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22 Results Found

  • Feature Paper
  • Article
  • Open Access
15 Citations
4,102 Views
16 Pages

Utility of EFEMP1 in the Prediction of Oncologic Outcomes of Urothelial Carcinoma

  • Tzu-Ju Chen,
  • Ti-Chun Chan,
  • Wan-Shan Li,
  • Chien-Feng Li,
  • Hung-Lung Ke,
  • Yu-Ching Wei,
  • Wen-Jeng Wu and
  • Wei-Ming Li

6 June 2021

Urothelial carcinoma (UC) of the upper tract (UTUC) and urinary bladder (UBUC) is a heterogeneous malignancy. Through transcriptomic profiling of the Gene Expression Omnibus UBUC dataset (GSE31684), we discovered that epidermal growth factor-containi...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
6 Citations
4,980 Views
14 Pages

A Zebrafish Mutant in the Extracellular Matrix Protein Gene efemp1 as a Model for Spinal Osteoarthritis

  • Ratish Raman,
  • Mohamed Ali Bahri,
  • Christian Degueldre,
  • Caroline Caetano da Silva,
  • Christelle Sanchez,
  • Agnes Ostertag,
  • Corinne Collet,
  • Martine Cohen-Solal,
  • Alain Plenevaux and
  • Marc Muller
  • + 1 author

24 December 2023

Osteoarthritis is a degenerative articular disease affecting mainly aging animals and people. The extracellular matrix protein Efemp1 was previously shown to have higher turn-over and increased secretion in the blood serum, urine, and subchondral bon...

(This article belongs to the Section Aquatic Animals)
  • Article
  • Open Access
23 Citations
4,271 Views
15 Pages

miR-9-Mediated Inhibition of EFEMP1 Contributes to the Acquisition of Pro-Tumoral Properties in Normal Fibroblasts

  • Giulia Cosentino,
  • Sandra Romero-Cordoba,
  • Ilaria Plantamura,
  • Alessandra Cataldo and
  • Marilena V. Iorio

22 September 2020

Tumor growth and invasion occurs through a dynamic interaction between cancer and stromal cells, which support an aggressive niche. MicroRNAs are thought to act as tumor messengers to “corrupt” stromal cells. We previously demonstrated th...

(This article belongs to the Special Issue Micro- and Macro-Environmental Factors in Solid Cancers)
  • Article
  • Open Access
475 Views
15 Pages

Multimodal Imaging of Dual BEST1/EFEMP1-Associated Hereditary Macular Disease

  • Maximilian Pawloff,
  • Marlene Hollaus,
  • Georgios Mylonas,
  • Michael Pircher,
  • Christoph K. Hitzenberger,
  • Mateja Pfeifer,
  • Jose S. Pulido,
  • Graham E. Holder,
  • Stefan Sacu and
  • Markus Ritter

13 July 2026

Purpose: To describe the morphological and functional features of two patients phenotypically and genotypically diagnosed with Best disease and autosomal dominant drusen (BD-ADD) using multimodal imaging. It is hypothesized that the concurrent presen...

(This article belongs to the Special Issue Clinical Research in Macular Degeneration and Other Retinal Diseases)
  • Case Report
  • Open Access
8 Citations
3,969 Views
6 Pages

Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations

  • Maxim Verlee,
  • Aude Beyens,
  • Alper Gezdirici,
  • Elif Yilmaz Gulec,
  • Lore Pottie,
  • Silke De Feyter,
  • Michiel Vanhooydonck,
  • Piyanoot Tapaneeyaphan,
  • Sofie Symoens and
  • Bert Callewaert

31 March 2021

Hereditary disorders of connective tissue (HDCT) compromise a heterogeneous group of diseases caused by pathogenic variants in genes encoding different components of the extracellular matrix and characterized by pleiotropic manifestations, mainly aff...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
489 Views
22 Pages

EFEMP2 Is Associated with Shelterin-Related DNA Damage Repair, Immune Microenvironment Features, and Prognosis in Glioblastoma

  • Jiaxiang Wang,
  • Chunbo Liu,
  • Fushu Luo,
  • Yongye Zhu,
  • Zheng Chen,
  • Yutao Zhang,
  • Changwu Wu,
  • Qing Liu and
  • Jun Tan

Background: Glioblastoma (GBM) carries a median overall survival below 15 months despite aggressive multimodal therapy. Treatment resistance reflects the interplay of genomic instability, dysregulated DNA damage repair (DDR), and an immunosuppressive...

(This article belongs to the Section Molecular Genetics and Genetic Diseases)
  • Review
  • Open Access
64 Citations
7,309 Views
24 Pages

The Pathophysiological Significance of Fibulin-3

  • Imogen Livingstone,
  • Vladimir N. Uversky,
  • Dominic Furniss and
  • Akira Wiberg

8 September 2020

Fibulin-3 (also known as EGF-containing fibulin extracellular matrix protein 1 (EFEMP1)) is a secreted extracellular matrix glycoprotein, encoded by the EFEMP1 gene that belongs to the eight-membered fibulin protein family. It has emerged as a functi...

