Evidence map›Paper›PMID 37582400›Full record

ReviewSeminars in liver disease2023

Genetic Contributions to Biliary Atresia: A Developmental Cholangiopathy.

Dominick J Hellen, Saul J Karpen

Erratum issuedAbstract readReview
In one paragraph

Review in Seminars in liver disease, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
3.5field-weighted citation impact, top 7% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Heritable Chronic Cholestatic Liver Diseases: A Review.Journal of clinical and translational hepatology · 2024
    Review
  3. Article
  4. Article
  5. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

2 authors at 1 institution in 1 country.

Dominick J HellenDivision of Pediatric Gastroenterology, Hepatology, and Nutrition, Children's Healthcare of Atlanta and Emory University School of Medicine, Atlanta, Georgia.ORCID 0000-0002-2793-399X
Saul J KarpenDivision of Pediatric Gastroenterology, Hepatology, and Nutrition, Children's Healthcare of Atlanta and Emory University School of Medicine, Atlanta, Georgia.ORCID 0000-0002-3379-7592
Emory University · US

Funding

PREDOCTORAL TRAINING PROGRAM IN GENETICST32GM008490 · NIGMS · EMORY UNIVERSITY · PI BOSS, JEREMY M. · 1993 to 2022
$8.0M
Modeling genetic contributions to biliary atresiaR01DK135815 · NIDDK · VIRGINIA COMMONWEALTH UNIVERSITY · PI SAUL J. KARPEN · 2023 to 2026
$2.4M
Roles for Pkd1l1 in bile duct developmentF31DK137565 · NIDDK · EMORY UNIVERSITY · PI HELLEN, DOMINICK · 2023 to 2023
$39k
NIDDK NIH HHS R01 DK135815NIH HHS F31DK137565NIH HHS T32GM008490
6 · The paper itself

Abstract

Biliary atresia (BA) is the most prevalent serious liver disease of infancy and childhood, and the principal indication for liver transplantation in pediatrics. BA is best considered as an idiopathic panbiliary cholangiopathy characterized by obstruction of bile flow and consequent cholestasis presenting during fetal and perinatal periods. While several etiologies have been proposed, each has significant drawbacks that have limited understanding of disease progression and the development of effective treatments. Recently, modern genetic analyses have uncovered gene variants contributing to BA, thereby shifting the paradigm for explaining the BA phenotype from an acquired etiology (e.g., virus, toxin) to one that results from genetically altered cholangiocyte development and function. Herein we review recently reported genetic contributions to BA, highlighting the enhanced representation of variants in biological pathways involving ciliary function, cytoskeletal structure, and inflammation. Finally, we blend these findings as a new framework for understanding the resultant BA phenotype as a developmental cholangiopathy.

Indexed as

Biliary AtresiaCholestasisLiver TransplantationAnimalsChildDisease Models, AnimalFemaleHumansInflammationPregnancy

Identifiers

PMID37582400
PMCPMC13060548
OpenAlexW4385829078

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.