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REVIEW
Xiaoying Hu, Guoqin Wang, Hong Cheng
Membranous nephropathy (MN) is a glomerular disease mediated by autoimmune complex deposition, with approximately 30% of cases attributed to secondary causes. Among them, malignant tumors are a significant cause of secondary MN. Recent advancements in the identification of MN-specific antigens, such as THSD7A and NELL-1, suggest a potential association with malignant tumors, yet definitive proof of this relationship remains elusive. Therefore, this article aims to review the distribution of MN-specific antigens in patients with MN caused by malignant tumors and the possible role of these antigens in the pathogenesis of the disease...
2024: Frontiers in Medicine
#2
JOURNAL ARTICLE
Bryan R Gorman, Michael Francis, Cari L Nealon, Christopher W Halladay, Nalvi Duro, Kyriacos Markianos, Giulio Genovese, Pirro G Hysi, Hélène Choquet, Natalie A Afshari, Yi-Ju Li, J Michael Gaziano, Adriana M Hung, Wen-Chih Wu, Paul B Greenberg, Saiju Pyarajan, Jonathan H Lass, Neal S Peachey, Sudha K Iyengar
Fuchs endothelial corneal dystrophy (FECD) is a leading indication for corneal transplantation, but its molecular etiology remains poorly understood. We performed genome-wide association studies (GWAS) of FECD in the Million Veteran Program followed by multi-ancestry meta-analysis with the previous largest FECD GWAS, for a total of 3970 cases and 333,794 controls. We confirm the previous four loci, and identify eight novel loci: SSBP3, THSD7A, LAMB1, PIDD1, RORA, HS3ST3B1, LAMA5, and COL18A1. We further confirm the TCF4 locus in GWAS for admixed African and Hispanic/Latino ancestries and show an enrichment of European-ancestry haplotypes at TCF4 in FECD cases...
April 6, 2024: Communications Biology
#3
JOURNAL ARTICLE
Hamza Naciri Bennani, Augustin Twite Banza, Diane Giovannini, Lionel Motte, Johan Noble, Alexandra Corbu, Paolo Malvezzi, Thomas Jouve, Lionel Rostaing
Membranous nephropathy constitutes approximately 20% of adult nephrotic syndrome cases. In approximately 80% of cases, membranous nephropathy is primary, mediated by IgG autoantibodies primarily targeting podocyte antigens (PLA2R, THSD7A, etc.). The treatment involves a combination of corticosteroids and cyclophosphamide or anti-CD20-based therapies, e.g., rituximab. In the event of significant proteinuria and in order to avoid the urinary elimination of rituximab, therapeutic apheresis, in particular semi-specific immunoadsorption, may be an option allowing for a reduction in proteinuria and autoantibodies before initiating treatment with rituximab...
February 26, 2024: Journal of Personalized Medicine
#4
Maria Koromina, Ashvin Ravi, Georgia Panagiotaropoulou, Brian M Schilder, Jack Humphrey, Alice Braun, Tim Bidgeli, Chris Chatzinakos, Brandon Coombes, Jaeyoung Kim, Xiaoxi Liu, Chikashi Terao, Kevin S O 'Connell, Mark Adams, Rolf Adolfsson, Martin Alda, Lars Alfredsson, Till F M Andlauer, Ole A Andreassen, Anastasia Antoniou, Bernhard T Baune, Susanne Bengesser, Joanna Biernacka, Michael Boehnke, Rosa Bosch, Murray Cairns, Vaughan J Carr, Miquel Casas, Stanley Catts, Sven Cichon, Aiden Corvin, Nicholas Craddock, Konstantinos Dafnas, Nina Dalkner, Udo Dannlowski, Franziska Degenhardt, Arianna Di Florio, Dimitris Dikeos, Frederike Tabea Fellendorf, Panagiotis Ferentinos, Andreas J Forstner, Liz Forty, Mark Frye, Janice M Fullerton, Micha Gawlik, Ian R Gizer, Katherine Gordon-Smith, Melissa J Green, Maria Grigoroiu-Serbanescu, José Guzman-Parra, Tim Hahn, Frans Henskens, Jan Hillert, Assen V Jablensky, Lisa Jones, Ian Jones, Lina Jonsson, John R Kelsoe, Tilo Kircher, George Kirov, Sarah Kittel-Schneider, Manolis Kogevinas, Mikael Landén, Marion Leboyer, Melanie Lenger, Jolanta Lissowska, Christine Lochner, Carmel Loughland, Donald MacIntyre, Nicholas G Martin, Eirini Maratou, Carol A Mathews, Fermin Mayoral, Susan L McElroy, Nathaniel W McGregor, Andrew McIntosh, Andrew