New Mutation Associated with Polycystic Kidney Disease Type I: A Case Report.

Vanya Rai, Manisha Singh, Joseph H Holthoff

Abstract readCase Reports

In one paragraph

Article in Genes, 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.

A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.BMC medical genomics · 2025
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

3 authors.

Vanya RaiMayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.ORCID 0009-0007-4319-7236

Manisha SinghDepartment of Nephrology, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA.ORCID 0000-0002-6014-1337

Joseph H HolthoffDepartment of Nephrology, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA.ORCID 0000-0002-7098-7811

Funding

The Role o f Tetrahydrobiopterin (BH4) Bioavailability in Radiation-induced Skin InjuryP20GM109005 · NIGMS · UNIV OF ARKANSAS FOR MED SCIS · PI BOERMA, MARJAN · 2015 to 2024

$21.1M

NIGMS NIH HHS P20 GM109005

6 · The paper itself

Abstract

introductionAutosomal dominant polycystic kidney disease (ADPKD) is one of the most prevalent heritable disorders, characterized by the progressive development of kidney cysts leading to renal failure. It is primarily caused by mutations in the CASE PRESENTATION: The index case, a 56-year-old female with chronic kidney disease stage 3b secondary to ADPKD and hypertension, exhibited a strong family history of polycystic kidney disease (PKD). Initial genetic evaluations did not identify any recognized pathogenic mutations, leading to a more detailed investigation which revealed a novel mutation in the

conclusionsThe identification of a heterozygous six-nucleotide deletion, c.2084_2089del, resulting in the in-frame deletion of two amino acids, p.Pro695_Ala696del, in the

Indexed as

Polycystic Kidney, Autosomal DominantTRPP Cation ChannelsFemaleHumansMaleMiddle AgedMutationPedigreeTRPP Cation Channelsautosomal dominant polycystic kidney diseasecase reportCKDCongenital Anomalies of the Kidney and Urinary TractGenetic MutationPKD1

Identifiers

PMID39457385

DOI10.3390/genes15101262

PMCPMC11507877

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