Evidence map›Paper›PMID 42846437›Full record

ArticleFrontiers in medicine2026

A novel homozygous frameshift mutation in the

Hui Fan, Lin Wang, Xianglin Zhou, Xiangyang Lu, Binyi Yang, Lv Liu, Danhui Yang, Ting Guo, Hong Luo

Abstract read
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In one paragraph

Article in Frontiers in medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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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

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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

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No citing paper in PubMed yet.

4 · The record

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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

9 authors.

Hui FanDepartment of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Lin WangDepartment of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Xianglin ZhouDepartment of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Xiangyang LuDepartment of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Binyi YangDepartment of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Lv LiuDepartment of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Danhui YangDepartment of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Ting GuoDepartment of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Hong LuoDepartment of Pulmonary and Critical Care Medicine, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: CCDC151 is essential for outer dynein arms (ODA) docking and assembly, and loss of its function impairs mucociliary clearance, leading to primary ciliary dyskinesia (PCD). Pathogenic variants in Methods: Whole exome sequencing (WES) and sanger sequencing were used to identify disease-related genes in a Chinese family with PCD. Domain analysis was applied to predict the potential impact of the variant on CCDC151. Respiratory multiciliated cells were examined by high speed video microscopy analysis (HSVA), transmission electron microscopy (TEM), and immunofluorescence (IF) staining to assess the structural and functional consequences of the identified variant. Functional assays in Human embryonic kidney 293 T (HEK293T) cells were performed to assess the impact of the identified variant on mRNA and protein expression. Results: We described a 40-year-old man with recurrent respiratory infections, chronic sinusitis, diffuse bilateral bronchiectasis, and azoospermia. WES identified a previously unreported homozygous frameshift variant in Conclusion: We identified a novel homozygous frameshift

Indexed as

azoospermiaCCDC151frameshift variantinfertilityprimary ciliary dyskinesia

Identifiers

PMID42846437
PMCPMC13642661

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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.