  • Article
  • Open Access
2,880 Views
29 Pages

27 August 2026

Bovine leukemia virus (BLV), a major cause of B-cell lymphoma in cattle worldwide, has been linked to human breast cancer. Here, we performed comparative whole-transcriptome analysis of single clones of human epithelial 293T, breast cancer MCF7, and...

(This article belongs to the Section Human Virology and Viral Diseases)
  • Article
  • Open Access
1 Citations
2,182 Views
15 Pages

This study examined the patterns of epidermal growth-factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1) deposition in the small intestine and colon to evaluate the association between the histopathological severity of EFEMP1 depos...

(This article belongs to the Section Molecular Neurobiology)
  • Article
  • Open Access
70 Citations
7,839 Views
20 Pages

11 February 2019

Melanoma is a highly aggressive cancer with high mortality in advanced stages.

Metformin is an oral biguanide drug used for diabetes and has demonstrated positive effects on

cancer prevention and treatment. Herein, we found that metformin significantly...

(This article belongs to the Special Issue MicroRNA-Associated Cancer Metastasis)
  • Article
  • Open Access
8 Citations
3,502 Views
19 Pages

Differential Epigenetic Status and Responses to Stressors between Retinal Cybrids Cells with African versus European Mitochondrial DNA: Insights into Disease Susceptibilities

  • Shari R. Atilano,
  • Sina Abedi,
  • Narcisa V. Ianopol,
  • Mithalesh K. Singh,
  • J Lucas Norman,
  • Deepika Malik,
  • Payam Falatoonzadeh,
  • Marilyn Chwa,
  • Anthony B. Nesburn and
  • M. Cristina Kenney
  • + 1 author

26 August 2022

Mitochondrial (mt) DNA can be classified into haplogroups, which represent populations with different geographic origins. Individuals of maternal African backgrounds (L haplogroup) are more prone to develop specific diseases compared those with mater...

(This article belongs to the Special Issue Epigenetic Mechanisms Underlying Ageing and Age-Related Diseases)
  • Article
  • Open Access
517 Views
15 Pages

25 May 2026

Background: Diffuse glioma is the most common and lethal primary malignant brain tumor, with a complicated tumor microenvironment reported. However, the role of the extracellular matrix (ECM) in diffuse gliomas remains unclear. Methods: To investigat...

(This article belongs to the Special Issue Glioma: From Pathology to Clinical Management)
  • Article
  • Open Access
2 Citations
2,586 Views
15 Pages

Gene and Protein Accumulation Changes Evoked in Porcine Aorta in Response to Feeding with Two Various Fructan Sources

  • Marta Marynowska,
  • Agnieszka Herosimczyk,
  • Adam Lepczyński,
  • Marcin Barszcz,
  • Adrianna Konopka,
  • Aleksandra Dunisławska and
  • Małgorzata Ożgo

14 November 2022

In this study, two different ITFs sources were incorporated into a cereal-based diet to evaluate possible aortic protein and gene changes in nursery pigs. The animals were fed two different experimental diets from the 10th day of life, supplemented w...

(This article belongs to the Special Issue Feed Evaluation for Animal Health and Product Quality)
  • Article
  • Open Access
6 Citations
4,842 Views
21 Pages

Dupuytren’s contracture belongs to a group of fibrotic diseases that have similar mechanisms but lack effective treatment and prevention options. The excessive accumulation of connective tissue in Dupuytren’s disease leads to palmar fibro...

(This article belongs to the Special Issue New Advances in Proteomics in Disease)
  • Feature Paper
  • Article
  • Open Access
10 Citations
3,807 Views
19 Pages

A Comparative Analysis of Naïve Exosomes and Enhanced Exosomes with a Focus on the Treatment Potential in Ovarian Disorders

  • Mohammad Mousaei Ghasroldasht,
  • Farzana Liakath Ali,
  • Hang-Soo Park,
  • Morteza Hadizadeh,
  • Shao Huan Samuel Weng,
  • Allen Huff,
  • Somayeh Vafaei and
  • Ayman Al-Hendy

30 April 2024

Exosome-based therapy has emerged as a promising strategy for addressing diverse disorders, indicating the need for further exploration of the potential therapeutic effects of the exosome cargos. This study introduces “enhanced exosomes”,...

