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Ware et al. (1997) determined that the scrambler phenotype arises from mutations in Dab1, a mouse gene related to the Drosophila gene 'disabled' (dab). [4] Disabled-1 (Dab1) is an adaptor protein that is essential for the intracellular transduction of Reelin signaling, which regulates the migration and differentiation of postmitotic neurons ...
5649 19699 Ensembl ENSG00000189056 ENSMUSG00000042453 UniProt P78509 Q60841 RefSeq (mRNA) NM_173054 NM_005045 NM_011261 NM_001310464 RefSeq (protein) NP_005036 NP_774959 NP_001297393 NP_035391 Location (UCSC) Chr 7: 103.47 – 103.99 Mb Chr 5: 22.09 – 22.55 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Reelin, encoded by the RELN gene, is a large secreted extracellular matrix ...
SCA1 is typically inherited from the parents in an autosomal dominant regime; the children of a person with the disease have a 50% chance of inheriting it themselves, and new mutations can occur in some cases. It is caused by an expanded number of trinucleotide repeats in the polyglutamine tract of the ATXN1 gene, which encodes the ataxin 1 ...
As a result, Dab1 is tyrosine phosphorylated and reelin is degraded. Finally, phosphorylated Dab1 activates an intracellular signaling cascade that directs neuroblasts to their proper location through the alteration of the cytoskeleton. [12] [16] Many of the specifics of this pathway are still being investigated. It is not yet known if Dab1 is ...
In early cortical development in mice, mutations of Dab1, VLDLR, and ApoER2, generate similar abnormal phenotypes, called reeler-like phenotype. It performs several abnormal processes in brain development, such as forming an outside to inside gradient, forming cells in an oblique orientation.
Major histocompatibility complex, class II, DQ beta 1, also known as HLA-DQB1, is a human gene and also denotes the genetic locus that contains this gene. [5] The protein encoded by this gene is one of two proteins that are required to form the DQ heterodimer, a cell surface receptor essential to the function of the immune system.
The CDC said the patient's sample showed mutations in the hemagglutinin (HA) gene, the part of the virus that plays a key role in it attaching to host cells. The mutations seen in the patient are ...
11614 Ensembl ENSG00000169297 ENSMUSG00000025056 UniProt P51843 Q61066 RefSeq (mRNA) NM_000475 NM_007430 RefSeq (protein) NP_000466 NP_000466.2 NP_031456 Location (UCSC) Chr X: 30.3 – 30.31 Mb Chr X: 85.24 – 85.24 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) is a nuclear receptor ...