Evidence map›Paper›PMID 21734401›Full record

ArticleHuman heredity2011

Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.

Ghazanfar Ali, Kwanghyuk Lee, Paula B Andrade, Sulman Basit, Regie Lyn P Santos-Cortez, Leon Chen, Musharraf Jelani, Muhammad Ansar, Wasim Ahmad, Suzanne M Leal

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

Article in Human heredity, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.1field-weighted citation impact, top 53% 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

2 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Genetic Hearing Loss and Gene Therapy.Genomics & informatics · 2018
    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 2 institutions in 2 countries.

Ghazanfar AliDepartment of Biochemistry, Quaid-I-Azam University, Islamabad, Pakistan.
Kwanghyuk Lee
Paula B Andrade
Sulman Basit
Regie Lyn P Santos-Cortez
Leon Chen
Musharraf Jelani
Muhammad Ansar
Wasim Ahmad
Suzanne M Leal
Baylor College of Medicine · USQuaid-i-Azam University · PK

Funding

Identification of Nonsyndromic Hearing Impairment GenesR01DC003594 · NIDCD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SUZANNE M LEAL · 2004 to 2026
$7.7M
GENOTYPING FOR LOCATING HUMAN DISEASE GENESN01HG065403 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID L · 1996 to 2000
$1.7M
ISOLATION OF NON SYNDROMIC HEARING LOSS GENESR29DC003594 · NIDCD · ROCKEFELLER UNIVERSITY · PI LEAL, SUZANNE MARGARET · 1998 to 2002
$345k
NHGRI NIH HHS N01 HG065403NIDCD NIH HHS R01 DC003594NIDCD NIH HHS R29 DC003594
6 · The paper itself

Abstract

A novel locus DFNB90 was mapped to 7p22.1-p15.3 by carrying out a genome scan in a multigenerational consanguineous family from Pakistan with autosomal recessive nonsyndromic hearing impairment (ARNSHI).DFNB90 is the eighth ARNSHI locus mapped to chromosome 7. A multipoint LOD score of 4.0 was obtained at a number of SNP marker loci spanning from rs1468996 (chromosome 7: 5.7 Mb) tors957960 (chromosome 7: 18.8 Mb). The 3-unit support interval and the region of homozygosity for DFNB90 spans from markers rs1553960 (chromosome 7: 4.9 Mb) to rs206198 (chromosome 7: 20.3 Mb). Candidate genes ACTB, BZW, OCM, MACC1, NXPH1, PRPS1L1, RAC1 and RPA3, which lie within the DFNB90 region, were sequenced and no potentially causal variants were identified.

Indexed as

Genes, RecessiveActinsCalcium-Binding ProteinsCell Cycle ProteinsChromosome MappingChromosomes, Human, Pair 7ConsanguinityDNA-Binding ProteinsFemaleGenetic LociGenetic Predisposition to DiseaseGenotypeGlycoproteinsHaplotypesHearing LossHumansActinsBZW1 protein, humanCalcium-Binding ProteinsCell Cycle ProteinsDNA-Binding ProteinsGlycoproteinsMACC1 protein, humanneurexophilinNeuropeptidesoncomodulinPRPS1 protein, humanrac1 GTP-Binding ProteinRAC1 protein, humanRibose-Phosphate PyrophosphokinaseRPA3 protein, humanTrans-ActivatorsTranscription Factors

Identifiers

PMID21734401
PMCPMC3136383
OpenAlexW2048435323

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.