Evidence map›Paper›PMID 36105777›Full record

ArticleFrontiers in neurology2022

Case report: Phenotype expansion and analysis of

Yuefang Liu, Zhe Liang, Weili Cai, Qixiang Shao, Qiong Pan

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in neurology, 2022. 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. [Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2026
    Review
  2. De NovoHuman mutation · 2026
    Article
  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

5 authors.

Yuefang LiuDepartment of Clinical Genetics, Huai'an Maternity and Child Clinical College of Xuzhou Medical University, Huai'an, China.
Zhe LiangDepartment of Clinical Genetics, Huai'an Maternity and Child Clinical College of Xuzhou Medical University, Huai'an, China.
Weili CaiSchool of Medical Science and Laboratory Medicine, Jiangsu College of Nursing, Institute of Medical Genetics and Reproductive Immunity, Huai'an, China.
Qixiang ShaoSchool of Medical Science and Laboratory Medicine, Jiangsu College of Nursing, Institute of Medical Genetics and Reproductive Immunity, Huai'an, China.
Qiong PanDepartment of Clinical Genetics, Huai'an Maternity and Child Clinical College of Xuzhou Medical University, Huai'an, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: TRIO and CNKSR2 have been demonstrated as the important regulators of RAC1. TRIO is a guanine exchange factor (GEF) and promotes RAC1 activity by accelerating the GDP to GTP exchange. CNKSR2 is a scaffold and adaptor protein and helps to maintain Rac1 GTP/GDP levels at a concentration conducive for dendritic spines formation. Dysregulated RAC1 activity causes synaptic function defects leading to neurodevelopmental disorders (NDDs), which manifest as intellectual disability, learning difficulties, and language disorders. Case presentation: Here, we reported two cases with Conclusion: The novel variants and unique clinical features of these two pedigrees will help expand our understanding of the genetic and phenotypic profile of

Indexed as

case reportCNKSR2neurodevelopmental disordersRAC1TRIO

Identifiers

PMID36105777
PMCPMC9465251

What OpenQuestion holds

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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.