Evidence map›Paper›PMID 39041036›Full record

ArticleResearch square2024

Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.

Xin Zhen, Michael Betti, Meltem Ece Kars, Andrew Patterson, Edgar Alejandro Medina-Torres, Selma Cecilia Scheffler Mendoza, Diana Andrea Herrera Sánchez, Gabriela Lopez-Herrera, Yevgeniya Svyryd, Osvaldo Mutchinick and 7 more

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In one paragraph

Article in Research square, 2024. 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

5 · Who and what money

Authors and funding

17 authors.

Xin ZhenDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center.
Michael BettiDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center.
Meltem Ece KarsThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai.
Andrew PattersonDivision of Molecular Pathogenesis, Department of Medicine, Vanderbilt University Medical Center.
Edgar Alejandro Medina-TorresImmune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat.
Selma Cecilia Scheffler MendozaClinical Immunology Service, National Institute of Pediatrics, Health Secretariat.
Diana Andrea Herrera SánchezSpecialty Hospital, National Medical Center XXI Century.
Gabriela Lopez-HerreraImmune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat.
Yevgeniya SvyrydDepartment of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán.
Osvaldo MutchinickDepartment of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán.
Eric GamazonDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center.
Jeffrey RathmellDivision of Molecular Pathogenesis, Department of Medicine, Vanderbilt University Medical Center.
Yuval ItanThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai.
Janet MarkleDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center.
Patricia O'Farrill RomanillosSpecialty Hospital, National Medical Center XXI Century.
Saul Oswaldo Lugo-ReyesImmune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat.
Ruben Martinez-BarricarteDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center.

Funding

The role of SERPINB1 in T cell function and its contribution to human diseasesR01AI168210 · VANDERBILT UNIVERSITY MEDICAL CENTER · 2025 to 2025
$646k
Gain-of-function complement activators as a new class of immunotherapeutic moleculesR01CA269217 · VANDERBILT UNIVERSITY MEDICAL CENTER · 2025 to 2025
$495k
NCI NIH HHS R01 CA269217NIAID NIH HHS R01 AI168210NIAID NIH HHS R21 AI171466
6 · The paper itself

Abstract

G6PC3 deficiency is a monogenic immunometabolic disorder that causes syndromic congenital neutropenia. Patients display heterogeneous extra-hematological manifestations, contributing to delayed diagnosis. Here, we investigated the origin and functional consequence of the

Indexed as

founder effectG6PC3 deficiencyInborn errors of immunitymetabolic dysfunctionprimary immunodeficiencysevere congenital neutropenia

Identifiers

PMID39041036
PMCPMC11261954

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.