ArticleClinical genetics2012
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.
Article in Clinical genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 37 citations in OpenAlex.
- The minor spliceosome component U4atac regulates JAK/STAT signaling to modulate hematopoiesis and immune responses in Drosophila melanogaster.Nature communications · 2026Article
- RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- LSM7 coordinates scaRNA-mediated snRNA modification to ensure spliceosome fidelity and spermatogonial stem cell differentiation.Cell death and differentiation · 2026Article
- Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients.Orphanet journal of rare diseases · 2026Article
- Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.Human genomics · 2023Article
- Heterogeneity in combined immunodeficiencies with associated or syndromic features (Review).Experimental and therapeutic medicine · 2021Review
- Aberrant interaction of FUS with the U1 snRNA provides a molecular mechanism of FUS induced amyotrophic lateral sclerosis.Nature communications · 2020Article
- Functional Interplay between Small Non-Coding RNAs and RNA Modification in the Brain.Non-coding RNA · 2018Review
- The emerging role of minor intron splicing in neurological disorders.Cell stress · 2018Review
- The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.American journal of medical genetics. Part A · 2018Article
- Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.Human genomics · 2018Article
- Genetics of Short Stature.Endocrinology and metabolism clinics of North America · 2017Review
- Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.Current osteoporosis reports · 2017Review
- Molecular alterations in skeletal muscle in rheumatoid arthritis are related to disease activity, physical inactivity, and disability.Arthritis research & therapy · 2017Article
- Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1.Clinical dysmorphology · 2016Article
- Primordial dwarfism: overview of clinical and genetic aspects.Molecular genetics and genomics : MGG · 2016Review
- Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.Nature communications · 2015Article
- Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.RNA (New York, N.Y.) · 2014Article
- Identifying biological pathways that underlie primordial short stature using network analysis.Journal of molecular endocrinology · 2014Article
- Minor class splicing shapes the zebrafish transcriptome during development.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
Abstract
Microcephalic osteodysplastic primordial dwarfism type I (MOPD I) is a rare autosomal recessive developmental disorder characterized by extreme intrauterine growth retardation, severe microcephaly, central nervous system abnormalities, dysmorphic facial features, skin abnormalities, skeletal changes, limb deformations, and early death. Recently, mutations in the RNU4ATAC gene, which encodes U4atac, a small nuclear RNA that is a crucial component of the minor spliceosome, were found to cause MOPD I. MOPD I is the first disease known to be associated with a defect in small nuclear RNAs. We describe here the clinical and molecular data for 17 cases of MOPD I, including 15 previously unreported cases, all carrying biallelic mutations in the RNU4ATAC gene.
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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.