alui restriction enzyme

Ophthal. design [PubMed: 1770532] [Full Text: https://doi.org/10.1210/jc.2005-2651], Stover, M. L., Primorac, D., Liu, S. C., McKinstry, M. B., Rowe, D. W. ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta. Genetics of the connective tissue proteins: assignment of the gene for human type I procollagen to chromosome 17 by analysis of cell hybrids and microcell hybrids. This results in a retrotransposon flagged by long terminal repeats at its ends. Cabral et al. Heat inactivation is a convenient method for stopping a restriction endonuclease reaction. A single base mutation in type I procollagen (COL1A1) that converts glycine alpha(1)-541 to aspartate in a lethal variant of osteogenesis imperfecta: detection of the mutation with a carbodiimide reaction of DNA heteroduplexes and direct sequencing of products of the PCR. PCR amplification around exon 6 of the alpha-1 cDNA produced 3 bands, one of a normal size, a second about 15 to 20 bp smaller, and a third equivalent to the product expected with deletion of the sequence of the entire exon 6. (1998) found that affected individuals were compound heterozygotes for 2 mutations in the COL4A4 gene: a C-to-T transition at nucleotide 4337 in exon 44, resulting in an arg1377-to-ter (R1377X) nonsense mutation; and a C-to-A transversion at nucleotide 5131 resulting in a cys1641-to-ter (C1641X; 120131.0005) nonsense mutation. (Abstract) J. Hum. Genet. Am. This bias supported the hypothesis that the level of triple-helix destabilization determines clinical outcome. [PubMed: 1867198, related citations], Dalgleish, R. In mice that inherited both genes, the incidence of the lethal fragile bone phenotype was reduced from 92 to 27%. The structure of the insertion was consistent with duplication of an approximately 600-bp segment in 1 allele. 62: 175-176, 1982. [Full Text], Lemmink, H. H., Schroder, C. H., Monnens, L. A. H., Smeets, H. J. M. The patient had bilateral hip dislocation, multiple subluxations of shoulders, elbows, and knees, arthrogryposis, clubfoot, and hypotonia. Therefore, the component peptides could be designed in such a way that glycine mutations were present in zero, 1, 2, or all 3 chains of the triple helix. J. Biol. Their distribution may be important in some genetic diseases and cancers. (2002) identified a heterozygous mutation in exon 32 of the COL4A4 gene, resulting in a gly960-to-arg (G960R) substitution. They assumed that this was a substitution for either arginine or serine (which could be accomplished by a single base change) because substitution of cysteine for glycine produced a much more drastic clinical picture. Makareeva et al. Personal Communication. In 2 Japanese sibs with features of 'OI IIC' (see 166210) but less distortion of the tubular bones (OI dense bone variant), Takagi et al. Byers (1990) described this mutation in OI type II (166210). In addition, more than 300 mutations in type I collagen associated with human connective tissue disorders had been described. The COL4A1 and COL4A2 chains are commonly found together in basement membrane and form heterotrimers. (2001) identified heterozygosity for a 761G-A transition in exon 11 of the COL1A1 gene, resulting in a gly76-to-glu (G76E) substitution. Triple helix formation is a prerequisite for the passage of type I procollagen from the endoplasmic reticulum and secretion from the cell to form extracellular fibrils that will support mineral deposition in bone. Complete primary structure of the human alpha-3(IV) collagen chain: coexpression of the alpha-3(IV) and alpha-4(IV) collagen chains in human tissues. [2], In the study by Herrera, cluster analysis was employed to ascertain relative gene flow and/or differences in effective population size among the four groups of Maya. Heart J. [Full Text: https://doi.org/10.1111/j.1469-1809.1984.tb00831.x]. Mayan genetics Variability among subgroups was not very pronounced. (1994) described type III OI in a patient with a G586V substitution in the alpha-2 chain of collagen I (120160.0023). Electron microscopy of a renal biopsy specimen showed regions with malformations of the GBM typical for Alport syndrome and regions that were thin. The results indicate that ancestors of the Mayas made a finite number of entries into the Americas over the Bering land bridge. The tails of either end of the Y chromosome are pseudoautosomal, which pairs with the homologous portions of the X chromosome [5] The chromosome itself hold 500 STRs, or repetitive sequences of copies of the genome that happen at a specific marker/place [5] containing 3-8-bp repeats. Studies indicate that ERCC5 plays a key role in carcinogenesis and its deficiency causes DNA repair defects, genomic instability and deregulated gene transcription (47). 44: 1581-1585, 2003. A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII. Results plot close similarities with the Inupiat people of Native Alaskan heritage, the Waiapi of central Brazil and the Tohono O'odham of northern Mexico. J. GUID:E1DD8B14-0792-4076-B235-3D4C6B259126, GUID:7F7A7569-C509-4B53-949D-105B07F17DB3, GUID:E919E5C9-2434-4D3A-BDE3-F21FA0799260, GUID:8A1EDF43-6437-49A3-A95E-0B6F00D2D6B9, GUID:ED2F2E17-70E6-4A13-B202-0BA81B8F51F0, GUID:7B134235-5D9F-4341-90B7-A3D6E5488E54, GUID:ADE36ED8-3200-4FD5-8D93-FA25E6E34DD4, GUID:7D80B8A4-5096-4B23-8FBB-B954F6DAD09D, GUID:C69A7526-413B-42A7-A855-31194F76F1AC, Emerging landscape of oncogenic signatures across human cancers, Amplification/overexpression of a mitotic kinase gene in human bladder cancer, Prognostic relevance of 20q13 gains in sporadic colorectal cancers: a FISH analysis, A putative serine/threonine kinase encoding gene BTAK on chromosome 20q13 is amplified and overexpressed in human breast cancer cell lines, Tumour amplified kinase STK15/BTAK induces centrosome amplification, aneuploidy and transformation, Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human, Phosphorylation by aurora kinase A 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with chromosomal instability in human breast cancers, Cre-loxP-controlled periodic Aurora-A overexpression induces mitotic abnormalities and hyperplasia in mammary glands of mouse models, Aurora A overexpression induces cellular senescence in mammary gland hyperplastic tumors developed in p53-deficient mice, Overexpression of aurora kinase A in mouse mammary epithelium induces genetic instability preceding mammary tumor formation, Position-independent expression of the ovine beta-lactoglobulin gene in transgenic mice, Tissue-specific, temporally regulated expression mediated by the proximal ovine beta-lactoglobulin promoter in transgenic mice, Analysis of array-CGH data using the R and Bioconductor software suite, A faster circular binary segmentation algorithm for the analysis of array CGH data, Estimation of tumor heterogeneity using CGH array data, Comprehensive molecular portraits of invasive lobular breast cancer, Comprehensive molecular portraits of human breast tumours, 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