Evidence map›Paper›PMID 29676214›Full record

ArticleThyroid : official journal of the American Thyroid Association2018

Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests.

Mizuho S Mimoto, Anara Karaca, Neal Scherberg, Alexandra M Dumitrescu, Samuel Refetoff

Open access · greenAbstract readCase Reports
In one paragraph

Article in Thyroid : official journal of the American Thyroid Association, 2018. 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
0.8field-weighted citation impact, top 27% 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, 6 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

5 authors at 2 institutions in 1 country.

Mizuho S Mimoto1 Department of Medicine, The University of Chicago , Chicago, Illinois.
Anara Karaca2 Endocrine Unit, Massachusetts General Hospital and Harvard Medical School , Boston, Massachusetts.
Neal Scherberg1 Department of Medicine, The University of Chicago , Chicago, Illinois.
Alexandra M Dumitrescu1 Department of Medicine, The University of Chicago , Chicago, Illinois.
Samuel Refetoff1 Department of Medicine, The University of Chicago , Chicago, Illinois.
University of Chicago · USMassachusetts General Hospital · US

Funding

THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERSR01DK015070 · NIDDK · UNIVERSITY OF CHICAGO · PI ANTONIO C BIANCO, Alexandra Mihaela Dumitrescu · 1986 to 2026
$8.1M
INTERGRATED CLINICAL AND BASIC ENDOCRINOLOGY RESEARCHT32DK007011 · NIDDK · UNIVERSITY OF CHICAGO · PI Raghavendra G Mirmira · 1986 to 2026
$5.8M
THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERSR37DK015070 · NIDDK · UNIVERSITY OF CHICAGO · PI REFETOFF, SAMUEL · 1989 to 2015
$5.6M
Mouse Sbp2 deficiency models the multi-system syndrome of human SBP2 defectsR01DK110322 · NIDDK · UNIVERSITY OF CHICAGO · PI DUMITRESCU, ALEXANDRA MIHAELA · 2016 to 2020
$1.8M
NIDDK NIH HHS R01 DK015070NIDDK NIH HHS R01 DK110322NIDDK NIH HHS R37 DK015070NIDDK NIH HHS T32 DK007011
6 · The paper itself

Abstract

An individual with familial dysalbuminemic hyperthyroxinemia (FDH) due to a homozygous mutation (c.653G>A, p.R218H) in the human serum albumin (HSA) gene is reported. The patient was identified during evaluation of abnormal thyroid tests in a large family with multiple levels of consanguinity. He showed a greater increase in total thyroxine (T4) relative to that observed in heterozygous family members. The higher affinity of mutant HSA for T4, together with the large molar excess of HSA relative to thyroid hormones in serum, results in preferential association of T4 with the mutant rather than wild-type HSA in heterozygous individuals. The twofold greater amount of T4 bound to the mutant HSA in the homozygote, relative to heterozygotes, is an adaptive requirement to maintain a normal free T4 concentration.

Indexed as

HomozygoteFamily HealthFemaleHeterozygoteHumansHyperthyroxinemia, Familial DysalbuminemicMaleMutationSerum AlbuminSerum Albumin, HumanThyroid Function TestsThyroid GlandThyroxineYoung AdultSerum AlbuminSerum Albumin, HumanThyroxinealbumin (ALB)familial dysalbuminemic hyperthyroxinemia (FDH)human serum albumin (HSA)thyroid hormonethyroid hormone regulation

Identifiers

PMID29676214
PMCPMC5994679
OpenAlexW2802545388

What OpenQuestion holds

Textmetadata
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.