Evidence map›Paper›PMID 42206645›Full record

ArticleTherapeutic advances in respiratory disease

Novel

Wenxue Bai, Mengyao Guo, Lijuan Hua, Xuezhao Wang, Lirong Chen, Bingyi Liu, Yi Wang, Ying Zhou, Qi Wang, Ni Zhang and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Therapeutic advances in respiratory disease. 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

14 authors.

Wenxue BaiDepartment of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Mengyao GuoDepartment of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.ORCID 0009-0003-0117-0394
Lijuan HuaDepartment of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Xuezhao WangDepartment of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Lirong ChenDepartment of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.ORCID 0009-0008-2873-423X
Bingyi LiuDepartment of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.ORCID 0000-0002-3006-5564
Yi WangDepartment of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Ying ZhouDepartment of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Qi WangDepartment of Thoracic Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Ni ZhangDepartment of Thoracic Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Lan ChenDepartment of Dermatology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Min WuWenzhou Institute, University of Chinese Academy of Sciences, Wenzhou, Zhejiang, China.
Zongzhe LiDivision of Cardiology, Departments of Internal Medicine and Genetic Diagnosis Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
Min XieDepartment of Emergency and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.ORCID 0000-0003-4052-1647

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBirt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder caused by folliculin (

objectivesThis study aimed to characterize the clinical features and genetic variants in two distinct Chinese families with BHD syndrome and to preliminarily explore the feasibility of an mRNA-based protein replacement approach.

designA family-based prospective cohort study was conducted to identify

methodsWhole-exome sequencing (WES) identified candidate mutations in probands, which were validated by Sanger sequencing (p.W376R and p.Q44*). Structural/functional impacts of p.W376R were analyzed via bioinformatics and qPCR. HEK293T cells were transfected with empty vector, wild-type

resultsAffected members in both families predominantly presented with respiratory symptoms, lacking typical skin lesions and kidney tumors. WES identified the

conclusionWe provide co-segregation and functional evidence supporting the reclassification of the

Indexed as

Birt-Hogg-Dube SyndromeMutationProto-Oncogene ProteinsRNA, MessengerTumor Suppressor ProteinsAdultExome SequencingFemaleHEK293 CellsHumansMaleMechanistic Target of Rapamycin Complex 1PedigreePhenotypeProspective StudiesTransfectionFLCN protein, humanMechanistic Target of Rapamycin Complex 1Proto-Oncogene ProteinsRNA, MessengerTumor Suppressor ProteinsBHD syndromeFLCNmRNA interventionp.Q44*p.W376R

Identifiers

PMID42206645
PMCPMC13219926

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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.