dermatology Authors: Bethany E. Perez White, Calvin J. Cable, Bo Shi, Rosa Ventrella, Nihal Kaplan, Aya Kobeissi, Yuya Higuchi, Abhinav Balu, Zachary R. Murphy, Priya Kumar, Spiro Getsios Tags: Original Article Source Type: research

Desmoplasia Is Associated with Decreased Cytotoxic and Helper T Cells and Increased T-Cell Exhaustion in Cutaneous Squamous Cell Carcinoma
Although the vast majority of cutaneous squamous cell carcinoma (CSCC) are easily cured with surgical excision, 1 –3% of cases result in death, making deaths from CSCC similar in number to those from melanoma (Karia et al, 2014). Despite this, mechanisms governing aggressive behavior/metastasis remain largely undefined (Stang et al, 2019). Food and Drug Administration–approved immunotherapies exist for un resectable CSCCs; however, they have an approximate response rate of 50% with few complete responses and subsequently a high risk of disease-specific death (Migden et al, 2018). (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - February 1, 2024 Category: Dermatology Authors: Yuka Hirakawa, Qian Zhan, Sernah Essien, Kenneth K. Yu, Fadi Murad, Adriano Piris, Matthew R. Ramsey, Tobias Schatton, John A. Carucci, Chrysalyne D. Schmults Tags: Letters to the Editor Source Type: research

Assessment of correctness, content omission, and risk of harm in large language model responses to dermatology continuing medical education questions
Artificial intelligence (AI)-based large language models (LLMs) have been shown to have promising performance in medical applications, including on specialty board examination questions and complex clinical cases (Beam et al, 2023; Eriksen et al, 2023). Previous reports evaluated the performance of LLMs on dermatology practice board examinations questions (Passby et al, 2023; Joly-Chevrier et al, 2023; Mirza et al, 2024), but the performance of LLMs compared to practicing dermatologists has not been elucidated. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - February 1, 2024 Category: Dermatology Authors: Zhuo Ran Cai, Michael L. Chen, Jiyeong Kim, Roberto A. Novoa, Leandra A. Barnes, Andrew Beam, Eleni Linos Tags: Letters to the Editor Source Type: research

Fusion of Deep Learning with Conventional Imaging Processing: Does It Bring Artificial Intelligence Closer to the Clinic?
Machine learning diagnosis from skin images has become a proving ground for new image-processing technology. The dramatic increase in the number of cutaneous malignancies and the difficulty of distinguishing these growths from harmless lesions, especially at the early melanoma in situ stage, comprise a real-world challenge for today ’s machine learning algorithms. New image analysis techniques could enable earlier diagnosis and successful treatment of malignant lesions while reducing the need for biopsies on benign lesions. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - February 1, 2024 Category: Dermatology Authors: Jason R. Hagerty, Anand Nambisan, R. Joe Stanley, William V. Stoecker Tags: Commentary Source Type: research

Desmoplasia is associated with decreased cytotoxic and helper T cells and increased T cell exhaustion in cutaneous squamous cell carcinoma
Though the vast majority of cutaneous squamous cell carcinoma (CSCC) are easily cured with surgical excision, 1-3% of cases result in death, making deaths from CSCC similar in number to those from melanoma (Karia et al., 2014). Despite this, mechanisms governing aggressive behavior/metastasis remain largely undefined (Stang et al., 2019). FDA-approved immunotherapies exist for unresectable CSCCs; however, they have an approximate response rate of 50% with few complete responses and subsequently a high risk of disease specific death. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - February 1, 2024 Category: Dermatology Authors: Yuka Hirakawa, Qian Zhan, Sernah Essien, Kenneth K. Yu, Fadi Murad, Adriano Piris, Matthew R. Ramsey, Tobias Schatton, John A. Carucci, Chrysalyne D. Schmults Tags: Letters to the Editor Source Type: research

