Evidence map›Paper›PMID 29491316›Full record

ArticleInternal medicine (Tokyo, Japan)2018

A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5).

Tomoko Kato, Daisuke Tanaka, Seiji Muro, Byambatseren Jambaljav, Eisaku Mori, Shin Yonemitsu, Shogo Oki, Nobuya Inagaki

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PubMed Full text at PMC Publisher
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.2field-weighted citation impact, top 22% 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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. International journal of molecular sciences · 2024
    Review
  2. Maturity-onset diabetes of the young type 3 complicated with type 5: A case report and literature review.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2024
    Review
  3. Review
  4. Maturity Onset Diabetes of the Young-New Approaches for Disease Modelling.International journal of molecular sciences · 2021
    Review
  5. 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

8 authors at 2 institutions in 1 country.

Tomoko KatoDepartment of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Japan.
Daisuke TanakaDepartment of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Japan.
Seiji MuroDepartment of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan.
Byambatseren JambaljavDepartment of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Japan.
Eisaku MoriDepartment of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan.
Shin YonemitsuDepartment of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan.
Shogo OkiDepartment of Diabetes and Endocrinology, Osaka Red Cross Hospital, Japan.
Nobuya InagakiDepartment of Diabetes, Endocrinology and Nutrition, Graduate School of Medicine, Kyoto University, Japan.
Osaka Red Cross Hospital · JPKyoto University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of early onset diabetes. The hepatocyte nuclear factor-1-beta (HNF1B) gene is responsible for MODY type 5 (MODY5) with distinctive clinical features, including pancreatic atrophy and renal disease. We herein report a Japanese case of young-onset diabetes with typical phenotypes of MODY5 and a novel heterozygous missense mutation (p.L145Q) in the HNF1B gene. The mutation was located in the Pit-Oct-Unc (POU)-specific domain, and the amino acid residue L145 was highly conserved among species. It is strongly suggested that this mutation explains the phenotypes of MODY5.

Indexed as

Central Nervous System DiseasesChildDental EnamelDiabetes Mellitus, Type 2Hepatocyte Nuclear Factor 1-betaHumansKidney Diseases, CysticMaleMutationMutation, MissensePhenotypeHepatocyte Nuclear Factor 1-betaHNF1B protein, humanHNF1BMODY5pancreatic atrophyrenal cysts

Identifiers

PMID29491316
PMCPMC6096008
OpenAlexW2791928634

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.