Evidence map›Paper›PMID 15024629›Full record

ArticleJournal of human genetics2004

A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease.

Mary E LaMarca, Mona Goldstein, Nahid Tayebi, Mauricio Arcos-Burgos, Brian M Martin, Ellen Sidransky

Open access · bronzeAbstract readComparative Study
PubMed Publisher
In one paragraph

Article in Journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
0.2field-weighted citation impact, top 44% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. 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

6 authors at 2 institutions in 1 country.

Mary E LaMarcaMedical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, 20892-4405, USA.
Mona GoldsteinMedical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, 20892-4405, USA.
Nahid TayebiMedical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, 20892-4405, USA.
Mauricio Arcos-BurgosMedical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, 20892-4405, USA.
Brian M MartinLaboratory of Neurotoxicology, National Institute of Mental Health, Bethesda, MD, 20892-4405, USA.
Ellen SidranskyMedical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, 20892-4405, USA. sidranse@irp.nimh.nih.gov.
National Human Genome Research Institute · USNational Institute of Mental Health · US

Funding

Neuropsychiatric Disorders--protein Structure/activity StudiesZIAMH002344 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI MARTIN, BRIAN M · 2009 to 2014
$835k
NEUROPSYCHIATRIC DISORDERS--PROTEIN STRUCTURE/ACTIVITY STUDIESZ01MH002344 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI MARTIN, BRIAN M · 1986 to 2008
$469k
6 · The paper itself

Abstract

The gene for glucocerebrosidase ( GBA), the enzyme deficient in Gaucher disease, is located in a gene-rich region on 1q21. Metaxin 1( MTX1) is a convergently transcribed gene contiguous to the 3' end of the GBA pseudogene. A single nucleotide alteration in MTX1, 628T-->C, resulting in the amino acid change F202L, was identified in patients with Gaucher disease in association with the common N370S mutation in GBA. The polymorphism was also present on 4.6% of 152 control alleles, but could have functional consequences that have a modifying role in Gaucher disease.

Indexed as

Case-Control StudiesChromosomes, Human, Pair 1DNADNA Mutational AnalysisDNA PrimersEthnicityGaucher DiseaseHumansMitochondrial Membrane Transport ProteinsPolymerase Chain ReactionPolymorphism, Single NucleotideProteinsDNADNA PrimersMitochondrial Membrane Transport ProteinsMTX1 protein, humanProteins

Identifiers

PMID15024629
OpenAlexW2130077698

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.