1 |
Integrin β3 Deficiency Results in Hypertriglyceridemia via Disrupting LPL (Lipoprotein Lipase) Secretion.
62
5
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Xiao B...Xi X
|
32237906 |
2020 |
2 |
Glanzmann thrombasthenia: genetic basis and clinical correlates.
62
5
|
Botero JP...ClinGen Platelet Disorder Variant Curation Expert Panel
|
32139434 |
2020 |
3 |
Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia.
62
5
|
Lu Z...Wei H
|
31088191 |
2020 |
4 |
A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia.
62
5
|
Guillet B...Nurden AT
|
31565851 |
2019 |
5 |
Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients.
62
5
|
Owaidah T...Al Tassan N
|
30792900 |
2019 |
6 |
Clinical and molecular insights into Glanzmann's thrombasthenia in China.
62
5
|
Zhou L...Xia L
|
29675921 |
2018 |
7 |
Novel mutations in Thai patients with glanzmann thrombasthenia.
62
5
|
Ittiwut R...Suphapeetiporn K
|
28888044 |
2017 |
8 |
Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression.
62
5
|
Hu L...Lin G
|
28232155 |
2017 |
9 |
Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy.
62
5
|
Ogawa Y...Handa H
|
27696190 |
2017 |
10 |
Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations.
62
5
|
Haghighi A...Sayer JA
|
26096001 |
2016 |
11 |
Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort.
62
5
|
Nurden AT...Vinciguerra C
|
25728920 |
2015 |
12 |
αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.
62
5
|
Buitrago L...Coller BS
|
25827233 |
2015 |
13 |
Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations.
62
5
|
Sandrock-Lang K...Zieger B
|
25373348 |
2015 |
14 |
Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study.
62
5
|
Sanchez-Guiu I...Lozano ML
|
25539746 |
2014 |
15 |
Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease.
62
5
|
Pontara E...Casonato A
|
24418945 |
2014 |
16 |
A novel amino acid substitution of integrin αIIb in Glanzmann thrombasthenia confirms that the N-terminal region of the receptor plays a role in maintaining β-propeller structure.
62
5
|
Pillois X...Nurden AT
|
22394243 |
2013 |
17 |
Molecular dynamics analysis of a novel β3 Pro189Ser mutation in a patient with glanzmann thrombasthenia differentially affecting αIIbβ3 and αvβ3 expression.
62
5
|
Laguerre M...Nurden AT
|
24236036 |
2013 |
18 |
Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia.
62
5
|
Park KJ...Kim HJ
|
22190468 |
2012 |
19 |
Natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients.
62
5
|
Fiore M...Nurden AT
|
22250950 |
2012 |
20 |
Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.
62
5
|
Nurden AT...Pillois X
|
21917754 |
2011 |
21 |
Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations?
62
5
|
Nurden AT...Pillois X
|
21557682 |
2011 |
22 |
Mutation analysis for a patient with Glanzmann thrombasthenia who produced a landmark isoantibody to the αIIbβ3 integrin.
62
5
|
Nurden AT...Pillois X
|
20492470 |
2010 |
23 |
AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.
62
5
|
Jallu V...Kaplan C
|
20020534 |
2010 |
24 |
Role of RFLP using TspRI for carrier detection in Glanzmann's thrombasthenia: a report on two families.
62
5
|
Kannan M...Saxena R
|
19170775 |
2010 |
25 |
Novel Mutations in the GPIIb and GPIIIa Genes in Glanzmann Thrombasthenia.
62
5
|
Pillitteri D...Kirchmaier CM
|
21113249 |
2010 |
26 |
A unique combination of inhibitory and partially activating mutations in beta3 of a patient with variant-type Glanzmann thrombasthenia.
62
5
|
Nurden AT...Pillois X
|
20438394 |
2010 |
27 |
Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia.
62
5
|
Kannan M...Saxena R
|
19691478 |
2009 |
28 |
Novel mutations in GP IIb gene in Glanzmann's thrombasthenia from India.
62
5
|
Vijapurkar M...Shetty S
|
19172520 |
2009 |
29 |
A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions.
62
5
|
D'Andrea G...Margaglione M
|
18832906 |
2008 |
30 |
Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients.
