Evidence map›Paper›PMID 26834142›Full record

ReviewCold Spring Harbor perspectives in biology2016

Epigenetics and Human Disease.

Huda Y Zoghbi, Arthur L Beaudet

Open access · bronzeAbstract readReview
In one paragraph

Review in Cold Spring Harbor perspectives in biology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 135 papers.

0numbers the graph read from it
0cells of the map it votes in
135citing 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

135 citing papers in PubMed, 355 citations in OpenAlex.

  1. Review
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75 more citing papers are in PubMed but not listed here.

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 2 institutions in 1 country.

Huda Y ZoghbiHoward Hughes Medical Institute, Baylor College of Medicine, and Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, Texas 77030 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030.
Arthur L BeaudetDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030.
Baylor College of Medicine · USHoward Hughes Medical Institute · US

Funding

UNDERSTANDING FXTAS AMONG MALES WITH THE FMR1 PREMUTATIONP30HD024064 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI PAYLOR, RICHARD E · 1988 to 2013
$29.4M
Human neurobehavioral phenotypes associates with the extended PWS/AS domainR01HD037283 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI BEAUDET, ARTHUR L. · 1999 to 2014
$8.4M
MOLECULAR PATHOGENESIS STUDIES OF RETT SYNDROMER01NS057819 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI ZOGHBI, HUDA Y · 2006 to 2025
$7.5M
Pathophysiology of Rett Syndrome /MECP2 MutationsP01HD040301 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI ZOGHBI, HUDA Y · 2001 to 2005
$4.7M
Howard Hughes Medical InstituteNICHD NIH HHS 5 P01 HD040301-05NICHD NIH HHS 5 P01 HD37283NICHD NIH HHS 5 P30 HD024064-17NICHD NIH HHS P01 HD040301NICHD NIH HHS P30 HD024064NICHD NIH HHS R01 HD037283NINDS NIH HHS 5 R01 NS057819-08NINDS NIH HHS R01 NS057819
6 · The paper itself

Abstract

Genetic causes for human disorders are being discovered at an unprecedented pace. A growing subclass of disease-causing mutations involves changes in the epigenome or in the abundance and activity of proteins that regulate chromatin structure. This article focuses on research that has uncovered human diseases that stem from such epigenetic deregulation. Disease may be caused by direct changes in epigenetic marks, such as DNA methylation, commonly found to affect imprinted gene regulation. Also described are disease-causing genetic mutations in epigenetic modifiers that either affect chromatin in trans or have a cis effect in altering chromatin configuration.

Indexed as

Epigenesis, GeneticDiseaseHumans

Identifiers

PMID26834142
PMCPMC4743078
OpenAlexW2095237346

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.