Evidence map›Paper›PMID 37609196›Full record

ArticlebioRxiv : the preprint server for biology2023

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.

Bruce Nmezi, Guillermo Rodriguez Bey, Talia DeFrancesco Oranburg, Kseniia Dudnyk, Santana M Lardo, Nathan Herdman, Anastasia Jacko, Sandy Rubio, Emanuel Loeza Alcocer, Julia Kofler and 23 more

Open access · greenAbstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 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
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, 2 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

33 authors at 15 institutions in 7 countries.

Guillermo Rodriguez Bey
Talia DeFrancesco Oranburg
Kseniia Dudnyk
Santana M Lardo
Nathan Herdman
Anastasia Jacko
Sandy Rubio
Emanuel Loeza Alcocer
Julia Kofler
Dongkyeong Kim
Julia Rankin
Emma Kivuva
Nicholas Gutowski
Katherine Schon
Jelle van den AmeeleORCID 0000-0002-2744-0810
Patrick F Chinnery
Sérgio B Sousa
Filipe Palavra
Camilo Toro
Filippo Pinto E Vairo
Jonas Saute
Lisa Pan
Murad Alturkustani
Robert Hammond
Francois Gros-Louis
Michael Gold
Yungki Park
Geneviève Bernard
Raili Raininko
Jian Zhou
University of Pittsburgh · USRoyal Devon and Exeter Hospital · GBUniversity of Cambridge · GBHospitais da Universidade de Coimbra · PTThe University of Texas Southwestern Medical Center · USAlbert Einstein College of Medicine · USKing Abdulaziz University · SAMayo Clinic · USMcGill University Health Centre · CANational Institutes of Health · USUniversidade Federal do Rio Grande do Sul · BRUniversité Laval · CAUniversity at Buffalo, State University of New York · USUppsala University · SEWestern University · CA

Funding

Chromatin-mediated mechanisms of transcription regulation in ES cellsR35GM133732 · NIGMS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Sarah Jane Hainer · 2019 to 2026
$3.5M
Elucidating Regulatory Mechanisms of Lamin B1 Expression in Autosomal Dominant LeukodystrophyR01NS126193 · NINDS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Quasar S Padiath · 2023 to 2026
$1.7M
Studying the role of the nuclear lamina in age dependent demyelinationR21AG046897 · NIA · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI PADIATH, QUASAR S · 2013 to 2014
$434k
Medical Research Council MR/S035699/1NIA NIH HHS R21 AG046897NIGMS NIH HHS R35 GM133732NINDS NIH HHS R01 NS126193
6 · The paper itself

Abstract

The role of non-coding regulatory elements and how they might contribute to tissue type specificity of disease phenotypes is poorly understood. Autosomal Dominant Leukodystrophy (ADLD) is a fatal, adult-onset, neurological disorder that is characterized by extensive CNS demyelination. Most cases of ADLD are caused by tandem genomic duplications involving the lamin B1 gene (

Identifiers

PMID37609196
PMCPMC10441294
OpenAlexW4385622824

What OpenQuestion holds

Textmetadata
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.