The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy

scientific article published on 28 January 2013

The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1041035641
P356DOI10.1186/1750-1172-8-16
P932PMC publication ID3568033
P698PubMed publication ID23356391
P5875ResearchGate publication ID235377899

P50authorFrancesco TestaQ47504178
Sandro BanfiQ56581073
Vincenzo NigroQ37379237
Ivan ConteQ47110956
P2093author name stringGopuraja Dharmalingam
Francesca Simonelli
Margherita Mutarelli
Rob W J Collin
Ivana Peluso
Sara Barbato
Mariarosa A B Melone
Mariateresa Pizzo
Anna Maria Barbarulo
European Retinal Disease Consortium
Carmela Ziviello
Nicola Meola
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Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial diseaseQ24302215
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosaQ24310215
Molecular cloning of a gene encoding a new type of metalloproteinase-disintegrin family protein with thrombospondin motifs as an inflammation associated geneQ24312758
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Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitroQ28260895
Glycosaminoglycan-binding properties and aggrecanase activities of truncated ADAMTSs: comparative analyses with ADAMTS-5, -9, -16 and -18Q28299597
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementQ29147474
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.Q30165144
Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.Q33870288
Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophyQ33948894
miR-204 is required for lens and retinal development via Meis2 targetingQ34100520
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.Q34128761
Identification of ADAMTS18 as a gene mutated in Knobloch syndromeQ34210232
The complexities of ocular geneticsQ34592303
Molecular genetics of Leber congenital amaurosisQ34641603
Next-generation genetic testing for retinitis pigmentosaQ36375321
A review of the ADAMTS family, pharmaceutical targets of the futureQ37550866
The power of homozygosity mapping: discovery of new genetic defects in patients with retinal dystrophyQ37969960
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Proper differentiation of photoreceptors and amacrine cells depends on a regulatory loop between NeuroD and Six6.Q43037278
Comprehensive characterization of the cis-regulatory code responsible for the spatio-temporal expression of olSix3.2 in the developing medaka forebrain.Q43151621
Vax2 regulates retinoic acid distribution and cone opsin expression in the vertebrate eye.Q43538537
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Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier allelesQ46670192
P304page(s)16
P577publication date2013-01-28
P1433published inOrphanet Journal of Rare DiseasesQ15756117
P1476titleThe ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
P478volume8

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cites work (P2860)
Q33851555A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders
Q35541843ADAMTS-18: a metalloproteinase with multiple functions
Q114871954ADAMTS18+ villus tip telocytes maintain a polarized VEGFA signaling domain and fenestrations in nutrient-absorbing intestinal blood vessels
Q90631954ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome
Q37745901Adamts18 deficiency promotes colon carcinogenesis by enhancing β-catenin and p38MAPK/ERK1/2 signaling in the mouse model of AOM/DSS-induced colitis-associated colorectal cancer
Q37502202Adamts18 deletion results in distinct developmental defects and provides a model for congenital disorders of lens, lung, and female reproductive tract development.
Q33790443Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing
Q47214008Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes
Q26853412Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics
Q37595086Molecular pathogenesis and management strategies of ectopia lentis
Q93047706Morphogenesis of the kidney and lung requires branch-tip directed activity of the Adamts18 metalloprotease
Q21146633The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) family
Q26773190The Function and Roles of ADAMTS-7 in Inflammatory Diseases
Q24297224The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18

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