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Items: 7

1.

Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder.

Bedoyan JK, Schaibley VM, Peng W, Bai Y, Mondal K, Shetty AC, Durham M, Micucci JA, Dhiraaj A, Skidmore JM, Kaplan JB, Skinner C, Schwartz CE, Antonellis A, Zwick ME, Cavalcoli JD, Li JZ, Martin DM.

J Med Genet. 2012 May;49(5):332-40. doi: 10.1136/jmedgenet-2011-100575.

2.

Mutations of the mouse ELMO domain containing 1 gene (Elmod1) link small GTPase signaling to actin cytoskeleton dynamics in hair cell stereocilia.

Johnson KR, Longo-Guess CM, Gagnon LH.

PLoS One. 2012;7(4):e36074. doi: 10.1371/journal.pone.0036074. Epub 2012 Apr 27.

3.

Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila.

Schoen CJ, Emery SB, Thorne MC, Ammana HR, Sliwerska E, Arnett J, Hortsch M, Hannan F, Burmeister M, Lesperance MM.

Proc Natl Acad Sci U S A. 2010 Jul 27;107(30):13396-401. doi: 10.1073/pnas.1003027107. Epub 2010 Jul 12.

4.

Rac/Rho pathway regulates actin depolymerization induced by aminoglycoside antibiotics.

Jiang H, Sha SH, Schacht J.

J Neurosci Res. 2006 Jun;83(8):1544-51.

5.

Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss.

Shahin H, Walsh T, Sobe T, Abu Sa'ed J, Abu Rayan A, Lynch ED, Lee MK, Avraham KB, King MC, Kanaan M.

Am J Hum Genet. 2006 Jan;78(1):144-52. Epub 2005 Nov 21.

6.

An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains.

Ishikawa K, Toru S, Tsunemi T, Li M, Kobayashi K, Yokota T, Amino T, Owada K, Fujigasaki H, Sakamoto M, Tomimitsu H, Takashima M, Kumagai J, Noguchi Y, Kawashima Y, Ohkoshi N, Ishida G, Gomyoda M, Yoshida M, Hashizume Y, Saito Y, Murayama S, Yamanouchi H, Mizutani T, Kondo I, Toda T, Mizusawa H.

Am J Hum Genet. 2005 Aug;77(2):280-96. Epub 2005 Jul 6.

7.

Auditory neuroscience: development, transduction, and integration.

Hudspeth AJ, Konishi M.

Proc Natl Acad Sci U S A. 2000 Oct 24;97(22):11690-1.

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