scholarly journals In Silico Analysis of NPHS1 Gene Mutations Identified in Patients with Steroid Resistant Nephrotic Syndrome

2017 ◽  
Vol 2 (5) ◽  
Author(s):  
Shagufta Khaliq
Keyword(s):  
Nephrotic Syndrome ◽  
In Silico ◽  
Gene Mutations ◽  
In Silico Analysis ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Nphs1 Gene ◽  
Silico Analysis

In silico analysis of functional nsSNPs in human TRPC6 gene associated with steroid resistant nephrotic syndrome

Gene ◽  
2015 ◽  
Vol 572 (1) ◽  
pp. 8-16 ◽  
Author(s):  
Bhoomi B. Joshi ◽  
Prakash G. Koringa ◽  
Kinnari N. Mistry ◽  
Amrut K. Patel ◽  
Sishir Gang ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
In Silico ◽  
In Silico Analysis ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Silico Analysis

scholarly journals NPHS2 gene mutation, atopy, and gender as risk factors for steroid-resistant nephrotic syndrome in Indonesians

2011 ◽  
Vol 51 (5) ◽  
pp. 272 ◽  
Author(s):  
Dedi Rachmadi ◽  
Danny Hilmanto ◽  
Ponpon Ijradinata ◽  
Abdurahman Sukadi
Keyword(s):  
Risk Factors ◽  
Nephrotic Syndrome ◽  
Gene Mutation ◽  
Significant Risk ◽  
Gene Mutations ◽  
Male Gender ◽  
Amplification Refractory Mutation System ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Nphs2 Gene

Background Steroid-resistant nephrotic syndrome (SRNS) often develops into end stage renal disease. Previous studies have reported that NPHS2 gene mutation, gender, and atopic history are risk factors associated with SRNS. Interethnic, sociocultural, and environmental differences have also been suggested to affect these mutations.Objective To analyze possible risk factors for SRNS, including NPHS2 gene mutations (412C→T and 419delG), gender and atopic history, in Indonesian subjects with SRNS.Methods A case-control study with 153 subjects, consisting of 88 SRNS patients and 65 control subjects, was undertaken in 10 Indonesian teaching centre hospitals from September 2006 to December 2007. Analysis of the NPHS2 gene mutation in 412 C→T was performed by amplification refractory mutation system-polymerase chain reaction (ARMS-PCR), while that for the NPHS2 gene mutation in 419delG was performed by restriction fragment length polymorphism (RFLP). Data was analyzed by multiple logistic regression.Results In our Indonesian subjects, the significant risk factors for SRNS were male gender (OR=2.21; CI 95%:1.07-4.56, P=0.036), NPHS2 412C→T gene mutation (OR=18.07; CI 95%:6.76-48.31, P<0.001), and NPHS2 419delG gene mutation (OR=4.55; CI 95%:1.66-12.47, P=0.003). However, atopic history was not a significant risk factor for SRNS (OR=1.807; CI 95%:0.642-5.086, P=0.262).Conclusion NPHS2 412C→T and 419delG gene mutations, as well as male gender are risk factors for SRNS in Indonesian subjects. Atopic history was not significantly associated with SRNS in our subjects. [Paediatr Indones. 2011;51:272-6].

scholarly journals Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

2009 ◽  
Vol 17 (9) ◽  
pp. 1154-1159 ◽  
Author(s):  
Gabriel Miltenberger-Miltenyi ◽  
Thomas Schwarzbraun ◽  
Wolfgang N Löscher ◽  
Julia Wanschitz ◽  
Christian Windpassinger ◽  
...  
Keyword(s):  
In Silico ◽  
Gene Mutations ◽  
In Silico Analysis ◽  
Pmp22 Gene ◽  
Silico Analysis

scholarly journals Plasmapheresis-induced Clinical Improvement in a Patient with Steroid-Resistant Nephrotic Syndrome Due to Podocin (NPHS2) Gene Station

2010 ◽  
Vol 53 (3) ◽  
pp. 157-159 ◽  
Author(s):  
Sylva Skálová ◽  
Miroslav Podhola ◽  
Karel Vondrák ◽  
Gil Chernin
Keyword(s):  
Nephrotic Syndrome ◽  
Clinical Improvement ◽  
Combined Therapy ◽  
Immunosuppressive Agents ◽  
Gene Mutations ◽  
First Year ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Heterozygous Form ◽  
First Year Of Life

Podocin mutations (NPHS2 gene) are mostly responsible for steroid-resistant nephrotic syndrome (SRNS) of childhood onset. Patients with NPHS2 gene mutations do not respond to corticoids and other immunosuppressive agents; partial remission can be rarely induced by cyclosporin A. We present a boy, where SRNS was diagnosed within first year of life. By the age of 15 years, proteinuria reached 9000 mg/24 h, cholesterolemia 15 mmol/L, albuminemia 19.6 g/L, in spite of combined therapy with cyclosporine A, methylprednisolone, enalapril and losartan. At that time a combined heterozygous form of two NPHS2 gene mutations (p.R138Q and p.V290M) was diagnosed, methylprednisolone was discontinued and patient underwent ten plasmapheresis procedures. This resulted in clinical improvement (proteinuria 3000 mg/24 h, S-cholesterol 6 mmol/L, albumin 30g/L) lasting for three years. In conclusion, plasmapheresis can result in clinical improvement and stabilization of SRNS caused by podocine mutation, before renal replacement therapy is initiated.

