Evidence map›Paper›PMID 39729176›Full record

ArticleJournal of molecular neuroscience : MN2024

Identifying the Pathogenicity of a Novel NPRL3 Missense Mutation Using Personalized Cortical Organoid Model of Focal Cortical Dysplasia.

Rongrong Lu, Ying Xu, Hao Li, Man Xiong, Wenhao Zhou, Weijun Feng, Rui Zhao

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Journal of molecular neuroscience : MN, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
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

7 authors.

Rongrong Lu *Department of Neurosurgery, National Children's Medical Center (Shanghai), Children's Hospital of Fudan University, No.399 Wan Yuan Avenue, Minhang District, Shanghai, 201102, China.
Ying Xu *Institute of Pediatrics, Shanghai Key Laboratory of Medical Epigenetics, International Co-Laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Children's Hospital of Fudan University, Shanghai Medical College, Fudan University, Shanghai, 200032, China.
Hao LiDepartment of Neurosurgery, National Children's Medical Center (Shanghai), Children's Hospital of Fudan University, No.399 Wan Yuan Avenue, Minhang District, Shanghai, 201102, China.
Man XiongState Key Laboratory of Medical Neurobiology, MOE Frontiers Center for Brain Science, Institutes of Brain Science, Fudan University, Shanghai, 200032, China.
Wenhao ZhouDivision of Neonatology and Center for Newborn Care, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, China.
Weijun FengInstitute of Pediatrics, Shanghai Key Laboratory of Medical Epigenetics, International Co-Laboratory of Medical Epigenetics and Metabolism, Institutes of Biomedical Sciences, Children's Hospital of Fudan University, Shanghai Medical College, Fudan University, Shanghai, 200032, China. fengweijun@fudan.edu.cn.
Rui ZhaoDepartment of Neurosurgery, National Children's Medical Center (Shanghai), Children's Hospital of Fudan University, No.399 Wan Yuan Avenue, Minhang District, Shanghai, 201102, China. dr_zhaorui@sina.com.

Funding

National Key Research and Development Program of China 2022YFA0806603National Natural Science Foundation of China #82171167the Medical Innovation Research Project, Shanghai Science and Technology Innovation Plan of Action Grant No. 22Y11904400
6 · The paper itself

Abstract

Focal cortical dysplasia (FCD) II is a cortical malformation characterized by cortical architectural abnormalities, dysmorphic neurons, with or without balloon cells. Here, we systematically explored the pathophysiological role of the GATOR1 subunit NPRL3 variants including a novel mutation from iPSCs derived from one FCD II patient. Three FCD II children aged 0.5-7 years who underwent cerebral lesion resection in our hospital from March 2019 to October 2019 were included in this study. We generated patient-derived iPSCs and performed whole-exome sequencing to accurately identify somatic cells with mutations. The effect of the newly identified NPRL3 mutation found in one of our FCD II patients was evaluated using the personalized cortical organoid model and the NPRL3 knockout HEK293T cells. Whole-exome sequencing of iPSCs derived from FCD II patients revealed a novel NPRL3 C.767G > C (p.R256P) heterozygous mutation. Cortical organoids generated from iPSCs of FCD II patients were larger than control iPSCs, with increased number of p-S6

Indexed as

Induced Pluripotent Stem CellsMutation, MissenseOrganoidsReceptors, Atrial Natriuretic FactorCerebral CortexChildChild, PreschoolEpilepsyFemaleFocal Cortical DysplasiaGTPase-Activating ProteinsHEK293 CellsHumansInfantMaleMalformations of Cortical Development, Group IGTPase-Activating ProteinsNPRL2 protein, humanNPRL3 protein, humanReceptors, Atrial Natriuretic FactorTumor Suppressor ProteinsFocal cortical dysplasiaHuman cortical organoidsInduced pluripotent stem cellsNPRL3 missense mutation

Identifiers

PMID39729176

What OpenQuestion holds

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Read underepoch 390

Registered trials

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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.