Biliary Atresia: A Complex Hepatobiliary Disease with Variable Gene Involvement, Diagnostic Procedures, and Prognosis

Sergi, Consolato; Gilmour, Susan

doi:10.3390/diagnostics12020330

Cited by 6 publications

(4 citation statements)

References 84 publications

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“…Notably, one of the most connected proteins is adducin 3 (ADD3), involved in the assembly of the actin filament network at sites of cell-cell contact. This gene is a marker of biliary atresia 53 , a pathology also associated to HCMV infection 54 . Functions related to adhesion and extracellular matrix organization are also over-represented in the rest of the communities, consistent with a global downregulation of these processes in HCMV infected cells 55 .…”

Section: Resultsmentioning

confidence: 99%

Virus-host protein co-expression networks reveal temporal organization and strategies of viral infection

Aguirre,

Guantes

2023

Preprint

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Viral replication is a complex dynamical process involving the global remodelling of the host cellular machinery across several stages. In this study, we provide a unified view of the virus-host interaction at the proteome level reconstructing protein co-expression networks from quantitative temporal data of four large DNA viruses. We take advantage of a formal framework, the theory of interacting networks, to describe the viral infection as a dynamical system taking place on a network of networks where perturbations induced by viral proteins spread to hijack the host proteome for the virus benefit. Our methodology demonstrates how the viral replication cycle can be effectively examined as a complex interaction between protein networks, providing useful insights into the viral and host temporal organization and strategies, key protein nodes targeted by the virus and dynamical bottlenecks during the course of the infection.

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Section: Resultsmentioning

confidence: 99%

Virus-host protein co-expression networks reveal temporal organization and strategies of viral infection

Aguirre,

Guantes

2023

Preprint

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“…The underlying reason for the discrepancy may be due to differences in population genetics and predisposition to environmental factors between the East and West. Several candidate genes, such as ADD3 and GPC1, have been shown to associate with BA 144 . A viral trigger causing biliary obstruction in utero has long been considered a possible aetiological factor.…”

Section: Hepatobiliarymentioning

confidence: 99%

Major surgical conditions of childhood and their lifelong implications: comprehensive review

Cullis,

Fouad,

Goldstein

et al. 2024

BJS Open

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Background In recent decades, the survival of children with congenital anomalies and paediatric cancer has improved dramatically such that there has been a steady shift towards understanding their lifelong health outcomes. Paediatric surgeons will actively manage such conditions in childhood and adolescence, however, adult surgeons must later care for these ‘grown-ups’ in adulthood. This article aims to highlight some of those rare disorders encountered by paediatric surgeons requiring long-term follow-up, their management in childhood and their survivorship impact, in order that the adult specialist may be better equipped with skills and knowledge to manage these patients into adulthood. Methods A comprehensive literature review was performed to identify relevant publications. Research studies, review articles and guidelines were sought, focusing on the paediatric management and long-term outcomes of surgical conditions of childhood. The article has been written for adult surgeon readership. Results This article describes the aforementioned conditions, their management in childhood and their lifelong implications, including: oesophageal atresia, tracheo-oesophageal fistula, malrotation, short bowel syndrome, duodenal atresia, gastroschisis, exomphalos, choledochal malformations, biliary atresia, Hirschsprung disease, anorectal malformations, congenital diaphragmatic hernia, congenital lung lesions and paediatric cancer. Conclusion The increasing survivorship of children affected by surgical conditions will translate into a growing population of adults with lifelong conditions and specialist healthcare needs. The importance of transition from childhood to adulthood is becoming realized. It is hoped that this timely review will enthuse the readership to offer care for such vulnerable patients, and to collaborate with paediatric surgeons in providing successful and seamless transitional care.

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“…The influence of antenatal exposure to environment factors such as cytomegalovirus (CMV), intraamniotic infection, and medication therapy on BA pathogenic mechanisms is uncertain [ 10 ]. Accumulating evidence demonstrated that genetic element might be of key importance for the pathogenesis of BA [ 11 ]. Genome-wide association studies (GWASs) have found that certain genes, such as ADD3 and XPNPEP1 , may increase a person's susceptible to BA [ 12 , 13 ].…”

Section: Introductionmentioning

confidence: 99%

MiR-100 rs1834306 A>G Increases Biliary Atresia Risk in Southern Han Chinese Children

Chang

Liang

Chai

et al. 2023

BioMed Research International

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Background. Biliary atresia (BA) is a type of severe cholestatic childhood disease that may have a genetic component. miR-100 plays a key role in regulating cell apoptosis, proliferation, and inflammatory reactions. A single-nucleotide polymorphism in miR-100 has been proven to modulate susceptibility to various diseases. Methods. We conducted a case-control retrospective study to explore the correlation between miR-100 gene polymorphism (rs1834306 A>G) and biliary atresia susceptibility in 484 Chinese patients and 1445 matched control subjects. Results. Our results showed that rs1834306 A>G was correlated with a significantly increased risk for BA (GG vs. AA: adjusted odds ratio OR = 1.44 , 95 % confidence interval CI = 1.02 – 2.03 , p = 0.041 ; and GG vs. AA/AG: adjusted OR = 1.39 , 95 % CI = 1.02 – 1.89 , p = 0.036 ). Conclusions. Our results showed that the rs1834306 A>G polymorphism is associated with an increased risk for BA and contributes to BA susceptibility.

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Biliary Atresia: A Complex Hepatobiliary Disease with Variable Gene Involvement, Diagnostic Procedures, and Prognosis

Cited by 6 publications

References 84 publications

Virus-host protein co-expression networks reveal temporal organization and strategies of viral infection

Virus-host protein co-expression networks reveal temporal organization and strategies of viral infection

Major surgical conditions of childhood and their lifelong implications: comprehensive review

MiR-100 rs1834306 A>G Increases Biliary Atresia Risk in Southern Han Chinese Children

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