Evidence mapPaperPMID 37761828Full record

ArticleGenes2023

3' UTR Deletion of

Xin Bi, Maureen S Mulhern, Erica Spiegel, Ronald J Wapner, Brynn Levy, Jennifer M Bain, Jun Liao

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
field-weighted citation impact, top 80% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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

7 authors at 1 institution in 1 country.

Xin BiDepartment of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY 10032, USA.
Maureen S MulhernDepartment of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY 10032, USA.
Erica SpiegelDepartment of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY 10032, USA.
Ronald J WapnerDepartment of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY 10032, USA.
Brynn LevyDepartment of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY 10032, USA.
Jennifer M BainDepartment of Neurology, Columbia University Irving Medical Center, New York, NY 10032, USA.ORCID 0000-0002-6642-8902
Jun LiaoDepartment of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY 10032, USA.ORCID 0000-0002-9806-2722
Columbia University Irving Medical Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Constitutional deletions of chromosome 1q42 region are rare. The phenotype spectrum associated with this copy number change is variable, including developmental delay, intellectual disability, seizures, and dysmorphology. This study describes a patient with developmental delays and brain abnormalities. G-banded karyotype, FISH, SNP oligonucleotide microarray analysis (SOMA), and whole exome sequencing analysis were performed. Postnatal reanalysis of prenatal SOMA and follow-up parental testing revealed a paternally inherited 63 kb deletion at 1q42.11 in the patient. We characterized the clinical features of this patient, providing insight into the clinical phenotype associated with deletions of the 1q42.11 sub-band. Our study provides new evidence supporting the potential functional importance of the

Indexed as

Brain DiseasesIntellectual DisabilityNervous System Malformations3' Untranslated RegionsBrainFemaleHumansOligonucleotidesPregnancySeizuresSKP Cullin F-Box Protein Ligases3' Untranslated RegionsFBXO28 protein, humanOligonucleotidesSKP Cullin F-Box Protein Ligases3′ UTR deletionbrain abnormalitieschromosome 1q42.11 regiondevelopmental delayFBXO28

Identifiers

PMID37761828
PMCPMC10530825
OpenAlexW4386168438

What Socratic 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 Socratic graph.