about
A systematic approach to mapping recessive disease genes in individuals from outbred populationsMutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeSIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexesExome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingNephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulinMutations in EMP2 cause childhood-onset nephrotic syndromeCandidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyIndividuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyMapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathwaysA gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolutionNEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisisA common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathiesMutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosisDCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signalingZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversibleThe kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypesThe centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansMapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromesCC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouseTranscription factor SIX5 is mutated in patients with branchio-oto-renal syndromeA transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotypeGenetic and physical interaction between the NPHP5 and NPHP6 gene productsMutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determinationA novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndromeAHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisisLoss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosisMYO1E mutations and childhood familial focal segmental glomerulosclerosis.Nephronophthisis: disease mechanisms of a ciliopathy.Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathiesRapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.Mutations of CEP83 cause infantile nephronophthisis and intellectual disabilityMapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patientFAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
P50
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P50
description
hulumtues
@sq
onderzoeker
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researcher
@en
հետազոտող
@hy
name
Edgar A Otto
@nl
Edgar A Otto
@sl
Edgar A. Otto
@en
Edgar A. Otto
@es
Edgar Otto
@fr
type
label
Edgar A Otto
@nl
Edgar A Otto
@sl
Edgar A. Otto
@en
Edgar A. Otto
@es
Edgar Otto
@fr
altLabel
Edgar A. Otto
@en
prefLabel
Edgar A Otto
@nl
Edgar A Otto
@sl
Edgar A. Otto
@en
Edgar A. Otto
@es
Edgar Otto
@fr
P106
P1153
56377574800
7005083243
P21
P31
P496
0000-0002-2387-9973