Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
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A complex of BBS1 and NPHP7 is required for cilia motility in zebrafishDCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signalingDefects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansMutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter DevelopmentWnt and planar cell polarity signaling in cystic renal diseaseMutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human DiseaseNephronophthisis and related syndromesMutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndromeMutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent NephronophthisisGenetic testing in steroid-resistant nephrotic syndrome: when and how?Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.Exploring the genetic basis of early-onset chronic kidney disease.Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.SUMOylation Blocks the Ubiquitin-Mediated Degradation of the Nephronophthisis Gene Product Glis2/NPHP7A protocol for the identification and validation of novel genetic causes of kidney diseaseMutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathiesFAT1 mutations cause a glomerulotubular nephropathySimultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report.Mutations in human IFT140 cause non-syndromic retinal degenerationtarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine.IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or NephrocalcinosisUsing Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probandsGenetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.Next-generation sequencing for research and diagnostics in kidney disease.An approach to cystic kidney diseases: the clinician's view.Interaction with the Bardet-Biedl gene product TRIM32/BBS11 modifies the half-life and localization of Glis2/NPHP7.Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.Ciliopathies: Genetics in Pediatric Medicine.
P2860
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P2860
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh
2013年學術文章
@zh-hant
name
Identification of 99 novel mut ...... nophthisis-related ciliopathy.
@ast
Identification of 99 novel mut ...... nophthisis-related ciliopathy.
@en
type
label
Identification of 99 novel mut ...... nophthisis-related ciliopathy.
@ast
Identification of 99 novel mut ...... nophthisis-related ciliopathy.
@en
prefLabel
Identification of 99 novel mut ...... nophthisis-related ciliopathy.
@ast
Identification of 99 novel mut ...... nophthisis-related ciliopathy.
@en
P2093
P2860
P50
P1433
P1476
Identification of 99 novel mut ...... nophthisis-related ciliopathy.
@en
P2093
Friedhelm Hildebrandt
GPN Study Group
Jan Halbritter
Jonathan D Porath
Moumita Chaki
Stefan Kohl
Susan J Allen
P2860
P2888
P304
P356
10.1007/S00439-013-1297-0
P577
2013-04-05T00:00:00Z