The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4
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Title
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4
Authors
Keywords
oculopharyngodistal myopathy, intranuclear inclusion, long-read whole-genome sequencing, CGG repeat expansion, RILPL1, polyG disease, co-regulation
Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
Publisher
Elsevier BV
Online
2022-02-10
DOI
10.1016/j.ajhg.2022.01.012
References
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Related references
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- (2021) Manon Boivin et al. NEURON
- Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing
- (2021) Hiromi Fukuda et al. Clinical Epigenetics
- Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy
- (2020) Jianwen Deng et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 5′ UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy
- (2020) Jianying Xi et al. BRAIN
- CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations
- (2020) Masashi Ogasawara et al. Acta Neuropathologica Communications
- Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders
- (2019) Yun Tian et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease
- (2019) Jun Sone et al. NATURE GENETICS
- Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
- (2019) Hiroyuki Ishiura et al. NATURE GENETICS
- RAB8, RAB10 and RILPL1 contribute to both LRRK2 kinase-mediated centrosomal cohesion and ciliogenesis deficits
- (2019) Antonio Jesús Lara Ordóñez et al. HUMAN MOLECULAR GENETICS
- Long-read sequencing identified repeat expansions in the 5′UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease
- (2019) Jianwen Deng et al. JOURNAL OF MEDICAL GENETICS
- Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor
- (2019) Qi-Ying Sun et al. BRAIN
- Essential phenotypes of NOTCH2NLC-related repeat expansion disorder
- (2019) Ana Westenberger et al. BRAIN
- GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
- (2018) Amy J. LaCroix et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome
- (2017) Chantal Sellier et al. NEURON
- The Rilp-like proteins Rilpl1 and Rilpl2 regulate ciliary membrane content
- (2012) Johanna R. Schaub et al. MOLECULAR BIOLOGY OF THE CELL
- Oculopharyngodistal myopathy is a distinct entity: Clinical and genetic features of 47 patients
- (2011) H. Durmus et al. NEUROLOGY
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