scholarly journals Wilms′ tumour 1 gene mutations in south Indian children with steroid-resistant nephrotic syndrome

2016 ◽  
Vol 144 (2) ◽  
pp. 276 ◽  
Author(s):  
Prabha Senguttuvan ◽  
AravindSelvin Kumar ◽  
R Srilakshmi ◽  
SMK Karthickeyan ◽  
K Balakrishnan ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Gene Mutations ◽  
Wilms Tumour ◽  
Indian Children ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
South Indian

In silico analysis of COSMIC retrieved P body gene mutations in breast cancer

Gene Reports ◽  
2020 ◽  
Vol 19 ◽  
pp. 100617 ◽  
Author(s):  
Aswathi V. Paleri ◽  
Isaac Cherian ◽  
Padmanaban S. Suresh ◽  
Thejaswini Venkatesh
Keyword(s):  
Breast Cancer ◽  
In Silico ◽  
Gene Mutations ◽  
In Silico Analysis ◽  
Silico Analysis

scholarly journals The importance of genetic study in steroid-resistant nephrotic syndrome

2019 ◽  
Vol 8 (4) ◽  
pp. 271-282 ◽  
Author(s):  
Sepideh Zununi Vahed ◽  
Hakimeh Moghaddas Sani ◽  
Sima Rajabzadeh ◽  
Ziba Nariman-Saleh-Fam ◽  
Mina Hejazian ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Current Knowledge ◽  
Gene Mutations ◽  
Therapeutic Benefit ◽  
Steroid Resistance ◽  
Steroid Resistant ◽  
Steroid Resistant Nephrotic Syndrome ◽  
Filtration Barrier ◽  
Stage Renal Disease ◽  
End Stage

Steroid-resistant nephrotic syndrome (SRNS) is a challenging clinical task. It has heterogeneous etiology and extremely variable clinical outcomes and generally progresses to end-stage renal disease (ESRD). Different gene mutations in podocyte’s slit diaphragm, mitochondria, and cytoskeleton proteins, as well as glomerular basement membrane (GBM) have been associated with SRNS. These proteins regulate the function of the glomerular filtration barrier. Advances in genetic approaches and podocytology have led to discover the SRNS-causing genes that lead to a better understanding of the drug resistance. More than 45 genetic mutations have been recognized in the hereditary form of SRNS. This review offers an update on the current knowledge of steroid resistance-causing gene mutations in podocytes. Understanding the specific genes involved in SRNS would guarantee an optimum therapeutic benefit of steroid treatment.

scholarly journals Extensive In Silico Analysis of the Functional and Structural Consequences of SNPs in Human ARX Gene

2020 ◽  
Author(s):  
Mujahed I. Mustafa ◽  
Naseem S. Murshed ◽  
Abdelrahman H. Abdelmoneim ◽  
Abdelrafie M. Makhawi
Keyword(s):  
In Silico ◽  
Tertiary Structure ◽  
Motor Impairment ◽  
Gene Mutations ◽  
In Silico Analysis ◽  
Epileptic Encephalopathy ◽  
Nucleotide Polymorphisms ◽  
Severe Intellectual Disability ◽  
Structural Impacts ◽  
Silico Analysis

AbstractEarly infantile epileptic encephalopathy 1 (EIEE1) is a rare but devastating neurologic disorder that displays concomitant cognitive and motor impairment, and is often presented in the first months of life with severe intellectual disability. The objective of this study is to classify the most deleterious nsSNPs in ARX gene that may cause EIEE1 disease. Despite the reported association of ARX gene mutations with vulnerability to several neurologic condition, there is lack of in silico analysis on the functional and structural impacts of single nucleotide polymorphisms (SNPs) of the ARX at protein level. Therefore, the pathogenic nsSNPs in the human ARX obtained from NCBI were analyzed for their functional and structural impact using bioinformatics tools like SIFT, Polyphen, PROVEAN, I-Mutant, and MUPro. The effects of the mutations on tertiary structure of the human ARX protein were predicted using RaptorX and visualized by UCSF Chimera while STRING was used to investigate its protein–protein interaction. Our extensive in silico analysis revealed 11 mutations that will significantly alter the structure of human ARX protein; that may disturb the domain which will affect the function of the protein. Extensive in silico analysis of the functional and structural consequences of SNPs in human ARX gene revealed 11 mutations (L535Q, R528S, R380L, V374D, L343Q, T333N, T333S, R332H, R330H, G34R and L33P) that may cause EIEE1.Therefore, can be used as diagnostic markers for EIEE1.

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