Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.
about
SEPTIN12 genetic variants confer susceptibility to teratozoospermiaNovel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis".A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT.Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa.Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probandsMutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosaA single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetranceWhole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.Genetic modifiers and oligogenic inheritance.Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.Epistasis between neurochemical gene polymorphisms and risk for ADHDPRPF4 mutations cause autosomal dominant retinitis pigmentosa.Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease.A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer.
P2860
Q21134713-CD0B4EF0-130B-4F2F-BD97-544C4C070F2DQ33981739-E2BCDEEA-9E74-4C5B-859B-9FBB7BD4EED7Q34328447-C3332CB2-94F0-4607-A0EF-52EA1A1B80CFQ34556666-192D79BF-0C41-40B8-94A0-92E4B17E038AQ35124763-47FD25EC-C42D-4622-9E4F-7A9AB964D609Q35172047-5D9C6B72-CBF3-42B1-89CE-6EA7E5F5F400Q36499782-13C7323D-2400-419B-8C0A-6D9E4B534331Q37187461-AF5AB357-1AA0-4DAD-A0E1-D2C71E939DE2Q37232822-32C5C9CB-B94D-42ED-9F74-5D96217C87F3Q37363961-703B53F2-CEB3-4C45-87FA-496C9109EB9DQ37365488-0E49D0C3-4CED-4169-922C-AA96ED9136B5Q37691934-793CD6C6-7654-4F11-92BB-DEC530E82972Q38076196-291BFB97-D252-49F0-9875-DED412489D21Q38511788-03182217-F978-400D-B6E6-CD7C94B68A31Q38725572-DBD30C92-4A64-4FEA-88DD-2F1962620A6AQ41334187-613C831A-7572-4BC8-8ACD-44DA774A7BE0Q42723005-BE0BCDEF-4B80-4CEA-BBE6-87478EFBAA0BQ43422368-7DE27BF9-8141-43D1-8E5D-AA2C5F486D87Q44850776-8FD1F835-DE95-4528-8AF4-52BC980CB02CQ47555652-DB49A14F-4C8C-4E88-87F1-A9F0AD2B0FC2
P2860
Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.
@en
Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.
@nl
type
label
Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.
@en
Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.
@nl
prefLabel
Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.
@en
Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.
@nl
P2093
P2860
P356
P1476
Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations.
@en
P2093
Adriana Ransijn
Natacha Civic
Thomas Rio Frio
P2860
P304
P356
10.1093/HMG/DDN212
P577
2008-07-18T00:00:00Z