Evidence map›Paper›PMID 31420322›Full record

ArticleGenetics2019

Role of the Chromosome Architectural Factor SMCHD1 in X-Chromosome Inactivation, Gene Regulation, and Disease in Humans.

Chen-Yu Wang, Harrison Brand, Natalie D Shaw, Michael E Talkowski, Jeannie T Lee

Open access · bronzeAbstract read
In one paragraph

Article in Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 38% 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

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. 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

5 authors at 3 institutions in 1 country.

Chen-Yu WangDepartment of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts 02114.ORCID 0000-0002-3912-5113
Harrison BrandDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114.
Natalie D ShawDepartment of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114.
Michael E TalkowskiDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114.
Jeannie T LeeDepartment of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts 02114 lee@molbio.mgh.harvard.edu.ORCID 0000-0001-7786-8850
Massachusetts General Hospital · USCenter for Human Genetics · USHarvard University · US

Funding

RAPID GENE DISCOVERYP01GM061354 · NIGMS · BRIGHAM AND WOMEN'S HOSPITAL · PI TALKOWSKI, MICHAEL E · 2001 to 2019
$24.3M
Investigation of the genetic architecture and phenotypic spectrum of Bosma arhinia microphthalmia syndromeZIAES103327 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI SHAW, NATALIE · 2017 to 2025
$15.5M
Polycomb complexes targeted to specific loci by non-coding RNA co-factorsR01GM090278 · NIGMS · MASSACHUSETTS GENERAL HOSPITAL · PI LEE, JEANNIE T · 2010 to 2017
$3.7M
Spreading of Xist RNA and Polycomb complexes along the inactive X-chromosome.R01HD097665 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI LEE, JEANNIE T · 2019 to 2023
$3.5M
Integrative Genomic Applications to Understand the Etiology of Unsolved Craniofacial AnomaliesK99DE026824 · NIDCR · MASSACHUSETTS GENERAL HOSPITAL · PI BRAND, HARRISON · 2017 to 2018
$324k
Howard Hughes Medical InstituteNICHD NIH HHS R01 HD097665NIDCR NIH HHS K99 DE026824NIGMS NIH HHS P01 GM061354NIGMS NIH HHS R01 GM090278
6 · The paper itself

Abstract

Structural maintenance of chromosomes flexible hinge domain-containing 1 (SMCHD1) is an architectural factor critical for X-chromosome inactivation (XCI) and the repression of select autosomal gene clusters. In mice, homozygous nonsense mutations in

Indexed as

AnimalsCadherinsChoanal AtresiaChromosomal Proteins, Non-HistoneCodon, NonsenseFemaleGenes, LethalHumansMiceMicrophthalmosMuscular Dystrophy, FacioscapulohumeralNoseProtocadherinsTranscriptomeX Chromosome InactivationCadherinsChromosomal Proteins, Non-HistoneCodon, NonsensePCDH1 protein, humanPcdh1 protein, mouseProtocadherinsSMCHD1 protein, humanchromatinclustered protocadherin genesepigeneticsHOX genesSMCHD1X-chromosome inactivation

Identifiers

PMID31420322
PMCPMC6781896
OpenAlexW2967009164

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.