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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.
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 ...
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 ...
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. ...
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 ...
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 ...
WISP

WISP  

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Regulatory proteins (Wnt-induced secreted proteins) of the CCN family of regulatory proteins expressed downstream of wnt and involved in morphological transformation. WISP-1 (367 aa), WISP-2 (250 ...

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