62
5
|
Nelson EJ...Srivastava A
|
16879215 |
2006 |
31 |
Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3).
62
5
|
Peretz H...Seligsohn U
|
16463284 |
2006 |
32 |
Glanzmann thrombasthenia.
62
5
|
Nurden AT
|
16722529 |
2006 |
33 |
A 13-bp deletion in alpha(IIb) gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombasthenia.
62
5
|
Rosenberg N...Seligsohn U
|
16359514 |
2005 |
34 |
A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa.
62
5
|
Losonczy G...Muszbek L
|
15886807 |
2005 |
35 |
Insertion of a C in the exon 28 of integrin alphaIIb gene leading to a frameshift mutation is responsible for Glanzmann thrombasthenia in a Japanese case.
62
5
|
Hayashi T...Tani Y
|
15748238 |
2005 |
36 |
Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin beta3 gene as a cause of the absence of platelet alphaIIbbeta3 in Glanzmann's thrombasthenia.
62
5
|
Tanaka S...Tani Y
|
15634267 |
2005 |
37 |
Triple heterozygosity in the integrin alphaIIb subunit in a patient with Glanzmann's thrombasthenia.
62
5
|
Nurden AT...Rand ML
|
15099289 |
2004 |
38 |
Glanzmann's thrombasthenia due to a point mutation within intron 10 results in aberrant splicing of the beta3 gene.
62
5
|
Tanaka S...Tani Y
|
14629479 |
2003 |
39 |
Two novel mutations in the alpha IIb calcium-binding domains identify hydrophobic regions essential for alpha IIbbeta 3 biogenesis.
62
5
|
Mitchell WB...French DL
|
12424194 |
2003 |
40 |
Two new beta3 integrin mutations in Indian patients with Glanzmann thrombasthenia: localization of mutations affecting cysteine residues in integrin beta3.
62
5
|
Nair S...French DL
|
12353082 |
2002 |
41 |
A Leu55 to Pro substitution in the integrin alphaIIb is responsible for a case of Glanzmann's thrombasthenia.
62
5
|
Tanaka S...Tani Y
|
12181054 |
2002 |
42 |
Two different beta3 cysteine substitutions alter alphaIIb beta3 maturation and result in Glanzmann thrombasthenia.
62
5
|
Milet-Marsal S...Bourre F
|
12152649 |
2002 |
43 |
Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients.
62
5
|
D'Andrea G...GLAnzmann's Thrombasthenia Italian Team (GLATIT)
|
12083483 |
2002 |
44 |
Nonsense mutation in exon-19 of GPIIb associated with thrombasthenic phenotype. Failure of GPIIb(delta597-1008) to form stable complexes with GPIIIa.
62
5
|
Arias-Salgado EG...Parrilla R
|
12008952 |
2002 |
45 |
Missense mutations in the beta(3) subunit have a different impact on the expression and function between alpha(IIb)beta(3) and alpha(v)beta(3).
62
5
|
Tadokoro S...Matsuzawa Y
|
11806996 |
2002 |
46 |
Description of 10 new mutations in platelet glycoprotein IIb (alphaIIb) and glycoprotein IIIa (beta3) genes.
62
5
|
Vinciguerra C...Negrier C
|
11798398 |
2001 |
47 |
A naturally occurring point mutation in the beta3 integrin MIDAS-like domain affects differently alphavbeta3 and alphaIIIbbeta3 receptor function.
62
5
|
Morel-Kopp MC...Kieffer N
|
11776310 |
2001 |
48 |
Probing conformational changes in the I-like domain and the cysteine-rich repeat of human beta 3 integrins following disulfide bond disruption by cysteine mutations: identification of cysteine 598 involved in alphaIIbbeta3 activation.
62
5
|
Chen P...Kieffer N
|
11507099 |
2001 |
49 |
A novel (288delC) mutation in exon 2 of GPIIb associated with type I Glanzmann's thrombasthenia.
62
5
|
Tao J...Parrilla R
|
11091187 |
2000 |
50 |
A naturally occurring mutation near the amino terminus of alphaIIb defines a new region involved in ligand binding to alphaIIbbeta3.
62
5
|
Basani RB...Poncz M
|
10607701 |
2000 |