Evidence map›Paper›PMID 36833208›Full record

ArticleGenes2023

Altered Nucleotide Insertion Mechanisms of Disease-Associated TERT Variants.

Griffin A Welfer, Veniamin A Borin, Luis M Cortez, Patricia L Opresko, Pratul K Agarwal, Bret D Freudenthal

Open access · goldAbstract read
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. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.4field-weighted citation impact, top 42% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. 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

6 authors at 3 institutions in 1 country.

Griffin A WelferDepartment of Biochemistry and Molecular Biology, University of Kansas Medical Center, Kansas City, KS 66103, USA.ORCID 0000-0003-2295-3817
Veniamin A BorinDepartment of Physiological Sciences and High-Performance Computing Center, Oklahoma State University, Stillwater, OK 74077, USA.
Luis M CortezUniversity of Kansas Cancer Center, Kansas City, KS 66103, USA.ORCID 0000-0002-4225-3810
Patricia L OpreskoDepartment of Environmental and Occupational Health, University of Pittsburgh Graduate School of Public Health, and UPMC Hillman Cancer Center, Pittsburgh, PA 15232, USA.ORCID 0000-0002-6470-2189
Pratul K AgarwalDepartment of Physiological Sciences and High-Performance Computing Center, Oklahoma State University, Stillwater, OK 74077, USA.
Bret D FreudenthalDepartment of Biochemistry and Molecular Biology, University of Kansas Medical Center, Kansas City, KS 66103, USA.ORCID 0000-0003-1449-4710
The University of Kansas Cancer Center · USOklahoma State University · USUPMC Hillman Cancer Center · US

Funding

Supplement to Promote DiversityR35ES030396 · NIEHS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Patricia L Opresko · 2019 to 2026
$7.5M
Supplement to NIH Award 2 R35GM128562-06R35GM128562 · NIGMS · UNIVERSITY OF KANSAS MEDICAL CENTER · PI Bret D Freudenthal · 2018 to 2026
$4.2M
Conformational sub-states in enzyme catalysis: Applications to ribonucleaseR01GM105978 · NIGMS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI AGARWAL, PRATUL K, DOUCET, NICOLAS · 2014 to 2018
$2.8M
Determining the effects of ribonucleotides on telomere integrityF31GM146446 · NIGMS · UNIVERSITY OF KANSAS MEDICAL CENTER · PI WELFER, GRIFFIN ALAN · 2022 to 2023
$71k
NIEHS NIH HHS R35 ES030396NIGMS NIH HHS F31 GM146446NIGMS NIH HHS R01 GM105978NIGMS NIH HHS R35 GM128562
6 · The paper itself

Abstract

Telomere biology disorders (TBDs) are a spectrum of diseases that arise from mutations in genes responsible for maintaining telomere integrity. Human telomerase reverse transcriptase (hTERT) adds nucleotides to chromosome ends and is frequently mutated in individuals with TBDs. Previous studies have provided insight into how relative changes in hTERT activity can lead to pathological outcomes. However, the underlying mechanisms describing how disease-associated variants alter the physicochemical steps of nucleotide insertion remain poorly understood. To address this, we applied single-turnover kinetics and computer simulations to the

Indexed as

TelomeraseDNAHumansMutationNucleotidesTelomereDNANucleotidesTelomeraseTERT protein, humancancerenzyme mechanismstelomerasetelomere biology disorderstelomeres

Identifiers

PMID36833208
PMCPMC9957172
OpenAlexW4317929925

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.