Evidence map›Paper›PMID 12677001›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2003

Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle.

Despina Sanoudou, Judith N Haslett, Alvin T Kho, Shaoqiang Guo, Hanna T Gazda, Steven A Greenberg, Hart G W Lidov, Isaac S Kohane, Louis M Kunkel, Alan H Beggs

Registry-linked trialOpen access · greenAbstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00272883 (Molecular Analysis of Neuromuscular Disease), which is not on this map. Cited by 34 papers.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed
2.4field-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.

NCT00272883 recruitingnot on this map

Molecular Analysis of Neuromuscular Disease

TypeobservationalSponsorBoston Children's HospitalRan2003 to 2050Enrolled4,000ConditionsCentral Core Disease, Centronuclear Myopathy, Congenital Fiber Type Disproportion, Multiminicore Disease
3 · Its place in the literature

Who cites it

34 citing papers in PubMed, 76 citations in OpenAlex.

  1. A Comparative Study of Gene Co-Expression Thresholding Algorithms.Journal of computational biology : a journal of computational molecular cell biology · 2024
    Article
  2. Case report: A novelFrontiers in neurology · 2024
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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

10 authors at 3 institutions in 1 country.

Despina SanoudouDivision of Genetics, Children's Hospital, and Harvard Medical School, Boston, MA 02115, USA.
Judith N Haslett
Alvin T Kho
Shaoqiang Guo
Hanna T Gazda
Steven A Greenberg
Hart G W Lidov
Isaac S Kohane
Louis M Kunkel
Alan H Beggs
Harvard University · USDana-Farber Cancer Institute · USBrigham and Women's Hospital · US

Funding

Progenitor Cells inHuman Skeletal MuscleP01NS040828 · NINDS · CHILDREN'S HOSPITAL BOSTON · PI KUNKEL, LOUIS M · 2001 to 2007
$8.6M
SARCOMERIC PROTEINS IN NORMAL AND DISEASED MUSCLER01AR044345 · NIAMS · CHILDREN'S HOSPITAL BOSTON · PI BEGGS, ALAN H. · 1997 to 2017
$5.3M
NIAMS NIH HHS R01 AR044345NIAMS NIH HHS R01 AR44345NINDS NIH HHS P01 NS040828NINDS NIH HHS P01 NS40828
6 · The paper itself

Abstract

The nemaline myopathies (NMs) are a clinically and genetically heterogeneous group of disorders characterized by nemaline rods and skeletal muscle weakness. Mutations in five sarcomeric thin filament genes have been identified. However, the molecular consequences of these mutations are unknown. Using Affymetrix oligonucleotide microarrays, we have analyzed the expression patterns of >21,000 genes and expressed sequence tags in skeletal muscles of 12 NM patients and 21 controls. Multiple complementary approaches were used for data analysis, including geometric fold analysis, two-tailed unequal variance t test, hierarchical clustering, relevance network, and nearest-neighbor analysis. We report the identification of high satellite cell populations in NM and the significant down-regulation of transcripts for key enzymes of glucose and glycogen metabolism as well as a possible regulator of fatty acid metabolism, UCP3. Interestingly, transcript level changes of multiple genes suggest possible changes in Ca(2+) homeostasis. The increased expression of multiple structural proteins was consistent with increased fibrosis. This comprehensive study of downstream molecular consequences of NM gene mutations provides insights in the cellular events leading to the NM phenotype.

Indexed as

AdultCalcium SignalingCase-Control StudiesCell CountCell CycleEnergy MetabolismExpressed Sequence TagsGene Expression ProfilingGlycolysisHumansInfant, NewbornModels, BiologicalMuscle, SkeletalMyopathies, NemalineOligonucleotide Array Sequence AnalysisPhenotype

Identifiers

PMID12677001
PMCPMC153613
OpenAlexW2072184218

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

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.