Exome sequencing in patient‐parent trios suggests new candidate genes for early‐onset primary sclerosing cholangitis

Haisma, Sjoukje-Marije; Weersma, Rinse K.; Joosse, Maria E.; Koning, Barbara A E de; Meij, Tim de; Koot, Bart; Wolters, Victorien M.; Norbruis, Obbe F.; Daly, Mark J.; Stevens, Christine; Xavier, Ramnik J.; Koskela, Jukka; Rivas, Manuel A.; Visschedijk, Marijn C.; Verkade, Henkjan J.; Barbieri, Ruggero; Jansen, Demc; Festen, Eleonora A. M.; Rheenen, Patrick F. van; Diemen, Cleo C. van

doi:10.1111/liv.14831

Cited by 5 publications

(2 citation statements)

References 59 publications

(53 reference statements)

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“…No treatment options to date, such as oral vancomycin or ursodeoxycholic acid, are associated with improved fibrosis in pediatric PSC [ 20 , 21 ]. Haisma et al [ 22 ] performed a genome-wide association study of 29 patient-parent trios with PSC onset at ≤12 years of age. They found pathogenic variants in 22 of 29 of patients and that some of the genes were involved in transmembrane transport, adaptive and innate immunity, and epithelial barrier function.…”

Section: Pediatric Liver Diseasesmentioning

confidence: 99%

Liver fibrosis in children: a comprehensive review of mechanisms, diagnosis, and therapy

Özdoğan

Arıkan

2023

Clin Exp Pediatr

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Chronic liver disease incidence is increasing among children worldwide due to a multitude of epidemiological changes. Most of these chronic insults to the pediatric liver progress to fibrosis and cirrhosis to different degrees. Liver and immune physiology differs significantly in children from adults. Because most of pediatric liver diseases have no definitive therapy, a better understanding of population and disease-specific fibrogenesis is mandatory. Furthermore, fibrosis development has prognostic significance and often guide treatment. Evaluation of liver fibrosis continues to rely on the gold-standard liver biopsy. However, many high-quality studies put forward the high diagnostic accuracy of numerous diagnostic modalities in this setting. Herein, we summarize and discuss the recent literature on fibrogenesis with an emphasis on pediatric physiology along with a detailed outline of disease-specific signatures, noninvasive diagnostic modalities, and the potential for antifibrotic therapies.

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Section: Pediatric Liver Diseasesmentioning

confidence: 99%

Liver fibrosis in children: a comprehensive review of mechanisms, diagnosis, and therapy

Özdoğan

Arıkan

2023

Clin Exp Pediatr

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“…On the other hand, WES may also assist in understanding the causes of early‐onset paediatric liver disorders 16 . New diseases are being discovered, other increasingly characterized, and liver involvement is being included within the phenotypic spectrum of manifestations of new genetic disorders.…”

Section: Figurementioning

confidence: 99%