Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

By M. Eriksson, W. Brown, L. Gordon, M. W. Glynn, J. Singer, L. Scott, M. Erdos, C. Robbins, T. Moses, Peter Berglund and 7 more. Nature, 2003

2,182 citations recorded by the source corpus.

Subfields: Molecular Biology

View Paper: https://www.semanticscholar.org/paper/045f5328db687295f857f5c2d5d88d1d9f2c4b3d

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In Molecular Biology

Citations in the corpus

Human Ageing Genomic Resources: new and updated databases (2017, background): “Examples of these include WRN, the mutation of which results in Werner syndrome, possibly the most dramatic progeroid syndrome (5), LMNA, the mutation of which leads to Hutchinson-Gilford’s progeroid syndrome (6), and SIRT1, linked to several processes involved in ageing (7) (Figure 1).”
Telomeres and aging. (2008, background): “Perhaps phenotypically the most striking segmental aging genetic disorder in humans, Hutchinson-Gilford Progeria syndrome (HGPS), is caused by point mutations in lamin A, a key component of nuclear scaffolding (34, 72).”
Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin. (2008, neutral): “Besides the 1824 C > T mutation, three other HGPS mutations, 1822 G > A, 1821 G > A, and 1968 + 1 G > A, result in the same abnormal splicing event (Fig. 2A; Eriksson et al. 2003; Moulson et al. 2007).”
"Laminopathies": a wide spectrum of human diseases. (2007, background): “Arguably the most dramatic disease phenotype caused by mutation in LMNA is HutchinsonGilford progeria syndrome [55,56].”
Aging Hematopoietic Stem Cells Decline in Function and Exhibit Epigenetic Dysregulation (2007, background): “For instance, lamin A declined with age and is linked to normal human aging [42] and Hutchinson-Gilford progeria [43] (Table 1).”
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing (2016, positive): “Analysis of cDNA of single genes has proven useful on a case-by-case basis to provide diagnoses to patients with Mendelian disorders (10-13), and RNA-seq has previously been used to observe the effect of pathogenic variants which were identified through DNA sequencing (14, 15).”
The hallmarks of aging. (2013, background): “The nuclear lamina attracted the attention of aging researchers after the discovery that mutations in genes encoding protein components of this structure, or factors affecting their maturation and dynamics, cause accelerated aging syndromes such as theHutchinson-Gilford and the Néstor-Guillermo prog”
Lamin B1 loss is a senescence-associated biomarker (2012, methodology): “Mice were treated and mRNA was collected and analyzed as described in Figure 4F.”