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Nucleoporins and nucleocytoplasmic transport in hematologic malignancies

Seminars in Cancer Biology, 2014
Hematologic malignancies are often associated with chromosomal rearrangements that lead to the expression of chimeric fusion proteins. Rearrangements of the genes encoding two nucleoporins, NUP98 and NUP214, have been implicated in the pathogenesis of several types of hematologic malignancies, particularly acute myeloid leukemia.
Akiko, Takeda, Nabeel R, Yaseen
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Nucleoporin-associated steroid-resistant nephrotic syndrome

Pediatric Nephrology
Nucleoporins (Nups) are a class of proteins that assemble to form nuclear pore complexes, which are related to nucleocytoplasmic transport, gene expression, and the cell cycle. Pathogenic variants in six genes encoding Nups, NUP85, NUP93, NUP107, NUP133, NUP160, and NUP205, cause monogenic steroid-resistant nephrotic syndrome (SRNS), referred to as ...
Ling Yao +4 more
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Exploring genotype-phenotype correlation in nucleoporin nephropathy

Pediatric Research
Nucleoporin nephropathy, a rare genetic kidney disorder, is not well-characterized despite its early onset in childhood.We analyzed the clinical and genetic data of pediatric patients diagnosed with nucleoporin nephropathy at a southern Chinese pediatric nephrology center, and reviewed global cases reported up until July 2024.In our center, five ...
Yuxin, Pei +5 more
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