Evidence map›Paper›PMID 42435330›Full record

ArticleInflammatory bowel diseases2026

Novel SLC10A2 variants induce primary bile acid malabsorption and dysbiosis with IBD-like features.

Casey R Johnson, Lily Gillette, Qurbonali Qurbonov, Abigail Plone, Stefanie S Schmieder, Michael Anderson, Katie Cibelli, Yanjia Jason Zhang, Krishnan Raghunathan, Michael Field and 5 more

Abstract readCase Reports
In one paragraph

Article in Inflammatory bowel diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors.

Casey R JohnsonDivision of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.ORCID 0000-0001-9948-1243
Lily GilletteDivision of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.ORCID 0009-0000-9663-8671
Qurbonali QurbonovDivision of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.ORCID 0009-0002-8881-4465
Abigail PloneDivision of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.ORCID 0009-0009-8304-7659
Stefanie S SchmiederDivision of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.ORCID 0000-0002-3696-9468
Michael AndersonDivision of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.ORCID 0000-0001-6395-5726
Katie CibelliDivision of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Yanjia Jason ZhangDivision of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.ORCID 0000-0002-4043-5151
Krishnan RaghunathanDivision of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.ORCID 0000-0003-2228-6313
Michael FieldDivision of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.ORCID 0000-0002-4003-0568
Alka GoyalDepartment of Pediatric Gastroenterology, Hepatology and Nutrition, Stanford University, Stanford, CA, United States.ORCID 0000-0002-9605-3734
Stacy A KahnDivision of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.ORCID 0000-0002-8001-6955
Scott B SnapperDivision of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.ORCID 0000-0003-0267-4247
Jocelyn A SilvesterDivision of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.ORCID 0000-0002-3615-1666
Jay R ThiagarajahDivision of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.ORCID 0000-0002-1437-325X

Funding

Pediatric Scientist Development Program (PSDP) [K12]K12HD000850 · NICHD · YALE UNIVERSITY · PI Sallie R. Permar · 1987 to 2026
$44.1M
STRUCTURE-FUNCTION RELATIONSHIPS IN THE ALIMENTARY TRACTP30DK034854 · NIDDK · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI JONATHAN C KAGAN · 1986 to 2026
$32.4M
COngenital Diarrhea and Enteropathy (PediCODE) Consortium and BioRepositoryRC2DK118640 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI James Richard Goldenring, Izumi Kaji · 2019 to 2026
$14.8M
Identifying Immune and Epithelial Network Signatures in Very Early Onset Inflammatory Bowel DiseaseRC2DK122532 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI KLEIN, CHRISTOPH, MUISE, ALEIXO M · 2020 to 2024
$9.1M
American Gastroenterological Association Research ScholarAmerican Gastroenterological Association Research Scholar AwardEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentHelmsley Charitable Trust P30DK034854Leona M. and Harry B. Helmsley Charitable Trust P30DK034854NICHD NIH HHS K12 HD000850NICHD NIH HHS K12-HD000850NIDDK NIH HHS P30 DK034854NIDDK NIH HHS P30DK034854NIDDK NIH HHS RC2 DK118640NIDDK NIH HHS RC2DK118640NIDDK NIH HHS RC2 DK122532NIDDK NIH HHS RC2DK122532NIH HHS K12-HD000850NIH HHS P30DK034854NIH HHS RC2DK118640NIH HHS RC2DK122532Pediatric Scientist Development Program
6 · The paper itself

Abstract

We describe biochemically and functionally validated primary bile acid malabsorption caused by novel biallelic SLC10A2 variants in a child initially diagnosed with Crohn's disease. Pediatric IBD cohort reanalysis identified PBAM-compatible genotypes, supporting selective testing when clinical features are suggestive.

Indexed as

Bile Acids and SaltsCrohn DiseaseDysbiosisInflammatory Bowel DiseasesMalabsorption SyndromesOrganic Anion Transporters, Sodium-DependentSteatorrheaSymportersDiarrheaFemaleHumansBile Acids and SaltsOrganic Anion Transporters, Sodium-Dependentsodium-bile acid cotransporterSymportersapical sodium-dependent bile acid transporter (ASBT)bile acid diarrheaClostridioides difficile infectionprimary bile acid malabsorptionSLC10A2

Identifiers

PMID42435330
PMCPMC13533200

What OpenQuestion holds

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Registered trials

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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.