LMX1B mutations cause hereditary FSGS without extrarenal involvement
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Genes and podocytes - new insights into mechanisms of podocytopathyMutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilizationScreening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.Genetic testing in steroid-resistant nephrotic syndrome: when and how?Phenotypic expansion of DGKE-associated diseasesSpectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].Human Urine-Derived Renal Progenitors for Personalized Modeling of Genetic Kidney Disorders.Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severitySteroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.The Genetics of Nephrotic Syndrome.Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation.Genetics of hereditary nephrotic syndrome: a clinical review.Whole exome sequencing: a state-of-the-art approach for defining (and exploring!) genetic landscapes in pediatric nephrology.The expanding phenotypic spectra of kidney diseases: insights from genetic studies.Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.Genomics in the renal clinic - translating nephrogenetics for clinical practiceA novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding.An expanding universe of FSGS genes and phenotypes: LMX1B mutations cause familial autosomal dominant FSGS lacking extrarenal manifestations.Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS.Hereditary Podocytopathies in Adults: The Next Generation.Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis.Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.A Drosophila model system to assess the function of human monogenic podocyte mutations that cause nephrotic syndrome.Monogenic Causes of Proteinuria in Children.Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathyProteinuric Kidney Diseases: A Podocyte's Slit Diaphragm and Cytoskeleton Approach
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P2860
LMX1B mutations cause hereditary FSGS without extrarenal involvement
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 16 May 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
LMX1B mutations cause hereditary FSGS without extrarenal involvement
@en
LMX1B mutations cause hereditary FSGS without extrarenal involvement.
@nl
type
label
LMX1B mutations cause hereditary FSGS without extrarenal involvement
@en
LMX1B mutations cause hereditary FSGS without extrarenal involvement.
@nl
prefLabel
LMX1B mutations cause hereditary FSGS without extrarenal involvement
@en
LMX1B mutations cause hereditary FSGS without extrarenal involvement.
@nl
P2093
P2860
P50
P356
P1476
LMX1B mutations cause hereditary FSGS without extrarenal involvement
@en
P2093
Amy J Damask
Bolan Linghu
Edward J Oakeley
François Chantrel
Françoise Heibel
Jacqueline Champigneulle
Joseph D Szustakowski
José S Duca
Laurent Martin
P2860
P304
P356
10.1681/ASN.2013020171
P50
P577
2013-05-16T00:00:00Z