Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA
暂无分享,去创建一个
Alice R. Clark | A. R. Clark | S. Robertson | J. Tolmie | D. Pilz | F. Stewart | T. Homfray | B. Castle | E. Kivuva | A. Sutherland-Smith | T. Morgan | Z. Jenkins | M. Edwards | M. Gabbett | T. Dudding | G. M. Sawyer | M. Kogelenberg | A. Anandan
[1] E. Zackai,et al. Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A , 2012, European Journal of Human Genetics.
[2] P. Fergelot,et al. Atypical male and female presentations of FLNA-related periventricular nodular heterotopia. , 2012, European journal of medical genetics.
[3] S. Robertson,et al. RefilinB (FAM101B) targets FilaminA to organize perinuclear actin networks and regulates nuclear shape , 2011, Proceedings of the National Academy of Sciences.
[4] J. Hartwig,et al. The filamins , 2011, Cell adhesion & migration.
[5] S. Robertson,et al. Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. , 2010, American journal of human genetics.
[6] Pere Roca-Cusachs,et al. Filamin depletion blocks endoplasmic spreading and destabilizes force-bearing adhesions , 2010, Molecular biology of the cell.
[7] F. Ding,et al. N‐terminal strands of filamin Ig domains act as a conformational switch under biological forces , 2010, Proteins.
[8] D. Calderwood,et al. Filamins Regulate Cell Spreading and Initiation of Cell Migration , 2009, PloS one.
[9] K. Eliceiri,et al. Filamin A-beta1 integrin complex tunes epithelial cell response to matrix tension. , 2009, Molecular biology of the cell.
[10] D A Weitz,et al. Filamin A is essential for active cell stiffening but not passive stiffening under external force. , 2009, Biophysical journal.
[11] A. Kwon,et al. Crystal structure of the dimerization domain of human filamin A , 2009, Proteins.
[12] David A. Weitz,et al. Molecular Basis of Filamin A-FilGAP Interaction and Its Impairment in Congenital Disorders Associated with Filamin A Mutations , 2009, PloS one.
[13] C. McCulloch,et al. The role of FilGAP-filamin A interactions in mechanoprotection. , 2009, Molecular biology of the cell.
[14] C. Walsh,et al. Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. , 2009, Human molecular genetics.
[15] Fumihiko Nakamura,et al. Structural basis of filamin A functions , 2007, The Journal of cell biology.
[16] Tony J Collins,et al. ImageJ for microscopy. , 2007, BioTechniques.
[17] A. Ciccodicola,et al. Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. , 2007, American journal of human genetics.
[18] C. Liang,et al. In vitro scratch assay: a convenient and inexpensive method for analysis of cell migration in vitro , 2007, Nature Protocols.
[19] Luis Vidali,et al. Filamin A (FLNA) is required for cell–cell contact in vascular development and cardiac morphogenesis , 2006, Proceedings of the National Academy of Sciences.
[20] J. Trochu,et al. Mutations in the Gene Encoding Filamin A as a Cause for Familial Cardiac Valvular Dystrophy , 2006, Circulation.
[21] J. Hartwig,et al. FilGAP, a Rho- and ROCK-regulated GAP for Rac binds filamin A to control actin remodelling , 2006, Nature Cell Biology.
[22] D A Weitz,et al. Prestressed F-actin networks cross-linked by hinged filamins replicate mechanical properties of cells. , 2006, Proceedings of the National Academy of Sciences of the United States of America.
[23] J. Winkler,et al. A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome , 2005, Journal of Medical Genetics.
[24] C. Walsh,et al. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome , 2005, Neurology.
[25] R. Guerrini,et al. Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia , 2004, Neurogenetics.
[26] S. Sisodiya,et al. Germline and mosaic mutations of FLN1 in men with periventricular heterotopia , 2004, Neurology.
[27] Charles E. Schwartz,et al. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans , 2003, Nature Genetics.
[28] Walter Stöcklein,et al. The limits of promiscuity: isoform-specific dimerization of filamins. , 2003, Biochemistry.
[29] Christopher A. Walsh,et al. Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact. , 2002, Human molecular genetics.
[30] M. D'Addario,et al. Cell Death and Mechanoprotection by Filamin A in Connective Tissues after Challenge by Applied Tensile Forces* , 2002, The Journal of Biological Chemistry.
[31] N W Wood,et al. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. , 2001, Human molecular genetics.
[32] M. Saraste,et al. Crystal Structure of the α-Actinin Rod Reveals an Extensive Torsional Twist , 2001 .
[33] J. Hartwig,et al. Filamins as integrators of cell mechanics and signalling , 2001, Nature Reviews Molecular Cell Biology.
[34] William B Dobyns,et al. Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia , 1998, Neuron.
[35] C. Herberhold,et al. The repeating segments of the F-actin cross-linking gelation factor (ABP-120) have an immunoglobulin-like fold , 1997, Nature Structural Biology.
[36] P. Janmey,et al. Actin-binding protein requirement for cortical stability and efficient locomotion. , 1992, Science.
[37] J H Hartwig,et al. Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring , 1990, The Journal of cell biology.
[38] R. Weihing. Actin-binding and dimerization domains of HeLa cell filamin. , 1988, Biochemistry.
[39] J. Hartwig,et al. Actin-binding protein promotes the bipolar and perpendicular branching of actin filaments , 1980, The Journal of cell biology.
[40] P. Butler,et al. Structural basis for vertebrate filamin dimerization. , 2005, Structure.
[41] M. Saraste,et al. Crystal structure of the alpha-actinin rod reveals an extensive torsional twist. , 2001, Structure.