McQuillin, Patricia Michie, Vihra Milanova, Philip B Mitchell, Paraskevi Moutsatsou, Bryan Mowry, Bertram Müller-Myhsok, Richard Myers, Igor Nenadić, Markus M Nöthen, Claire O'Donovan, Michael O'Donovan, Roel A Ophoff, Michael J Owen, Chris Pantelis, Carlos Pato, Michele T Pato, George P Patrinos, Joanna M Pawlak, Roy H Perlis, Evgenia Porichi, Danielle Posthuma, Josep Antoni Ramos-Quiroga, Andreas Reif, Eva Z Reininghaus, Marta Ribasés, Marcella Rietschel, Ulrich Schall, Thomas G Schulze, Laura Scott, Rodney J Scott, Alessandro Serretti, Cynthia Shannon Weickert, Jordan W Smoller, Maria Soler Artigas, Dan J Stein, Fabian Streit, Claudio Toma, Paul Tooney, Eduard Vieta, John B Vincent, Irwin D Waldman, Thomas Weickert, Stephanie H Witt, Kyung Sue Hong, Masashi Ikeda, Nakao Iwata, Beata Świątkowska, Hong-Hee Won, Howard J Edenberg, Stephan Ripke, Towfique Raj, Jonathan R I Coleman, Niamh Mullins
Bipolar disorder (BD) is a heritable mental illness with complex etiology. While the largest published genome-wide association study identified 64 BD risk loci, the causal SNPs and genes within these loci remain unknown. We applied a suite of statistical and functional fine-mapping methods to these loci, and prioritized 22 likely causal SNPs for BD. We mapped these SNPs to genes, and investigated their likely functional consequences by integrating variant annotations, brain cell-type epigenomic annotations, brain quantitative trait loci, and results from rare variant exome sequencing in BD...
February 13, 2024: medRxiv
#5
JOURNAL ARTICLE
Larissa Seifert, Kristoffer Riecken, Gunther Zahner, Julia Hambach, Julia Hagenstein, Gudrun Dubberke, Tobias B Huber, Friedrich Koch-Nolte, Boris Fehse, Nicola M Tomas
No abstract text is available yet for this article.
February 1, 2024: Kidney International
#6
Salvatore E Mignano, Virginie Pascal, Nnaemezie E Odioemene, William Forehand, Vincent Javaugue, Samar M Said, Sanjeev Sethi, Christophe Sirac, Samih H Nasr
Monoclonal immunoglobulin (MIg) crystalline nephropathies are rare lesions resulting from precipitation of MIgs in the kidney as intracellular or extracellular crystals. We describe a patient with multiple myeloma (IgGλ) and diabetes who presented with nephrotic range proteinuria. Kidney biopsy revealed membranous nephropathy superimposed on diabetic glomerulosclerosis. Glomeruli were negative for PLA2R, THSD7A, and NELL-1. Ultrastructurally, the subepithelial deposits were composed of crystals (ranging from rhomboid to rod to needle shaped), which failed to stain for immunoglobulins by routine immunofluorescence but stained for IgG + λ by paraffin immunofluorescence after pronase digestion...
January 22, 2024: American Journal of Kidney Diseases
#7
Ai Fujii, Norifumi Hayashi, Hideto Fujita, Hitoshi Yokoyama, Kengo Furuichi
Recently, the association between membranous nephropathy (MN) and malignancy has been recognized in about 30% of epidermal growth factor-like 1 (NELL-1) positive cases. However, the mechanism of association with MN and malignancy remains under search. In this report, we present a unique case of MN with positive staining for both thrombospondin type-1 domain-containing 7A (THSD7A) and NELL-1. An 80-year-old Japanese woman with nephrotic syndrome (NS) was diagnosed as an immunoglobulin (Ig)G1 subclass predominant secondary MN with weakly positive for THSD7A staining...
December 2023: Curēus
#8
JOURNAL ARTICLE
P A Kakhsurueva, E S Kamyshova, I N Bobkova, E V Stavrovskaya, T E Rudenko, E Y Andreeva
BACKGROUND: Membranous nephropathy (MN) is an immunocomplex glomerular disease, which is the most common cause of nephrotic syndrome in adults. Numerous studies have established that autoantibodies against the target podocyte autoantigens, including the thrombospondin type 1 domain containing 7A (THSD7A), play a leading role in the development of idiopathic MN. AIM: To evaluate the prevalence of anti-THSD7A autoantibodies (anti-THSD7A AB) in a group of Russian patients with MN...
