ArticleAmerican journal of human genetics1997
The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 99 citations in OpenAlex.
- Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1-3.Frontiers in neurology · 2024Article
- Review
- Genomic Variability in the Survival Motor Neuron Genes (International journal of molecular sciences · 2021Review
- The Identification of Novel Biomarkers Is Required to Improve Adult SMA Patient Stratification, Diagnosis and Treatment.Journal of personalized medicine · 2020Review
- Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report.BMC medical genetics · 2019Article
- D5S351 and D5S1414 located at the spinal muscular atrophy critical region represent novel informative markers in the Iranian population.Meta gene · 2016Article
- Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases.Frontiers in molecular biosciences · 2016Review
- Genetic findings of Cypriot spinal muscular atrophy patients.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2015Article
- Genotype-phenotype correlation of survival motor neuron and neuronal apoptosis inhibitory protein genes in spinal muscular atrophy patients from Iran.Advanced biomedical research · 2014Article
- Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy.Science translational medicine · 2012Article
- Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.Human genetics · 2009Article
- Deficiency of the zinc finger protein ZPR1 causes neurodegeneration.Proceedings of the National Academy of Sciences of the United States of America · 2006Article
- Segmental duplications in euchromatic regions of human chromosome 5: a source of evolutionary instability and transcriptional innovation.Genome research · 2003Article
- Cloning the human and mouse MMS19 genes and functional complementation of a yeast mms19 deletion mutant.Nucleic acids research · 2001Article
- Spinal muscular atrophy: present state.Brain pathology (Zurich, Switzerland) · 2001Review
- High-resolution genetic and physical map of the Lgn1 interval in C57BL/6J implicates Naip2 or Naip5 in Legionella pneumophila pathogenesis.Genome research · 2000Article
- Inverted Alu repeats unstable in yeast are excluded from the human genome.The EMBO journal · 2000Article
- Nucleotide excision repair of DNA with recombinant human proteins: definition of the minimal set of factors, active forms of TFIIH, and modulation by CAK.Genes & development · 2000Article
- Spinal muscular atrophy.Journal of inherited metabolic disease · 1999Review
- A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.Proceedings of the National Academy of Sciences of the United States of America · 1999Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations of the survival motor neurone gene (SMN) are associated with spinal muscular atrophy (SMA), a frequent lethal autosomal recessive disorder. In spite of this, no phenotype-genotype correlation was observed, since the SMN gene is lacking in the majority of patients affected with either the severe form (type I) or the milder forms (types II and III). Here, we show that the gene encoding p44, a subunit of the basal transcription factor TFIIH, is duplicated in the SMA region and that the p44 gene products (p44t and p44c) differ by three amino acid changes. Gene analysis of a total of 94 unrelated SMA patients revealed that the p44t gene is involved in large-scale deletions associated with Werdnig-Hoffmann disease (type I). The TFIIH polypeptide composition as well as transcription and DNA repair activities are normal in patients lacking the p44t gene on both mutant chromosomes, suggesting that the p44t gene is not critical for the development of SMA.
Indexed as
Identifiers
8981949PMC1712562W342055937What 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.