A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS - Wikidata - wikimedia - TriplyDB

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

http://www.wikidata.org/entity/Q34427667

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Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era The nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegans Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.Expansion of phenotype and genotypic data in CRB2-related syndrome A bioactive peptide amidating enzyme is required for ciliogenesis Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.Everolimus Stabilizes Podocyte Microtubules via Enhancing TUBB2B and DCDC2 Expression.The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees.A small molecule screening to detect potential therapeutic targets in human podocytes.Cilia-Associated Genes Play Differing Roles in Aminoglycoside-Induced Hair Cell Death in Zebrafish.The cilium: a cellular antenna with an influence on obesity risk.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.The Hippo pathway is controlled by Angiotensin II signaling and its reactivation induces apoptosis in podocytes.Genomics in the renal clinic - translating nephrogenetics for clinical practice Contribution of the TTC21B gene to glomerular and cystic kidney diseases.Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics Dysfunction of intraflagellar transport proteins beyond the primary cilium.Genomic medicine for kidney disease.Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis.SRGAP2a: A New Player That Modulates Podocyte Cytoskeleton and Injury in Diabetes.Ttc21b Is Required in Bergmann Glia for Proper Granule Cell Radial Migration.Monogenic Causes of Proteinuria in Children.[Cilia and renal cysts].Expanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?

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P2860

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

http://www.wikidata.org/entity/Q34427667

description

2014 nî lūn-bûn

@nan

2014 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի մայիսին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

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2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

@ast

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

@en

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

@nl

type

label

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

@ast

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

@en

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

@nl

prefLabel

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

@ast

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

@en

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

@nl

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Journal of the American Society of Nephrology

P1476

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

@en

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Daouia Iftene

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Emilie Filhol

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Evelyne Huynh Cong

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Flora Silbermann

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Guillaume Canaud

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Jamil Hachicha

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Kais Harzallah

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Laure-Hélène Noel

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Laurent Daniel

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Marie-Noëlle Peraldi

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Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

Ciliogenesis: building the cell's antenna.

Architecture and function of IFT complex proteins in ciliogenesis

Podocin inactivation in mature kidneys causes focal segmental glomerulosclerosis and nephrotic syndrome

THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia

The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking

Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity

Self-inactivating lentivirus vector for safe and efficient in vivo gene delivery.

The actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine A.

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2435-2443

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10.1681/ASN.2013101126

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11

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25

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Corinne Antignac

Christine Bôle-Feysot

Olivier Gribouval

Marie-Claire Gubler

Patrick Nitschké

Géraldine Mollet

Christelle Arrondel

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2014-05-29T00:00:00Z

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24876116

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4214529

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