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。Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases
Laurence Heidet et al.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2010)
Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene
Shay Tzur et al.
HUMAN GENETICS (2010)
Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome
Olivia Boyer et al.
JOURNAL OF MEDICAL GENETICS (2010)
Genotype-Phenotype Correlations in Non-Finnish Congenital Nephrotic Syndrome
Eduardo Machuca et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2010)
The Apolipoprotein L1 (APOL1) Gene and Nondiabetic Nephropathy in African Americans
Barry I. Freedman et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2010)
A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9
Giulio Genovese et al.
KIDNEY INTERNATIONAL (2010)
Exome sequencing identifies the cause of a mendelian disorder
Sarah B. Ng et al.
NATURE GENETICS (2010)
Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis
Elizabeth J. Brown et al.
NATURE GENETICS (2010)
Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans
Giulio Genovese et al.
SCIENCE (2010)
Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure
Martina Zivna et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
New insights into the pathophysiology of idiopathic nephrotic syndrome
Sarah Bruneau et al.
CLINICAL IMMUNOLOGY (2009)
HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting
Shazia Adalat et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2009)
Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis
Rodney D. Gilbert et al.
KIDNEY INTERNATIONAL (2009)
Polymorphisms in the non-muscle myosin heavy chain 9 gene (MYH9) are strongly associated with end-stage renal disease historically attributed to hypertension in African Americans
Barry I. Freedman et al.
KIDNEY INTERNATIONAL (2009)
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis
Sheila Santin et al.
KIDNEY INTERNATIONAL (2009)
Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant
Eduardo Machuca et al.
KIDNEY INTERNATIONAL (2009)
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
Sabina Benko et al.
NATURE GENETICS (2009)
Etv4 and Etv5 are required downstream of GDNF and Ret for kidney branching morphogenesis
Benson C. Lu et al.
NATURE GENETICS (2009)
CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS)
Maddalena Gigante et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2009)
TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis
Sheila Santin et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2009)
UK Renal Registry 11th Annual Report (December 2008): Chapter 4 ESRD prevalent rates in 2007 in the UK: national and centre-specific analyses
Ken Farrington et al.
NEPHRON CLINICAL PRACTICE (2009)
A Novel TRPC6 Mutation That Causes Childhood FSGS
Saskia F. Heeringa et al.
PLOS ONE (2009)
Genetic forms of nephrotic syndrome: a single-center experience in Brussels
Khalid Ismaili et al.
PEDIATRIC NEPHROLOGY (2009)
Long-term outcome of idiopathic steroid-resistant nephrotic syndrome: a multicenter study
Djalila Mekahli et al.
PEDIATRIC NEPHROLOGY (2009)
Trypanosome Lytic Factor, an Antimicrobial High-Density Lipoprotein, Ameliorates Leishmania Infection
Marie Samanovic et al.
PLOS PATHOGENS (2009)
Renal aplasia in humans is associated with RET mutations
Michael A. Skinner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis
Samuel E. Berkovic et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism
Hyun Jin Choi et al.
AMERICAN JOURNAL OF KIDNEY DISEASES (2008)
ApoL1, a BH3-only lipid-binding protein, induces autophagic cell death
Siqin Zhaorigetu et al.
AUTOPHAGY (2008)
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: A recurrent missense mutation associated with BOR
Amit Kochhar et al.
HUMAN MUTATION (2008)
Maternal Environment Interacts with Modifier Genes to Influence Progression of Nephrotic Syndrome
Julien Ratelade et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2008)
SIX2 and BMP4 mutations associate with anomalous kidney development
Stefanie Weber et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2008)
Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome
Bernward Hinkes et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2008)
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome
Aurelie Philippe et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2008)
MYH9 is associated with nondiabetic end-stage renal disease in African Americans
W. H. Linda Kao et al.
NATURE GENETICS (2008)
MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis
Jeffrey B. Kopp et al.
NATURE GENETICS (2008)
Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis
Marije Lowik et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2008)
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome
Saskia F. Heeringa et al.
NEPHROLOGY DIALYSIS TRANSPLANTATION (2008)
Vesico-ureteric reflux and urinary tract development in the Pax21Neu+/- mouse
Inga J. Murawski et al.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2007)
Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation
M. M. Loewik et al.
KIDNEY INTERNATIONAL (2007)
A humanized mouse model of idiopathic nephrotic syndrome suggests a pathogenic role for immature cells
Anne-Laure Sellier-Leclerc et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2007)
COQ2 nephropathy:: A newly described inherited mitochondriopathy with primary renal involvement
Francesca Diomedi-Camassei et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2007)
A common variant of the PAX2 gene is associated with reduced newborn kidney size
Jacklyn Quinlan et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2007)
Familial steroid-sensitive nephrotic syndrome in Southern Israel: clinical and genetic observations
Daniel Landau et al.
PEDIATRIC NEPHROLOGY (2007)
Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys
Stephane Decramer et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (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)
Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community
Yaacov Frishberg et al.
