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amelia

amelia  

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n. congenital total absence of the arms or legs due to a developmental defect. It is one of the fetal abnormalities induced by the drug thalidomide taken early in pregnancy. See also phocomelia.
APC

APC  

The human gene for adenomatous polyposis coli protein. The gene is a tumour suppressor, and mutations are associated with familial adenomatous polyposis, Gardner's syndrome, etc. and contribute to ...
axin

axin  

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Proteins (axin-1, 862 aa; axin-2, 843 aa) that control dorsoventral patterning by down-regulating β-*catenin to inhibit the Wnt signalling pathway, ventralizing the embryo, and activating a ...
canonical

canonical  

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Describing something classical, archetypal, or prototypic, often applied to a sequence of nucleotides or amino acids that reflects the most common choice of base or amino acid at each position. A ...
casein kinases

casein kinases  

A group of kinases that preferentially phosphorylate acidic proteins such as caseins but can phosphorylate a large number of proteins. Casein kinase 1 (EC 2.7.11.1, multiple isoforms, ~415 aa) ...
catenins

catenins  

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Proteins that are associated with the cytoplasmic domain of adhesion molecules such as cadherins and link them to the cytoskeleton. A second role is in regulating transcription factors. α-Catenin ...
cellular signal transduction

cellular signal transduction  

The pathways through which cells receive external signals and transmit, amplify, and direct them internally. The pathway begins with cell-surface receptors (q.v.) and may end in the cell nucleus with ...
developmental disorder

developmental disorder  

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Any one of a group of conditions in infancy or childhood, that are characterized by delays in biologically determined psychological functions, such as language. They are more common in males than ...
dickkopf

dickkopf  

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A family of secreted proteins (220–350 aa) that are inhibitors of Wnt signalling. Originally identified in Xenopus but human homologues (DKK1–4) have subsequently been identified. There is a ...
dishevelled-1

dishevelled-1  

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The homologue of the product of the Drosophila gene dishevelled, a scaffold phosphoprotein that regulates cell proliferation, and that is involved in the Wnt signalling system. Interacts with MuSK in ...
Frat proteins

Frat proteins  

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Products of the human homologues of the murine proto-oncogene (frequently rearranged in advanced T-cell lymphomas), originally identified in transplanted tumours of Moloney murine leukaemia virus ...
frizzled

frizzled  

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A family of ten G-protein-coupled receptors involved in the wnt signalling pathway and other signalling pathways. Ligand binding induces activation of dishevelled proteins in the cytoplasm and ...
glycogen synthase kinase

glycogen synthase kinase  

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A serine/threonine protein kinase (GSK, EC 2.7.11.26) present in two isoforms, GSK3-α (483 aa) and -β (420 aa), that is constitutively active in resting cells and is a negative regulator in various ...
int oncogenes

int oncogenes  

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Oncogenes first identified as genes activated by integration of mouse mammary tumour virus and causing the development of carcinomas. The nomenclature is therefore misleading: they are simply genes ...
lentoid

lentoid  

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1. Lens-shaped or lens-like.2. Lentoid bodies may form in vitro through aggregation of lens epithelial cells to form a spherical mass with a central core of lens-like cells containing crystallins. ...
osteopetrosis

osteopetrosis  

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(Albers-Schönberg disease, marble-bone disease) n. a congenital abnormality in which bones become abnormally dense and brittle and tend to fracture. Affected bones appear unusually opaque to X-rays. ...
patched

patched  

The human homologue of the Drosophila gene patched. PTCH1 encodes a transmembrane protein with homology to bacterial proton-driven transmembrane molecular transporters and represses genes encoding ...
polyposis

polyposis  

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n. a condition in which numerous polyps form in an organ or tissue. Familial adenomatous polyposis (FAP) is a hereditary disease (caused by a defective dominant gene) in which multiple adenomas ...
ryk

ryk  

An atypical receptor protein tyrosine kinase that functions as a coreceptor along with Frizzled for Wnt ligands and binds to dishevelled, through which it activates the canonical Wnt pathway.
T-cell factor

T-cell factor  

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(TCF)A family of transcription factors (lymphoid enhancer-binding factor (LEF), LEF/TCFs) that are important in the wnt/β-*catenin signalling cascade. The nomenclature is very confusing: TCF1 (T-cell ...

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