Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia.
Sign Up to like & getrecommendations! Published in 2023 at "British journal of haematology"
DOI: 10.1111/bjh.18891
Abstract: Congenital erythrocytoses represent a heterogenous group of rare defects of erythropoiesis characterized by elevated erythrocyte mass. We performed molecular-genetic analysis of 21 Czech patients with congenital erythrocytosis and assessed the mutual link between chronic erythrocyte… read more here.
Keywords: erythroferrone; elevated erythroferrone; erythroferrone distinguishes; distinguishes erythrocytosis ... See more keywords
Inherited defects in the complement system
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Allergy and Immunology"
DOI: 10.1111/pai.13635
Abstract: The complement system plays an essential role in both innate and adaptive immune responses. Any dysregulation in this system can disturb normal host defense and alter inflammatory response leading to both infections and autoimmune diseases.… read more here.
Keywords: system; defects complement; complement system; inherited defects ... See more keywords
Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases
Sign Up to like & getrecommendations! Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22116039
Abstract: Defects in transcriptional and cell cycle regulation have emerged as novel pathophysiological mechanisms in congenital neuromuscular disease with the recent identification of mutations in the TRIP4 and ASCC1 genes, encoding, respectively, ASC-1 and ASCC1, two… read more here.
Keywords: inherited defects; neuromuscular diseases; complex congenital; asc complex ... See more keywords