Evidence map›Paper›PMID 26309814›Full record

ArticleMolecular genetics and metabolism reports2015

Gestational Diabetes Associated with a Novel Mutation (378-379insTT) in the Glycerol Kinase Gene.

Yao H Zhang, Johan L Van Hove, Edward R B McCabe, Katrina M Dipple

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 99% 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

1 citing paper in PubMed, 6 citations in OpenAlex.

  1. Article
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

4 authors at 3 institutions in 2 countries.

Yao H ZhangDepartment of Pediatrics, David Geffen School of Medicine at UCLA, and Mattel Children's Hospital UCLA, Los Angeles, CA, USA 90095-1752.
Johan L Van HoveDepartment of Pediatrics, Catholic University Leuven, Leuven, B3000, Belgium.
Edward R B McCabeDepartment of Pediatrics, David Geffen School of Medicine at UCLA, and Mattel Children's Hospital UCLA, Los Angeles, CA, USA 90095-1752 ; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA 90095-7088 ; InterDepartmental Program, Biomedical Engineering, Henry Samulei School of Engineering and Applied Sciences at UCLA, Los Angeles, CA, USA 90095.
Katrina M DippleDepartment of Pediatrics, David Geffen School of Medicine at UCLA, and Mattel Children's Hospital UCLA, Los Angeles, CA, USA 90095-1752 ; Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA 90095-7088 ; InterDepartmental Program, Biomedical Engineering, Henry Samulei School of Engineering and Applied Sciences at UCLA, Los Angeles, CA, USA 90095.
Mattel Children's Hospital · USKU Leuven · BEUniversity of California, Los Angeles · US

Funding

MOLECULAR GENETIC STUDIES OF GLYCEROL KINASE DEFICIENCYR01HD022563 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI MCCABE, EDWARD R · 1987 to 2003
$1.1M
Glycerol Kinase Deficiency to Study Metabolic DiseasesR01GM067929 · NIGMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DIPPLE, KATRINA M · 2003 to 2005
$873k
Molecular Mechanisms of Glycerol Kinase DeficiencyK08DK060055 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DIPPLE, KATRINA M · 2001 to 2005
$605k
NICHD NIH HHS R01 HD022563NIDDK NIH HHS K08 DK060055NIGMS NIH HHS R01 GM067929
6 · The paper itself

Abstract

Glycerol kinase deficiency (GKD) is an X-linked inborn error of metabolism at the interface of fat and carbohydrate metabolism. We report a male patient with GKD and a novel insertion of TT in exon 5 at position 378 of the GK cDNA (378-379insTT). This resulted in a premature stop codon and 0.8% normal GK activity. The mother is a carrier for this mutation and had gestational diabetes requiring insulin during this pregnancy but not in her previous pregnancy. Given the association between GKD and type 2 diabetes mellitus, it is interesting that the mother had gestational diabetes while carrying an affected fetus. Therefore, GKD is another disease where there may be a maternal-fetal interaction based on genotype. Further investigations may help elucidate the role of GKD in the carrier mother's gestational diabetes. In addition, these studies will provide better-informed counseling to families with GKD regarding the risk to carrier females.

Indexed as

fat metabolismgestational diabetesGlycerol kinase deficiencyinsulin resistancematernal-fetal interactionstype 2 diabetes mellitus

Identifiers

PMID26309814
PMCPMC4545508
OpenAlexW804148053

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.