Evidence map›Paper›PMID 36793390›Full record

ArticleFrontiers in genetics2022

Spectrum of germline and somatic mitochondrial DNA variants in Tuberous Sclerosis Complex.

Krinio Giannikou, Katie R Martin, Ahmad G Abdel-Azim, Kaila J Pamir, Thomas R Hougard, Shefali Bagwe, Yan Tang, Jeffrey P MacKeigan, David J Kwiatkowski, Elizabeth P Henske and 1 more

Registry-linked trialOpen access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05676099 (TSC Alliance Tuberous Sclerosis Complex), which is not on this map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.1field-weighted citation impact, top 25% 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.

NCT05676099 recruitingnot on this map

TSC Alliance Tuberous Sclerosis Complex (TSC) Biosample Repository and Natural History Database

Typeobservational_patient_registrySponsorNational Tuberous Sclerosis AssociationRan2016 to 2050Enrolled5,000ConditionsTuberous Sclerosis, LymphangioleiomyomatosisArmsPhlebotomy, Buccal (cheek) swab, Genetic Testing, Tissue donation after routine clinical procedure
3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
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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

11 authors at 2 institutions in 1 country.

Krinio GiannikouCancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.
Katie R MartinPediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, United States.
Ahmad G Abdel-AzimCancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.
Kaila J PamirCenter for LAM Research and Clinical Care, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.
Thomas R HougardCenter for LAM Research and Clinical Care, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.
Shefali BagweCenter for LAM Research and Clinical Care, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.
Yan TangCenter for LAM Research and Clinical Care, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.
Jeffrey P MacKeiganPediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, United States.
David J KwiatkowskiCancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.
Elizabeth P HenskeCenter for LAM Research and Clinical Care, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.
Hilaire C LamCenter for LAM Research and Clinical Care, Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States.
Brigham and Women's Hospital · USMichigan State University · US

Funding

HARVARD CLINICAL AND TRANSLATIONAL SCIENCE CENTER (UL1)UL1RR025758 · NCRR · HARVARD MEDICAL SCHOOL · PI NADLER, LEE MARSHALL · 2008 to 2011
$91.4M
Impact of mitochondrial dynamics on the development of renal cysts in Tuberous Sclerosis Complex (TSC)K01DK116819 · NIDDK · BRIGHAM AND WOMEN'S HOSPITAL · PI LAM, HILAIRE COLLETTA · 2018 to 2021
$679k
NCRR NIH HHS UL1 RR025758NIDDK NIH HHS K01 DK116819
6 · The paper itself

Abstract

Tuberous Sclerosis Complex (TSC) is caused by loss of function variants in either

Indexed as

angiomyolipomabuccal swablymphangioleiomyomatosismTORC1renal cell carcinoma

Identifiers

PMID36793390
PMCPMC9923026
OpenAlexW4318473646

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.