4.8 Article

Driver gene combinations dictate cutaneous squamous cell carcinoma disease continuum progression

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Notch1 mutations drive clonal expansion in normal esophageal epithelium but impair tumor growth

Emilie Abby et al.

Summary: Notch1 mutations have opposite effects in normal and tumor cells of the mouse esophagus. Notch1 blockade reduces premalignant tumor growth and may be used as a prevention strategy for squamous esophageal cancer. NOTCH1 mutant clones are more common in normal human esophagus but less prevalent in esophageal cancers, suggesting that these mutations promote clonal expansion but hinder carcinogenesis. Further experiments confirmed the competitive advantage conferred by Notch1 mutations in mouse esophagus and the potential therapeutic effect of Notch1 blockade in preventing esophageal cancer.

NATURE GENETICS (2023)

Article Dermatology

Validation of four cutaneous squamous cell carcinoma staging systems using nationwide data

Zoe Claire Venables et al.

Summary: This study validated the performance of four cSCC staging systems in predicting metastasis, with the BWH system demonstrating the highest specificity and discriminative ability, while the AJCC8 system showed superior negative predictive value and homogeneity. Further improvement and refinement of current cSCC staging systems are needed.

BRITISH JOURNAL OF DERMATOLOGY (2022)

Review Oncology

TGFβ: Signaling Blockade for Cancer Immunotherapy

Szu-Ying Chen et al.

Summary: This article discusses the biological effects of transforming growth factor beta (TGFβ) on different cells, with a focus on its impact on the adaptive immune system to improve immunotherapy outcomes. The authors also present recent advances in the development of drugs targeting the TGFβ signaling pathway in a tumor-specific or cell type-specific manner to optimize the therapeutic window between response rates and adverse effects.

ANNUAL REVIEW OF CANCER BIOLOGY (2022)

Article Multidisciplinary Sciences

LGR5 is a conserved marker of hair follicle stem cells in multiple species and is present early and throughout follicle morphogenesis

Kathryn M. Polkoff et al.

Summary: This study demonstrates that LGR5 is a marker of hair follicle stem cells across species using a transgenic pig model. The study also reveals the similarities and differences in expression patterns, gene expression profiles, and developmental processes between species. These findings are important for improving human hair follicle regeneration and skin treatment.

SCIENTIFIC REPORTS (2022)

Article Biochemistry & Molecular Biology

Characterization of TGF-? signaling in a human organotypic skin model reveals that loss of TGF-?RII induces invasive tissue

Zilu Ye et al.

Summary: This study investigates the importance of TGF-beta signaling pathway in human epithelial tissue homeostasis and transformation. Using genetic engineering, 3D tissue models, and quantitative proteomics, the study reveals that the loss of TGF-beta signaling promotes cell proliferation, delays differentiation, and induces invasive growth. The loss of TGF-beta receptor II (TGF-beta RII) has a stronger impact on cell proliferation and differentiation, and it also affects cell-matrix interactions and activates proinflammatory mediators.

SCIENCE SIGNALING (2022)

Article Multidisciplinary Sciences

Ordered and deterministic cancer genome evolution after p53 loss

Timour Baslan et al.

Summary: This study reveals that the malignant properties enabled by p53 inactivation are acquired through a predictable pattern of genome evolution in a mouse model of pancreatic ductal adenocarcinoma. Despite heterogeneity, the deletion events that follow p53 inactivation target functionally relevant pathways and remain fixed as homogenous events in diverse malignant populations.

NATURE (2022)

Article Oncology

Selection of Oncogenic Mutant Clones in Normal Human Skin Varies with Body Site

Joanna C. Fowler et al.

Summary: The density and types of mutant clones in skin vary across different body sites, with most mutations caused by ultraviolet light and differences in DNA-repair processes. Normal skin is a dense patchwork of mutant clones that vary by location.

