Evidence map›Paper›PMID 27834868›Full record

ArticleGenes2016

Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.

Kyungsoo Ha, Priya Anand, Jennifer A Lee, Julie R Jones, Chong Ae Kim, Debora Romeo Bertola, Jonathan D J Labonne, Lawrence C Layman, Wolfgang Wenzel, Hyung-Goo Kim

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.6field-weighted citation impact, top 21% 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

7 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Diagnostics (Basel, Switzerland) · 2022
    Article
  6. Article
  7. 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

10 authors at 4 institutions in 5 countries.

Kyungsoo HaSection of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics and Gynecology, Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, 1120 15th Street, Augusta, GA 30912, USA. kyungsooha1@gmail.com.
Priya AnandInstitute of Nanotechnology (INT), Karlsruhe Institute of Technology (KIT), 76344 Karlsruhe, Germany. priya.anand@kit.edu.
Jennifer A LeeMolecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA. jalee@ggc.org.
Julie R JonesMolecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA. juliejones@ggc.org.
Chong Ae KimUnit of Clinical Genetics, Instituto da Criança, FMUSP, São Paulo 05403-000, Brazil. chong.kim@hc.fm.usp.br.
Debora Romeo BertolaUnit of Clinical Genetics, Instituto da Criança, FMUSP, São Paulo 05403-000, Brazil. debora.bertola@hc.fm.usp.br.
Jonathan D J LabonneSection of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics and Gynecology, Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, 1120 15th Street, Augusta, GA 30912, USA. molgenetics_and_epigenetics@hotmail.com.
Lawrence C LaymanSection of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics and Gynecology, Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, 1120 15th Street, Augusta, GA 30912, USA. lalayman@augusta.edu.
Wolfgang WenzelInstitute of Nanotechnology (INT), Karlsruhe Institute of Technology (KIT), 76344 Karlsruhe, Germany. wolfgang.wenzel@kit.edu.
Hyung-Goo KimSection of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics and Gynecology, Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, 1120 15th Street, Augusta, GA 30912, USA. hkim@augusta.edu.
Augusta University · USGreenwood Genetic Center · USInstituto do Coração · PTKarlsruhe Institute of Technology · DE

Funding

Molecular Physiology of the Cardiovascular SystemT32HL007676 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI HAMILTON, SUSAN L · 1989 to 2020
$7.9M
NHLBI NIH HHS T32 HL007676
6 · The paper itself

Abstract

Most histone methyltransferases (HMTase) harbor a predicted Su(var)3-9, Enhancer-of-zeste, Trithorax (SET) domain, which transfers a methyl group to a lysine residue in their substrates. Mutations of the SET domains were reported to cause intellectual disability syndromes such as Sotos, Weaver, or Kabuki syndromes. Sotos syndrome is an overgrowth syndrome with intellectual disability caused by haploinsufficiency of the nuclear receptor binding SET domain protein 1 (

Indexed as

histone methyltransferaseintellectual disabilityNSD1SET domainSotos syndrome

Identifiers

PMID27834868
PMCPMC5126782
OpenAlexW2551568093

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.