Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

No abstract is available for this paper.

• Publication year

  2010

• Venue

  Journal of Medical Genetics

• Publication date

  2010-11-10

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1136/jmg.2010.082552PMID 21068128PMCID PMC3913043
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

  2011cited by this paper
• Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

  2010cited by this paper
• Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

  2010influential reference
• MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

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• Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies

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• Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

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• Clinical and molecular features of Joubert syndrome and related disorders

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• Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

  2009influential reference
• CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

  2008cited by this paper
• Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

  2008cited by this paper
• Nested Patch PCR enables highly multiplexed mutation discovery in candidate genes.

  2008cited by this paper
• Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.

  2008cited by this paper
• NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis.

  2008cited by this paper
• Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

  2008influential reference
• Nephronophthisis-associated ciliopathies.

  2007cited by this paper
• Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

  2007cited by this paper
• The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

  2007influential reference
• Molecular diagnostics of Meckel–Gruber syndrome highlights phenotypic differences between MKS1 and MKS3

  2007cited by this paper
• Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

  2007influential reference
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  2007cited by this paper
• Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

  2007cited by this paper
• 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.

  2007cited by this paper
• Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.

  2007cited by this paper
• The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.

  2007influential reference
• The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat

  2006cited by this paper
• Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

  2006cited by this paper
• The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

  2006cited by this paper
• MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

  2006cited by this paper
• Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

  2005cited by this paper
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  2005influential reference
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  2004cited by this paper
• The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.

  2004cited by this paper
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  2003influential reference
• Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

  2003cited by this paper
• The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

  2002cited by this paper
• The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin

  2002cited by this paper
• A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

  2002cited by this paper
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  2002cited by this paper
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  1997cited by this paper
• Shotgun DNA sequencing using cloned DNase I-generated fragments

  1981cited by this paper
• MUTATION IN BRIEF

  year unknowncited by this paper

• Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis

  2025cites this paper
• Renal ciliopathies.

  2025cites this paper
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  2025cites this paper
• Joubert Syndrome and the AHI1 p.Gln981Glu Variant: A Molecular and Clinical Study

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• Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review.

  2024cites this paper
• Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants

  2024cites this paper
• Novel mutation in XPNPEP3 in a patient with heart failure without nephronophthisis-like nephropathy (NPHPL1): case report and literature review

  2024cites this paper
• Case report of visual quality in a patient with nephronophthisis 12- associated retinopathy secondary to TTC21B mutation

  2024cites this paper
• Two functional forms of the Meckel-Gruber syndrome protein TMEM67 generated by proteolytic cleavage by ADAMTS9 mediate Wnt signaling and ciliogenesis

  2024cites this paper
• Cilia and Cancer: From Molecular Genetics to Therapeutic Strategies

  2023cites this paper
• A Role for Genetic Modifiers in Tubulointerstitial Kidney Diseases

  2023cites this paper
• Mutational burden of XPNPEP3 leads to defects in mitochondrial complex I and cilia in NPHPL1

  2023cites this paper
• Mitochondrial Protein Homeostasis and Cardiomyopathy

  2022cites this paper
• Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family

  2022cites this paper
• Biallelic variants in TTC21B as a rare cause of early‐onset arterial hypertension and tubuloglomerular kidney disease

  2022cites this paper
• Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease

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• Clinical Genetic Testing in Children with Kidney Disease

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• Retinal dystrophy as part of TTC21B-associated ciliopathy

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  2020cites this paper
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  2020cites this paper
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• [Clinical features and TTC21B genotype of a child with nephronophthisis type 12].

  2019cites this paper
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  2019cites this paper
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  2018cites this paper
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  2018cites this paper
• Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation

  2018cites this paper
• Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion-related nephronophthisis on renal biopsy.

  2018cites this paper
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  2018cites this paper
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  2018cites this paper
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  2018cites this paper
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  2018cites this paper
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  2018cites this paper
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  2018cites this paper
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