CALR-ETdb, the database of calreticulin variants diversity in essential thrombocythemia

Jahrani, Nora El; Cretin, Gabriel; Brevern, Alexandre G. de

doi:10.1080/09537104.2020.1869712

Cited by 2 publications

(6 citation statements)

References 53 publications

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“…The 5 other sequences of CALRms were taken from CALR-ETdb. Each one corresponds to one of the five classes described in [ 47 ], with class A being p.L367Tfs*46 (and corresponding to classical CALR type 1), CALR-ETdb variant 20; class B being p.K385Nfs*47 (and corresponding to classical CALR type 2), CALR-ETdb variant 10; class C being p.E380Dfs*51, CALR-ETdb variant 5; class D being p.E389*, CALR-ETdb variant 16; and class E being p.L367I, CALR-ETdb variant 3. Figure 1 summarizes all the different studied systems.…”

Section: Methodsmentioning

confidence: 99%

“…CALRwt was based on the calreticulin partial structure (PDB ID 6ENY chain E structure [ 35 ] from the Protein Data Bank [ 56 ]) and completed (please notice that the C-domain is identical to the one from the PDB, ID 5LK5 [ 57 ]). The CALRm structural models were taken from our database CALR-ETdb ( accessed on 17 December 2022) [ 47 ]. The modeling of the 3D models was performed with MODELLER v.10.0 [ 58 ].…”

Section: Methodsmentioning

confidence: 99%

“…To have a better outlook on CALRm, we have proposed a specific database named CALR-ETdb ( , accessed 20 February 2023) [ 47 ] that aggregates all CALRms from the COSMIC database [ 48 ] and bibliographic searches. Originally composed of 155 CALRms, it has now been updated to 169.…”

Section: Introductionmentioning

confidence: 99%

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Structural and Dynamic Differences between Calreticulin Mutants Associated with Essential Thrombocythemia

Radjasandirane

Brevern

2023

Biomolecules

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Essential thrombocythemia (ET) is a blood cancer. ET is characterized by an overproduction of platelets that can lead to thrombosis formation. Platelet overproduction occurs in megakaryocytes through a signaling pathway that could involve JAK2, MPL, or CALR proteins. CALR mutations are associated with 25–30% of ET patients; CALR variants must be dimerized to induce ET. We classified these variants into five classes named A to E; classes A and B are the most frequent classes in patients with ET. The dynamic properties of these five classes using structural models of CALR’s C-domain were analyzed using molecular dynamics simulations. Classes A, B, and C are associated with frameshifts in the C-domain. Their dimers can be stable only if a disulfide bond is formed; otherwise, the two monomers repulse each other. Classes D and E cannot be stable as dimers due to the absence of disulfide bonds. Class E and wild-type CALR have similar dynamic properties. These results suggest that the disulfide bond newly formed in classes A, B, and C may be essential for the pathogenicity of these variants. They also underline that class E cannot be directly related to ET but corresponds to human polymorphisms.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Structural and Dynamic Differences between Calreticulin Mutants Associated with Essential Thrombocythemia

Radjasandirane

Brevern

2023

Biomolecules

Self Cite

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Section: Introductionmentioning

confidence: 94%

“…Patients with the CALR type 1 mutation are more susceptible to thrombosis compared to CALR type 2. JAK2-mutated patients with ET have a major thrombotic event, double what is seen in CALR-mutated patients [ 1 , 9 , 10 ]. We are reporting a patient who presents with ST-segment elevation myocardial infarction (STEMI) as the initial manifestation of CALR-mutated ET (neither type 1 nor type 2).…”

Section: Introductionmentioning

confidence: 99%

Myocardial Infarction as an Initial Presentation of Essential Thrombocythemia With Calreticulin (CALR) Mutation (None Type 1, None Type 2)

Afana¹,

Abu-Tineh²,

Ellahie³

et al. 2023

Cureus

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Essential thrombocythemia (ET) is one of the classical Philadelphia-negative myeloproliferative neoplasms with different mutations that can be associated with it, like Janus kinase 2 (JAK2), myeloproliferative leukemia protein (MPL), and Calreticulin (CALR) (types 1 and 2). However, there is a lack in the literature concerning other types of CALR mutations and their clinical significance and prognosis. Here we report a 42-year-old male with type 2 diabetes who presented with an inferior ST-elevation myocardial infarction and thrombocytosis. The diagnosis of ET with CALR (neither type 1 nor type 2) was confirmed, which suggests the pathognomonic feature of this mutation.

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CALR-ETdb, the database of calreticulin variants diversity in essential thrombocythemia

Cited by 2 publications

References 53 publications

Structural and Dynamic Differences between Calreticulin Mutants Associated with Essential Thrombocythemia

Structural and Dynamic Differences between Calreticulin Mutants Associated with Essential Thrombocythemia

Myocardial Infarction as an Initial Presentation of Essential Thrombocythemia With Calreticulin (CALR) Mutation (None Type 1, None Type 2)

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