Evidence map›Paper›PMID 35671065›Full record

ArticleCirculation. Genomic and precision medicine2022

Wnt Signaling Interactor WTIP (Wilms Tumor Interacting Protein) Underlies Novel Mechanism for Cardiac Hypertrophy.

Hannah N De Jong, Frederick E Dewey, Pablo Cordero, Rachelle A Victorio, Anna Kirillova, Yong Huang, Roshni Madhvani, Kinya Seo, Andreas A Werdich, Feng Lan and 19 more

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

Article in Circulation. Genomic and precision medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.6field-weighted citation impact, top 29% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. 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

29 authors at 5 institutions in 1 country.

Hannah N De Jong *Department of Genetics (H.N.D., R.C., M.S., E.A.A.), Stanford University, CA.ORCID 0000-0002-8699-9702
Frederick E Dewey *Department of Medicine (F.E.D., A.K., Y.H., R.M., K.S., F.L., M.O., W.R.L., A.E., M.T.W., S.P., Y.M.K., K.B., F.H., J.C.W., V.d.J.P., V.N.P., E.A.A.), Stanford University, CA.
Pablo CorderoBiomedical Informatics (P.C.), Stanford University, CA.
Rachelle A VictorioBrigham and Women's Hospital, Harvard University, Boston, MA (R.A.V., A.A.W., C.M.).ORCID 0000-0002-1222-1180
Anna KirillovaDepartment of Medicine (F.E.D., A.K., Y.H., R.M., K.S., F.L., M.O., W.R.L., A.E., M.T.W., S.P., Y.M.K., K.B., F.H., J.C.W., V.d.J.P., V.N.P., E.A.A.), Stanford University, CA.
Yong HuangDepartment of Medicine (F.E.D., A.K., Y.H., R.M., K.S., F.L., M.O., W.R.L., A.E., M.T.W., S.P., Y.M.K., K.B., F.H., J.C.W., V.d.J.P., V.N.P., E.A.A.), Stanford University, CA.
Roshni MadhvaniDepartment of Medicine (F.E.D., A.K., Y.H., R.M., K.S., F.L., M.O., W.R.L., A.E., M.T.W., S.P., Y.M.K., K.B., F.H., J.C.W., V.d.J.P., V.N.P., E.A.A.), Stanford University, CA.ORCID 0000-0002-6876-5419
Kinya SeoDepartment of Medicine (F.E.D., A.K., Y.H., R.M., K.S., F.L., M.O., W.R.L., A.E., M.T.W., S.P., Y.M.K., K.B., F.H., J.C.W., V.d.J.P., V.N.P., E.A.A.), Stanford University, CA.ORCID 0000-0003-0004-7370
Andreas A WerdichBrigham and Women's Hospital, Harvard University, Boston, MA (R.A.V., A.A.W., C.M.).ORCID 0000-0002-1222-1180
Feng LanDepartment of Medicine (F.E.D., A.K., Y.H., R.M., K.S., F.L., M.O., W.R.L., A.E., M.T.W., S.P., Y.M.K., K.B., F.H., J.C.W., V.d.J.P., V.N.P., E.A.A.), Stanford University, CA.ORCID 0000-0002-9038-4014
Mark OrcholskiDepartment of Medicine (F.E.D., A.K., Y.H., R.M., K.S., F.L., M.O., W.R.L., A.E., M.T.W., S.P., Y.M.K., K.B., F.H., J.C.W., V.d.J.P., V.N.P., E.A.A.), Stanford University, CA.ORCID 0000-0003-3740-6664
W Robert LiuDepartment of Medicine (F.E.D., A.K., Y.H., R.M., K.S., F.L., M.O., W.R.L., A.E., M.T.W., S.P., Y.M.K., K.B., F.H., J.C.W., V.d.J.P., V.N.P., E.A.A.), Stanford University, CA.
Ayca ErbilginDepartment of Medicine (F.E.D., A.K., Y.H., R.M., K.S., F.L., M.O., W.R.L., A.E., M.T.W., S.P., Y.M.K., K.B., F.H., J.C.W., V.d.J.P., V.N.P., E.A.A.), Stanford University, CA.
Matthew T WheelerDepartment of Medicine (F.E.D., A.K., Y.H., R.M., K.S., F.L., M.O., W.R.L., A.E., M.T.W., S.P., Y.M.K., K.B., F.H., J.C.W., V.d.J.P., V.N.P., E.A.A.), Stanford University, CA.ORCID 0000-0001-8721-3022
Rui ChenDepartment of Genetics (H.N.D., R.C., M.S., E.A.A.), Stanford University, CA.ORCID 0000-0001-7789-0978
Stephen PanDepartment of Medicine (F.E.D., A.K., Y.H., R.M., K.S., F.L., M.O., W.R.L., A.E., M.T.W., S.P., Y.M.K., K.B., F.H., J.C.W., V.d.J.P., V.N.P., E.A.A.), Stanford University, CA.
Young M KimDepartment of Medicine (F.E.D., A.K., Y.H., R.M., K.S., F.L., M.O., W.R.L., A.E., M.T.W., S.P., Y.M.K., K.B., F.H., J.C.W., V.d.J.P., V.N.P., E.A.A.), Stanford University, CA.
Krishna BommakantiDepartment of Medicine (F.E.D., A.K., Y.H., R.M., K.S., F.L., M.O., W.R.L., A.E., M.T.W., S.P., Y.M.K., K.B., F.H., J.C.W., V.d.J.P., V.N.P., E.A.A.), Stanford University, CA.
Cherisse A MarcouMayo Clinic, Rochester, MN (C.A.M., J.M.B., M.A.).ORCID 0000-0002-9722-7492
J Martijn BosMayo Clinic, Rochester, MN (C.A.M., J.M.B., M.A.).ORCID 0000-0002-3635-2003
Francois HaddadDepartment of Medicine (F.E.D., A.K., Y.H., R.M., K.S., F.L., M.O., W.R.L., A.E., M.T.W., S.P., Y.M.K., K.B., F.H., J.C.W., V.d.J.P., V.N.P., E.A.A.), Stanford University, CA.
Michael AckermanMayo Clinic, Rochester, MN (C.A.M., J.M.B., M.A.).ORCID 0000-0002-8011-3333
Ramachandran S VasanBoston University School of Medicine, MA (R.S.V.).ORCID 0000-0001-7357-5970
Calum MacRaeBrigham and Women's Hospital, Harvard University, Boston, MA (R.A.V., A.A.W., C.M.).ORCID 0000-0001-5181-2664
Joseph C WuDepartment of Medicine (F.E.D., A.K., Y.H., R.M., K.S., F.L., M.O., W.R.L., A.E., M.T.W., S.P., Y.M.K., K.B., F.H., J.C.W., V.d.J.P., V.N.P., E.A.A.), Stanford University, CA.ORCID 0000-0002-6068-8041
Vinicio de Jesus PerezDepartment of Medicine (F.E.D., A.K., Y.H., R.M., K.S., F.L., M.O., W.R.L., A.E., M.T.W., S.P., Y.M.K., K.B., F.H., J.C.W., V.d.J.P., V.N.P., E.A.A.), Stanford University, CA.ORCID 0000-0001-5532-8247
Michael SnyderDepartment of Genetics (H.N.D., R.C., M.S., E.A.A.), Stanford University, CA.ORCID 0000-0003-0784-7987
Victoria N Parikh *Department of Medicine (F.E.D., A.K., Y.H., R.M., K.S., F.L., M.O., W.R.L., A.E., M.T.W., S.P., Y.M.K., K.B., F.H., J.C.W., V.d.J.P., V.N.P., E.A.A.), Stanford University, CA.ORCID 0000-0002-5138-5559
Euan A Ashley *Department of Genetics (H.N.D., R.C., M.S., E.A.A.), Stanford University, CA.ORCID 0000-0001-9418-9577
MACOM (United States) · USStanford University · USBrigham and Women's Hospital · USMayo Clinic · USBoston University · US

