PMC Links for OMIM (Select 603381) - PMC

Select item 41194171.

Formin 1 and Filamin B physically interact to coordinate chondrocyte proliferation and differentiation in the growth plate

Jianjun Hu, Jie Lu, Gewei Lian, Russell J. Ferland, Markus Dettenhofer, Volney L. Sheen

Hum Mol Genet. 2014 Sep 1; 23(17): 4663–4673. Published online 2014 Apr 23. doi: 10.1093/hmg/ddu186

PMCID:: PMC4119417

Article PDF–2.1M

Select item 39488262.

Identification of a De Novo Heterozygous Missense FLNB Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing

Ga Won Jeon, Mi-Na Lee, Ji Mi Jung, Seong Yeon Hong, Young Nam Kim, Jong Beom Sin, Chang-Seok Ki

Ann Lab Med. 2014 Mar; 34(2): 134–138. Published online 2014 Feb 13. doi: 10.3343/alm.2014.34.2.134

PMCID:: PMC3948826

Article PDF–696K

Select item 26801513.

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome

Claire Farrington-Rock, Veneta Kirilova, Lisa Dillard-Telm, Alexander D. Borowsky, Sara Chalk, Matthew J. Rock, Daniel H. Cohn, Deborah Krakow

Hum Mol Genet. Author manuscript; available in PMC 2009 May 11.

Published in final edited form as: Hum Mol Genet. 2008 Mar 1; 17(5): 631–641. Published online 2007 Jul 17. doi: 10.1093/hmg/ddm188

PMCID:: PMC2680151

Article PDF–2.9M

Select item 26370324.

Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations

Nicola Brunetti-Pierri, Valentina Esposito, Daniele De Brasi, Dario Maria Mattiacci, Deborah Krakow, Brendan Lee, Mariacarolina Salerno

Am J Med Genet A. Author manuscript; available in PMC 2009 Feb 6.

Published in final edited form as: Am J Med Genet A. 2008 May 1; 146A(9): 1230–1233. doi: 10.1002/ajmg.a.32303

PMCID:: PMC2637032

Article PDF–67K

Select item 25980535.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Louise S Bicknell, Claire Farrington‐Rock, Yousef Shafeghati, Patrick Rump, Yasemin Alanay, Yves Alembik, Navid Al‐Madani, Helen Firth, Mohammad Hassan Karimi‐Nejad, Chong Ae Kim, Kathryn Leask, Melissa Maisenbacher, Ellen Moran, John G Pappas, Paolo Prontera, Thomy de Ravel, Jean‐Pierre Fryns, Elizabeth Sweeney, Alan Fryer, Sheila Unger, L C Wilson, Ralph S Lachman, David L Rimoin, Daniel H Cohn, Deborah Krakow, Stephen P Robertson

J Med Genet. 2007 Feb; 44(2): 89–98. Published online 2006 Jun 26. doi: 10.1136/jmg.2006.043687

PMCID:: PMC2598053

Article PDF–1.0M

Select item 20421376.

Interaction of Presenilins with the Filamin Family of Actin-Binding Proteins

Wanjiang Zhang, Sang Woo Han, Daniel W. McKeel, Alison Goate, Jane Y. Wu

J Neurosci. 1998 Feb 1; 18(3): 914–922. doi: 10.1523/JNEUROSCI.18-03-00914.1998

PMCID:: PMC2042137

Article PDF–782K

Select item 18206847.

Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development

Xianghua Zhou, Fei Tian, Johan Sandzén, Renhai Cao, Emilie Flaberg, Laszlo Szekely, Yihai Cao, Claes Ohlsson, Martin O. Bergo, Jan Borén, Levent M. Akyürek

Proc Natl Acad Sci U S A. 2007 Mar 6; 104(10): 3919–3924. Published online 2007 Feb 26. doi: 10.1073/pnas.0608360104

PMCID:: PMC1820684

Article PDF–817K

Select item 17360938.

Mutations in FLNB cause boomerang dysplasia

L Bicknell, T Morgan, L Bonafe, M Wessels, M Bialer, P Willems, D Cohn, D Krakow, S Robertson

J Med Genet. 2005 Jul; 42(7): e43. doi: 10.1136/jmg.2004.029967

PMCID:: PMC1736093

Summary PDF–188K

Select item 468539.

Cloning from the thyroid of a protein related to actin binding protein that is recognized by Graves disease immunoglobulins.

P J Leedman, B Faulkner-Jones, D S Cram, P J Harrison, J West, E O'Brien, R Simpson, R L Coppel, L C Harrison

Proc Natl Acad Sci U S A. 1993 Jul 1; 90(13): 5994–5998. doi: 10.1073/pnas.90.13.5994

PMCID:: PMC46853

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