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SMPX encodes a small protein that has no known functional domains. Zusätzlich bieten wir Ihnen SMPX Proteine (7) und viele weitere Produktgruppen zu diesem Protein an.
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A novel frameshift mutation in SMPX.
Audiological, medical, and family histories were collected and family members interviewed to compare hearing thresholds and case histories between cases with mutations in SMPX versus POU3F4 (zeige POU3F4 Antikörper).
SMPX is localized predominantly in repetitive double stripes flanking the Z-disc, and not present in nuclei.
Data indicate founder mutation in exon 3 (c.99delC) of SMPX that cosegregates in two Newfoundland families.
Demonstrate phenotypic heterogeneity in large family with an X-linked pattern of inherited sensorineural hearing impairment with SMPX mutations.
Our study identified mutations in SMPX in patients with X-chromosomal hearing impairment and suggested that the stress response of mechanically challenged inner-ear cells might critically depend on SMPX function.
This study identifies SMPX as a gene in which variation is associated with X-linked deafness and illustrates that NGS is instrumental in the efficient identification of disease-causing variants in unexpected genes.
Mice carrying a mesenchymal-specific deletion of CSL/RBP (zeige RBP4 Antikörper)-Jkappa, a key Notch (zeige NOTCH1 Antikörper) effector, exhibit spontaneous multifocal keratinocyte tumors that develop after dermal atrophy and inflammation.
Csl localizes to the costameric cytoskeleton of muscle cells through an association with focal adhesion proteins, where it may participate in regulation of cytoskeletal dynamics through the Rac1-p38 (zeige CRK Antikörper) pathway.
This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene.
small muscular protein
, stretch-responsive skeletal muscle protein
, X-linked small muscle protein
, small muscle protein X-linked
, cardiac and skeletal muscle protein
, chisel protein