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ProteomicsA novel nuclear RNA export pathway in the human testis – NXT2 is key player and azoospermia candidate gene
In eukaryotic cells, the nucleocytoplasmic export of bulk poly(A)+-mRNAs through the nuclear pore complex is mediated by the ubiquitously expressed NXT1-NXF1 heterodimer. In humans, autosomal NXT1 has an X-chromosomal paralogue called NXT2, which was subject to adaptive selection in primates and exh...
ORGANISM(S): Homo sapiens (Human) 
2025-03-05 | PXD061059 | Pride
Non-obstructive azoospermia Nxf3 Nxf2 Nuclear transport X chromosome Nuclear rna export Male infertility Nxt2 
ProteomicsA novel nuclear RNA export pathway in the human testis – NXT2 is key player and azoospermia candidate gene
In eukaryotic cells, the nucleocytoplasmic export of bulk poly(A)+-mRNAs through the nuclear pore complex is mediated by the ubiquitously expressed NXT1-NXF1 heterodimer. In humans, autosomal NXT1 has an X-chromosomal paralogue called NXT2, which was subject to adaptive selection in primates and exh...
ORGANISM(S): Homo sapiens (Human) 
2024-07-25 | PXD052904 | Pride
Non-obstructive azoospermia Nxf3 Nxf2 Nuclear transport X chromosome Nuclear rna export Male infertility Nxt2 
Genomicsena-DATASET-IfGH-11-05-2017-08:36:08:072-67 - samples
Clinical and genetic information of an individual with RVOT-VT and a KCNK2 (TREK1) gene mutation obtained after whole exome sequencing.
EGAD00001003328 | EGA
GenomicsWhole exome sequencing in RVOT patients
In a patient with right ventricular outflow tract (RVOT) tachycardia we identified a heterozygous point mutation in the selectivity filter of the stretch-activated K2P potassium channel TREK-1 (KCNK2 or K2P2.1). This mutation introduces abnormal sodium permeability to TREK-1 In addition, mutant chan...
EGAS00001002319 | EGA
GenomicsWhole exome sequencing in cardiovascular patients
Data Access Committee EGAC00001000621
EGAC00001000621 | EGA
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