Evidence map›Paper›PMID 30207415›Full record

ReviewGenesis (New York, N.Y. : 2000)2019

Developmental processes regulate craniofacial variation in disease and evolution.

Fjodor Merkuri, Jennifer L Fish

Abstract readReview
In one paragraph

Review in Genesis (New York, N.Y. : 2000), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
0.8field-weighted citation impact, top 27% 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

13 citing papers in PubMed, 18 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

2 authors at 1 institution in 1 country.

Fjodor MerkuriDepartment of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts.
Jennifer L FishDepartment of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts.ORCID 0000-0002-2654-2583
University of Massachusetts Lowell · US

Funding

The role of continuous phenotypic variation in structural defects of the faceR01DE019638 · NIDCR · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Benedikt Hallgrimsson, Ralph S Marcucio · 2010 to 2026
$7.3M
Molecular mechanisms underlying variation in severity of craniofacial diseaseR15DE026611 · NIDCR · UNIVERSITY OF MASSACHUSETTS LOWELL · PI FISH, JENNIFER LESLIE · 2017 to 2020
$823k
NIDCR NIH HHS R15 DE026611NIH HHS R01 DE019638NIH HHS R15 DE026611
6 · The paper itself

Abstract

Variation in development mediates phenotypic differences observed in evolution and disease. Although the mechanisms underlying phenotypic variation are still largely unknown, recent research suggests that variation in developmental processes may play a key role. Developmental processes mediate genotype-phenotype relationships and consequently play an important role regulating phenotypes. In this review, we provide an example of how shared and interacting developmental processes may explain convergence of phenotypes in spliceosomopathies and ribosomopathies. These data also suggest a shared pathway to disease treatment. We then discuss three major mechanisms that contribute to variation in developmental processes: genetic background (gene-gene interactions), gene-environment interactions, and developmental stochasticity. Finally, we comment on evolutionary alterations to developmental processes, and the evolution of disease buffering mechanisms.

Indexed as

Evolution, MolecularGene Expression Regulation, DevelopmentalAnimalsBone DevelopmentCraniofacial DysostosisHumansRibosomesRNA SplicingSkullcraniofacial anomaliesevolution of developmentgenotype-phenotype relationshipsmorphological variationribosomopathiesspliceosomopathies

Identifiers

PMID30207415
PMCPMC6349473
OpenAlexW2891064966

What OpenQuestion holds

Textmetadata
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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.