In one paragraphArticle in medRxiv : the preprint server for health sciences, 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
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 registryThe 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 literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
5 · Who and what moneyAuthors and funding
17 authors.
Xin ZhenDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Michael J BettiDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0001-8394-6202 Meltem Ece KarsThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0001-5922-5608 Andrew PattersonDivision of Molecular Pathogenesis, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-5177-5055 Edgar Alejandro Medina-TorresImmune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico.
Selma Cecilia Scheffler MendozaClinical Immunology Service, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico.
Diana Andrea Herrera SánchezSpecialty Hospital, National Medical Center XXI Century, Mexico City, Mexico.
Gabriela Lopez-HerreraImmune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico.
Yevgeniya SvyrydDepartment of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.ORCID 0000-0002-9417-3927 Osvaldo M MutchinickDepartment of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.ORCID 0000-0003-4886-0045 Eric GamazonDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0003-4204-8734 Jeffrey C RathmellDivision of Molecular Pathogenesis, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-4106-3396 Yuval ItanThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0003-4966-3238 Janet MarkleDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0003-2189-4368 Patricia O'Farrill RomanillosSpecialty Hospital, National Medical Center XXI Century, Mexico City, Mexico.ORCID 0000-0002-7186-1372 Saul Oswaldo Lugo-ReyesImmune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat, Mexico City, Mexico.ORCID 0000-0002-3730-4150 Ruben Martinez-BarricarteDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0001-7925-449X Funding
The role of SERPINB1 in T cell function and its contribution to human diseasesR01AI168210 · NIAID · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Ruben Martinez Barricarte · 2023 to 2026
$2.6MGain-of-function complement activators as a new class of immunotherapeutic moleculesR01CA269217 · NCI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Ruben Martinez Barricarte · 2023 to 2026
$2.0MGenetic and immunological dissection of isolated NocardiosisR21AI171466 · NIAID · VANDERBILT UNIVERSITY MEDICAL CENTER · PI MARTINEZ BARRICARTE, RUBEN · 2022 to 2023
$476kNCI NIH HHS R01 CA269217NIAID NIH HHS R01 AI168210NIAID NIH HHS R21 AI171466
6 · The paper itselfAbstract
Background: G6PC3 deficiency is a rare genetic disorder that causes syndromic congenital neutropenia. It is driven by the intracellular accumulation of a metabolite named 1,5-anhydroglucitol-6-phosphate (1,5-AG6P) that inhibits glycolysis. Patients display heterogeneous extra-hematological manifestations, contributing to delayed diagnosis. Objective: The Methods: Using whole-genome sequencing data, we conducted haplotype analysis to estimate the age of this allele and traced its ancestral origin. We examined how this mutation affected G6PC3 protein expression and performed extracellular flux assays on patient-derived cells to characterize how this mutation impacts glycolysis. Finally, we compared the clinical presentations of patients with the c.210delC mutation relative to other G6PC3 deficient patients published to date. Results: Based on the length of haplotypes shared amongst ten carriers of the Conclusion: The
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PMID38798393
PMCPMC11118594
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