August 17, 2023: Terapevticheskiĭ Arkhiv
#9
JOURNAL ARTICLE
NaNa Fu, Shuang Yuan, Guang Yang, Hang Li, Tao Wang
The understanding of membranous nephropathy (MN) has undergone impressive advancements in the last 5 years, particularly due to identification of novel antigenic targets. M-type phospholipase A2 receptor (PLA2R) and thrombospondin type 1 domain-containing 7A (THSD7A) account for approximately 70% and 1-5% of the target antigens in primary MN, respectively. Recently, more novel/putative antigens have been identified in the remaining cases of MN that include exostosin 1/exostosin 2 (EXT1/EXT2), neural epidermal growth factor-like 1 protein (NELL-1), semaphorin 3B (SEMA3B) and protocadherin 7 (PCDH7)...
December 25, 2023: CEN Case Reports
#10
Biomolecules Editorial Office
It has come to our attention that an error occurred in the "Methods and Materials" section of this manuscript [...].
November 27, 2023: Biomolecules
#11
Mina Al-Khazraji, Inam A Al-Mufti, Yamama Al-Khazraji
Large B-cell lymphoma associated with membranous nephropathy (MN) is a rare and complex medical condition that involves the simultaneous presence of two distinct diseases: a malignant lymphoma and a kidney disorder called membranous nephropathy. In this case, there is an additional element of interest, which is the presence of positive Phospholipase A2 Receptor (PLA2R) in the kidney. The case involves a 53-year-old Caucasian male with a three-week history of lower leg edema and a past medical history of recurrent upper respiratory infections...
November 2023: Curēus
#12
Guang Yang, Cristina Alarcon, Catherine Chanfreau, Norman H Lee, Paula Friedman, Edith Nutescu, Matthew Tuck, Travis O'Brien, Li Gong, Teri E Klein, Kyong-Mi Chang, Philip S Tsao, David O Meltzer, Sony Tuteja, Minoli A Perera
UNLABELLED: Clopidogrel, an anti-platelet drug, used to prevent thrombosis after percutaneous coronary intervention. Clopidogrel resistance results in recurring ischemic episodes, with African Americans suffering disproportionately. The aim of this study was to identify biomarkers of clopidogrel resistance in African American patients. We conducted a genome-wide association study, including local ancestry adjustment, in 141 African Americans on clopidogrel to identify associations with high on-treatment platelet reactivity (HTPR)...
December 7, 2023: medRxiv
#13
JOURNAL ARTICLE
Shuangshuang Zhu, Xiaoting Liu, Shuling Yue, Bei Luo, Zhen Song, Xiaomeng Xu, Lin Wang, Xiaotao Hou, Kongshan Li, Qiming Liang, Zheya Zhou, Wenfang Chen, Lei Zheng
INTRODUCTION: The clinicopathological features of segmental membranous glomerulopathy (SMGN) have not been well characterized. The aim of this study was to investigate the prevalence and clinicopathological features of SMGN in adults. METHODS: Adult patients with biopsy-confirmed SMGN in the native kidney at our center between January 2017 to September 2020 were identified. The clinicopathological features of SMGN were collected. The glomerular deposition of IgG subclasses, M-type phospholipase A2 receptor 1 (PLA2R), thrombospondin type 1 domain-containing 7A (THSD7A), and neural epidermal growth factor-like 1 protein (NELL1) were tested...
December 2023: Kidney Diseases
#14
REVIEW
Xinyue Tang, Haoran Dai, Yuehong Hu, Wenbin Liu, Qihan Zhao, Hanxue Jiang, Zhendong Feng, Naiqian Zhang, Hongliang Rui, Baoli Liu
Membranous nephropathy (MN) occurs predominantly in middle-aged and elderly individuals and ranks among the most prevalent etiologies of elderly nephrotic syndrome. As an autoimmune glomerular disorder characterized by glomerular basement membrane thickening and immune complex deposition, conventional MN animal models, including the Heymann nephritis rat model and the c-BSA mouse model, have laid a foundation for MN pathogenesis research. However, differences in target antigens between rodents and humans have impeded this work...
