ArticleNeurology. Genetics2019
Novel mutation in
Open access · goldAbstract read
In one paragraph
Article in Neurology. Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.1field-weighted citation impact, top 23% of its field
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.
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.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.Frontiers in genetics · 2023Article
- Report of two pedigrees with heterozygous HTRA1 variants-related cerebral small vessel disease and literature review.Molecular genetics & genomic medicine · 2022Review
- HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF-β/Smad signaling pathway in CARASIL model mice.Brain and behavior · 2022Article
- Novel In-Frame Deletion inGenes · 2021Article
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 1 institution in 3 countries.
Amin ZiaeiTranslational Laboratory in Genetic Medicine (TLGM) (A. Ziaei, X.X., M.A.P.), Agency for Science, Technology and Research (ASTAR), 8A Biomedical Grove, Immunos, Level 5; Department of Medicine (A. Ziaei, M.A.P.), National University of Singapore; Department of Neurology and Stroke Center (X.X.), the First Affiliated Hospital, Jinan University; Clinical Neuroscience Institute of Jinan University (X.X.), Guangzhou, Guangdong, China; Department of Tissue Engineering and Regenerative Medicine (L.D.), School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Institute of Medical Biology (IMB) (C.B., B.R.), A*STAR, 8A Biomedical Grove, Immunos, Level 5, Singapore; Institute for Stroke and Dementia Research (A. Zellner, C.H.), Klinikum der Universität München, Ludwig Maximilians University, Munich, Germany; Comparative Genomics Laboratory (A.Y.J.N., S.T., B.V.), Institute of Molecular and Cell Biology, A*STAR, Biopolis; Department of Paediatrics (B.V.), National University of Singapore; Department of Neurology (A. Ziaei, V.S.), Isfahan Neurosciences Research Centre, Faculty of Medicine, Isfahan University of Medical Sciences, Iran; and Department of Physiology (M.A.P.), National University of Singapore.
Xiaohong XuTranslational Laboratory in Genetic Medicine (TLGM) (A. Ziaei, X.X., M.A.P.), Agency for Science, Technology and Research (ASTAR), 8A Biomedical Grove, Immunos, Level 5; Department of Medicine (A. Ziaei, M.A.P.), National University of Singapore; Department of Neurology and Stroke Center (X.X.), the First Affiliated Hospital, Jinan University; Clinical Neuroscience Institute of Jinan University (X.X.), Guangzhou, Guangdong, China; Department of Tissue Engineering and Regenerative Medicine (L.D.), School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Institute of Medical Biology (IMB) (C.B., B.R.), A*STAR, 8A Biomedical Grove, Immunos, Level 5, Singapore; Institute for Stroke and Dementia Research (A. Zellner, C.H.), Klinikum der Universität München, Ludwig Maximilians University, Munich, Germany; Comparative Genomics Laboratory (A.Y.J.N., S.T., B.V.), Institute of Molecular and Cell Biology, A*STAR, Biopolis; Department of Paediatrics (B.V.), National University of Singapore; Department of Neurology (A. Ziaei, V.S.), Isfahan Neurosciences Research Centre, Faculty of Medicine, Isfahan University of Medical Sciences, Iran; and Department of Physiology (M.A.P.), National University of Singapore.
Leila DehghaniTranslational Laboratory in Genetic Medicine (TLGM) (A. Ziaei, X.X., M.A.P.), Agency for Science, Technology and Research (ASTAR), 8A Biomedical Grove, Immunos, Level 5; Department of Medicine (A. Ziaei, M.A.P.), National University of Singapore; Department of Neurology and Stroke Center (X.X.), the First Affiliated Hospital, Jinan University; Clinical Neuroscience Institute of Jinan University (X.X.), Guangzhou, Guangdong, China; Department of Tissue Engineering and Regenerative Medicine (L.D.), School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Institute of Medical Biology (IMB) (C.B., B.R.), A*STAR, 8A Biomedical Grove, Immunos, Level 5, Singapore; Institute for Stroke and Dementia Research (A. Zellner, C.H.), Klinikum der Universität München, Ludwig Maximilians University, Munich, Germany; Comparative Genomics Laboratory (A.Y.J.N., S.T., B.V.), Institute of Molecular and Cell Biology, A*STAR, Biopolis; Department of Paediatrics (B.V.), National University of Singapore; Department of Neurology (A. Ziaei, V.S.), Isfahan Neurosciences Research Centre, Faculty of Medicine, Isfahan University of Medical Sciences, Iran; and Department of Physiology (M.A.P.), National University of Singapore.
