ArticleAmerican journal of human genetics2009
IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.
Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 53 citations in OpenAlex.
- An Update on the Adult-Onset Hereditary Cerebellar Ataxias: Novel Genetic Causes and New Diagnostic Approaches.Cerebellum (London, England) · 2024Review
- IFRD1 promotes tumor cells "low-cost" survival under glutamine starvation via inhibiting histone H1.0 nucleophagy.Cell discovery · 2024Article
- Spinocerebellar ataxias (SCAs) caused by common mutations.Neurogenetics · 2021Review
- Aberrant Cerebellar Circuitry in the Spinocerebellar Ataxias.Frontiers in neuroscience · 2020Review
- Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia.Journal of human genetics · 2018Article
- Transcriptional Modulator Ifrd1 Regulates Osteoclast Differentiation through Enhancing the NF-κB/NFATc1 Pathway.Molecular and cellular biology · 2016Article
- Mutated genes and driver pathways involved in myelodysplastic syndromes—a transcriptome sequencing based approach.Molecular bioSystems · 2015Article
- Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Cerebellum (London, England) · 2014Article
- Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder.Molecular autism · 2014Article
- Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities.Hearing research · 2012Review
- Analysis of DNA sequence variants detected by high-throughput sequencing.Human mutation · 2012Article
- Identification of rare variants from exome sequence in a large pedigree with autism.Human heredity · 2012Article
- Potential genetic risk factors for chronic TMD: genetic associations from the OPPERA case control study.The journal of pain · 2011Article
- Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.Orphanet journal of rare diseases · 2011Review
- Revisiting Mendelian disorders through exome sequencing.Human genetics · 2011Review
- Massively parallel sequencing and rare disease.Human molecular genetics · 2010Review
- Exome sequencing: the sweet spot before whole genomes.Human molecular genetics · 2010Review
- Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.American journal of human genetics · 2010Article
- Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.American journal of human genetics · 2010Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
We have established strong linkage evidence that supports mapping autosomal-dominant sensory/motor neuropathy with ataxia (SMNA) to chromosome 7q22-q32. SMNA is a rare neurological disorder whose phenotype encompasses both the central and the peripheral nervous system. In order to identify a gene responsible for SMNA, we have undertaken a comprehensive genomic evaluation of the region of linkage, including evaluation for repeat expansion and small deletions or duplications, capillary sequencing of candidate genes, and massively parallel sequencing of all coding exons. We excluded repeat expansion and small deletions or duplications as causative, and through microarray-based hybrid capture and massively parallel short-read sequencing, we identified a nonsynonymous variant in the human interferon-related developmental regulator gene 1 (IFRD1) as a disease-causing candidate. Sequence conservation, animal models, and protein structure evaluation support the involvement of IFRD1 in SMNA. Mutation analysis of IFRD1 in additional patients with similar phenotypes is needed for demonstration of causality and further evaluation of its importance in neurological diseases.
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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.