scholarly journals A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease

2020 ◽  
Author(s):  
Anna Morgan ◽  
Savina Dipresa ◽  
Licia Turolla ◽  
Martina La Bianca ◽  
Flavio Faletra ◽  
...  
Keyword(s):  
Tar Syndrome

Thrombocytopenia-absent radius (TAR) syndrome: A clinical genetic series of 14 further cases. Impact of the associated 1q21.1 deletion on the genetic counselling

2011 ◽  
Vol 54 (5) ◽  
pp. e471-e477 ◽  
Author(s):  
Ali Houeijeh ◽  
Joris Andrieux ◽  
Pascale Saugier-Veber ◽  
Albert David ◽  
Alice Goldenberg ◽  
...  
Keyword(s):  
Genetic Counselling ◽  
Clinical Genetic ◽  
Tar Syndrome ◽  
Absent Radius ◽  
1Q21.1 Deletion

Uncommon obstacle: management of end-stage heart failure in thrombocytopenia with absent radii (TAR) syndrome

2021 ◽  
Vol 14 (7) ◽  
pp. e243127
Author(s):  
Jean Kim ◽  
Jakrin Kewcharoen ◽  
Corey J Lum ◽  
Steven S Azuma
Keyword(s):  
Heart Failure ◽  
Genetic Condition ◽  
Tar Syndrome ◽  
End Stage Heart Failure ◽  
End Stage

Thrombocytopenia with absent radii (TAR) syndrome is a rare genetic condition causing absent radial bones and thrombocytopenia. Management is generally supportive although there may be a role for platelet-stimulating agents such as romiplostim. In this case, we highlight the obstacles in managing end-stage heart failure in a patient with TAR syndrome.

scholarly journals Thrombopoietin in Patients With Congenital Thrombocytopenia and Absent Radii: Elevated Serum Levels, Normal Receptor Expression, But Defective Reactivity to Thrombopoietin

Blood ◽  
1997 ◽  
Vol 90 (2) ◽  
pp. 612-619 ◽  
Author(s):  
Matthias Ballmaier ◽  
Harald Schulze ◽  
Gabriele Strauβ ◽  
Klara Cherkaoui ◽  
Nicole Wittner ◽  
...  
Keyword(s):  
Elevated Serum ◽  
Signal Transduction Pathway ◽  
Adenosine Diphosphate ◽  
Serum Levels ◽  
Receptor Expression ◽  
Healthy Controls ◽  
Transduction Pathway ◽  
Platelet Response ◽  
Tar Syndrome

The pathophysiology of thrombocytopenia in the syndrome of thrombocytopenia with absent radii (TAR) is not yet understood. We examined thrombopoietin (TPO) serum levels and the in vitro reactivity of platelets to TPO in five patients affected with TAR syndrome. We found elevated TPO serum levels in all patients tested, excluding a TPO production defect as cause for thrombocytopenia in TAR syndrome. In addition, we found similar expression of the TPO receptor c-Mpl on the surface of platelets from TAR patients (5 of 5) and a similar molecular weight of the receptor as compared with healthy controls (4 of 4). Platelet response to adenosine diphosphate or thrombin receptor agonist peptide SFLLRN (TRAP) was normal in TAR patients. However, in contrast to results with healthy controls we could show absence of in vitro reactivity of platelets from TAR patients to recombinant TPO as measured by testing TPO synergism to adenine diphosphate and TRAP in platelet activation. TPO induced tyrosine phosphorylation of platelet proteins was completely absent (3 of 4) or markedly decreased (1 of 4). Our results indicate that defective megakaryocytopoiesis/thrombocytopoiesis in TAR syndrome is not caused by a defect in TPO production but a lack of response to TPO in the signal transduction pathway of c-Mpl.

scholarly journals Thrombocytopenia with Absent Radii (TAR) Syndrome Without Significant Thrombocytopenia

Cureus ◽  
2020 ◽  
Author(s):  
Jael Cowan ◽  
Taral Parikh ◽  
Rajdeepsingh Waghela ◽  
Ricardo Mora
Keyword(s):  
Tar Syndrome

Consanguinity in a Turkish family with thrombocytopenia with absent radii (TAR) syndrome

1983 ◽  
Vol 64 (1) ◽  
pp. 94-96 ◽  
Author(s):  
M. Teufel ◽  
H. Enders ◽  
R. Dopfer
Keyword(s):  
Tar Syndrome ◽  
Turkish Family

scholarly journals Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

2012 ◽  
Vol 44 (4) ◽  
pp. 435-439 ◽  
Author(s):  
Cornelis A Albers ◽  
Dirk S Paul ◽  
Harald Schulze ◽  
Kathleen Freson ◽  
Jonathan C Stephens ◽  
...  
Keyword(s):  
Low Frequency ◽  
Exon Junction Complex ◽  
Null Mutation ◽  
Exon Junction ◽  
Tar Syndrome

scholarly journals Thrombocytopenia with absent radii (TAR) syndrome in a female neonate: a case report

2019 ◽  
Vol 33 ◽  
Author(s):  
Olayemi Atinuke Alagbe ◽  
Adekunle Emmanuel Alagbe ◽  
Emmanuel Olugbenga Onifade ◽  
Temitope Olugbenga Bello
Keyword(s):  
Case Report ◽  
Tar Syndrome
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