Evidence map›Paper›PMID 36864026›Full record

ArticleHuman genome variation2023

Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.

Erina Nakahara, Keiko Shimojima Yamamoto, Hiromi Ogura, Takako Aoki, Taiju Utsugisawa, Kenko Azuma, Hiroyuki Akagawa, Kenichiro Watanabe, Michiko Muraoka, Fumihiko Nakamura and 15 more

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

Article in Human genome variation, 2023. 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
0.9field-weighted citation impact, top 28% 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. Open biology · 2025
    Review
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

25 authors at 11 institutions in 1 country.

Erina NakaharaDepartment of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.
Keiko Shimojima YamamotoDepartment of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan. shimojima.keiko@twmu.ac.jp.ORCID http://orcid.org/0000-0003-2362-3844
Hiromi OguraDepartment of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.
Takako AokiDepartment of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.
Taiju UtsugisawaDepartment of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.
Kenko AzumaInstitute for Comprehensive Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.
Hiroyuki AkagawaInstitute for Comprehensive Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.ORCID http://orcid.org/0000-0001-7791-7384
Kenichiro WatanabeDepartment of Hematology and Oncology, Shizuoka Children's Hospital, Shizuoka, Japan.
Michiko MuraokaDepartment of Pediatrics, Fukuyama Medical Center, Okayama, Japan.
Fumihiko NakamuraDepartment of Laboratory Medicine, Nara Prefecture General Medical Center, Nara, Japan.
Michi KameiDepartment of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan.
Koji TatebayashiDepartment of Neonatology, Gifu Prefectural General Medical Center, Gifu, Japan.
Jun ShinozukaDepartment of Pediatrics, Uji-Tokushukai Medical Center, Kyoto, Japan.
Takahisa YamaneDepartment of Hematology, Osaka City General Hospital, Osaka, Japan.
Makoto HibinoDepartment of Respiratory Medicine, Shonan Fujisawa Tokushukai Hospital, Fujisawa, Kanagawa, Japan.
Yoshiya KatsuraDepartment of Metabolism and Endocrinology, Tokyo Medical University Ibaraki Medical Center, Ibaraki, Japan.
Sonoko Nakano-AkamatsuDepartment of Hematology, Omihachiman Community Medical Center, Shiga, Japan.
Norimitsu KadowakiDepartment of Internal Medicine, Division of Hematology, Rheumatology and Respiratory Medicine, Faculty of Medicine, Kagawa University, Kagawa, Japan.
Yoshiro MaruDepartment of Pharmacology, Tokyo Women's Medical University, Tokyo, Japan.
Etsuro ItoDepartment of Pediatrics, Hirosaki University Graduate School of Medicine, Aomori, Japan.
Shouichi OhgaDepartment of Pediatrics, Kyushu University Graduate School of Medical Sciences, Fukuoka, Japan.
Hiroshi YagasakiDepartment of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.ORCID http://orcid.org/0000-0002-7937-5512
Ichiro MoriokaDepartment of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.
Toshiyuki YamamotoInstitute for Comprehensive Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.ORCID http://orcid.org/0000-0002-9484-3505
Hitoshi KannoDepartment of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.ORCID http://orcid.org/0000-0002-0893-4030
Tokyo Women's Medical University · JPNihon University · JPGifu Prefectural General Medical Center · JPHirosaki University · JPKagawa University · JPKyushu University · JPNagoya City University · JPNara Prefecture General Medical CenterOsaka City General Hospital · JPShizuoka Children's Hospital · JPTokyo Medical University Ibaraki Medical Center · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary stomatocytosis (HSt) is a type of congenital hemolytic anemia caused by abnormally increased cation permeability of erythrocyte membranes. Dehydrated HSt (DHSt) is the most common subtype of HSt and is diagnosed based on clinical and laboratory findings related to erythrocytes. PIEZO1 and KCNN4 have been recognized as causative genes, and many related variants have been reported. We analyzed the genomic background of 23 patients from 20 Japanese families suspected of having DHSt using a target capture sequence and identified pathogenic/likely pathogenic variants of PIEZO1 or KCNN4 in 12 families.

Identifiers

PMID36864026
PMCPMC9981561
OpenAlexW4322772235

What OpenQuestion holds

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LicenceCC BY
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.