ArticleFrontiers in genetics2020
Novel Compound Heterozygous
Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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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.
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.
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Who cites it
8 citing papers in PubMed, 15 citations in OpenAlex.
- Structural insight into the CUB2 domain's role in enteropeptidase-mediated trypsinogen activation.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Enterokinase deficiency associated with novel TMPRSS15 gene mutations: a case report.Frontiers in pediatrics · 2025Article
- Hepatic Global Transcriptomic Profiles of Holstein Cows According to Parity Reveal Age-Related Changes in Early Lactation.International journal of molecular sciences · 2023Article
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Effect of Rotavirus Infection and 2'-Fucosyllactose Administration on Rat Intestinal Gene Expression.Nutrients · 2023Article
- Cryo-EM structures reveal the activation and substrate recognition mechanism of human enteropeptidase.Nature communications · 2022Article
- The Global Status and Trends of Enteropeptidase: A Bibliometric Study.Frontiers in medicine · 2022Article
- Prenatal Diagnosis and Genetic Analysis of 21q21.1-q21.2 Aberrations in Seven Chinese Pedigrees.Frontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEnterokinase deficiency (EKD) is a rare autosomal recessively inherited disorder mainly characterized by diarrhea, hypoproteinemia and failure to thrive in infancy. Loss-of-function variants in the
methodsWe report the clinical manifestations and molecular basis of EKD in a Chinese child. We investigated
resultsThe proband presented with intractable diarrhea accompanied by vomiting, failure to thrive and hypoproteinemia in his second year. Genetic analysis showed that the patient was compound heterozygous for two variants in the
conclusionWe reported an EKD patient with novel compound heterozygous variants in the
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Registered trials
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.