ReviewHuman mutation2021
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
Review in Human mutation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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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
18 citing papers in PubMed, 24 citations in OpenAlex.
- CRISPR/Cas9-Mediated Correction of the SLC25A38 Mutation in a Patient With Sideroblastic Anemia.The journal of gene medicine · 2026Article
- A New Gain-of-Function NLRP1 Variant Is Associated with Inflammasome Activation and Disease Severity in SLC25A38 Congenital Sideroblastic Anemia Case Report.Journal of personalized medicine · 2026Article
- Inherited microcytic anemias due to disorders of iron and heme metabolism: An updated clinical review.HemaSphere · 2026Review
- From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family.Protein science : a publication of the Protein Society · 2026Review
- A novel frameshift deletion in SLC25A38 and its role in mitochondrial dysfunction: A case study of sideroblastic anemia in a child from Iran.Annals of hematology · 2026Article
- Sideroblastic anemia in children: challenges in diagnosis and management in three cases.Annals of hematology · 2025Article
- SLC25A38 is required for mitochondrial pyridoxal 5'-phosphate (PLP) accumulation.Nature communications · 2025Article
- P2 Receptor Antagonists Rescue Defective Heme Content in an In Vitro SLC25A38-Associated Congenital Sideroblastic Anemia Cell Model.International journal of molecular sciences · 2024Article
- Machine learning and single-cell RNA sequencing reveal relationship between intratumor CD8Cancer cell international · 2024Article
- Non-syndromic congenital sideroblastic anaemia; phenotype, and genotype of 15 Indian patients.Annals of hematology · 2024Article
- Article
- A novel and apparentFrontiers in pediatrics · 2024Article
- The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-Review.Children (Basel, Switzerland) · 2023Review
- Hem25p is required for mitochondrial IPP transport in fungi.Nature cell biology · 2023Article
- Iron Metabolism in the Disorders of Heme Biosynthesis.Metabolites · 2022Review
- New Avenues of Heme Synthesis Regulation.International journal of molecular sciences · 2022Review
- Regulation of Heme Synthesis by Mitochondrial Homeostasis Proteins.Frontiers in cell and developmental biology · 2022Review
- Case report: An infant boy with X-linked sideroblastic anaemia successfully treated by umbilical cord blood haematopoietic stem cell transplantation.Frontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
27 authors at 20 institutions in 8 countries.
Funding
Abstract
The congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders of erythropoiesis characterized by pathologic deposits of iron in the mitochondria of developing erythroblasts. Mutations in the mitochondrial glycine carrier SLC25A38 cause the most common recessive form of CSA. Nonetheless, the disease is still rare, there being fewer than 70 reported families. Here we describe the clinical phenotype and genotypes of 31 individuals from 24 families, including 11 novel mutations. We also review the spectrum of reported mutations and genotypes associated with the disease, describe the unique localization of missense mutations in transmembrane domains and account for the presence of several alleles in different populations.
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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.