(This article belongs to the Special Issue Interdisciplinary Approach and Personalized Therapy for Gynecological Disease)
  • Article
  • Open Access
18 Citations
5,092 Views
28 Pages

Identification of Estrogen Signaling in a Prioritization Study of Intraocular Pressure-Associated Genes

  • Hannah A. Youngblood,
  • Emily Parker,
  • Jingwen Cai,
  • Kristin Perkumas,
  • Hongfang Yu,
  • Jason Sun,
  • Sylvia B. Smith,
  • Kathryn E. Bollinger,
  • Janey L. Wiggs and
  • Yutao Liu
  • + 3 authors

24 September 2021

Elevated intraocular pressure (IOP) is the only modifiable risk factor for primary open-angle glaucoma (POAG). Herein we sought to prioritize a set of previously identified IOP-associated genes using novel and previously published datasets. We identi...

(This article belongs to the Special Issue Glaucoma: From Pathophysiology to Novel Therapies)
  • Article
  • Open Access
6 Citations
6,891 Views
21 Pages

Insight into the Candidate Genes and Enriched Pathways Associated with Height, Length, Length to Height Ratio and Body-Weight of Korean Indigenous Breed, Jindo Dog Using Gene Set Enrichment-Based GWAS Analysis

  • Sunirmal Sheet,
  • Jong-Seok Kim,
  • Min-Jeong Ko,
  • Na-Yeon Kim,
  • Young-Jo Lim,
  • Mi-Rim Park,
  • Seung-Jin Lee,
  • Jeong-Min Kim,
  • Seok-Il Oh and
  • Bong-Hwan Choi

2 November 2021

As a companion and hunting dog, height, length, length to height ratio (LHR) and body-weight are the vital economic traits for Jindo dog. Human selection and targeted breeding have produced an extraordinary diversity in these traits. Therefore, the i...

(This article belongs to the Section Animal Genetics and Genomics)
  • Communication
  • Open Access
5 Citations
4,722 Views
12 Pages

Matrisome Transcriptome Dynamics during Tissue Aging

  • Zulfiya G. Guvatova,
  • Anastasiya A. Kobelyatskaya,
  • Eveline R. Kudasheva,
  • Elena A. Pudova,
  • Elizaveta V. Bulavkina,
  • Alexey V. Churov,
  • Olga N. Tkacheva and
  • Alexey A. Moskalev

7 May 2024

The extracellular matrix (ECM) is a complex three-dimensional network of macromolecules that provides structural support for the cells and plays a significant role in tissue homeostasis and repair. Growing evidence indicates that dysregulation of ECM...

(This article belongs to the Section Genomics and Proteomics)
  • Article
  • Open Access
4 Citations
3,088 Views
13 Pages

Outstanding Characteristics of Birt–Hogg–Dube Syndrome in Korea

  • Hye Jung Park,
  • Yong Jun Choi,
  • Chul Hwan Park,
  • Tae Hoon Kim,
  • Sung Soo Lee,
  • Duk Hwan Moon,
  • Kyung-A Lee,
  • Sang Eun Lee,
  • Moo Suk Park and
  • Min Kwang Byun
  • + 9 authors

Birt–Hogg–Dube (BHD) is a rare genetic disorder characterized by multiple lung cysts, typical skin manifestations, and renal tumors. We prospectively enrolled thirty-one subjects from four South Korean institutions with typical lung cysts...

(This article belongs to the Section Biomedical Optics)
  • Article
  • Open Access
10 Citations
4,174 Views
16 Pages

Pinpointing Novel Plasma and Brain Proteins for Common Ocular Diseases: A Comprehensive Cross-Omics Integration Analysis

  • Qinyou Mo,
  • Xinyu Liu,
  • Weiming Gong,
  • Yunzhuang Wang,
  • Zhongshang Yuan,
  • Xiubin Sun and
  • Shukang Wang

24 September 2024

The pathogenesis of ocular diseases (ODs) remains unclear, although genome-wide association studies (GWAS) have identified numerous associated genetic risk loci. We integrated protein quantitative trait loci (pQTL) datasets and five large-scale GWAS...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Systematic Review
  • Open Access
4 Citations
4,743 Views
14 Pages

15 May 2025

Background: Colonic diverticulosis is a common condition, particularly in the elderly population. While dietary habits, obesity, smoking, and physical inactivity contribute to its pathogenesis, emerging evidence highlights a genetic predisposition af...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
8 Citations
6,094 Views
27 Pages

Identifying Molecular Signatures of Distinct Modes of Collective Migration in Response to the Microenvironment Using Three-Dimensional Breast Cancer Models

  • Diana Catalina Ardila,
  • Vaishali Aggarwal,
  • Manjulata Singh,
  • Ansuman Chattopadhyay,
  • Srilakshmi Chaparala and
  • Shilpa Sant

20 March 2021

Collective cell migration is a key feature of transition of ductal carcinoma in situ (DCIS) to invasive ductal carcinoma (IDC) among many other cancers, yet the microenvironmental factors and underlying mechanisms that trigger collective migration re...

(This article belongs to the Special Issue Mesenchymal-Epithelial Transition in Cellular Reprogramming and Cancer)