Evidence map›Paper›PMID 39119445›Full record

ArticleMolecular syndromology2024

Delineating the Disease Boundaries: Homozygous

Zamrud Zehri, Hammal Khan, Sohail Ahmed, Muhammad Javed Khan, Nisar Ahmed Shahwani, Shoaib Nawaz, Muhammad Umair

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

7 authors.

Zamrud ZehriDepartment of Gynecology and Obstetrics, Civil Hospital Quetta, Quetta, Pakistan.
Hammal KhanDepartment of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan.
Sohail AhmedInstitute of Biochemistry, University of Balochistan, Quetta, Pakistan.
Muhammad Javed KhanInstitute of Biochemistry, University of Balochistan, Quetta, Pakistan.
Nisar Ahmed ShahwaniDepartment of Pharmaceutical Chemistry, Faculty of Pharmacy, University of Balochistan, Quetta, Pakistan.
Shoaib NawazDepartment of Human Genetics, Sidra Medicine, Doha, Qatar.
Muhammad UmairDepartment of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Hereditary hearing loss is a genetically heterogeneous neurosensory disorder that affects many people. Deafness and infertility can coexist in some cases, creating the hearing impairment infertile male syndrome. There are several known molecular mechanisms that can cause deafness either on its own or in conjunction with infertility. Methods and Results: Here, we represent two consanguineous families (A, B), both families had clinical evidence of deafness, and family B also had infertility, so we referred to them as having nonsyndromic hearing loss (NSHL) and hearing impairment infertile male syndrome (HIIMS), respectively. These families' genetic makeup was examined using an Affymetrix GeneChip 250K Nsp array followed by Sanger sequencing. In family A, we identified a novel homozygous stop gain variant [NM_003672.4; c.1000C>T; p.(Gln334*)] and a homozygous missense variant [NM_003672.4; c.684C>A; p.(Asn228Lys)] in family B in Conclusions: Our study on the

Indexed as

CDC14A geneHearing impairment infertile male syndromeNovel variantProfound deafnessSNP array

Identifiers

PMID39119445
PMCPMC11305659

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.