Carine BonnardTranslational Laboratory in Genetic Medicine (TLGM) (A. Ziaei, X.X., M.A.P.), Agency for Science, Technology and Research (ASTAR), 8A Biomedical Grove, Immunos, Level 5; Department of Medicine (A. Ziaei, M.A.P.), National University of Singapore; Department of Neurology and Stroke Center (X.X.), the First Affiliated Hospital, Jinan University; Clinical Neuroscience Institute of Jinan University (X.X.), Guangzhou, Guangdong, China; Department of Tissue Engineering and Regenerative Medicine (L.D.), School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Institute of Medical Biology (IMB) (C.B., B.R.), A*STAR, 8A Biomedical Grove, Immunos, Level 5, Singapore; Institute for Stroke and Dementia Research (A. Zellner, C.H.), Klinikum der Universität München, Ludwig Maximilians University, Munich, Germany; Comparative Genomics Laboratory (A.Y.J.N., S.T., B.V.), Institute of Molecular and Cell Biology, A*STAR, Biopolis; Department of Paediatrics (B.V.), National University of Singapore; Department of Neurology (A. Ziaei, V.S.), Isfahan Neurosciences Research Centre, Faculty of Medicine, Isfahan University of Medical Sciences, Iran; and Department of Physiology (M.A.P.), National University of Singapore.
Andreas ZellnerTranslational Laboratory in Genetic Medicine (TLGM) (A. Ziaei, X.X., M.A.P.), Agency for Science, Technology and Research (ASTAR), 8A Biomedical Grove, Immunos, Level 5; Department of Medicine (A. Ziaei, M.A.P.), National University of Singapore; Department of Neurology and Stroke Center (X.X.), the First Affiliated Hospital, Jinan University; Clinical Neuroscience Institute of Jinan University (X.X.), Guangzhou, Guangdong, China; Department of Tissue Engineering and Regenerative Medicine (L.D.), School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Institute of Medical Biology (IMB) (C.B., B.R.), A*STAR, 8A Biomedical Grove, Immunos, Level 5, Singapore; Institute for Stroke and Dementia Research (A. Zellner, C.H.), Klinikum der Universität München, Ludwig Maximilians University, Munich, Germany; Comparative Genomics Laboratory (A.Y.J.N., S.T., B.V.), Institute of Molecular and Cell Biology, A*STAR, Biopolis; Department of Paediatrics (B.V.), National University of Singapore; Department of Neurology (A. Ziaei, V.S.), Isfahan Neurosciences Research Centre, Faculty of Medicine, Isfahan University of Medical Sciences, Iran; and Department of Physiology (M.A.P.), National University of Singapore.
Alvin Yu Jin NgTranslational Laboratory in Genetic Medicine (TLGM) (A. Ziaei, X.X., M.A.P.), Agency for Science, Technology and Research (ASTAR), 8A Biomedical Grove, Immunos, Level 5; Department of Medicine (A. Ziaei, M.A.P.), National University of Singapore; Department of Neurology and Stroke Center (X.X.), the First Affiliated Hospital, Jinan University; Clinical Neuroscience Institute of Jinan University (X.X.), Guangzhou, Guangdong, China; Department of Tissue Engineering and Regenerative Medicine (L.D.), School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Institute of Medical Biology (IMB) (C.B., B.R.), A*STAR, 8A Biomedical Grove, Immunos, Level 5, Singapore; Institute for Stroke and Dementia Research (A. Zellner, C.H.), Klinikum der Universität München, Ludwig Maximilians University, Munich, Germany; Comparative Genomics Laboratory (A.Y.J.N., S.T., B.V.), Institute of Molecular and Cell Biology, A*STAR, Biopolis; Department of Paediatrics (B.V.), National University of Singapore; Department of Neurology (A. Ziaei, V.S.), Isfahan Neurosciences Research Centre, Faculty of Medicine, Isfahan University of Medical Sciences, Iran; and Department of Physiology (M.A.P.), National University of Singapore.
