Full Text Mutations in nuclear pore genes NUP93 , NUP205 and XPO5causesteroid - resistant nephrotic syndrome 12

View abstract Solanki AK , Widmeier E , Arif E , Sharma S , Daga A , Srivastava P , Kwon SH , Hugo H , Nakayama M , Mann N , Majmundar AJ , Tan W , Gee HY , Sadowski CE , Rinat C , Becker - Cohen R , Bergmann C , Rosen S , Somers M , Shril S , Huber TB , Mane S , Hildebrandt F , Nihalani D. Mutations in KIRREL1 , a slit diaphragm componentcausesteroid - resistant nephrotic syndrome

His group ... knownto causesteroid - resistant nephrotic syndrome

MPGN II(passive) caused bysteroid - resistant nephrotic syndrome

6 Mutations in nuclear pore genes NUP93 , NUP205 and XPO5causesteroid - resistant nephrotic syndrome

2016 Mutations in nuclear pore genes NUP93 , NUP205 and XPO5causesteroid - resistant nephrotic syndrome

loss - of - function mutations in sphingosine-1-phosphate lyase[ncbi.nlm.nih.gov ] Diarrhea following organ transplantation(passive) caused bysteroid - resistant nephrotic syndrome

Free PMC Article Mutations in nuclear pore genes NUP93 , NUP205 and XPO5causesteroid - resistant nephrotic syndrome

71 30179222 2018 Mutations in nuclear pore genes NUP93 , NUP205 and XPO5causesteroid - resistant nephrotic syndrome

2 3 23 54 Mutations in nuclear pore genes NUP93 , NUP205 and XPO5causesteroid - resistant nephrotic syndrome

Kidney Int 60 : 1037–1046 , 2001pmid:11532098 : Mutations in KIRREL1 , a slit diaphragm componentcausesteroid - resistant nephrotic syndrome

a causative mutation in one of 20 genes knownto causesteroid - resistant nephrotic syndrome

SGPL1 mutations(passive) caused bysteroid - resistant nephrotic syndrome

co - inheritance of mutations at NPHS1 and ADCK4 genes in two Chinese siblings Hongwen Zhang(passive) caused bySteroid - resistant nephrotic syndrome

mutations ... 55 genescausesteroid - resistant nephrotic syndrome ( SRNS ... and

new genetic mutationscould leadto steroid - resistant nephrotic syndrome

a gene change , or mutation(passive) is caused bySteroid - Resistant Nephrotic Syndrome

mutation in a gene that plays a major role in the production of a protein called podocin(passive) is caused bySteroid - resistant nephrotic syndrome

ORCID record for Zihua Yu Center for Genetic Medicine Research , Children ’s National Health System , Washington , DC;Department of Genomics and Precision Medicine , The George Washington University School of Medicine and Health Sciences , Washington , DC Mutations in > 50 genescan leadto monogenic steroid - resistant nephrotic syndrome ( SRNS

various glomerular diseases , including membranous nephropathy , minimal change disease and focal segmental glomerulosclerosis(passive) caused bysteroid - resistant nephrotic syndrome

focal segmental glomerulosclerosis at age of 2 years and onset of dilated cardiomyopathy from the age of 7 years(passive) caused bysteroid - resistant nephrotic syndrome

specific mutations in nuclear pore genescan causesteroid - resistant nephrotic syndrome ( SRNS

So far mutations in 60 genes were identifiedto causesteroid resistant nephrotic syndrome ( SRNS

the Finnish form of congenital nephrosis and mutations in thecausesteroid - resistant nephrotic syndrome

Braun DA , Sadowski CE , Kohl S , Lovric S , Astrinidis SA , Pabst WL , Gee HY , Ashraf S , Lawson JA , Shril S , Airik M , Tan W , Schapiro D , Rao J , Choi WI , Hermle T , Kemper MJ , Pohl M , Ozaltin F , Konrad M , Bogdanovic R , Büscher R , Helmchen U , Serdaroglu E , Lifton RP , Antonin W , Hildebrandt F. Mutations in nuclear pore genes NUP93 , NUP205 and XPO5causesteroid - resistant nephrotic syndrome

Braun , D. A. , C. E. Sadowski , S. Kohl , S. Lovric , W. L. Pabst , H. Y. Gee , S. A. Astrinidis , S. Ashraf , J. A. Lawson , S. Shril , M. Airik , W. Tan , D. Schapiro , J. Rao , W.-I. Choi , T. Hermle , M. J. Kemper , M. Pohl , F. Ozaltin , M. Konrad , R. Bogdanovic , R. Büscher , U. Helmchen , E. Serdaroglu , R. P. Lifton , W. Antonin and F. Hildebrandt : Mutations in nuclear pore genes NUP93 , NUP205 and XPO5causesteroid - resistant nephrotic syndrome

podocin mutations in ~25 % of childhood and ~15 % of adult cases(passive) is caused bysteroid - resistant nephrotic syndrome

loss - of - function mutations in sphingosine-1-phosphate lyase ( SGPL1(passive) caused bysteroid - resistant nephrotic syndrome

podocin mutations in about 25 % of children and nearly 15 % of adults with the disease(passive) is caused bySteroid - resistant nephrotic syndrome

Solanki , Ashish K. ; Widmeier , Eugen ; Arif , Ehtesham ; Sharma , Shailza ; Daga , Ankana ; Srivastava , Pankaj ; Kwon , Sang Ho ; Hugo , Hannah ; Nakayama , Makiko ; Mann , Nina ; Majmundar , Amar J. ; Tan , Wei ; Gee , Heon Yung ; Sadowski , Caroline E. ; Rinat , Choni ; Becker - Cohen , Rachel ; Bergmann , Carsten ; Rosen , Seymour ; Somers , Michael ; Shril , Shirlee ; Huber , Tobias B. ; Mane , Shrikant ; Hildebrandt , Friedhelm ; Nihalani , Deepak . / Mutations in KIRREL1 , a slit diaphragm componentcausesteroid - resistant nephrotic syndrome

Co - inheritance of Mutations at and Genes in Two Chinese Siblings Intractable & Rare Diseases Research(passive) Caused by29185209 Steroid - resistant Nephrotic Syndrome

the molecular bases of several conditionsleadto steroid - resistant nephrotic syndrome ( SRNS

2 genes ( AHI1 and MKS3 ) causing NPHP - like phenotypes , and 2 genes ( NPHS1 and 2causesteroid resistant nephrotic syndrome ( SRNS

FSGS ( 15(passive) caused bysteroid - resistant nephrotic syndrome

a novel Crumbs(passive) caused bysteroid - resistant nephrotic syndrome

Whereas over 50 monogenic genes have been publishedto causesteroid resistant nephrotic syndrome ( SRNS

the novel genescausingsteroid - resistant nephrotic syndrome ( SRNS

DDS 39 2019 Molecular assay for an intronic variant in NUP93causessteroid resistant nephrotic syndrome

other monogenic variantscausingsteroid - resistant nephrotic syndrome

Some 50 different genes that serve vital roles — including encoding components of the slit diaphragm , actin cytoskeleton proteins and nucleoporins , building blocks of the nuclear pore complexcan triggersteroid - resistant nephrotic syndrome