Evidence map›Paper›PMID 41006421›Full record

ArticleScientific reports2025

Genetic and clinical characteristics of Japanese cystinuria with exon and exon-intron boundary variants.

Shinichi Sakamoto, Yukio Naya, Junryo Rii, Kazumi Taguchi, Masaaki Fujimura, Yasuhiro Shigeta, Arthit Chairoungdua, Motoi Nishimura, Ken Wakai, Yasutaka Yamada and 14 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2025. 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

24 authors.

Shinichi SakamotoDepartment of Urology, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo ku, Chiba, Chiba, 260-8670, Japan. rbatbat1@gmail.com.
Yukio NayaDepartment of Urology, Teikyo University Chiba Medical Center, Ichihara, Japan.
Junryo RiiDepartment of Urology, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo ku, Chiba, Chiba, 260-8670, Japan.
Kazumi TaguchiDepartment of Nephro-Urology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Masaaki FujimuraDepartment of Urology, Saiseikai Narashino Hospital, Narashino, Japan.
Yasuhiro ShigetaNishi Funabashi Urology Clinic, Funabashi, Japan.
Arthit ChairoungduaDepartment of Physiology, Faculty of Science, Mahidol University, Salaya, Thailand.
Motoi NishimuraDivision of Clinical Genetics, Chiba University Hospital, Chiba, Japan.
Ken WakaiDepartment of Urology, Teikyo University Chiba Medical Center, Ichihara, Japan.
Yasutaka YamadaDepartment of Urology, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo ku, Chiba, Chiba, 260-8670, Japan.
Xue ZhaoDepartment of Urology, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo ku, Chiba, Chiba, 260-8670, Japan.
Yusuke ImamuraDepartment of Urology, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo ku, Chiba, Chiba, 260-8670, Japan.
Sawako TajimaClinical Genetics Center, Tokyo Medical University Hospital, Tokyo, Japan.
Natsumi SatoDivision of Clinical Genetics, Chiba University Hospital, Chiba, Japan.
Chiaki HosakaDivision of Clinical Genetics, Chiba University Hospital, Chiba, Japan.
Mizuka SekineDivision of Clinical Genetics, Chiba University Hospital, Chiba, Japan.
Takeshi UedaNagaura Urology Clinic, Sodegaura, Japan.
Shuzo HamamotoDepartment of Nephro-Urology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Takahiro YasuiDepartment of Nephro-Urology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Yoshikatsu KanaiDepartment of Bio-System Pharmacology, Graduate School of Medicine, Osaka University, Suita, Japan.
Koichiro AkakuraDepartment of Urology, Japan Community Healthcare Organization (JCHO) Mishima General Hospital, Shizuoka, Japan.
Yuzuru IkeharaDepartment of Tumor Pathology, Chiba University Graduate School of Medicine, Chiba, Japan.
Naohiko AnzaiDepartment of Pharmacology, Chiba University Graduate School of Medicine, Chiba, Japan.
Tomohiko IchikawaDepartment of Urology, Chiba University Graduate School of Medicine, 1-8-1 Inohana, Chuo ku, Chiba, Chiba, 260-8670, Japan.

Funding

The Japan Agency for Medical Research and Development (AMED) （JP21ek0109549）to T. Ichikawa JP21ek0109549
6 · The paper itself

Abstract

Cystinuria is the most common genetic cause of urinary stones. Defects in SLC3A1/SLC7A9 genes coding cystine transporter proteins rBAT/b

Indexed as

Amino Acid Transport Systems, BasicAmino Acid Transport Systems, NeutralCystinuriaExonsIntronsAdolescentAdultChildChild, PreschoolEast Asian PeopleFemaleGenotypeHigh-Throughput Nucleotide SequencingHumansInfantJapanAmino Acid Transport Systems, BasicAmino Acid Transport Systems, NeutralSLC3A1 protein, humanSLC7A9 protein, humanCystinuriaGenetic variantGermline variantUrinary stone

Identifiers

PMID41006421
PMCPMC12475139

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.