November 30, 2023: Experimental Gerontology
#15
JOURNAL ARTICLE
Kaiyu Shen, Binyu Chen, Liu Yang, Wencang Gao
The biological role and prognostic value of thrombospondin domain-containing 7A (THSD7A) in gastric cancer remain unclear. Our purpose was to determine the molecular mechanisms underlying the functioning of THSD7A and its prognostic value in gastric cancer. Gastric cancer-associated single cell and bulk RNA sequencing data obtained from two databases, were analyzed. We used bulk RNA sequencing to examine the differential expression of THSD7A in gastric cancer and normal gastric tissues and explored the relationship between THSD7A expression and clinicopathological characteristics...
October 30, 2023: Aging
#16
JOURNAL ARTICLE
Kevin Yi Mi Ren, Jean Hou
INTRODUCTION: Membranous nephropathy (MN) is a common cause of adult nephrotic syndrome in the USA. The typical ultrastructural finding is of global uniformly dense subepithelial electron-dense immune complex deposits along glomerular basement membranes. However, early reports described deposits with a unique microspherular substructure. There was variability in what was identified as microspherular, sometimes overlapping with other entities such as podocyte infolding glomerulopathy. Currently, the nature, composition, and clinical significance of these microspherular deposits (MSDs) remain unknown...
2023: Glomerular diseases
#17
REVIEW
Shuiqing Jiang, Dehua Jiang, Zhiyuan Lian, Xiaohong Huang, Ting Li, Yinan Zhang
Membranous nephropathy (MN) is an autoimmune disease of the kidney glomerulus and one of the leading causes of nephrotic syndrome. The disease exhibits heterogeneous outcomes with approximately 30% of cases progressing to end-stage renal disease. Traditionally, the standard approach of diagnosing MN involves performing a kidney biopsy. Nevertheless, kidney biopsy is an invasive procedure that poses risks for the patient including bleeding and pain, and bears greater costs for the health system. The clinical management of MN has steadily advanced owing to the identification of autoantibodies to the phospholipase A2 receptor (PLA2R) in 2009 and thrombospondin domain-containing 7A (THSD7A) in 2014 on the podocyte surface...
October 26, 2023: Molecular Biotechnology
#18
JOURNAL ARTICLE
Sanjeev Sethi, Fernando C Fervenza
Membranous nephropathy (MN) is a common cause of nephrotic syndrome in adults. MN is characterized by subepithelial accumulation of immune complexes along the glomerular basement membranes (GBM). The immune complexes are composed of IgG and a target antigen. PLA2R is the target antigen in approximately 60% of MN cases, and MN is traditionally classified as PLA2R-positive or PLA2R-negative MN. Over the last 7 years, additional target antigens have been identified, which have specific disease associations, distinctive clinical and pathologic findings, and therapeutic implications...
October 20, 2023: Nephrology, Dialysis, Transplantation
#19
JOURNAL ARTICLE
Guoliang Xiang, Yanan Zhao, Di Jin, Yanbo Fang, Zhiyi Li, Xiaofeng He, Yifei Zhai, Junfang Teng, Wenjing Deng
Angiogenesis promotes neurological recovery after acute ischemic stroke (AIS), and microRNAs play crucial roles in cerebral angiogenesis. This study found that Homo sapiens-microRNA-1303(miR-1303) was reduced in blood specimens of AIS patients and human umbilical vein endothelial cells after suffering from oxygen-glucose deprivation/reperfusion. The experiment detected the effect of miR-1303 on angiogenesis by wound healing assay, tube formation assay, and transwell assay. Down-regulation of miRNA-1303 promotes angiogenesis in vitro experiments, while miR-1303 over-expression reverses this effect...
October 17, 2023: Molecular Biotechnology
#20
JOURNAL ARTICLE
Aki Kojima, Takahiro Uchida, Kentaro Sugisaki, Minami Koizumi, Ken Aoki, Mitsuya Mukae, Muneharu Yamada, Takashi Oda
RATIONALE: A predominant Th2 immune response is suggested in the pathogenesis of both minimal change disease (MCD) and membranous nephropathy (MN); however, consecutive development of the 2 diseases in a patient is extremely rare. PATIENT CONCERN: A Japanese man, who developed nephrotic syndrome in his 50s and was diagnosed with MCD by renal biopsy, experienced a relapse of proteinuria approximately 3 years later during long-term steroid treatment. Since the proteinuria was resistant to increase in steroid dosage, repeat renal biopsy was performed, which revealed a small amount of glomerular subepithelial immune deposits containing immunoglobulin (Ig)G (dominantly IgG4)...
October 13, 2023: Medicine (Baltimore)
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