Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome
出版年份 2014 全文链接
标题
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome
作者
关键词
-
出版物
NATURE GENETICS
Volume 46, Issue 3, Pages 299-304
出版商
Springer Nature
发表日期
2014-02-10
DOI
10.1038/ng.2898
参考文献
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。- NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis
- (2013) Andrea Kerti et al. PEDIATRIC NEPHROLOGY
- NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome
- (2012) Andrea Kerti et al. PEDIATRIC NEPHROLOGY
- Clinical Utility of Genetic Testing in Children and Adults with Steroid-Resistant Nephrotic Syndrome
- (2011) S. Santin et al. Clinical Journal of the American Society of Nephrology
- Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis
- (2011) Shreeram Akilesh et al. JOURNAL OF CLINICAL INVESTIGATION
- Screening for NPHS2 Mutations May Help Predict FSGS Recurrence after Transplantation
- (2011) T. C. Jungraithmayr et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- MYO1EMutations and Childhood Familial Focal Segmental Glomerulosclerosis
- (2011) Caterina Mele et al. NEW ENGLAND JOURNAL OF MEDICINE
- Clinical Value of NPHS2 Analysis in Early- and Adult-Onset Steroid-Resistant Nephrotic Syndrome
- (2010) S. Santin et al. Clinical Journal of the American Society of Nephrology
- Immunosuppression and Renal Outcome in Congenital and Pediatric Steroid-Resistant Nephrotic Syndrome
- (2010) A. K. Buscher et al. Clinical Journal of the American Society of Nephrology
- Implementation of the CHARMM Force Field in GROMACS: Analysis of Protein Stability Effects from Correction Maps, Virtual Interaction Sites, and Water Models
- (2010) Pär Bjelkmar et al. Journal of Chemical Theory and Computation
- Genotype-Phenotype Correlations in Non-Finnish Congenital Nephrotic Syndrome
- (2010) E. Machuca et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations
- (2010) Geneviève Benoit et al. PEDIATRIC NEPHROLOGY
- Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children
- (2010) Ibtihel Benhaj Mbarek et al. PEDIATRIC NEPHROLOGY
- Nucleotide Variations in the NPHS2 Gene in Greek Children with Steroid-Resistant Nephrotic Syndrome
- (2009) Spyridon Megremis et al. Genetic Testing and Molecular Biomarkers
- Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant
- (2009) Eduardo Machuca et al. KIDNEY INTERNATIONAL
- A novel mutation in NPHS2 gene identified in a Chinese pedigree with autosomal recessive steroid-resistant nephrotic syndrome
- (2009) Hua Sun et al. PATHOLOGY
- Long-term outcome of idiopathic steroid-resistant nephrotic syndrome: a multicenter study
- (2009) Djalila Mekahli et al. PEDIATRIC NEPHROLOGY
- The Association of Podocin R229Q Polymorphism With Increased Albuminuria or Reduced Estimated GFR in a Large Population-Based Sample of US Adults
- (2008) Anna Köttgen et al. AMERICAN JOURNAL OF KIDNEY DISEASES
- GROMACS 4: Algorithms for Highly Efficient, Load-Balanced, and Scalable Molecular Simulation
- (2008) Berk Hess et al. Journal of Chemical Theory and Computation
- Specific Podocin Mutations Correlate with Age of Onset in Steroid-Resistant Nephrotic Syndrome
- (2008) B. Hinkes et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Steroid-resistant nephrotic syndrome
- (2008) Akiko Kitamura et al. KIDNEY INTERNATIONAL
- CC+: a relational database of coiled-coil structures
- (2008) O. D. Testa et al. NUCLEIC ACIDS RESEARCH
- Genetic forms of nephrotic syndrome: a single-center experience in Brussels
- (2008) Khalid Ismaili et al. PEDIATRIC NEPHROLOGY
- NPHS2 screening with SURVEYOR in Hellenic children with steroid-resistant nephrotic syndrome
- (2008) Konstantinos Voskarides et al. PEDIATRIC NEPHROLOGY
- NPHS2variation in focal and segmental glomerulosclerosis
- (2008) Stephen J Tonna et al. BMC Nephrology
- Crystal Structure of a Core Domain of Stomatin from Pyrococcus horikoshii Illustrates a Novel Trimeric and Coiled-Coil Fold
- (2007) Hideshi Yokoyama et al. JOURNAL OF MOLECULAR BIOLOGY
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now