» Articles » PMID: 36226496

The Name Counts: the Case of 'congenital Amegakaryocytic Thrombocytopenia'

Overview
Journal Haematologica
Specialty Hematology
Date 2022 Oct 13
PMID 36226496
Authors
Affiliations
Soon will be listed here.
Citing Articles

The CRISPR-Cas System and Clinical Applications of CRISPR-Based Gene Editing in Hematology with a Focus on Inherited Germline Predisposition to Hematologic Malignancies.

Kansal R Genes (Basel). 2024; 15(7).

PMID: 39062641 PMC: 11276294. DOI: 10.3390/genes15070863.


Rbm8a deficiency causes hematopoietic defects by modulating Wnt/PCP signaling.

Kocere A, Chiavacci E, Soneson C, Wells H, Mendez-Acevedo K, MacGowan J bioRxiv. 2023; .

PMID: 37090609 PMC: 10120739. DOI: 10.1101/2023.04.12.536513.

References
1.
Dasouki M, Rafi S, Olm-Shipman A, Wilson N, Abhyankar S, Ganter B . Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia. Blood. 2013; 122(20):3440-9. PMC: 3829117. DOI: 10.1182/blood-2012-12-473538. View

2.
Thompson A, Nguyen L . Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation. Nat Genet. 2000; 26(4):397-8. DOI: 10.1038/82511. View

3.
Germeshausen M, Ancliff P, Estrada J, Metzler M, Ponstingl E, Rutschle H . MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia. Blood Adv. 2018; 2(6):586-596. PMC: 5873238. DOI: 10.1182/bloodadvances.2018016501. View

4.
Albers C, Paul D, Schulze H, Freson K, Stephens J, Smethurst P . Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet. 2012; 44(4):435-9, S1-2. PMC: 3428915. DOI: 10.1038/ng.1083. View

5.
Capaci V, Adam E, Bar-Joseph I, Faleschini M, Pecci A, Savoia A . Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of as a novel mechanism of congenital amegakaryocytic thrombocytopenia. Haematologica. 2022; 108(5):1385-1393. PMC: 10153527. DOI: 10.3324/haematol.2022.281392. View