Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
about
Joubert Syndrome and related disordersIndividuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyMutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamicsLiver and kidney disease in ciliopathiesThe role of primary cilia in the development and disease of the retinaNephronophthisis and related syndromesMultiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).CiliopathiesAn ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.Sequential liver-kidney transplantation in a boy with congenital hepatic fibrosis and nephronophthisis from a living donor.Clinical and molecular features of Joubert syndrome and related disorders.Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathiesLights on for aminopeptidases in cystic kidney disease.Normal ciliogenesis requires synergy between the cystic kidney disease genes MKS-3 and NPHP-4.CSPP is a ciliary protein interacting with Nephrocystin 8 and required for cilia formation.Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.Exploring the genetic basis of early-onset chronic kidney disease.TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans.TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.A protocol for the identification and validation of novel genetic causes of kidney diseaseMeckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesisEnhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mappingDifferential Transcriptome Networks between IDO1-Knockout and Wild-Type Mice in Brain Microglia and Macrophages.Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.The Senior-Loken syndrome: Two cases from the State of Qatar.Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.The ciliopathies: a transitional model into systems biology of human genetic disease.Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Mutation spectrum of Joubert syndrome and related disorders among Arabs.Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms.Functional modules, mutational load and human genetic diseaseTargeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.Joubert syndrome: congenital cerebellar ataxia with the molar toothMutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.Centrosomes and cilia in human disease.One gene, many neuropsychiatric disorders: lessons from Mendelian diseases.Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.
P2860
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P2860
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
description
2009 nî lūn-bûn
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2009 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունիսին հրատարակված գիտական հոդված
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2009年の論文
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2009年学术文章
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2009年学术文章
@zh-cn
2009年学术文章
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2009年学术文章
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2009年学术文章
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2009年學術文章
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name
Hypomorphic mutations in mecke ...... with liver fibrosis (NPHP11).
@ast
Hypomorphic mutations in mecke ...... with liver fibrosis (NPHP11).
@en
Hypomorphic mutations in meckelin
@nl
type
label
Hypomorphic mutations in mecke ...... with liver fibrosis (NPHP11).
@ast
Hypomorphic mutations in mecke ...... with liver fibrosis (NPHP11).
@en
Hypomorphic mutations in meckelin
@nl
prefLabel
Hypomorphic mutations in mecke ...... with liver fibrosis (NPHP11).
@ast
Hypomorphic mutations in mecke ...... with liver fibrosis (NPHP11).
@en
Hypomorphic mutations in meckelin
@nl
P2093
P50
P356
P1476
Hypomorphic mutations in mecke ...... s with liver fibrosis (NPHP11)
@en
P2093
F Hildebrandt
G Nürnberg
M T F Wolf
P Nürnberg
P304
P356
10.1136/JMG.2009.066613
P407
P577
2009-06-08T00:00:00Z