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Overview page. Subjects: Medicine and Health — Chemistry.

A conserved protein family originally identified as alternatively spliced products of the ld (limb deformity) locus of the mouse, mutations in which disrupt pattern formation, cause limb...

See overview in Oxford Index

Formin1 disruption confers oligodactylism and alters Bmp signaling

Fen Zhou, Philip Leder, Aimée Zuniga and Markus Dettenhofer.

in Human Molecular Genetics

July 2009; p ublished online April 2009 .

Journal Article. Subjects: Genetics and Genomics. 6925 words.

Proper limb development requires concerted communication between cells within the developing limb bud. Several molecules have been identified which contribute to the formation of a...

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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 and Volney L. Sheen.

in Human Molecular Genetics

September 2014; p ublished online April 2014 .

Journal Article. Subjects: Genetics and Genomics. 6105 words.

Filamin B (FlnB) is an actin-binding protein thought to transduce signals from various membrane receptors and intracellular proteins onto the actin cytoskeleton. Formin1 (Fmn1) is an...

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LRP6 exerts non-canonical effects on Wnt signaling during neural tube closure

Jason D. Gray, Stanislav Kholmanskikh, Bozena S. Castaldo, Alex Hansler, Heekyung Chung, Brian Klotz, Shawn Singh, Anthony M. C. Brown and M. Elizabeth Ross.

in Human Molecular Genetics

November 2013; p ublished online June 2013 .

Journal Article. Subjects: Genetics and Genomics. 8954 words.

Low-density lipoprotein receptor related protein 6 (Lrp6) mutational effects on neurulation were examined using gain (Crooked tail, Lrp6Cd ) and loss (Lrp6 ) of...

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Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder

Raman Kumar, Mark A. Corbett, Nicholas J. C. Smith, Lachlan A. Jolly, Chuan Tan, Damien J. Keating, Michael D. Duffield, Toshihiko Utsumi, Koko Moriya, Katherine R. Smith, Alexander Hoischen, Kim Abbott, Michael G. Harbord, Alison G. Compton, Joshua A. Woenig, Peer Arts, Michael Kwint, Nienke Wieskamp, Sabine Gijsen, Joris A. Veltman, Melanie Bahlo, Joseph G. Gleeson, Eric Haan and Jozef Gecz.

in Human Molecular Genetics

April 2015; p ublished online December 2014 .

Journal Article. Subjects: Genetics and Genomics. 6705 words.

We report siblings of consanguineous parents with an infantile-onset neurodegenerative disorder manifesting a predominant sensorimotor axonal neuropathy, optic atrophy and cognitive...

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