CANCER DISCOVERY (2021)

Article Dermatology

The Genomic Landscape of Actinic Keratosis

Jason Thomson et al.

Summary: This study conducted the largest AK whole exome sequencing study to date and found significant similarities between AK and cSCC in terms of genetic mutations, copy number alterations, driver gene mutations, and mutational signatures. The research identified 44 significantly mutated AK driver genes and suggested that dysregulated TGFf3 signaling may play an important role in AK-cSCC progression.

JOURNAL OF INVESTIGATIVE DERMATOLOGY (2021)

Article Multidisciplinary Sciences

Fat1 deletion promotes hybrid EMT state, tumour stemness and metastasis

Ievgenia Pastushenko et al.

Summary: This study reveals that mutation of the FAT1 gene promotes tumor initiation, progression, invasiveness, stemness, and metastasis. Loss of function of FAT1 activates a CAMK2-CD44-SRC axis while inactivates EZH2, playing important roles in the expression of YAP1 and ZEB1.

NATURE (2021)

Article Hematology

A CIBERSORTx-based immune cell scoring system could independently predict the prognosis of patients with myelodysplastic syndromes

Yu-Hung Wang et al.

Summary: This study revealed the association between immune cell ratios in the bone marrow of MDS patients and prognosis, with the ICSS scoring system able to stratify patients into high, intermediate, and low-risk groups and independently predict prognosis.

BLOOD ADVANCES (2021)

Article Genetics & Heredity

The landscape of driver mutations in cutaneous squamous cell carcinoma

Darwin Chang et al.

Summary: Cutaneous squamous cell carcinoma originates from keratinocytes in the skin and is characterized by high mutation burden primarily caused by UV-induced DNA damage. Through meta-analysis of sequencing data, multiple driver genes were identified, offering potential therapeutic targets and insights into the biology of this type of skin cancer.

NPJ GENOMIC MEDICINE (2021)

Article Oncology

NR2F2 controls malignant squamous cell carcinoma state by promoting stemness and invasion and repressing differentiation

Federico Mauri et al.

Summary: NR2F2 is identified as a key regulator that promotes malignant tumor state and inhibits tumor differentiation, thus sustaining squamous cell carcinomas.

NATURE CANCER (2021)

Article Dermatology

Defining Transcriptional Signatures of Human Hair Follicle Cell States

Rie Takahashi et al.

JOURNAL OF INVESTIGATIVE DERMATOLOGY (2020)

Letter Biotechnology & Applied Microbiology

The nf-core framework for community-curated bioinformatics pipelines

Philip A. Ewels et al.

NATURE BIOTECHNOLOGY (2020)

Article Multidisciplinary Sciences

CaSpER identifies and visualizes CNV events by integrative analysis of single-cell or bulk RNA-sequencing data

Akdes Serin Harmanci et al.

NATURE COMMUNICATIONS (2020)

Article Dermatology

Epidemiology of basal and cutaneous squamous cell carcinoma in the UK 2013-15: a cohort study

Z. C. Venables et al.

BRITISH JOURNAL OF DERMATOLOGY (2019)

Article Biotechnology & Applied Microbiology

Dimensionality reduction for visualizing single-cell data using UMAP

Etienne Becht et al.

NATURE BIOTECHNOLOGY (2019)

Article Dermatology

Nationwide Incidence of Metastatic Cutaneous Squamous Cell Carcinoma in England

Zoe C. Venables et al.

JAMA DERMATOLOGY (2019)

Article Medicine, General & Internal

PD-1 Blockade with Cemiplimab in Advanced Cutaneous Squamous-Cell Carcinoma

M. R. Migden et al.

NEW ENGLAND JOURNAL OF MEDICINE (2018)

Review Immunology

S100 Proteins As an Important Regulator of Macrophage Inflammation

Chang Xia et al.

FRONTIERS IN IMMUNOLOGY (2018)

Article Multidisciplinary Sciences

Identification of the tumour transition states occurring during EMT

Ievgenia Pastushenko et al.

