Evidence map›Paper›PMID 30914273›Full record

ArticleBone2019

Phenotype and response to growth hormone therapy in siblings with B4GALT7 deficiency.

Carla Sandler-Wilson, Jennifer A Wambach, Bess A Marshall, Daniel J Wegner, William McAlister, F Sessions Cole, Marwan Shinawi

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Bone, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.4field-weighted citation impact, top 17% 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

8 citing papers in PubMed, 10 citations in OpenAlex.

  1. Article
  2. Article
  3. MutantFrontiers in genetics · 2022
    Article
  4. Article
  5. Article
  6. Bone Disease in Patients with Ehlers-Danlos Syndromes.Current osteoporosis reports · 2020
    Review
  7. Article
  8. Review
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

7 authors at 1 institution in 1 country.

Carla Sandler-WilsonEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA.
Jennifer A WambachEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA. Electronic address: wambachj@wustl.edu.
Bess A MarshallEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA.
Daniel J WegnerEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA.
William McAlisterMallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA.
F Sessions ColeEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA.
Marwan ShinawiEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA.
St. Louis Children's Hospital · US

Funding

Genetic Basis of Inflammatory Airway DiseaseK12HL089968 · NHLBI · WASHINGTON UNIVERSITY · PI COLE, FRANCIS SESSIONS · 2007 to 2012
$1.6M
Lipidomic Screening For Functional Surfactant Gene MutationsR33HL120760 · NHLBI · WASHINGTON UNIVERSITY · PI COLE, FRANCIS SESSIONS · 2016 to 2018
$1.4M
Omics of Inflammatory Airway DiseasesK12HL120002 · NHLBI · WASHINGTON UNIVERSITY · PI COHEN, BARAK A, COLE, FRANCIS SESSIONS · 2013 to 2017
$1.3M
Lipidomic Screening For Functional Surfactant Gene MutationsR21HL120760 · NHLBI · WASHINGTON UNIVERSITY · PI COLE, FRANCIS SESSIONS · 2014 to 2015
$441k
SURFACTANT PATHWAY GENE VARIANTS AMONG INFANTS WITH RESPIRATORY DISTRESS SYNDROMEK08HL105891 · NHLBI · WASHINGTON UNIVERSITY · PI WAMBACH, JENNIFER · 2011 to 2013
$377k
NHLBI NIH HHS K08 HL105891NHLBI NIH HHS K12 HL089968NHLBI NIH HHS K12 HL120002NHLBI NIH HHS R21 HL120760NHLBI NIH HHS R33 HL120760
6 · The paper itself

Abstract

B4GALT7 encodes beta-1,4-galactosyltransferase which links glycosaminoglycans to proteoglycans in connective tissues. Rare, biallelic variants in B4GALT7 have been associated with spondylodysplastic Ehlers-Danlos and Larsen of Reunion Island syndromes. Thirty patients with B4GALT7-related disorders have been reported to date with phenotypic variability. Using whole exome sequencing, we identified male and female siblings with biallelic, pathogenic B4GALT7 variants and phenotypic features of spondylodysplastic Ehlers-Danlos syndrome as well as previously unreported skeletal characteristics. We also provide detailed radiological characterization and describe the siblings' responses to growth hormone treatment. Our report extends the phenotypic spectrum of B4GALT7-associated spondylodysplastic Ehlers-Danlos syndrome and reports results of growth hormone treatment for patients with this rare disorder.

Indexed as

SiblingsAdultBiomarkersChildChild, PreschoolExome SequencingFemaleGalactosyltransferasesGrowth HormoneHumansMalePhenotypeBiomarkersGalactosyltransferasesGrowth Hormonexylosylprotein 4-beta-galactosyltransferaseB4GALT7Growth hormoneLarsen of Reunion Island syndromeProteoglycanSpondylodysplastic Ehlers-Danlos syndrome

Identifiers

PMID30914273
PMCPMC6551519
OpenAlexW2934140710

What OpenQuestion holds

Textmetadata
LicenceTDM
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.