SHFM1 gene

Known as: split hand/foot malformation (ectrodactyly) type 1, ECD, SHSF1 
This gene plays a critical role in limb development.
National Institutes of Health

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Cell Cycle CompletionDELETED IN SPLIT-HAND/SPLIT-FOOT 1 REGIONEctrodactylyLigand Binding
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SHFM1 wt Allele

Papers overview

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Highly Cited
2010
Highly Cited
2010
Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus
Heterozygous mutations in p63 are associated with split hand/foot malformations (SHFM), orofacial clefting, and ectodermal… (More)
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2010
2010
Multi-area neural mass modeling of EEG and MEG signals
We previously proposed an integrated electroencephalography (EEG), magnetoencephalography (MEG), and functional Magnetic… (More)
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2009
2009
Sem1 is a functional component of the nuclear pore complex–associated messenger RNA export machinery
The evolutionarily conserved protein Sem1/Dss1 is a subunit of the regulatory particle (RP) of the proteasome, and, in mammalian… (More)
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Highly Cited
2008
Highly Cited
2008
A genetic interaction map of RNA-processing factors reveals links between Sem1/Dss1-containing complexes and mRNA export and splicing.
We used a quantitative, high-density genetic interaction map, or E-MAP (Epistatic MiniArray Profile), to interrogate the… (More)
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Review
2005
Review
2005
Endothelial cell dysfunction: can't live with it, how to live without it.
Endothelial cell dysfunction is emerging as an ultimate culprit for diverse cardiovascular diseases and cardiovascular… (More)
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2004
2004
Sem1, the yeast ortholog of a human BRCA2-binding protein, is a component of the proteasome regulatory particle that enhances proteasome stability.
Degradation of polyubiquitinated proteins by the proteasome often requires accessory factors; these include receptor proteins… (More)
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2001
2001
Circulating HER-2/erbB-2/c-neu (HER-2) extracellular domain as a prognostic factor in patients with metastatic breast cancer: Cancer and Leukemia Group B Study 8662.
PURPOSE The HER-2/erbB-2/c-neu (HER-2) proto-oncogene is a M(r) 185,000 transmembrane tyrosine kinase that is amplified and/or… (More)
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1998
1998
Visual evoked cortical magnetic responses to checkerboard pattern reversal stimulation: A study on the neural generators of N75, P100 and N145
In an attempt to elucidate the neural generators of pattern reversal visual evoked potentials (PR-VEPs), we measured the visual… (More)
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Highly Cited
1996
Highly Cited
1996
Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.
Split hand/split foot malformation (SHFM) is a heterogeneous limb developmental disorder, characterized by missing digits and… (More)
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Highly Cited
1994
Highly Cited
1994
Somatosensory evoked magnetic fields following median nerve stimulation
Topography of somatosensory evoked magnetic fields (SEFs) following stimulation of the median nerve were investigated in normal… (More)
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