Evidence map›Paper›PMID 31506927›Full record

ReviewClinical genetics2020

Growth factor and receptor malfunctions associated with human genetic deafness.

Sadaf Naz, Thomas B Friedman

Open access · greenAbstract readReview
In one paragraph

Review in Clinical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.6field-weighted citation impact, top 37% 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

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Comparison of MicroRNA Levels of 18-60-month-old Autistic Children with Those of Their Siblings and Controls.Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2024
    Article
  3. Review
  4. Article
  5. 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

2 authors at 2 institutions in 2 countries.

Sadaf NazSchool of Biological Sciences, University of the Punjab, Lahore, Pakistan.ORCID 0000-0002-1912-0235
Thomas B FriedmanLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.ORCID 0000-0003-4614-6630
National Institutes of Health · USUniversity of the Punjab · PK

Funding

Identification of Genes Causing Syndromic And Nonsyndromic Hearing ImpairmentZ01DC000039 · NIDCD · NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS · PI FRIEDMAN, THOMAS BAER · 1997 to 2008
$7.2M
SPEECH AND HEARING SCIENCEST32DC000039 · NIDCD · CUNY GRADUATE SCH AND UNIV CTR · PI SCHWARTZ, RICHARD G · 1992 to 2002
$429k
Intramural NIH HHS Z01 DC000039NIDCD NIH HHS T32 DC000039
6 · The paper itself

Abstract

A variety of different signaling pathways are necessary for development and maintenance of the human auditory system. Normal hearing allows for the detection of soft sounds within the frequency range of 20 to 20 000 Hz, but more importantly to perceive the human voice frequency band of 250 to 6000 Hz. Loss of hearing is common, and is a clinically heterogeneous disorder that can be caused by environmental factors such as exposure to loud noise, infections and ototoxic drugs. In addition, variants of hundreds of genes have been reported to disrupt processes required for hearing. Noncoding regulatory variants and variants of additional genes necessary for hearing remain to be discovered as many individuals with inherited deafness are without a genetic diagnosis, despite the advent of whole exome sequencing. Here, we discuss in detail some of these deafness-causing variants of genes encoding a ligand or its receptor. Spotlighted in this review are three growth factor-receptor-pairs EDN3/EDNRB, HGF/MET and JAG/NOTCH, which individually are necessary for normal hearing. We also offer our perspective on unanswered questions, future challenges and potential opportunities for treatments emerging from molecular genetic and mechanistic studies of deafness due to these causes.

Indexed as

DeafnessEndothelin-3HearingHearing Loss, SensorineuralHepatocyte Growth FactorHumansJagged-1 ProteinProto-Oncogene Proteins c-metReceptor, Endothelin BReceptors, NotchEDN3 protein, humanEDNRB protein, humanEndothelin-3Hepatocyte Growth FactorHGF protein, humanJAG1 protein, humanJagged-1 ProteinMET protein, humanProto-Oncogene Proteins c-metReceptor, Endothelin BReceptors, NotchEDN3EDNRBhearingHGFinner ear defectsJAGMETNOTCH

Identifiers

PMID31506927
PMCPMC8232520
OpenAlexW2972830940

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.