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Items: 1 to 20 of 21

1.

[Molecular analysis of gene mutations in eight patients with Glanzmann's thrombasthenia].

Miao LZ, Gan FY, Gong Y, Qu CX, Wang JZ, Yuan JY, Gao BJ, Lu Y, You R.

Zhonghua Yi Xue Za Zhi. 2018 Aug 14;98(30):2418-2423. doi: 10.3760/cma.j.issn.0376-2491.2018.30.010. Chinese.

PMID:
30138987
2.

Familial macrothrombocytopenia due to a double mutation in cis in the alpha-actinin 1 gene (ACTN1), previously considered to be chronic immune thrombocytopenic purpura.

Kanhai D, Mulder R, Ploos van Amstel HK, Schutgens R, Lukens M, Tamminga RYJ.

Pediatr Blood Cancer. 2018 Dec;65(12):e27418. doi: 10.1002/pbc.27418. Epub 2018 Aug 19.

PMID:
30124235
3.

Network based subcellular proteomics in monocyte membrane revealed novel candidate genes involved in osteoporosis.

Zeng Y, Zhang L, Zhu W, He H, Sheng H, Tian Q, Deng FY, Zhang LS, Hu HG, Deng HW.

Osteoporos Int. 2017 Oct;28(10):3033-3042. doi: 10.1007/s00198-017-4146-5. Epub 2017 Jul 24.

4.

ACTN1-related Macrothrombocytopenia: A Novel Entity in the Progressing Field of Pediatric Thrombocytopenia.

Boutroux H, David B, Guéguen P, Frange P, Vincenot A, Leverger G, Favier R.

J Pediatr Hematol Oncol. 2017 Nov;39(8):e515-e518. doi: 10.1097/MPH.0000000000000885.

PMID:
28562514
5.

Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases.

Greene D; NIHR BioResource, Richardson S, Turro E.

Am J Hum Genet. 2016 Mar 3;98(3):490-499. doi: 10.1016/j.ajhg.2016.01.008. Epub 2016 Feb 25.

6.

Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans.

Schick UM, Jain D, Hodonsky CJ, Morrison JV, Davis JP, Brown L, Sofer T, Conomos MP, Schurmann C, McHugh CP, Nelson SC, Vadlamudi S, Stilp A, Plantinga A, Baier L, Bien SA, Gogarten SM, Laurie CA, Taylor KD, Liu Y, Auer PL, Franceschini N, Szpiro A, Rice K, Kerr KF, Rotter JI, Hanson RL, Papanicolaou G, Rich SS, Loos RJ, Browning BL, Browning SR, Weir BS, Laurie CC, Mohlke KL, North KE, Thornton TA, Reiner AP.

Am J Hum Genet. 2016 Feb 4;98(2):229-42. doi: 10.1016/j.ajhg.2015.12.003. Epub 2016 Jan 21.

7.

Diagnostic biomarker for ACTN1 macrothrombocytopenia.

Kunishima S, Kitamura K, Yasutomi M, Kobayashi R.

Blood. 2015 Nov 26;126(22):2525-6. doi: 10.1182/blood-2015-08-666180. Epub 2015 Oct 15. No abstract available.

8.

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.

Westbury SK, Turro E, Greene D, Lentaigne C, Kelly AM, Bariana TK, Simeoni I, Pillois X, Attwood A, Austin S, Jansen SB, Bakchoul T, Crisp-Hihn A, Erber WN, Favier R, Foad N, Gattens M, Jolley JD, Liesner R, Meacham S, Millar CM, Nurden AT, Peerlinck K, Perry DJ, Poudel P, Schulman S, Schulze H, Stephens JC, Furie B, Robinson PN, van Geet C, Rendon A, Gomez K, Laffan MA, Lambert MP, Nurden P, Ouwehand WH, Richardson S, Mumford AD, Freson K; BRIDGE-BPD Consortium.

Genome Med. 2015 Apr 9;7(1):36. doi: 10.1186/s13073-015-0151-5. eCollection 2015.

9.

