Evidence map›Paper›PMID 42078357›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Georg Sebastian Hönes, Xiao-Hui Liao, Elisa Annabelle Mahler, Philipp Herrmann, Anja Eckstein, Dagmar Führer, Jesus Moreno Castillo, John Chiang, Andrea Louise Vincent, Roy E Weiss and 3 more

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2026. 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
–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

0 citing papers in PubMed.

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

13 authors.

Georg Sebastian HönesDepartment of Endocrinology, Diabetes and Metabolism and Division of Laboratory Research, Center for Rare Endocrine Diseases/Endo-ERN, University Hospital Essen, Essen, Germany.
Xiao-Hui LiaoDepartment of Medicine, The University of Chicago, Chicago, IL USA.
Elisa Annabelle MahlerDepartment of Ophthalmology, University Hospital Bonn, Bonn, Germany.
Philipp HerrmannDepartment of Ophthalmology, University Hospital Bonn, Bonn, Germany.
Anja EcksteinCenter Endocrine Medicine, University Hospital Essen, Essen, Germany.
Dagmar FührerDepartment of Endocrinology, Diabetes and Metabolism and Division of Laboratory Research, Center for Rare Endocrine Diseases/Endo-ERN, University Hospital Essen, Essen, Germany.
Jesus Moreno CastilloDepartment of Medicine, The University of Chicago, Chicago, IL USA.
John ChiangMolecular Vision Laboratory Hillsboro, Oregon, USA.
Andrea Louise VincentDepartment of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Science University of Auckland, Auckland, and Eye Department Greenlane Clinical Centre, Te.
Roy E WeissDepartment of Medicine, University of Miami Miller School of Medicine, Miami, Florida, USA. Toka Tumai, Health New Zealand, Te Whatu Ora, Auckland New Zealand.
Alexandra Mihaela DumitrescuDepartment of Medicine, The University of Chicago, Chicago, IL USA.
Samuel RefetoffDepartment of Medicine, The University of Chicago, Chicago, IL USA.
Lars Christian MoellerDepartment of Endocrinology, Diabetes and Metabolism and Division of Laboratory Research, Center for Rare Endocrine Diseases/Endo-ERN, University Hospital Essen, Essen, Germany.ORCID 0000-0002-9330-9036

Funding

THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERSR01DK015070 · NIDDK · UNIVERSITY OF CHICAGO · PI ANTONIO C BIANCO, Alexandra Mihaela Dumitrescu · 1986 to 2026
$8.1M
THYROID PHYSIOLOGY STUDIES OF INHERITED DISORDERSR37DK015070 · NIDDK · UNIVERSITY OF CHICAGO · PI REFETOFF, SAMUEL · 1989 to 2015
$5.6M
NIDDK NIH HHS R01 DK015070NIDDK NIH HHS R37 DK015070
6 · The paper itself

Abstract

Background: Heterozygous c.283+1G>A and c.283G>A variants in the Methods: gDNA and mRNA were obtained from leukocytes. Clinical characterization included biochemistry, bone density and body composition, ECG, echocardiography, ultrasound, audiometry and color-vision. Results: The patients manifested no resistance to thyroid hormone beta (RTHβ) and had normal FT4 and TSH. Detailed studies in two patients showed no goiter, tachycardia, hypercholesterinemia or hepatic steatosis. Hearing was not impaired. Both had impaired color vision and reduced bone density. RT-PCR from all three patients revealed skipping of exon 4 exclusive to TRβ1, producing a deletion of 87 amino acids in the N-terminal domain (TRβ1 Conclusion: These

Indexed as

color visionexon 4 skippinggain-of-functionintrinsically disordered regionmacular degenerationresistance to thyroid hormone (RTH)THRBthyroid hormone receptorTRβ1

Identifiers

PMID42078357
PMCPMC13131726

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.