Associated Papers
Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.
Liu J et al.
Science Advances, 2025
Transgenic human nephrin in Drosophila nephrocytes facilitates variant analysis.
Wolff JM et al.
Kidney International, 2025
What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management.
Mitrotti A et al.
International Journal of Molecular Sciences, 2024
A novel heterozygous mutation of the NPHS1 gene in a Chinese child with congenital nephrotic syndrome: A case report.
Xie D et al.
Medicine, 2023
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Genomic characterization of lymphomas in patients with inborn errors of immunity.
Ye X et al.
Blood Advances, 2022
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
Vaisitti T et al.
Journal of Nephrology, 2021
Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.
Stanzick KJ et al.
Nature Communications, 2021
Genetic Variations and Clinical Features of NPHS1-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study.
Rong L et al.
Frontiers in Medicine, 2021
Pharmacogenomics of Hypertension Treatment.
Rysz J et al.
International Journal of Molecular Sciences, 2020
[A case of severe congenital nephrotic syndrome secondary to NPHS1 mutation].
Quiros A et al.
Revue Medicale De Liege, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
A comprehensive analysis of NPHS1 gene mutations in patients with sporadic focal segmental glomerulosclerosis.
Zhuo L et al.
Bmc Medical Genetics, 2019
The Role of p.Ser1105Ser (in NPHS1 Gene) and p.Arg548Leu (in PLCE1 Gene) with Disease Status of Vietnamese Patients with Congenital Nephrotic Syndrome: Benign or Pathogenic?
Thi Kim Lien N et al.
Medicina (kaunas, Lithuania), 2019
Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome.
Li GM et al.
Bmc Nephrology, 2018
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome.
Nguyen TK et al.
Case Reports in Genetics, 2017
Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome.
Yang F et al.
Journal of Genetics, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Pharmacogenomics of hypertension: a genome‐wide, placebo‐controlled cross‐over study, using four classes of antihypertensive drugs.
Hiltunen TP et al.
Journal of the American Heart Association, 2015
Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome.
Fu R et al.
Genetics and Molecular Research : Gmr, 2015
Does NPHS1 polymorphism modulate P118l mutation in NPHS2?
Dincel N et al.
Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 2013
Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.
Joshi S et al.
Acta Paediatrica (oslo, Norway : 1992), 2013
Glomerulopathy and mutations in NPHS1 and KIRREL2 in soft-coated Wheaten Terrier dogs.
Littman MP et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2013
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.
McCarthy HJ et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
Abid A et al.
Gene, 2012
[Correlation between Chinese medicine syndromes and the NPHS1 gene and NPHS2 gene polymorphism as well as corticosteroid sensitivity in patients with minimal change disease].
Luo YZ et al.
Zhongguo Zhong Xi Yi Jie He Za Zhi Zhongguo Zhongxiyi Jiehe Zazhi = Chinese Journal of Integrated Traditional and Western Medicine, 2012
Association between lymphotoxin beta receptor gene polymorphisms and IgA nephropathy in Korean children.
Kim SK et al.
Immunological Investigations, 2012
Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.
Wu LQ et al.
Genetics and Molecular Research : Gmr, 2011
[Updates on the molecular genetics of congenital nephrotic syndrome].
Zhang HW et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
Santín S et al.
Kidney International, 2009
Long-term outcome of biopsy-proven, frequently relapsing minimal-change nephrotic syndrome in children.
Kyrieleis HA et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2009
NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome.
Aya K et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2009
[Association of NPHS1 gene polymorphism with IgA nephropathy].
Yu L et al.
Zhonghua Yi Xue Za Zhi, 2009
Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism.
Choi HJ et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2008
Lack of association between NPHS2 gene polymorphisms and sporadic IgA nephropathy.
Mao J et al.
Nephrology (carlton, Vic.), 2007
[NPHS1 mutations in a Chinese family with congenital nephrotic syndrome].
Shi Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005
Clinical features and outcome of childhood minimal change nephrotic syndrome: is genetics involved?
Lahdenkari AT et al.
Pediatric Nephrology (berlin, Germany), 2005
Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome.
Sako M et al.
Kidney International, 2005
Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS).
Lahdenkari AT et al.
Kidney International, 2004
Genetic polymorphism of NPHS1 modifies the clinical manifestations of Ig A nephropathy.
Narita I et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2003
Polymorphisms in the nephrin gene and diabetic nephropathy in type 1 diabetic patients.
Pettersson-Fernholm K et al.
Kidney International, 2003
Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
Liu L et al.
Human Molecular Genetics, 2001
Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.
Beltcheva O et al.
Human Mutation, 2001
Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.
Patrakka J et al.
Kidney International, 2000