Lymphocyte gene expression signatures from patients and mouse models of hereditary hemochromatosis reveal a function of HFE as a negative regulator of CD8+ T-lymphocyte activation and differentiation in vivo.

Costa M, Cruz E, Oliveira S, Benes V, Ivacevic T, Silva MJ, Vieira I, Dias F, Fonseca S, Gonçalves M, Lima M, Leitão C, Muckenthaler MU, Pinto J, Porto G.

PLoS One. 2015 Apr 16;10(4):e0124246. doi: 10.1371/journal.pone.0124246. eCollection 2015.

10.

The dendritic cell cytoskeleton promotes T cell adhesion and activation by constraining ICAM-1 mobility.

Comrie WA, Li S, Boyle S, Burkhardt JK.

J Cell Biol. 2015 Feb 16;208(4):457-73. doi: 10.1083/jcb.201406120. Epub 2015 Feb 9.

11.

Inherited thrombocytopenias: the beat goes on.

Rao AK, Songdej N.

Blood. 2015 Jan 29;125(5):748-50. doi: 10.1182/blood-2014-11-610675.

12.

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.

Bottega R, Marconi C, Faleschini M, Baj G, Cagioni C, Pecci A, Pippucci T, Ramenghi U, Pardini S, Ngu L, Baronci C, Kunishima S, Balduini CL, Seri M, Savoia A, Noris P.

Blood. 2015 Jan 29;125(5):869-72. doi: 10.1182/blood-2014-08-594531. Epub 2014 Oct 31.

13.

Update on the causes of platelet disorders and functional consequences.

Freson K, Wijgaerts A, van Geet C.

Int J Lab Hematol. 2014 Jun;36(3):313-25. doi: 10.1111/ijlh.12213. Review.

PMID:
24750678
14.

A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.

Guéguen P, Rouault K, Chen JM, Raguénès O, Fichou Y, Hardy E, Gobin E, Pan-Petesch B, Kerbiriou M, Trouvé P, Marcorelles P, Abgrall JF, Le Maréchal C, Férec C.

PLoS One. 2013 Sep 17;8(9):e74728. doi: 10.1371/journal.pone.0074728. eCollection 2013.

15.

ACTN1 mutations cause congenital macrothrombocytopenia.

Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Muramatsu H, Chiba K, Tanaka H, Miyazaki K, Sakai M, Ohtake M, Kobayashi R, Iguchi A, Niimi G, Otsu M, Takahashi Y, Miyano S, Saito H, Kojima S, Ogawa S.

Am J Hum Genet. 2013 Mar 7;92(3):431-8. doi: 10.1016/j.ajhg.2013.01.015. Epub 2013 Feb 21.

16.

Glutamate and synaptic plasticity systems and smoking behavior: results from a genetic association study.

dos Santos VA, Chatkin JM, Bau CH, Paixão-Côrtes VR, Sun Y, Zamel N, Siminovitch K.

PLoS One. 2012;7(6):e38666. doi: 10.1371/journal.pone.0038666. Epub 2012 Jun 18.

17.

LFA-1 fine-tuning by cathepsin X.

Jevnikar Z, Obermajer N, Kos J.

IUBMB Life. 2011 Sep;63(9):686-93. doi: 10.1002/iub.505. Epub 2011 Jul 27. Review.

18.

A multifunctional lentiviral-based gene knockdown with concurrent rescue that controls for off-target effects of RNAi.

Feng Y, Nie L, Thakur MD, Su Q, Chi Z, Zhao Y, Longmore GD.

Genomics Proteomics Bioinformatics. 2010 Dec;8(4):238-45. doi: 10.1016/S1672-0229(10)60025-3.

19.

Cathepsin X cleaves the beta2 cytoplasmic tail of LFA-1 inducing the intermediate affinity form of LFA-1 and alpha-actinin-1 binding.

Jevnikar Z, Obermajer N, Pecar-Fonović U, Karaoglanovic-Carmona A, Kos J.

Eur J Immunol. 2009 Nov;39(11):3217-27. doi: 10.1002/eji.200939562.

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