Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing

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Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing is …
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scholarly articleQ13442814

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P6179Dimensions Publication ID1012925226
P356DOI10.1186/GM488
P932PMC publication ID4066589
P698PubMed publication ID24112618

P50authorAnand SwaroopQ30506132
Rinki RatnapriyaQ83230798
P2860cites workMutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degenerationQ24624430
Evolution of the vertebrate eye: opsins, photoreceptors, retina and eye cupQ24629683
Paired-end mapping reveals extensive structural variation in the human genomeQ24653260
Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implicationsQ24681724
Exome sequencing and complex disease: practical aspects of rare variant association studiesQ27027055
Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoformQ27347938
Sequencing technologies - the next generationQ27860568
Alternative isoform regulation in human tissue transcriptomesQ27861118
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosaQ28139362
Extremely discordant sib-pair study design to determine risk factors for neovascular age-related macular degenerationQ28168194
Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophyQ28236562
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19Q28251106
A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degenerationQ28265296
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophyQ28271973
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosisQ28271982
Genetic mapping and exome sequencing identify variants associated with five novel diseasesQ28478905
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisisQ28509528
The noncoding RNA taurine upregulated gene 1 is required for differentiation of the murine retinaQ28589446
Cis-regulatory elements: molecular mechanisms and evolutionary processes underlying divergenceQ29032100
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophyQ29144258
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementQ29147474
Seven new loci associated with age-related macular degenerationQ29416998
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencingQ29614576
CiliopathiesQ29614821
RNA processing and its regulation: global insights into biological networksQ29615182
Exome sequencing as a tool for Mendelian disease gene discoveryQ29615382
Common and rare variants in multifactorial susceptibility to common diseasesQ29616282
Computational neuroanatomy of speech production.Q30360356
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathyQ33645942
DNA methylation is associated with altered gene expression in AMD.Q33939754
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic dataQ33995474
Human photoreceptor topographyQ34034782
A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degenerationQ34055667
Exome sequencing identifies ZNF644 mutations in high myopiaQ21092428
The long noncoding RNA Six3OS acts in trans to regulate retinal development by modulating Six3 activityQ21203074
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindnessQ21710708
Genetic diagnosis by whole exome capture and massively parallel DNA sequencingQ22066282
Fine-scale structural variation of the human genomeQ22122044
An integrated encyclopedia of DNA elements in the human genomeQ22122150
An integrated map of genetic variation from 1,092 human genomesQ22122153
Finding the missing heritability of complex diseasesQ22122198
Are rare variants responsible for susceptibility to complex diseases?Q22337172
Molecular genetics of human color vision: the genes encoding blue, green, and red pigmentsQ24294339
Natural antisense transcripts associated with genes involved in eye developmentQ24294557
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingQ24294774
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneQ24299114
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyQ24299464
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindnessQ24305072
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisQ24309344
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesQ24309499
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndromeQ24309592
Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosaQ24320041
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophyQ24324625
Complement factor H polymorphism in age-related macular degenerationQ24553334
NMNAT1 mutations cause Leber congenital amaurosisQ24594444
RNA-Seq: a revolutionary tool for transcriptomicsQ24596169
Targeted capture and massively parallel sequencing of 12 human exomesQ24615381
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degenerationQ24622351
Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degenerationQ36311846
Next-generation genetic testing for retinitis pigmentosaQ36375321
Genetic mechanisms and age-related macular degeneration: common variants, rare variants, copy number variations, epigenetics, and mitochondrial geneticsQ36405448
Genetic studies of age-related macular degeneration: lessons, challenges, and opportunities for disease managementQ36445951
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3Q36455759
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative diseaseQ36467228
Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteinsQ36585455
Pre-mRNA splicing and retinitis pigmentosaQ36655877
Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosaQ36683600
Genome-wide analysis of copy number variants in age-related macular degenerationQ36732124
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosisQ36762773
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variantsQ36913464
Targeted RNA sequencing reveals the deep complexity of the human transcriptomeQ37009455
Exome sequencing and the genetic basis of complex traitsQ37056084
Genome-wide approaches to studying chromatin modificationsQ37077306
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosaQ37083413
Clinical features of the congenital vitreoretinopathiesQ37097868
eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testingQ37276434
Photoreceptor degeneration: genetic and mechanistic dissection of a complex traitQ37704937
The molecular basis of human retinal and vitreoretinal diseasesQ37723484
The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disordersQ37767242
Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retinaQ37774553
Retinal progenitor cells, differentiation, and barriers to cell cycle reentryQ37801482
Genome structural variation discovery and genotypingQ37848057
A systems-biology approach to understanding the ciliopathy disordersQ37937749
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlationQ37952620
Detection of mammalian microRNA expression by in situ hybridization with RNA oligonucleotidesQ40273519
CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.Q41334187
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophyQ42265747
CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptorsQ42398472
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypesQ42648973
ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotypeQ43119618
A functional variant in the CFI gene confers a high risk of age-related macular degenerationQ47073487
MicroRNA (miRNA) transcriptome of mouse retina and identification of a sensory organ-specific miRNA clusterQ48123763
Human copy number variation and complex genetic disease.Q50309527
Using next-generation sequencing for the diagnosis of rare disorders: a family with retinitis pigmentosa and skeletal abnormalities.Q50515711
Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.Q51555279
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.Q51792855
Exome Sequencing: Capture and Sequencing of All Human Coding Regions for Disease Gene DiscoveryQ64457400
Deletion of CFHR3 and CFHR1 genes in age-related macular degenerationQ80209360
The fundamental plan of the retinaQ34088683
Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening ConsortiumQ34142148
The study of eQTL variations by RNA-seq: from SNPs to phenotypesQ34152797
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosaQ34162709
Modifier genes in mice and humansQ34188131
Cell-specific DNA methylation patterns of retina-specific genesQ34189565
Identification of ADAMTS18 as a gene mutated in Knobloch syndromeQ34210232
Transcriptional regulation of rod photoreceptor homeostasis revealed by in vivo NRL targetome analysisQ34236670
Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucomaQ34263078
Common genetic determinants of intraocular pressure and primary open-angle glaucomaQ34263126
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genesQ34308697
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindnessQ34318093
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 lociQ34342489
Mapping determinants of human gene expression by regional and genome-wide associationQ34421244
Splicing in disease: disruption of the splicing code and the decoding machineryQ34582131
Genetic modifiers of vision and hearingQ34641632
Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencingQ34646786
DICER1 deficit induces Alu RNA toxicity in age-related macular degenerationQ34796058
Genome-wide meta-analysis for severe diabetic retinopathyQ34994806
Applications of new sequencing technologies for transcriptome analysis.Q35000125
Copy number variations in candidate genes in neovascular age-related macular degenerationQ35027522
Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosisQ35103796
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.Q35161651
Rare and common variants: twenty argumentsQ35533255
Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerationsQ35550545
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucomaQ35569618
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.Q35577472
MicroRNA-204/211 alters epithelial physiologyQ35595622
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophyQ35595744
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retinaQ35603281
Dicer inactivation leads to progressive functional and structural degeneration of the mouse retinaQ35886487
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)Q36122430
What's in a name? RPGR mutations redefine the genetic and phenotypic landscape in retinal degenerative diseasesQ36159540
P433issue10
P304page(s)84
P577publication date2013-10-11
P1433published inGenome MedicineQ15816848
P1476titleGenetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing
P478volume5

