Mutations in the novel gene <i><scp>FOPV</scp></i> are associated with familial autosomal dominant and non‐familial obliterative portal venopathy

Besmond, Claude; Valla, Dominique; Hubert, Laurence; Poirier, Karine; Grosse, Brigitte; Guettier, Catherine; Bernard, Olivier; Gonzalès, Emmanuel; Jacquemin, Emmanuel

doi:10.1111/liv.13547

Cited by 27 publications

(16 citation statements)

References 11 publications

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“…Disorders of immunity, prothrombotic conditions, infections, drug exposure and familiar aggregation have been documented in patients with PSVD, although a causal relation has only been established in the latter. [27][28][29] Studies aimed at further clarifying the underlying disease mechanisms are needed in order to identify new therapeutic targets.…”

Section: Discussionmentioning

confidence: 99%

Co-expression gene network analysis reveals novel regulatory pathways involved in porto-sinusoidal vascular disease

Hernández‐Gea

Campreciós

Betancourt

et al. 2021

Journal of Hepatology

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Section: Discussionmentioning

confidence: 99%

Co-expression gene network analysis reveals novel regulatory pathways involved in porto-sinusoidal vascular disease

Hernández‐Gea

Campreciós

Betancourt

et al. 2021

Journal of Hepatology

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“…INCPH has been rarely described in the pediatric population where it accounts for roughly 4.6% of all causes of PH [ 37 ]. In children, INCPH is more common in males and is more likely to be associated with an underlying malignancy or a genetic predisposition compared to adults [ 43 , 45 ].…”

Section: Epidemiologymentioning

confidence: 99%

Idiopathic Non-Cirrhotic Portal Hypertension and Porto-Sinusoidal Vascular Disease: Review of Current Data

et al. 2021

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Idiopathic non-cirrhotic portal hypertension (INCPH) is a clinicopathologic disease entity characterized by the presence of clinical signs and symptoms of portal hypertension (PH) in the absence of liver cirrhosis or known risk factors accountable for PH. Multiple hematologic, immune-related, infectious, hereditary and metabolic risk factors have been associated with this disorder. Still, the exact etiopathogenesis is largely unknown. The recently proposed portosinusoidal vascular disease (PSVD) scheme broadens the spectrum of the disease by also including patients without clinical PH who are found to have similar histopathologic findings on core liver biopsies. Three histomorphologic lesions have been identified as specific for PSVD to include obliterative portal venopathy, nodular regenerative hyperplasia and incomplete septal cirrhosis/fibrosis. However, these findings are often subtle, under-recognized and subjective with low interobserver agreement among pathologists. Additionally, the natural history of the subclinical forms of the disease remains unexplored. The clinical course is more favorable compared to cirrhosis patients, especially in the absence of clinical PH or liver dysfunction. There are no universally accepted guidelines in regard to diagnosis and treatment of INCPH/PSVD. Hence, this review emphasizes the need to raise awareness of this entity by highlighting its complex pathophysiology and clinicopathologic associations. Lastly, formulation of standardized diagnostic criteria with clinical validation is necessary to avoid misclassifying vascular diseases of the liver and to develop and implement targeted therapeutic strategies.

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“…As no muscle cells should be present in synovial biopsies, the substantial GO-term in this context refers to cytoskeleton changes (change of expression of actin filament related genes). For RP11-766F14.2 only little is known—maybe because of its just recent aliases [44], where its role in obliterative portal venopathy is described.…”

Section: Resultsmentioning

confidence: 99%

Analysis of gene expression in rheumatoid arthritis and related conditions offers insights into sex-bias, gene biotypes and co-expression patterns

et al. 2019

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The era of next-generation sequencing has mounted the foundation of many gene expression studies. In rheumatoid arthritis research, this has led to the discovery of important candidate genes which offered novel insights into mechanisms and their possible roles in the cure of the disease. In the last years, data generation has outstripped data analysis and while many studies focused on specific aspects of the disease, a global picture of the disease is not yet accomplished. Here, we analyzed and compared a collection of gene expression information from healthy individuals and from patients suffering under different arthritis conditions from published studies containing the following clinical conditions: early and established rheumatoid arthritis, osteoarthritis and arthralgia. We show comprehensive overviews of this data collection and give new insights specifically on gene expression in the early stage, into sex-dependent gene expression, and we describe general differences in expression of different biotypes of genes. Many genes that are related to cytoskeleton changes (actin filament related genes) are differently expressed in early rheumatoid arthritis in comparison to healthy subjects; interestingly, eight of these genes reverse their expression ratio significantly between men and women compared early rheumatoid arthritis and healthy subjects. There are some slighter changes between men and woman between the conditions early and established rheumatoid arthritis. Another aspect are miRNAs and other gene biotypes which are not only promising candidates for diagnoses but also change their expression grossly in average at rheumatoid arthritis and arthralgia compared to the healthy condition. With a selection of intersecting genes, we were able to generate simple classification models to distinguish between healthy and rheumatoid arthritis as well as between early rheumatoid arthritis to other arthritides based on gene expression.

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Mutations in the novel gene FOPV are associated with familial autosomal dominant and non‐familial obliterative portal venopathy

Abstract: This report suggests that FOPV mutations may have a pathogenic role in some cases of familial and non-familial OPV.

Cited by 27 publications

References 11 publications

Co-expression gene network analysis reveals novel regulatory pathways involved in porto-sinusoidal vascular disease

Co-expression gene network analysis reveals novel regulatory pathways involved in porto-sinusoidal vascular disease

Idiopathic Non-Cirrhotic Portal Hypertension and Porto-Sinusoidal Vascular Disease: Review of Current Data

Analysis of gene expression in rheumatoid arthritis and related conditions offers insights into sex-bias, gene biotypes and co-expression patterns

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