Evidence map›Paper›PMID 27816064›Full record

ArticleOrphanet journal of rare diseases2016

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Marie Morimoto, Clara Myung, Kimberly Beirnes, Kunho Choi, Yumi Asakura, Arend Bokenkamp, Dominique Bonneau, Milena Brugnara, Joel Charrow, Estelle Colin and 21 more

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

Article in Orphanet journal of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
3.7field-weighted citation impact, top 7% 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

4 citing papers in PubMed, 42 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. 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

31 authors at 20 institutions in 10 countries.

Marie MorimotoDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Clara MyungDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Kimberly BeirnesDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Kunho ChoiDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
Yumi AsakuraDepartment of Endocrinology & Metabolism, Kanagawa Children's Medical Center, Yokohama, Japan.
Arend BokenkampDepartment of Pediatric Nephrology, VU University Medical Center, Amsterdam, The Netherlands.
Dominique BonneauDépartement de Biochimie et Génétique, Centre Hospitalier Universitaire d'Angers, Angers, France.
Milena BrugnaraDepartment of Pediatrics, University of Verona, Verona, Italy.
Joel CharrowDivision of Genetics, Birth Defects and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Estelle ColinDépartement de Biochimie et Génétique, Centre Hospitalier Universitaire d'Angers, Angers, France.
Amira DavisSeattle Children's Hospital, Seattle, WA, USA.
Georges DeschenesDépartement de Pédiatrie, Hôpital Robert Debré, Paris, France.
Mattia GentileDepartment of Medical Genetics, Hospital Di Venere - ASL Bari, Bari, Italy.
Mario GiordanoPediatric Nephrology and Dialysis Unit, Ospedale Pediatrico Giovanni XXIII, Bari, Italy.
Andrew K GormleyDepartment of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Rajeshree GovenderDepartment of Pediatrics and Child Health, Nelson R. Mandela School of Medicine, University of KwaZulu-Natal, Durban, South Africa.
Mark JosephDepartment of Pediatric Nephrology, Phoenix Children's Hospital, Phoenix, AZ, USA.
Kory KellerChild Development and Rehabiliation Center, Oregon Institute on Disability & Development, Oregon Health & Science University, Portland, OR, USA.
Evelyne LerutDepartment of Pathology, University Hospitals Leuven, Leuven, Belgium.
Elena LevtchenkoDepartment of Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium.
Laura MassellaDivision of Nephrology, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
Christy MayfieldWarren Clinic Family Medicine, Tulsa, OK, USA.
Behzad NajafianDepartment of Pathology, University of Washington, Seattle, WA, USA.
David ParhamDepartment of Pathology, Children's Hospital Los Angeles and Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Jurgen SprangerChildren's Hospital, University of Mainz, Mainz, Germany.
Peter StenzelDepartment of Pathology, Oregon Health and Science University, Portland, OR, USA.
Uluc YisDepartment of Pediatrics, Division of Child Neurology, Dokuz Eylül University, School of Medicine, İzmir, Turkey.
Zhongxin YuDepartment of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Jonathan ZonanaChild Development and Rehabiliation Center, Oregon Institute on Disability & Development, Oregon Health & Science University, Portland, OR, USA.
Glenda HendsonDepartment of Anatomic Pathology, Children's and Women's Health Centre of British Columbia, Vancouver, BC, Canada.
Cornelius F BoerkoelDepartment of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. cboerkoel@gmail.com.
Centre Hospitalier Universitaire d'Angers · FRChild and Family Research Institute · CAChildren's & Women's Health Centre of British Columbia · CAKU Leuven · BETechnological Assistance Institute for Intellectual Disability · USUniversity of British Columbia · CAUniversity of Oklahoma Health Sciences Center · USAmsterdam UMC Location Vrije Universiteit Amsterdam · NLBambino Gesù Children's Hospital · ITChildren's Hospital of Los Angeles · USDokuz Eylül University · TRHôpital Robert-Debré · FRJohannes Gutenberg University Mainz · DEKanagawa Children's Medical Center · JPLurie Children's Hospital · USOregon Health & Science University · USOspedale Pediatrico Giovanni XXIII · ITPhoenix Children's Hospital · USSeattle Children's Hospital · USUniversity of Bari Aldo Moro · IT

Funding

LABORATORY OF DEVELOPMENTAL BIOLOGYR24HD000836 · NICHD · UNIVERSITY OF WASHINGTON · PI Ian Amos Glass · 1995 to 2026
$16.9M
CIHRNICHD NIH HHS R24 HD000836
6 · The paper itself

Abstract

backgroundSchimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder caused by biallelic mutations in the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily A-like 1 (SMARCAL1) gene. Changes in gene expression underlie the arteriosclerosis and T-cell immunodeficiency of SIOD; therefore, we hypothesized that SMARCAL1 deficiency causes the focal segmental glomerulosclerosis (FSGS) of SIOD by altering renal gene expression. We tested this hypothesis by gene expression analysis of an SIOD patient kidney and verified these findings through immunofluorescent analysis in additional SIOD patients and a genetic interaction analysis in Drosophila.

resultsWe found increased expression of components and targets of the Wnt and Notch signaling pathways in the SIOD patient kidney, increased levels of unphosphorylated β-catenin and Notch1 intracellular domain in the glomeruli of most SIOD patient kidneys, and genetic interaction between the Drosophila SMARCAL1 homologue Marcal1 and genes of the Wnt and Notch signaling pathways.

conclusionsWe conclude that increased Wnt and Notch activity result from SMARCAL1 deficiency and, as established causes of FSGS, contribute to the renal disease of most SIOD patients. This further clarifies the pathogenesis of SIOD and will hopefully direct potential therapeutic approaches for SIOD patients.

Indexed as

AnimalsArteriosclerosisChildChild, PreschoolDNA HelicasesDrosophila melanogasterFluorescent Antibody Technique, IndirectGlomerulosclerosis, Focal SegmentalHumansImmunologic Deficiency SyndromesKidney DiseasesMaleNephrotic SyndromeOsteochondrodysplasiasPrimary Immunodeficiency DiseasesPulmonary EmbolismDNA HelicasesReceptors, NotchSMARCAL1 protein, humanWnt ProteinsFocal segmental glomerulosclerosisNotch signaling pathwaySchimke immuno-osseous dysplasiaSMARCAL1 proteinWnt signaling pathway

Identifiers

PMID27816064
PMCPMC5097426
OpenAlexW2547879761

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.