Reverse relations

cites work (P2860)
Q35539015Application of quantitative trait locus mapping and transcriptomics to studies of the senescence-accelerated phenotype in rats.
Q92301841Applications of Genomic Technologies in Retinal Degenerative Diseases
Q28084726Biology and therapy of inherited retinal degenerative disease: insights from mouse models
Q92404834IL-1 Family Members Mediate Cell Death, Inflammation and Angiogenesis in Retinal Degenerative Diseases
Q36500822Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa
Q91744586Induced pluripotent stem cells and derivative photoreceptor precursors as therapeutic cells for retinal degenerations
Q38631503Investigation of associations of ARMS2, CD14, and TLR4 gene polymorphisms with wet age-related macular degeneration in a Greek population.
Q37462050Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing
Q38384010Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies
Q26746206Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research
Q36231506Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing
Q97516720Small-Medium Extracellular Vesicles and Their miRNA Cargo in Retinal Health and Degeneration: Mediators of Homeostasis, and Vehicles for Targeted Gene Therapy
Q91677253Systematic review of differential methylation in rare ophthalmic diseases
Q42774910Transcriptome profiling of NIH3T3 cell lines expressing opsin and the P23H opsin mutant identifies candidate drugs for the treatment of retinitis pigmentosa
Q35470460Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease

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