Trial reportMolecular genetics and genomics : MGG2007
Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.
Trial report in Molecular genetics and genomics : MGG, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled 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.
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.
Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 57 citations in OpenAlex.
- A Comprehensive Analysis of Nuclear-Encoded Mitochondrial Genes in Schizophrenia.Biological psychiatry · 2018Pooled it
- Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis.Molecular psychiatry · 2012Pooled it
- Mitochondrial Processing Peptidases-Structure, Function and the Role in Human Diseases.International journal of molecular sciences · 2022Review
- Candidate Genes and Pathways Associated with Gilles de la Tourette Syndrome-Where Are We?Genes · 2021Review
- Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype.Orphanet journal of rare diseases · 2021Article
- Genetic and Epigenetic Etiology Underlying Autism Spectrum Disorder.Journal of clinical medicine · 2020Review
- Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder.Molecular diagnosis & therapy · 2018Review
- Coordinating Mitochondrial Biology Through the Stress-Responsive Regulation of Mitochondrial Proteases.International review of cell and molecular biology · 2018Review
- Bio-collections in autism research.Molecular autism · 2017Review
- Mitochondrial Quality Control Proteases in Neuronal Welfare.Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology · 2016Review
- The Genetic Etiology of Tourette Syndrome: Large-Scale Collaborative Efforts on the Precipice of Discovery.Frontiers in neuroscience · 2016Article
- Monoallelic expression of the human FOXP2 speech gene.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.European journal of human genetics : EJHG · 2014Article
- Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population.Journal of Zhejiang University. Science. B · 2014Article
- Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders.Molecular cytogenetics · 2014Article
- Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature.Neurogenetics · 2013Article
- Pathogenetic model for Tourette syndrome delineates overlap with related neurodevelopmental disorders including Autism.Translational psychiatry · 2012Review
- The genetics of Tourette syndrome.Nature reviews. Neurology · 2012Review
- Triggers for autism: genetic and environmental factors.Journal of central nervous system disease · 2012Article
- Genomic analysis of wig-1 pathways.PloS one · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We recently reported the disruption of the inner mitochondrial membrane peptidase 2-like (IMMP2L) gene by a chromosomal breakpoint in a patient with Gilles de la Tourette syndrome (GTS). In the present study we sought to identify genetic variation in IMMP2L, which, through alteration of protein function or level of expression might contribute to the manifestation of GTS. We screened 39 GTS patients, and, due to the localization of IMMP2L in the critical region for the autistic disorder (AD) locus on chromosome 7q (AUTS1), 95 multiplex AD families; however, no coding mutations were found in either GTS or AD patients. In addition, no parental-specific expression of IMMP2L was detected in somatic cell hybrids containing human chromosome 7 and human cell lines carrying a maternal uniparental disomy for chromosome 7 (mUPD7). Despite the fact that no deleterious mutations in IMMPL2 (other than the inverted duplication identified previously) were identified in either GTS or AD, this gene cannot be excluded as a possible rare cause of either disorder.
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What OpenQuestion holds
Registered trials
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.