Evidence map›Paper›PMID 31063852›Full record

ArticleDiabetes research and clinical practice2019

GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants.

May Sanyoura, Lisa Letourneau, Amy E Knight Johnson, Daniela Del Gaudio, Siri Atma W Greeley, Louis H Philipson, Rochelle N Naylor

Open access · greenAbstract read
In one paragraph

Article in Diabetes research and clinical practice, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
2.7field-weighted citation impact, top 11% 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

10 citing papers in PubMed, 23 citations in OpenAlex.

  1. Review
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  5. A1C: Episode 1.Clinical diabetes : a publication of the American Diabetes Association · 2024
    Article
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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

7 authors at 1 institution in 1 country.

May SanyouraSection of Adult and Pediatric Endocrinology, Diabetes, and Metabolism, The University of Chicago, 5841 S. Maryland Ave., MC 1027, Chicago, IL 60637, USA. Electronic address: msanyoura@uchicago.edu.
Lisa LetourneauSection of Adult and Pediatric Endocrinology, Diabetes, and Metabolism, The University of Chicago, 5841 S. Maryland Ave., MC 1027, Chicago, IL 60637, USA.
Amy E Knight JohnsonDepartment of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, IL, USA.
Daniela Del GaudioDepartment of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, IL, USA.
Siri Atma W GreeleySection of Adult and Pediatric Endocrinology, Diabetes, and Metabolism, The University of Chicago, 5841 S. Maryland Ave., MC 1027, Chicago, IL 60637, USA.
Louis H PhilipsonSection of Adult and Pediatric Endocrinology, Diabetes, and Metabolism, The University of Chicago, 5841 S. Maryland Ave., MC 1027, Chicago, IL 60637, USA.
Rochelle N NaylorSection of Adult and Pediatric Endocrinology, Diabetes, and Metabolism, The University of Chicago, 5841 S. Maryland Ave., MC 1027, Chicago, IL 60637, USA.
University of Chicago · US

Funding

Pilot and Feasibility ProgramP30DK020595 · NIDDK · UNIVERSITY OF CHICAGO · PI GRAEME I BELL, Raghavendra G Mirmira · 2013 to 2026
$20.9M
Monogenic Diabetes: Next Generation Diagnosis, Treatment and ComplicationsR01DK104942 · NIDDK · UNIVERSITY OF CHICAGO · PI GREELEY, SIRI ATMA W., PHILIPSON, LOUIS H. · 2016 to 2024
$4.7M
Advancing Recognition and Personalized Genetic Medicine for MODY in a Multi-Ethnic US PopulationK23DK114564 · NIDDK · UNIVERSITY OF CHICAGO · PI NAYLOR, ROCHELLE NICOLE · 2017 to 2021
$649k
NIDDK NIH HHS K23 DK114564NIDDK NIH HHS P30 DK020595NIDDK NIH HHS R01 DK104942
6 · The paper itself

Abstract

We report on 134 unique GCK variants in 217 families, including 27 unpublished variants, identified in the US Monogenic Diabetes Registry in the last decade. Using ACMG guidelines, 26% were pathogenic, 56% likely pathogenic and 18% were of uncertain significance. Those with pathogenic variants had clinical features consistent with GCK-MODY.

Indexed as

AdolescentAdultChildDiabetes Mellitus, Type 2FemaleGlucokinaseHumansMaleRegistriesUnited StatesYoung AdultGlucokinaseGlucokinaseMODYMonogenic diabetesNext-generation sequencingPathogenic variants

Identifiers

PMID31063852
PMCPMC6544496
OpenAlexW2944420664

What OpenQuestion holds

Textmetadata
LicenceTDM
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.