Tadbir K Bariana
Overview
Explore the profile of Tadbir K Bariana including associated specialties, affiliations and a list of published articles.
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9
Citations
326
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Recent Articles
1.
Sims M, Mayer L, Collins J, Bariana T, Megy K, Lavenu-Bombled C, et al.
Blood
. 2020 Jul;
136(17):1956-1967.
PMID: 32693407
Gray platelet syndrome (GPS) is a rare recessive disorder caused by biallelic variants in NBEAL2 and characterized by bleeding symptoms, the absence of platelet α-granules, splenomegaly, and bone marrow (BM)...
2.
Bury L, Megy K, Stephens J, Grassi L, Greene D, Gleadall N, et al.
Hum Mutat
. 2019 Sep;
41(1):277-290.
PMID: 31562665
The heterogeneous manifestations of MYH9-related disorder (MYH9-RD), characterized by macrothrombocytopenia, Döhle-like inclusion bodies in leukocytes, bleeding of variable severity with, in some cases, ear, eye, kidney, and liver involvement, make...
3.
Bariana T, Labarque V, Heremans J, Thys C, De Reys M, Greene D, et al.
Haematologica
. 2018 Nov;
104(5):1036-1045.
PMID: 30467204
Sphingolipids are fundamental to membrane trafficking, apoptosis, and cell differentiation and proliferation. KDSR or 3-keto-dihydrosphingosine reductase is an essential enzyme for sphingolipid synthesis, and pathogenic mutations in result in the...
4.
Mayer L, Jasztal M, Pardo M, Aguera de Haro S, Collins J, Bariana T, et al.
Blood
. 2017 Dec;
131(9):1000-1011.
PMID: 29187380
Mutations in , the gene encoding the scaffolding protein Nbeal2, are causal of gray platelet syndrome (GPS), a rare recessive bleeding disorder characterized by platelets lacking α-granules and progressive marrow...
5.
Bariana T, Ouwehand W, Guerrero J, Gomez K
Br J Haematol
. 2016 Dec;
176(5):705-720.
PMID: 27984638
Inherited disorders of platelet granules are clinically heterogeneous and their prevalence is underestimated because most patients do not undergo a complete diagnostic work-up. The lack of a genetic diagnosis limits...
6.
Simeoni I, Stephens J, Hu F, Deevi S, Megy K, Bariana T, et al.
Blood
. 2016 Apr;
127(23):2791-803.
PMID: 27084890
Inherited bleeding, thrombotic, and platelet disorders (BPDs) are diseases that affect ∼300 individuals per million births. With the exception of hemophilia and von Willebrand disease patients, a molecular analysis for...
7.
Turro E, Greene D, Wijgaerts A, Thys C, Lentaigne C, Bariana T, et al.
Sci Transl Med
. 2016 Mar;
8(328):328ra30.
PMID: 26936507
The Src family kinase (SFK) member SRC is a major target in drug development because it is activated in many human cancers, yet deleterious SRC germline mutations have not been...
8.
Stritt S, Nurden P, Turro E, Greene D, Jansen S, Westbury S, et al.
Blood
. 2016 Feb;
127(23):2903-14.
PMID: 26912466
Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal bleeding. In most MTP, this phenotype arises because of...
9.
Westbury S, Turro E, Greene D, Lentaigne C, Kelly A, Bariana T, et al.
Genome Med
. 2015 May;
7(1):36.
PMID: 25949529
Background: Heritable bleeding and platelet disorders (BPD) are heterogeneous and frequently have an unknown genetic basis. The BRIDGE-BPD study aims to discover new causal genes for BPD by high throughput...