相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。An In Vivo Functional Analysis System for Renal Gene Discovery in Drosophila Pericardial Nephrocytes
Fujian Zhang et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2013)
Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
Moumita Chaki et al.
CELL (2012)
Inducible Podocyte Injury and Proteinuria in Transgenic Zebrafish
Weibin Zhou et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2012)
Knocking Out Podocyte Rho GTPases: And the Winner Is ...
Mark A. Lal et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2012)
Podocyte-Specific Loss of Cdc42 Leads to Congenital Nephropathy
Rizaldy P. Scott et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2012)
Podocyte GTPases regulate kidney filter dynamics
Andreas D. Kistler et al.
KIDNEY INTERNATIONAL (2012)
Mechanisms of the proteinuria induced by Rho GTPases
Liming Wang et al.
KIDNEY INTERNATIONAL (2012)
Integrin α3 Mutations with Kidney, Lung, and Skin Disease
Cristina Has et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome
Fatih Ozaltin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis
Shreeram Akilesh et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
Saskia F. Heeringa et al.
JOURNAL OF CLINICAL INVESTIGATION (2011)
Activation of RhoA in Podocytes Induces Focal Segmental Glomerulosclerosis
Lei Zhu et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2011)
The 'invisible hand': regulation of RHO GTPases by RHOGDIs
Rafael Garcia-Mata et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2011)
MYO1E Mutations and Childhood Familial Focal Segmental Glomerulosclerosis
Caterina Mele et al.
NEW ENGLAND JOURNAL OF MEDICINE (2011)
Mutations in the Human Laminin β2 (LAMB2) Gene and the Associated Phenotypic Spectrum
Verena Matejas et al.
HUMAN MUTATION (2010)
Regulation of Rho GTPase crosstalk, degradation and activity by RhoGDI1
Etienne Boulter et al.
NATURE CELL BIOLOGY (2010)
Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis
Elizabeth J. Brown et al.
NATURE GENETICS (2010)
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
Edgar A. Otto et al.
NATURE GENETICS (2010)
Specific podocin mutations determine age of onset of nephrotic syndrome all the way into adult life
Friedhelm Hildebrandt et al.
KIDNEY INTERNATIONAL (2009)
Targeted capture and massively parallel sequencing of 12 human exomes
Sarah B. Ng et al.
NATURE (2009)
A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations
Friedhelm Hildebrandt et al.
PLOS GENETICS (2009)
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing
Edgar A. Otto et al.
HUMAN MUTATION (2008)
EBV immortalization of human B lymphocytes separated from small volumes of cryo-preserved whole blood
M. M. Amoli et al.
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY (2008)
Accurate whole human genome sequencing using reversible terminator chemistry
David R. Bentley et al.
NATURE (2008)
Modification of mineralocorticoid receptor function by Rac1 GTPase: implication in proteinuric kidney disease
Shigeru Shibata et al.
NATURE MEDICINE (2008)
The actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine A
Christian Faul et al.
NATURE MEDICINE (2008)
Mammalian Rho GTPases:: new insights into their functions from in vivo studies
Sarah J. Heasman et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2008)
Rho GDP dissociation inhibitor α interacts with estrogen receptor α and influences estrogen responsiveness
Saad El Marzouk et al.
JOURNAL OF MOLECULAR ENDOCRINOLOGY (2007)
Contributions of the Transplant Registry: The 2006 Annual Report of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS)
Jodi M. Smith et al.
PEDIATRIC TRANSPLANTATION (2007)
p53 activation by knockdown technologies
Mara E. Robu et al.
PLOS GENETICS (2007)
The spectrum of podocytopathies: A unifying view of glomerular diseases
R. C. Wiggins
KIDNEY INTERNATIONAL (2007)
Nephrotic syndrome in the first year of life: Two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2)
Bernward G. Hinkes et al.
PEDIATRICS (2007)
Actin up: regulation of podocyte structure and function by components of the actin cytoskeleton
Christian Faul et al.
TRENDS IN CELL BIOLOGY (2007)
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
Bernward Hinkes et al.
NATURE GENETICS (2006)
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders
K. Hasselbacher et al.
KIDNEY INTERNATIONAL (2006)
Mechanisms of disease: Hereditary proteinuria syndromes and mechanisms of proteinuria
K Tryggvason et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)
Human laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities
M Zenker et al.
HUMAN MOLECULAR GENETICS (2004)
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
N Boute et al.
NATURE GENETICS (2000)
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis
JM Kaplan et al.
NATURE GENETICS (2000)