Evidence map›Paper›PMID 32908504›Full record

ArticleInternational journal of endocrinology2020

A Novel Homozygous Mutation of Thyroid Peroxidase Gene Abolishes a Disulfide Bond Leading to Congenital Hypothyroidism.

Fumiyoshi Yakou, Hirotsugu Suwanai, Takuya Ishikawa, Mariko Itou, Jumpei Shikuma, Takashi Miwa, Hiroyuki Sakai, Kohsuke Kanekura, Satoshi Narumi, Ryo Suzuki and 1 more

Open access · goldAbstract read
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Article in International journal of endocrinology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.3field-weighted citation impact, top 40% 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

0 citing papers in PubMed, 4 citations in OpenAlex.

No citing paper in PubMed yet.

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

11 authors at 2 institutions in 1 country.

Fumiyoshi YakouTokyo Medical University, Department of Diabetes, Metabolism and Endocrinology, Tokyo 160-0023, Japan.
Hirotsugu SuwanaiTokyo Medical University, Department of Diabetes, Metabolism and Endocrinology, Tokyo 160-0023, Japan.ORCID https://orcid.org/0000-0001-9102-630X
Takuya IshikawaTokyo Medical University, Department of Diabetes, Metabolism and Endocrinology, Tokyo 160-0023, Japan.
Mariko ItouTokyo Medical University, Department of Diabetes, Metabolism and Endocrinology, Tokyo 160-0023, Japan.
Jumpei ShikumaTokyo Medical University, Department of Diabetes, Metabolism and Endocrinology, Tokyo 160-0023, Japan.
Takashi MiwaTokyo Medical University, Department of Diabetes, Metabolism and Endocrinology, Tokyo 160-0023, Japan.
Hiroyuki SakaiTokyo Medical University, Department of Diabetes, Metabolism and Endocrinology, Tokyo 160-0023, Japan.
Kohsuke KanekuraTokyo Medical University, Department of Molecular Pathology, Tokyo 160-8402, Japan.
Satoshi NarumiDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo 157-8535, Japan.
Ryo SuzukiTokyo Medical University, Department of Diabetes, Metabolism and Endocrinology, Tokyo 160-0023, Japan.
Masato OdawaraTokyo Medical University, Department of Diabetes, Metabolism and Endocrinology, Tokyo 160-0023, Japan.
Tokyo Medical University · JPNational Center For Child Health and Development · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital hypothyroidism (CH) is the most prevalent congenital endocrine disorder and causes mental retardation. A male Japanese patient with first cousin marriage parents was diagnosed as CH at 10 months. He was born before introduction of mass screening for CH. With continuous thyroid hormone replacement therapy, normal thyroid hormone status was maintained until adulthood. Genetic screening of next-generation sequencing was performed at the age of 52 years, and we identified a new homozygous thyroid peroxidase (TPO) gene mutation (GRCh38.p13, chromosome 2 at position 1493997, c.1964 G>T, p.Cys655Phe). TPO is an important enzyme to produce thyroid hormone. As demonstrated by a homology analysis of TPO proteins among different species, cysteine 655 residue is highly conserved, suggesting an important role in maintaining TPO function and structure. An

Identifiers

PMID32908504
PMCPMC7477596
OpenAlexW3082711232

What OpenQuestion holds

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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.