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Keywords: Townes-Brocks syndrome
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Journal Articles
Journal: Development
Development (2009) 136 (4): 585–594.
Published: 15 February 2009
... ) 8 12 2008 © 2009. 2009 Sall Townes-Brocks syndrome Hox Limb development Shh Eph Mouse These signaling pathways cooperate with one another to sustain limb outgrowth. For instance, Shh, produced in the zone of the polarizing activity(ZPA), regulates gremlin 1 ( Grem1...
Includes: Supplementary data
Journal Articles
Journal: Development
Development (2006) 133 (15): 3005–3013.
Published: 1 August 2006
... and Sall1 formed heterodimers, and a truncated Sall1 caused mislocalization of Sall4 in the heterochromatin; thus, some symptoms of Townes-Brocks syndrome caused by SALL1 truncations could result from SALL4 inhibition. † Author for correspondence (e-mail: ryuichi@kaiju.medic.kumamoto-u.ac.jp...
Includes: Supplementary data
Journal Articles
Journal: Development
Development (2002) 129 (8): 1967–1974.
Published: 15 April 2002
.... Furthermore, the spalt / spalt-related null antennae are defective in hearing. Hearing defects are also associated with the human diseases Split Hand/Split Foot Malformation and Townes-Brocks Syndrome, which are linked to human homologs of Distal-less and spalt , respectively. We therefore propose...
Journal Articles
Journal: Development
Development (2001) 128 (16): 3105–3115.
Published: 15 August 2001
... ( sal ); heterozygous mutations in SALL1 in humans lead to Townes-Brocks syndrome. We have isolated a mouse homolog of SALL1 ( Sall1 ) and found that mice deficient in Sall1 die in the perinatal period and that kidney agenesis or severe dysgenesis are present. Sall1 is expressed in the metanephric...