NATURE (2018)

Article Multidisciplinary Sciences

The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature

Gareth J. Inman et al.

NATURE COMMUNICATIONS (2018)

Article Cell Biology

Splicing and Chromatin Factors Jointly Regulate Epidermal Differentiation

Sabine E. J. Tanis et al.

CELL REPORTS (2018)

Article Biotechnology & Applied Microbiology

xCell: digitally portraying the tissue cellular heterogeneity landscape

Dvir Aran et al.

GENOME BIOLOGY (2017)

Article Biochemical Research Methods

Genefu: an R/Bioconductor package for computation of gene expression-based signatures in breast cancer

Deena M. A. Gendoo et al.

BIOINFORMATICS (2016)

Article Genetics & Heredity

Regulators of genetic risk of breast cancer identified by integrative network analysis

Mauro A. A. Castro et al.

NATURE GENETICS (2016)

Letter Dermatology

MEK Is a Therapeutic and Chemopreventative Target in Squamous Cell Carcinoma

Charles H. Adelmann et al.

JOURNAL OF INVESTIGATIVE DERMATOLOGY (2016)

Article Multidisciplinary Sciences

Genomic analyses identify molecular subtypes of pancreatic cancer

Peter Bailey et al.

NATURE (2016)

Article Multidisciplinary Sciences

Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinoma

Patrizia Cammareri et al.

NATURE COMMUNICATIONS (2016)

Article Cell Biology

A LncRNA-MAF:MAFB Transcription Factor Network Regulates Epidermal Differentiation

Vanessa Lopez-Pajares et al.

DEVELOPMENTAL CELL (2015)

Article Multidisciplinary Sciences

High burden and pervasive positive selection of somatic mutations in normal human skin

Inigo Martincorena et al.

SCIENCE (2015)

Article Biotechnology & Applied Microbiology

Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2

Michael I. Love et al.

GENOME BIOLOGY (2014)

Article Biochemical Research Methods

STAR: ultrafast universal RNA-seq aligner

Alexander Dobin et al.

BIOINFORMATICS (2013)

Article Biochemical Research Methods

GSVA: gene set variation analysis for microarray and RNA-Seq data

Sonja Haenzelmann et al.

BMC BIOINFORMATICS (2013)

Article Multidisciplinary Sciences

Control of somatic tissue differentiation by the long non-coding RNA TINCR

Markus Kretz et al.

NATURE (2013)

Article Biochemistry & Molecular Biology

Integrative Analysis of Complex Cancer Genomics and Clinical Profiles Using the cBioPortal

Jianjiong Gao et al.

SCIENCE SIGNALING (2013)

Article Cell Biology

Suppression of progenitor differentiation requires the long noncoding RNA ANCR

Markus Kretz et al.

GENES & DEVELOPMENT (2012)

Article Biochemical Research Methods

ConsensusClusterPlus: a class discovery tool with confidence assessments and item tracking

Matthew D. Wilkerson et al.

BIOINFORMATICS (2010)

Article Biochemistry & Molecular Biology

A milieu of regulatory elements in the epidermal differentiation complex syntenic block: implications for atopic dermatitis and psoriasis

Cristina de Guzman Strong et al.

HUMAN MOLECULAR GENETICS (2010)

Article Multidisciplinary Sciences

DNMT1 maintains progenitor function in self-renewing somatic tissue

George L. Sen et al.

NATURE (2010)

Article Multidisciplinary Sciences

Identification of stem cells in small intestine and colon by marker gene Lgr5

Nick Barker et al.

NATURE (2007)

Review Medicine, Research & Experimental

Epidermal barrier formation and recovery in skin disorders

JA Segre

JOURNAL OF CLINICAL INVESTIGATION (2006)

Article Biochemistry & Molecular Biology

Mutant p53 gain of function in two mouse models of Li-Fraumeni syndrome

KP Olive et al.