Evidence map›Paper›PMID 39554083›Full record

ArticlebioRxiv : the preprint server for biology2025

Rubina G Simikyan, Xinyuan Zhang, Olga Strelkova, Nathan Li, MengYu Zhu, Andreas Eckhard, Petr Y Baranov, Xudong Wu, Lauren Richey, Artur A Indzhykulian

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. 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

5 · Who and what money

Authors and funding

10 authors.

Rubina G SimikyanDepartment of Otolaryngology Head and Neck Surgery, Mass Eye and Ear, Harvard Medical School, Boston, MA, United States.ORCID 0000-0002-8074-0070
Xinyuan ZhangDepartment of Otolaryngology Head and Neck Surgery, Mass Eye and Ear, Harvard Medical School, Boston, MA, United States.ORCID 0000-0001-6986-0541
Olga StrelkovaDepartment of Otolaryngology Head and Neck Surgery, Mass Eye and Ear, Harvard Medical School, Boston, MA, United States.
Nathan LiTufts Comparative Medicine Services, Tufts University, Boston, MA, United States.
MengYu ZhuDepartment of Otolaryngology Head and Neck Surgery, Mass Eye and Ear, Harvard Medical School, Boston, MA, United States.
Andreas EckhardDepartment of Otolaryngology Head and Neck Surgery, Mass Eye and Ear, Harvard Medical School, Boston, MA, United States.ORCID 0000-0002-4921-6043
Petr Y BaranovDepartment of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, United States.ORCID 0000-0002-5526-7058
Xudong WuDepartment of Neurobiology, Harvard Medical School, Boston, MA, United States.
Lauren RicheyTufts Comparative Medicine Services, Tufts University, Boston, MA, United States.
Artur A IndzhykulianDepartment of Otolaryngology Head and Neck Surgery, Mass Eye and Ear, Harvard Medical School, Boston, MA, United States.ORCID 0000-0002-2076-6818

Funding

Molecular Basis of Hair Cell Stereocilia Bundle MorphologyR01DC017166 · NIDCD · MASSACHUSETTS EYE AND EAR INFIRMARY · PI INDZHYKULIAN, ARTUR · 2018 to 2022
$3.5M
Development of Gene Therapy for Hereditary Deafness using Rational Protein EngineeringR01DC020190 · NIDCD · MASSACHUSETTS EYE AND EAR INFIRMARY · PI DAVID P COREY, Artur Indzhykulian · 2022 to 2026
$3.3M
Calcium Regulation in Cochlear CellsR01DC021795 · NIDCD · CASE WESTERN RESERVE UNIVERSITY · PI Artur Indzhykulian, Ruben Stepanyan · 2025 to 2026
$1.3M
NIDCD NIH HHS R01 DC017166NIDCD NIH HHS R01 DC020190NIDCD NIH HHS R01 DC021795
6 · The paper itself

Abstract

Fraser syndrome is a rare autosomal recessive disorder characterized by multiple congenital malformations, including cryptophthalmos, syndactyly, and renal agenesis, which can lead to severe complications beginning at the embryonic stage. Mutations in genes encoding extracellular matrix proteins such as FRAS1, FREM1, FREM2, and the associated trafficking protein GRIP1, are implicated in Fraser syndrome. These proteins are critical for maintaining epithelial integrity during embryogenesis, with deficiencies leading to tissue detachment and blistering phenotypes in mouse models. The FREM2 protein is a single-pass membrane protein of 3169 amino acids. While

Indexed as

bilateral renal agenesiscryptophthalmosembryogenesisFraser syndromeFREM2syndactyly

Identifiers

PMID39554083
PMCPMC11565893

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.