Sumanty TohariTranslational Laboratory in Genetic Medicine (TLGM) (A. Ziaei, X.X., M.A.P.), Agency for Science, Technology and Research (ASTAR), 8A Biomedical Grove, Immunos, Level 5; Department of Medicine (A. Ziaei, M.A.P.), National University of Singapore; Department of Neurology and Stroke Center (X.X.), the First Affiliated Hospital, Jinan University; Clinical Neuroscience Institute of Jinan University (X.X.), Guangzhou, Guangdong, China; Department of Tissue Engineering and Regenerative Medicine (L.D.), School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Institute of Medical Biology (IMB) (C.B., B.R.), A*STAR, 8A Biomedical Grove, Immunos, Level 5, Singapore; Institute for Stroke and Dementia Research (A. Zellner, C.H.), Klinikum der Universität München, Ludwig Maximilians University, Munich, Germany; Comparative Genomics Laboratory (A.Y.J.N., S.T., B.V.), Institute of Molecular and Cell Biology, A*STAR, Biopolis; Department of Paediatrics (B.V.), National University of Singapore; Department of Neurology (A. Ziaei, V.S.), Isfahan Neurosciences Research Centre, Faculty of Medicine, Isfahan University of Medical Sciences, Iran; and Department of Physiology (M.A.P.), National University of Singapore.
Byrappa VenkateshTranslational Laboratory in Genetic Medicine (TLGM) (A. Ziaei, X.X., M.A.P.), Agency for Science, Technology and Research (ASTAR), 8A Biomedical Grove, Immunos, Level 5; Department of Medicine (A. Ziaei, M.A.P.), National University of Singapore; Department of Neurology and Stroke Center (X.X.), the First Affiliated Hospital, Jinan University; Clinical Neuroscience Institute of Jinan University (X.X.), Guangzhou, Guangdong, China; Department of Tissue Engineering and Regenerative Medicine (L.D.), School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Institute of Medical Biology (IMB) (C.B., B.R.), A*STAR, 8A Biomedical Grove, Immunos, Level 5, Singapore; Institute for Stroke and Dementia Research (A. Zellner, C.H.), Klinikum der Universität München, Ludwig Maximilians University, Munich, Germany; Comparative Genomics Laboratory (A.Y.J.N., S.T., B.V.), Institute of Molecular and Cell Biology, A*STAR, Biopolis; Department of Paediatrics (B.V.), National University of Singapore; Department of Neurology (A. Ziaei, V.S.), Isfahan Neurosciences Research Centre, Faculty of Medicine, Isfahan University of Medical Sciences, Iran; and Department of Physiology (M.A.P.), National University of Singapore.
Christof HaffnerTranslational Laboratory in Genetic Medicine (TLGM) (A. Ziaei, X.X., M.A.P.), Agency for Science, Technology and Research (ASTAR), 8A Biomedical Grove, Immunos, Level 5; Department of Medicine (A. Ziaei, M.A.P.), National University of Singapore; Department of Neurology and Stroke Center (X.X.), the First Affiliated Hospital, Jinan University; Clinical Neuroscience Institute of Jinan University (X.X.), Guangzhou, Guangdong, China; Department of Tissue Engineering and Regenerative Medicine (L.D.), School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Institute of Medical Biology (IMB) (C.B., B.R.), A*STAR, 8A Biomedical Grove, Immunos, Level 5, Singapore; Institute for Stroke and Dementia Research (A. Zellner, C.H.), Klinikum der Universität München, Ludwig Maximilians University, Munich, Germany; Comparative Genomics Laboratory (A.Y.J.N., S.T., B.V.), Institute of Molecular and Cell Biology, A*STAR, Biopolis; Department of Paediatrics (B.V.), National University of Singapore; Department of Neurology (A. Ziaei, V.S.), Isfahan Neurosciences Research Centre, Faculty of Medicine, Isfahan University of Medical Sciences, Iran; and Department of Physiology (M.A.P.), National University of Singapore.