Funding

What comes next? Engaging stakeholders in governance of participant data and relationships during the sunset of large genomic medicine research initiativesU01HG010218 · NHGRI · STANFORD UNIVERSITY · PI ASHLEY, EUAN A, BERNSTEIN, JONATHAN ADAM · 2018 to 2022
$6.3M
The Wnt7a/ROR2 axis in the pathogenesis of pulmonary arterial hypertensionR01HL134776 · NHLBI · STANFORD UNIVERSITY · PI DE JESUS PEREZ, VINICIO A · 2017 to 2025
$5.0M
Endothelial-pericyte interactions in the pathogenesis of pulmonary arterial hypertensionR01HL139664 · NHLBI · STANFORD UNIVERSITY · PI DE JESUS PEREZ, VINICIO A · 2018 to 2025
$4.7M
Structure function relationships from deep mutational scanning in human cardiomyopathyR01HL144843 · NHLBI · STANFORD UNIVERSITY · PI ASHLEY, EUAN A · 2020 to 2023
$2.8M
Genome-wide Association Study of Cardiac Structure and FunctionR01HL093328 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI RAMACHANDRAN, VASAN S · 2008 to 2011
$2.4M
The Role of RBM20 Sequence and Expression in Dilated CardiomyopathiesK08HL143185 · NHLBI · STANFORD UNIVERSITY · PI PARIKH, VICTORIA · 2019 to 2023
$725k
NHGRI NIH HHS U01 HG010218NHLBI NIH HHS K08 HL143185NHLBI NIH HHS R01 HL093328NHLBI NIH HHS R01 HL134776NHLBI NIH HHS R01 HL139664NHLBI NIH HHS R01 HL144843
6 · The paper itself

Abstract

backgroundThe study of hypertrophic cardiomyopathy (HCM) can yield insight into the mechanisms underlying the complex trait of cardiac hypertrophy. To date, most genetic variants associated with HCM have been found in sarcomeric genes. Here, we describe a novel HCM-associated variant in the noncanonical Wnt signaling interactor

methodsIn a family affected by HCM, we used exome sequencing and identity-by-descent analysis to identify a novel variant in WTIP (p.Y233F). We knocked down WTIP in isolated neonatal rat ventricular myocytes with lentivirally delivered short hairpin ribonucleic acids and in

resultsWTIP knockdown caused hypertrophy in neonatal rat ventricular myocytes and increased cardiac hypertrophy, peak calcium, and resting calcium in

conclusionsWe demonstrate that a novel genetic variant found in a family with HCM disrupts binding to a known Wnt signaling protein, misregulating cardiomyocyte calcium dynamics. Further, in orthogonal model systems, we show that expression of the gene

Indexed as

AnimalsCalciumCardiomegalyCardiomyopathy, HypertrophicCo-Repressor ProteinsCytoskeletal ProteinsHumansHypertrophy, Left VentricularRatsVerapamilCalciumCo-Repressor ProteinsCytoskeletal ProteinsVerapamilWTIP protein, humancalciumcardiomyopathy, hypertrophichumansinduced pluripotent stem cellsmyocytes, cardiaczebra fish

Identifiers

PMID35671065
PMCPMC10445530
OpenAlexW4281756931

What OpenQuestion holds

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Registered trials

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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.