Item does not contain fulltextSteroid-resistant nephrotic syndrome (SRNS) almost invariably progresses to end-stage renal disease. Although more than 50 monogenic causes of SRNS have been described, a large proportion of SRNS remains unexplained. Recently, it was discovered that mutations of NUP93 and NUP205, encoding 2 proteins of the inner ring subunit of the nuclear pore complex (NPC), cause SRNS. Here, we describe mutations in genes encoding 4 components of the outer rings of the NPC, namely NUP107, NUP85, NUP133, and NUP160, in 13 families with SRNS. Using coimmunoprecipitation experiments, we showed that certain pathogenic alleles weakened the interaction between neighboring NPC subunits. We demonstrated that morpholino knockdown of n...
International audienceSteroid-resistant nephrotic syndrome (SRNS) is characterized by high-range pro...
BACKGROUND: Variants in genes encoding nuclear pore complex (NPC) proteins are a newly identified ca...
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination o...
Steroid-resistant nephrotic syndrome (SRNS) almost invariably progresses to end-stage renal disease....
The nuclear pore complex (NPC) is a huge protein complex embedded in the nuclear envelope. It has ce...
Steroid-resistant nephrotic syndrome (SRNS) frequently leads to end-stage renal disease, ultimately ...
Nucleoporins (NUPs) are essential components of the nuclear pore complex (NPC).1 Only few diseases h...
Nucleoporins are essential components of the nuclear pore complex (NPC). Only a few diseases have be...
Background: Variants in genes encoding nuclear pore complex (NPC) proteins are a newly identified ca...
Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided into stero...
Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided into stero...
Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH-SCKS) include ...
Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided into stero...
Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided into stero...
Although structural nuclear pore proteins (nucleoporins) are seemingly required in every cell type t...
International audienceSteroid-resistant nephrotic syndrome (SRNS) is characterized by high-range pro...
BACKGROUND: Variants in genes encoding nuclear pore complex (NPC) proteins are a newly identified ca...
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination o...
Steroid-resistant nephrotic syndrome (SRNS) almost invariably progresses to end-stage renal disease....
The nuclear pore complex (NPC) is a huge protein complex embedded in the nuclear envelope. It has ce...
Steroid-resistant nephrotic syndrome (SRNS) frequently leads to end-stage renal disease, ultimately ...
Nucleoporins (NUPs) are essential components of the nuclear pore complex (NPC).1 Only few diseases h...
Nucleoporins are essential components of the nuclear pore complex (NPC). Only a few diseases have be...
Background: Variants in genes encoding nuclear pore complex (NPC) proteins are a newly identified ca...
Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided into stero...
Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided into stero...
Primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders (MCPH-SCKS) include ...
Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided into stero...
Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided into stero...
Although structural nuclear pore proteins (nucleoporins) are seemingly required in every cell type t...
International audienceSteroid-resistant nephrotic syndrome (SRNS) is characterized by high-range pro...
BACKGROUND: Variants in genes encoding nuclear pore complex (NPC) proteins are a newly identified ca...
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination o...