Bruno ReversadeTranslational Laboratory in Genetic Medicine (TLGM) (A. Ziaei, X.X., M.A.P.), Agency for Science, Technology and Research (ASTAR), 8A Biomedical Grove, Immunos, Level 5; Department of Medicine (A. Ziaei, M.A.P.), National University of Singapore; Department of Neurology and Stroke Center (X.X.), the First Affiliated Hospital, Jinan University; Clinical Neuroscience Institute of Jinan University (X.X.), Guangzhou, Guangdong, China; Department of Tissue Engineering and Regenerative Medicine (L.D.), School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Institute of Medical Biology (IMB) (C.B., B.R.), A*STAR, 8A Biomedical Grove, Immunos, Level 5, Singapore; Institute for Stroke and Dementia Research (A. Zellner, C.H.), Klinikum der Universität München, Ludwig Maximilians University, Munich, Germany; Comparative Genomics Laboratory (A.Y.J.N., S.T., B.V.), Institute of Molecular and Cell Biology, A*STAR, Biopolis; Department of Paediatrics (B.V.), National University of Singapore; Department of Neurology (A. Ziaei, V.S.), Isfahan Neurosciences Research Centre, Faculty of Medicine, Isfahan University of Medical Sciences, Iran; and Department of Physiology (M.A.P.), National University of Singapore.
Vahid ShaygannejadTranslational Laboratory in Genetic Medicine (TLGM) (A. Ziaei, X.X., M.A.P.), Agency for Science, Technology and Research (ASTAR), 8A Biomedical Grove, Immunos, Level 5; Department of Medicine (A. Ziaei, M.A.P.), National University of Singapore; Department of Neurology and Stroke Center (X.X.), the First Affiliated Hospital, Jinan University; Clinical Neuroscience Institute of Jinan University (X.X.), Guangzhou, Guangdong, China; Department of Tissue Engineering and Regenerative Medicine (L.D.), School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Institute of Medical Biology (IMB) (C.B., B.R.), A*STAR, 8A Biomedical Grove, Immunos, Level 5, Singapore; Institute for Stroke and Dementia Research (A. Zellner, C.H.), Klinikum der Universität München, Ludwig Maximilians University, Munich, Germany; Comparative Genomics Laboratory (A.Y.J.N., S.T., B.V.), Institute of Molecular and Cell Biology, A*STAR, Biopolis; Department of Paediatrics (B.V.), National University of Singapore; Department of Neurology (A. Ziaei, V.S.), Isfahan Neurosciences Research Centre, Faculty of Medicine, Isfahan University of Medical Sciences, Iran; and Department of Physiology (M.A.P.), National University of Singapore.
Mahmoud A PouladiTranslational Laboratory in Genetic Medicine (TLGM) (A. Ziaei, X.X., M.A.P.), Agency for Science, Technology and Research (ASTAR), 8A Biomedical Grove, Immunos, Level 5; Department of Medicine (A. Ziaei, M.A.P.), National University of Singapore; Department of Neurology and Stroke Center (X.X.), the First Affiliated Hospital, Jinan University; Clinical Neuroscience Institute of Jinan University (X.X.), Guangzhou, Guangdong, China; Department of Tissue Engineering and Regenerative Medicine (L.D.), School of Advanced Technologies in Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Institute of Medical Biology (IMB) (C.B., B.R.), A*STAR, 8A Biomedical Grove, Immunos, Level 5, Singapore; Institute for Stroke and Dementia Research (A. Zellner, C.H.), Klinikum der Universität München, Ludwig Maximilians University, Munich, Germany; Comparative Genomics Laboratory (A.Y.J.N., S.T., B.V.), Institute of Molecular and Cell Biology, A*STAR, Biopolis; Department of Paediatrics (B.V.), National University of Singapore; Department of Neurology (A. Ziaei, V.S.), Isfahan Neurosciences Research Centre, Faculty of Medicine, Isfahan University of Medical Sciences, Iran; and Department of Physiology (M.A.P.), National University of Singapore.ORCID 0000-0002-9030-0976
Isfahan University of Medical Sciences · IR
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo investigate the possible involvement of germline mutations in a neurologic condition involving diffuse white matter lesions.
methodsThe patients were 3 siblings born to healthy parents. We performed homozygosity mapping, whole-exome sequencing, site-directed mutagenesis, and immunoblotting.
resultsAll 3 patients showed clinical manifestations of ataxia, behavioral and mood changes, premature hair loss, memory loss, and lower back pain. In addition, they presented with inflammatory-like features and recurrent rhinitis. MRI showed abnormal diffuse demyelination lesions in the brain and myelitis in the spinal cord. We identified an insertion in high-temperature requirement A (
conclusionsThe patients' clinical manifestations are consistent with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL; OMIM #600142), which is known to be caused by
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