GENETICS IN MEDICINE (2007)
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome
Bethan E. Hoskins et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations
Luis Carlos Lopez et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
Bernward Hinkes et al.
NATURE GENETICS (2006)
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia:: Results of the ESCAPE study
Stefanie Weber et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2006)
The function of apolipoproteins L
B. Vanhollebeke et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2006)
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders
K. Hasselbacher et al.
KIDNEY INTERNATIONAL (2006)
Suppression of ureteric bud apoptosis rescues nephron endowment and adult renal function in Pax2 mutant mice
Alison Dziarmaga et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2006)
Renal phenotypes related to hepatocyte nuclear factor-1β (TCF2) mutations in a pediatric cohort
Tim Ulinski et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2006)
Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9
B Mucha et al.
PEDIATRIC RESEARCH (2006)
The hematopoietic system: a new niche for the renin-angiotensin system
C Hubert et al.
NATURE CLINICAL PRACTICE CARDIOVASCULAR MEDICINE (2006)
Defective planar cell polarity in polycystic kidney disease
E Fischer et al.
NATURE GENETICS (2006)
Mutational and biological analysis of α-actinin-4 in focal segmental glomerulosclerosis
A Weins et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2005)
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis
O Gribouval et al.
NATURE GENETICS (2005)
TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function
J Reiser et al.
NATURE GENETICS (2005)
Formin proteins: a domain-based approach
HN Higgs
TRENDS IN BIOCHEMICAL SCIENCES (2005)
Congenital nephrotic syndrome of Finnish type: detection of new nephrin mutations and prenatal diagnosis in an Italian family
M Gigante et al.
PRENATAL DIAGNOSIS (2005)
Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome
M Sako et al.
KIDNEY INTERNATIONAL (2005)
A transcriptional network in polycystic kidney disease
L Gresh et al.
EMBO JOURNAL (2004)
Clinical spectrum associated with hepatocyte nuclear factor-1β mutations
C Bellanné-Chantelot et al.
ANNALS OF INTERNAL MEDICINE (2004)
Patients with mutations in NPHS2 (Podocin) do not respond to standard steroid treatment of nephrotic syndrome
RG Ruf et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2004)
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence
S Weber et al.
KIDNEY INTERNATIONAL (2004)
The transcription factor Six2 activates expression of the Gdnf gene as well as its own promoter
S Brodbeck et al.
MECHANISMS OF DEVELOPMENT (2004)
Plasma membrane targeting of podocin through the classical exocytic pathway: Effect of NPHS2 mutations
S Roselli et al.
TRAFFIC (2004)
Identification of the first gene locus (SSNS1) for steroid-sensitive nephrotic syndrome on chromosome 2p
RG Ruf et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2003)
Neph1 and nephrin interaction in the slit diaphragm is an important determinant of glomerular permeability
G Liu et al.
JOURNAL OF CLINICAL INVESTIGATION (2003)
Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling
TB Huber et al.
MOLECULAR AND CELLULAR BIOLOGY (2003)
CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility
JM Kim et al.
SCIENCE (2003)
Broadening the spectrum of diseases related to podocin mutations
G Caridi et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2003)
Nephron number in patients with primary hypertension.
G Keller et al.
NEW ENGLAND JOURNAL OF MEDICINE (2003)
Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1β gene:: Description of a new family with associated liver involvement
A Montoli et al.
AMERICAN JOURNAL OF KIDNEY DISEASES (2002)
The apolipoprotein L gene cluster has emerged recently in evolution and is expressed in human vascular tissue
H Monajemi et al.
GENOMICS (2002)
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration
A Koziell et al.
HUMAN MOLECULAR GENETICS (2002)
The GDNF/RET signaling pathway and human diseases
M Takahashi
CYTOKINE & GROWTH FACTOR REVIEWS (2001)
Interaction with podocin facilitates nephrin signaling
TB Huber et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Defective nephrin trafficking caused by missense mutations in the NPHS1 gene:: insight into the mechanisms of congenital nephrotic syndrome
L Liu et al.
HUMAN MOLECULAR GENETICS (2001)
PAX2 mutations in oligomeganephronia
R Salomon et al.
KIDNEY INTERNATIONAL (2001)
Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome
O Beltcheva et al.
HUMAN MUTATION (2001)
A molecular and genetic view of human renal and urinary tract malformations
AS Woolf
KIDNEY INTERNATIONAL (2000)
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
N Boute et al.
NATURE GENETICS (2000)
Bone morphogenetic protein 4 regulates the budding site and elongation of the mouse ureter
Y Miyazaki et al.
JOURNAL OF CLINICAL INVESTIGATION (2000)
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis
JM Kaplan et al.
NATURE GENETICS (2000)
PAX2 suppresses apoptosis in renal collecting duct cells
E Torban et al.
AMERICAN JOURNAL OF PATHOLOGY (2000)
Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice
S Porteous et al.
HUMAN MOLECULAR GENETICS (2000)
分享论文
