Evidence map›Paper›PMID 33964207›Full record

ArticleAmerican journal of human genetics2021

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.

Bobby G Ng, Paulina Sosicka, François Fenaille, Annie Harroche, Sandrine Vuillaumier-Barrot, Mindy Porterfield, Zhi-Jie Xia, Shannon Wagner, Michael J Bamshad, Marie-Christine Vergnes-Boiteux and 23 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
1.1field-weighted citation impact, top 23% 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

15 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Moyamoya Vasculopathy with Atypical Cogan's Syndrome: A Case Report.Archives of clinical and medical case reports · 2026
    Article
  4. Review
  5. Review
  6. Article
  7. Article
  8. Review
  9. The metabolic basis of inherited neutropenias.British journal of haematology · 2024
    Review
  10. Hemostatic defects in congenital disorders of glycosylation.Research and practice in thrombosis and haemostasis · 2023
    Article
  11. The landscape of CRISPR/Cas9 for inborn errors of metabolism.Molecular genetics and metabolism · 2023
    Review
  12. CDG or not CDG.Journal of inherited metabolic disease · 2022
    Article
  13. Article
  14. Article
  15. Review
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

33 authors at 16 institutions in 3 countries.

Bobby G NgHuman Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.
Paulina SosickaHuman Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.
François FenailleUniversité Paris-Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé, MetaboHUB, 91191 Gif sur Yvette, France.
Annie HarrocheHôpital Necker, Haemophilia Care Centre, 75015 Paris, France.
Sandrine Vuillaumier-BarrotAP-HP, Hôpital Bichat-Claude Bernard, Biochimie Métabolique et Cellulaire, 75018 Paris, France; INSERM U1149, Université de Paris, 75018 Paris, France.
Mindy PorterfieldComplex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA.
Zhi-Jie XiaHuman Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.
Shannon WagnerComplex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA.
Michael J BamshadDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Marie-Christine Vergnes-BoiteuxLaboratoire d'Hématologie, CHU de Bordeaux, 33604 Pessac, France.
Sophie CholetUniversité Paris-Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé, MetaboHUB, 91191 Gif sur Yvette, France.
Stephen DaltonCenter for Molecular Medicine, University of Georgia, Athens, GA 30602, USA; Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA.
Anne DellDepartment of Life Sciences, Imperial College London, SW7 2AZ London, UK.
Thierry DupréAP-HP, Hôpital Bichat-Claude Bernard, Biochimie Métabolique et Cellulaire, 75018 Paris, France.
Mathieu FioreLaboratoire d'Hématologie, CHU de Bordeaux, 33604 Pessac, France; Centre de Référence des Pathologies Plaquettaires Constitutionnelles, CHU de Bordeaux, 33604 Pessac, France.
Stuart M HaslamDepartment of Life Sciences, Imperial College London, SW7 2AZ London, UK.
Yohann HugueninCentre de Ressources et de Compétence des Maladies Hémorragiques Constitutionnelles, CHU de Bordeaux, 33076 Bordeaux, France.
Tadahiro KumagaiComplex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA.
Michael KulikCenter for Molecular Medicine, University of Georgia, Athens, GA 30602, USA; Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA.
Katherine McGooganMedical Director of Hepatology Nemours Children's Specialty Care, Jacksonville, FL 32207, USA.
Caroline MichotDepartment of Clinical Genetics and Reference Centre for Constitutional Bone Diseases, INSERM U1163, Université de Paris, Imagine Institute, Necker-Enfants Malades Hospital, AP-HP, 75015, Paris, France.
Deborah A NickersonDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Tiffany PascreauLaboratoire d'Hématologie Biologique, AP-HP, Hôpital Necker Enfants Malades, 75015 Paris, France.
Delphine BorgelLaboratoire d'Hématologie Biologique, AP-HP, Hôpital Necker Enfants Malades, 75015 Paris, France; HITh, UMR_S 1176, INSERM, Université Paris-Saclay, 94270 Le Kremlin-Bicêtre, France.
Kimiyo RaymondBiochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
Deepti WaradDivision of Pediatric Hematology Oncology, Mayo Clinic, Rochester, MN 55905, USA.
University of Washington Center for Mendelian Genomics (UW-CMG)
Heather Flanagan-SteetJC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA.
Richard SteetJC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA.
Michael TiemeyerComplex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA.
Nathalie SetaAP-HP, Hôpital Bichat-Claude Bernard, Biochimie Métabolique et Cellulaire, 75018 Paris, France.
Arnaud BruneelAP-HP, Hôpital Bichat-Claude Bernard, Biochimie Métabolique et Cellulaire, 75018 Paris, France; INSERM UMR1193, Université Paris-Saclay, 92290 Châtenay-Malabry, France.
Hudson H FreezeHuman Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA. Electronic address: hudson@sbpdiscovery.org.
University of Georgia · USDiscovery Institute · USCentre Hospitalier Universitaire de Bordeaux · FRAssistance Publique – Hôpitaux de Paris · FRGreenwood Genetic Center · USImperial College London · GBUniversité Paris Cité · FRUniversity of Washington · USCEA Paris-Saclay · FRHôpital Bichat-Claude-Bernard · FRHôpital Necker-Enfants Malades · FRMayo Clinic · USMayo Clinic in Arizona · USTechnologies pour la Santé · FRUniversité Claude Bernard Lyon 1 · FRUniversité Paris-Saclay · FR

Funding

Tumor Microenvironment and Cancer ImmunologyP30CA030199 · NCI · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI ELENA B PASQUALE · 1985 to 2026
$107.2M
New Congenital Disorders of Glycosylation: Therapy and ModelsR01DK099551 · NIDDK · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI Hudson H. Freeze · 2014 to 2026
$6.7M
NCI NIH HHS P30 CA030199NIDDK NIH HHS R01 DK099551
6 · The paper itself

Abstract

SLC37A4 encodes an endoplasmic reticulum (ER)-localized multitransmembrane protein required for transporting glucose-6-phosphate (Glc-6P) into the ER. Once transported into the ER, Glc-6P is subsequently hydrolyzed by tissue-specific phosphatases to glucose and inorganic phosphate during times of glucose depletion. Pathogenic variants in SLC37A4 cause an established recessive disorder known as glycogen storage disorder 1b characterized by liver and kidney dysfunction with neutropenia. We report seven individuals who presented with liver dysfunction multifactorial coagulation deficiency and cardiac issues and were heterozygous for the same variant, c.1267C>T (p.Arg423

Indexed as

MutationAdultAntiportersChildChild, PreschoolCongenital Disorders of GlycosylationEndoplasmic ReticulumFemaleFibroblastsGenes, DominantGlycosylationHumansInfantInfant, NewbornLiver DiseasesMaleAntiportersMonosaccharide Transport ProteinsSLC37A4 protein, humancoagulopathycongenital disordes of glycosylationexome sequencingglycosylationGolgi pH

Identifiers

PMID33964207
PMCPMC8206404
OpenAlexW3157702688

What OpenQuestion holds

Textmetadata
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.