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List of genes:

Pubmed

Gene: 

CEP290 (official gene symbol)

Other symbol: 

CEP290

CT family: 

CT87 

CT identifier: 

CT87

Aliases from NCBI:

3H11Ag , FLJ13615 , FLJ21979 , JBTS5 , JBTS6 , KIAA0373 , LCA10 , MKS4 , NPHP6 , rd16 , SLSN6

23 records found.
2 pages with 20 records each.
Show page 2 of 2.
   

ARTICLE DATE PUBMED ID TITLE GENES
1 11/01/2007 17554762 Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.
  Mutations in the centrosomal-ciliary gene CEP290/NPHP6 are associated with Joubert syndrome and are the most common cause of the childhood recessive blindness known as Leber congenital amaurosis (LCA)...
2 10/25/2007 17964524 Leber Congenital Amaurosis-A Model for Efficient Genetic Testing of Heterogeneous Disorders: LXIV Edward Jackson Memorial Lecture.
  PURPOSE: To critically evaluate our experience in molecular testing of Leber congenital amaurosis (LCA) and to use this information to devise a general approach to heterogeneous recessive disorders. C...
3 10/24/2007 17960139 Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.
  Joubert syndrome (JS) is an autosomal recessive disorder, consisting of mental retardation, cerebellar vermis aplasia, an irregular breathing pattern, and retinal degeneration. Nephronophthisis (NPHP)...
4 10/06/2007 18054307 DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.
  Joubert syndrome (JBS) is a clinically variable and genetically heterogeneous developmental brain disorder with autosomal recessive inheritance. Five genes, AHI1, NPHP1, CEP290, MKS3, and RPGRIP1L, an...
5 10/02/2007 17898177 Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons.
  Cilia regulate diverse functions such as motility, fluid balance, and sensory perception. The cilia of olfactory sensory neurons (OSNs) compartmentalize the signaling proteins necessary for odor detec...
6 10/01/2007 17617513 Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.
  BACKGROUND: Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease that constitutes the most common genetic cause of renal failure in the first three decades of life. Using positional...
7 09/01/2007 17724218 Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
  PURPOSE: To identify the molecular basis of Leber's congenital amaurosis (LCA) in a cohort of Italian patients and to perform genotype-phenotype analysis. METHODS: DNA samples from 95 patients with LC...
8 08/17/2007 17705300 Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
  Meckel-Gruber syndrome (MKS) is an autosomal recessive, lethal multisystemic disorder characterized by meningooccipital encephalocele, cystic kidney dysplasia, hepatobiliary ductal plate malformation,...
9 07/01/2007 17564974 Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.
  Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations, polydactyly, multicystic kidney dysplasia, and ductal changes of the liver. ...
10 07/01/2007 17564967 CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
  Joubert syndrome-related disorders (JSRDs) are a group of clinically and genetically heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign (MTS) visible on brain ...
11 07/01/2007 17558409 The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
  Cerebello-oculo-renal syndrome (CORS), also called Joubert syndrome type B, and Meckel (MKS) syndrome belong to the group of developmental autosomal recessive disorders that are associated with primar...
12 05/01/2007 17507457 Mutation in CEP290 discovered for cat model of human retinal degeneration.
  A mutation in the CEP290 gene is reported in a cat pedigree segregating for autosomal recessive (AR) late-onset photoreceptor degeneration (rdAc). An initial screen of 39 candidate genes and genomic l...
13 05/01/2007 17409309 High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
  Joubert syndrome (JS) is an autosomal recessive disorder that is described in patients with cerebellar ataxia, mental retardation, hypotonia, and neonatal respiratory dysregulation. Kidney involvement...
14 05/01/2007 17377524 Joubert syndrome (and related disorders) (OMIM 213300).
  Joubert syndrome (JS) and related disorders are characterized by the 'molar tooth sign' (cerebellar vermis hypoplasia and brainstem anomalies) on MRI, hypotonia, developmental delay, ataxia, irregular...
15 04/01/2007 17345604 Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
  Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration responsible for congenital blindness. Hitherto, 13 LCA genes have been mapped, nine of which have been identified....
16 01/01/2007 18079693 Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.
  PURPOSE: Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset. To date, eleven genes have been reported to cause the non-syndromic LCA phenotype. Th...
17 01/01/2007 17160906 The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
  Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia associated with hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye m...
18 12/01/2006 17148037 Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis.
  Clarification and classification of the congenital form of blindness known as Leber congenital amaurosis (LCA) continues to provide its challenges and dilemmas. Until recently, seven genes have been i...
19 09/01/2006 16909394 Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
  Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been described, which together account for approximately 45% of LCA cases. We ...
20 06/01/2006 16682973 The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
  The molecular basis of nephronophthisis, the most frequent genetic cause of renal failure in children and young adults, and its association with retinal degeneration and cerebellar vermis aplasia in J...