Selective Depletion of Staphylococcus aureus Restores the Skin Microbiome and Accelerates Tissue Repair after Injury
In this study, we provide important data on the selectivity and efficacy of an S aureus –targeted endolysin (XZ.700) within the complex living skin/wound microbiome. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - January 31, 2024 Category: Dermatology Authors: Holly N. Wilkinson, Amber R. Stafford, Michelle Rudden, Nina D.C. Rocha, Alexandria S. Kidd, Sammi Iveson, Andrea L. Bell, Jeffrey Hart, Ana Duarte, Johan Frieling, Ferd Janssen, Christian R öhrig, Bob de Rooij, Peter F. Ekhart, Matthew J. Hardman Tags: Original Article Source Type: research

Microbes, Autoimmunity, and Cancer: 69th Annual Montagna Symposium on the Biology of Skin
The Annual Symposium on the Biology of Skin, now the Montagna Symposium on the Biology of Skin, was initiated at Brown University in 1950 by William Montagna on the basis of the need to communicate investigative work in cutaneous biology and to provide a forum in which basic scientists studying human and animal skin could exchange knowledge with clinically trained scientists in investigative dermatology. Today, the mission of the Montagna Symposium on the Biology of Skin is to (i) thoroughly cover 1 aspect of skin biology annually, identifying unsolved problems and long-term goals; (ii) facilitate the exchange of knowledge...
Source: Journal of Investigative Dermatology - January 31, 2024 Category: Dermatology Authors: Robert L. Modlin, Niroshana Anandasabapathy, Daniel Kaplan, John O ’Shea, Dennis Roop, Sancy Leachman Tags: News and Perspectives Source Type: research

The Arrival of Artificial Intelligence Large Language Models and Vision-Language Models: A Potential to Possible Change in the Paradigm of Healthcare Delivery in  Dermatology
An incredible paradigm shift has occurred in artificial intelligence (AI) through the introduction of large language models (LLMs), which allow patients and healthcare workers to interact with AI models using natural language. Some notable examples include ChatGPT, Bing Chat, and Google Bard. As dermatology is a visual specialty, the addition of vision-language models (VLMs) is particularly exciting because these multimodal models can take both text and image inputs. Dermatologists face various challenges in providing optimal patient care in today's world. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - January 31, 2024 Category: Dermatology Authors: Aditya K. Gupta, Mesbah Talukder, Tong Wang, Roxana Daneshjou, Vincent Piguet Tags: News and Perspectives Source Type: research

Selective depletion of S. aureus restores the skin microbiome and accelerates tissue repair following injury.
Our skin is home to a diverse community of commensal microorganisms integral to cutaneous function. However, microbial dysbiosis and barrier perturbation increase the risk of local and systemic infection. Staphylococcus aureus is a particularly problematic bacterial pathogen, with high levels of antimicrobial resistance and direct association with poor healing outcome. Innovative approaches are needed to selectively kill skin pathogens, such as S. aureus, without harming the resident microbiota. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - January 31, 2024 Category: Dermatology Authors: Holly N. Wilkinson, Amber R. Stafford, Michelle Rudden, Nina D.C. Rocha, Alexandria S. Kidd, Sammi Iveson, Andrea L. Bell, Jeffrey Hart, Ana Duarte, Johan Frieling, Ferd Janssen, Christian R öhrig, Bob de Rooij, Peter F. Ekhart, Matthew J. Hardman Tags: Original Article Source Type: research

The EGR1 –Artemin Axis in Keratinocytes Enhances the Innervation of Epidermal Sensory Neurons during Skin Inflammation Induced by House Dust Mite Extract from Dermatophagoides farinae
This study investigates the role of the transcription factor EGR1 in epidermal innervation by utilizing wild-type (Egr1+/+) and Egr1-null (Egr1 ‒/‒) mice topically applied Dermatophagoides farinae extract from dust mite. Our findings revealed that Egr1‒/‒ mice exhibited reduced scratching behaviors and decreased density of epidermal innervation compared with Egr1+/+ mice. (Source: Journal of Investigative Dermatology)
Source: Journal of Investigative Dermatology - January 30, 2024 Category: Dermatology Authors: Hyunjin Yeo, Sung Shin Ahn, Sukjin Ou, Sook Jung Yun, Yoongho Lim, Dongsoo Koh, Young Han Lee, Soon Young Shin Tags: Original Article Source Type: research