Evidence map›Paper›PMID 33811546›Full record

ArticleHuman genetics2021

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.

Dong Li, Michael E March, Paola Fortugno, Liza L Cox, Leticia S Matsuoka, Rosanna Monetta, Christoph Seiler, Louise C Pyle, Emma C Bedoukian, María José Sánchez-Soler and 23 more

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

Article in Human genetics, 2021. 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
0.5field-weighted citation impact, top 39% 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, 8 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Effect of Cadherin-11 on the Proliferation, Migration, and ECM Synthesis of Chondrocyte.Journal of tissue engineering and regenerative medicine · 2023
    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

33 authors at 15 institutions in 6 countries.

Dong Li *Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. lid2@email.chop.edu.ORCID http://orcid.org/0000-0002-2265-6727
Michael E March *Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Paola FortugnoLaboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.
Liza L CoxDepartments of Oral and Craniofacial Sciences and Pediatrics, University of Missouri-Kansas City School of Dentistry, Kansas City, MO, 64108, USA.
Leticia S MatsuokaCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Rosanna MonettaLaboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.
Christoph SeilerZebrafish Core Facility, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA, USA.
Louise C PyleIndividualized Medical Genetics Center, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Emma C BedoukianIndividualized Medical Genetics Center, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
María José Sánchez-SolerSección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Murcia, España.
Oana CaluseriuDepartment of Medical Genetics, University of Alberta, Edmonton, AB, T6G 2H7, Canada.
Katheryn GrandDepartment of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Allison TamDivision of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
Alicia R P AycinenaDivision of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
Letizia CamerotaDepartment of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.
Yiran GuoCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Patrick SleimanCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Bert CallewaertCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Candy KumpsCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Annelies DheedeneCenter for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Michael BuckleyNSW Health Pathology Genomics Laboratory, Prince of Wales Hospital, Randwick, NSW, Australia.
Edwin P KirkNSW Health Pathology Genomics Laboratory, Prince of Wales Hospital, Randwick, NSW, Australia.
Anne TurnerCentre for Clinical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia.
Benjamin KamienGenetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.
Chirag PatelGenetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
Meredith WilsonDepartment of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia.
Tony RoscioliNSW Health Pathology Genomics Laboratory, Prince of Wales Hospital, Randwick, NSW, Australia.
John ChristodoulouMurdoch Children's Research Institute, Melbourne, Australia.
Timothy C CoxDepartments of Oral and Craniofacial Sciences and Pediatrics, University of Missouri-Kansas City School of Dentistry, Kansas City, MO, 64108, USA.
Elaine H ZackaiDepartment of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Francesco BrancatiDepartment of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Elizabeth J BhojCenter for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. bhoje@email.chop.edu.
Children's Hospital of Philadelphia · USUniversity of L'Aquila · ITGhent University Hospital · BEPrince of Wales Hospital · AUUniversity of California, San Francisco · USUniversity of Missouri–Kansas City · USCedars-Sinai Medical Center · USChildren's Hospital at Westmead · AUHospital Universitario Virgen de la Arrixaca · ESKing Edward Memorial Hospital · AURoyal Brisbane and Women's Hospital · AUSydney Children's Hospital · AUThe University of Sydney · AUUniversity of Alberta · CAUNSW Sydney · AU

Funding

Institutional Clinical and Translational Science AwardKL2TR001879 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI MEAGHER, EMMA ANNE · 2016 to 2025
$13.7M
MEDICAL GENETICS RESEARCH TRAINING GRANTT32GM008638 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Rebecca Ganetzky · 1997 to 2026
$8.7M
NCATS NIH HHS KL2 TR001879NIGMS NIH HHS T32 GM008638
6 · The paper itself

Abstract

Teebi hypertelorism syndrome (THS; OMIM 145420) is a rare craniofacial disorder characterized by hypertelorism, prominent forehead, short nose with broad or depressed nasal root. Some cases of THS have been attributed to SPECC1L variants. Homozygous variants in CDH11 truncating the transmembrane and intracellular domains have been implicated in Elsahy-Waters syndrome (EWS; OMIM 211380) with hypertelorism. We report THS due to CDH11 heterozygous missense variants on 19 subjects from 9 families. All affected residues in the extracellular region of Cadherin-11 (CHD11) are highly conserved across vertebrate species and classical cadherins. Six of the variants that cluster around the EC2-EC3 and EC3-EC4 linker regions are predicted to affect Ca

Indexed as

Abnormalities, MultipleAmino Acid SequenceCadherinsCell AdhesionCell MovementCraniofacial AbnormalitiesEsophagusFemaleFoot Deformities, CongenitalGenetic VariationHand Deformities, CongenitalHeterozygoteHomozygoteHumansHypertelorismHypospadiasCadherinsosteoblast cadherin

Identifiers

PMID33811546
PMCPMC9245547
OpenAlexW3151499837

What OpenQuestion holds

Textmetadata
LicenceTDM
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.