Evidence map›Paper›PMID 34630515›Full record

ArticleFrontiers in genetics2021

Assessment of Mosaicism and Detection of Cryptic Alleles in CRISPR/Cas9-Engineered Neurofibromatosis Type 1 and

Clifford Dustin Rubinstein, Dalton T McLean, Brent P Lehman, Jennifer J Meudt, Dominic T Schomberg, Kathy J Krentz, Jamie L Reichert, Mark B Meyer, Marie Adams, Charles M Konsitzke and 1 more

Open access · goldAbstract read
In one paragraph

Article in Frontiers in genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
0.5field-weighted citation impact, top 38% 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

9 citing papers in PubMed, 8 citations in OpenAlex.

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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 1 institution in 1 country.

Clifford Dustin RubinsteinBiotechnology Center, University of Wisconsin-Madison, Madison, WI, United States.
Dalton T McLeanBiotechnology Center, University of Wisconsin-Madison, Madison, WI, United States.
Brent P LehmanBiotechnology Center, University of Wisconsin-Madison, Madison, WI, United States.
Jennifer J MeudtBiomedical and Genomic Research Group, Department of Animal and Dairy Sciences, University of Wisconsin-Madison, Madison, WI, United States.
Dominic T SchombergBiomedical and Genomic Research Group, Department of Animal and Dairy Sciences, University of Wisconsin-Madison, Madison, WI, United States.
Kathy J KrentzBiotechnology Center, University of Wisconsin-Madison, Madison, WI, United States.
Jamie L ReichertSwine Research and Teaching Center, Department of Animal and Dairy Sciences, University of Wisconsin-Madison, Madison, WI, United States.
Mark B MeyerDepartment of Biochemistry, University of Wisconsin-Madison, Madison, WI, United States.
Marie AdamsBiotechnology Center, University of Wisconsin-Madison, Madison, WI, United States.
Charles M KonsitzkeBiotechnology Center, University of Wisconsin-Madison, Madison, WI, United States.
Dhanansayan ShanmuganayagamBiomedical and Genomic Research Group, Department of Animal and Dairy Sciences, University of Wisconsin-Madison, Madison, WI, United States.
University of Wisconsin–Madison · US

Funding

UW COMPREHENSIVE CANCER CENTER SUPPORTP30CA014520 · NCI · UNIVERSITY OF WISCONSIN-MADISON · PI Christian Capitini · 1985 to 2026
$142.6M
Molecular & Environmental Toxicology Pre-& Postdoctoral Training ProgramT32ES007015 · NIEHS · UNIVERSITY OF WISCONSIN-MADISON · PI CHRISTOPHER A BRADFIELD · 1985 to 2026
$11.5M
NCI NIH HHS P30 CA014520NIEHS NIH HHS T32 ES007015
6 · The paper itself

Abstract

Genome editing in pigs has been made efficient, practical, and economically viable by the CRISPR/Cas9 platform, representing a promising new era in translational modeling of human disease for research and preclinical development of therapies and devices. Porcine embryo microinjection provides a universally available, efficient option over somatic-cell nuclear transfer, but requires that critical considerations be made in genotypic validation of the models that routinely go unaddressed. Accurate validation of genotypes is especially important when modeling genetic disorders, such as neurofibromatosis type 1 (NF1) that exhibits complex genotype-phenotypic relationships. NF1, an autosomal dominant disorder, is particularly hard to model as it manifests very differently across patients, and even within families, with over 3,000 disease-associated mutations of the neurofibromin 1 (

Indexed as

copy number variationCRISPRcryptic allelegenetic engineeringmicroinjectionmosaicismneurofibromatosis type 1swine

Identifiers

PMID34630515
PMCPMC8495252
OpenAlexW3199489119

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.