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- Talebizadeh Z, Kelley P, Askew J, Beisel K, Smith S. Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss. Hum Mutat. 1999;14:493-501 pubmed..Mutation analysis of KCNQ4 was also performed on 80 unrelated probands from families with recessive or dominant nonsyndromic hearing loss. None of these cases showed a truncated mutation in KCNQ4. ..
- Orten D, Fischer S, Sorensen J, Radhakrishna U, Cremers C, Marres H, et al. Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat. 2008;29:537-44 pubmed publisher..These results add considerably to the spectrum of EYA1 mutations associated with BOR and indicate that the BOR phenotype is an indication for molecular studies to diagnose EYA1-associated BOR. ..
- Wang X, Avigan M, Norgren R. FUSE-binding protein is developmentally regulated and is highly expressed in mouse and chicken embryonic brain. Neurosci Lett. 1998;252:191-4 pubmed..In the adult, expression was not detected in most tissues but was still prominent in the brain and teste. This finding is consistent with a dual role of the protein as a single-strand polynucleotide-binding protein. ..
- Sobolik Delmaire T, Katafiasz D, Wahl J. Carboxyl terminus of Plakophilin-1 recruits it to plasma membrane, whereas amino terminus recruits desmoplakin and promotes desmosome assembly. J Biol Chem. 2006;281:16962-70 pubmed..In addition, we showed that amino acids 1-34 in the amino terminus were necessary for subsequent recruitment of desmoplakin to the membrane and desmosome assembly...
- Xiao L, Scofield M, Jeffries W. Molecular cloning, expression and characterization of cDNA encoding a mouse alpha1a-adrenoceptor. Br J Pharmacol. 1998;124:213-21 pubmed..This response to NA could be reversed by pretreatment of the transfected cells with prazosin. 5. Based on the above evidence, we concluded that the cloned cDNA is that of the mouse alpha1a-adrenoceptor. ..
- Smith D, Baggenstoss B, Marion T, Rimerman R. Two FKBP-related proteins are associated with progesterone receptor complexes. J Biol Chem. 1993;268:18365-71 pubmed..While p50 appears to be the chicken homolog of FKBP52, p54 is perhaps a novel member of the FKBP family that, in addition to FKBP52, interacts with progesterone receptor. ..
- Turnquist H, Petersen J, Vargas S, McIlhaney M, Bedows E, Mayer W, et al. The Ig-like domain of tapasin influences intermolecular interactions. J Immunol. 2004;172:2976-84 pubmed..Taken together, these results reveal a critical role for the tapasin Ig-like domain in tapasin function. ..
- Prapapanich V, Chen S, Toran E, Rimerman R, Smith D. Mutational analysis of the hsp70-interacting protein Hip. Mol Cell Biol. 1996;16:6200-7 pubmed..In addition, some data suggest that hsp70's peptide-binding domain may alternately or concomitantly bind to Hip's GGMP repeat in a manner regulated by Sti1-related sequences. ..
- McDonald T, Larson M, Mack D, Weber A. Elevated extrahepatic expression and secretion of mammary-associated serum amyloid A 3 (M-SAA3) into colostrum. Vet Immunol Immunopathol. 2001;83:203-11 pubmed
- Schmidtke A, Hanson N. Role of ampD homologs in overproduction of AmpC in clinical isolates of Pseudomonas aeruginosa. Antimicrob Agents Chemother. 2008;52:3922-7 pubmed publisher..Overall, the findings of the present study indicate that there is still an unknown factor(s) that contributes to ampC regulation in P. aeruginosa. ..
- Samson M. Drosophila arginase is produced from a nonvital gene that contains the elav locus within its third intron. J Biol Chem. 2000;275:31107-14 pubmed..Preliminary characterization of the mutation shows that this recessive allele causes a developmental delay but does not affect viability. ..
- Crichton E, Bedows E, Miller Lindholm A, Baldwin D, Armstrong D, Graham L, et al. Efficacy of porcine gonadotropins for repeated stimulation of ovarian activity for oocyte retrieval and in vitro embryo production and cryopreservation in Siberian tigers (Panthera tigris altaica). Biol Reprod. 2003;68:105-13 pubmed..Together, these observations suggest that porcine gonadotropins may be effective for the ovarian stimulation of tigers but that some modifications to administration protocols are needed to produce a more natural response. ..
- Katafiasz B, Nieman M, Wheelock M, Johnson K. Characterization of cadherin-24, a novel alternatively spliced type II cadherin. J Biol Chem. 2003;278:27513-9 pubmed..In addition, aggregation assays show that both forms of cadherin-24 mediate strong cell-cell adhesion. ..
- Carlson K, Leisman G, Limoges J, Pohlman G, Horiba M, Buescher J, et al. Molecular characterization of a putative antiretroviral transcriptional factor, OTK18. J Immunol. 2004;172:381-91 pubmed..Our findings suggest that one possible function of OTK18 is as a HIV type 1-inducible transcriptional suppressor. ..
- Hart S, Knezetic J, Petzel D. Cloning and tissue distribution of two Na+/H+ exchangers from the Malpighian tubules of Aedes aegypti. Arch Insect Biochem Physiol. 2002;51:121-35 pubmed..Expression of both clones was also detected in adult mosquito ovaries, midguts, and hindguts. ..
- Spiegelstein O, Eudy J, Finnell R. Identification of two putative novel folate receptor genes in humans and mouse. Gene. 2000;258:117-25 pubmed..As the chromosomal locations of Folbp1 murine and Folbp2 genes were previously unknown, we utilized the same approach and mapped both genes to a region of mouse chromosome 7 that is syntenic to the human FR loci on chromosome 11q13. ..
- Matutte B, Conlon J. Characterization of insulin and atypically processed proglucagon-derived peptides from the surinam toad Pipa pipa (Anura:Pipidae). Peptides. 2000;21:1355-60 pubmed..In contrast, Pipa GLP-32 and GLP-37 are of the same molecular size as the corresponding peptides from Xenopus...
- Sumegi J, Huang D, Lanyi A, Davis J, Seemayer T, Maeda A, et al. Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease. Blood. 2000;96:3118-25 pubmed..These results suggest that unidentified factors, either environmental or genetic (eg, modifier genes), contribute to the pathogenesis of XLP. ..
- Conlon J, Secor S, Adrian T, Mynarcik D, Whittaker J. Purification and characterization of islet hormones (insulin, glucagon, pancreatic, polypeptide and somatostatin) from the Burmese python, Python molurus. Regul Pept. 1997;71:191-8 pubmed
- Kay H, Mountjoy C, Wu G, Cornish K, Smith L. Sequence of a cDNA encoding the p53 protein in rhesus monkey (Macaca mulatta). Gene. 1994;138:223-6 pubmed..The deduced amino acid (aa) sequence of the p53 protein is highly conserved between human and Rhesus monkey, with only 18 minor differences in 393 aa. ..
- Ali M, Knoop F, Vaudry H, Conlon J. Characterization of novel antimicrobial peptides from the skins of frogs of the Rana esculenta complex. Peptides. 2003;24:955-61 pubmed..It is proposed that the distribution and amino acid sequences of skin antimicrobial peptides may be useful markers for taxonomic classification of particular sub-populations and for an understanding of phylogenetic interrelationships...
- Asojo O, Goud G, Dhar K, Loukas A, Zhan B, Deumic V, et al. X-ray structure of Na-ASP-2, a pathogenesis-related-1 protein from the nematode parasite, Necator americanus, and a vaccine antigen for human hookworm infection. J Mol Biol. 2005;346:801-14 pubmed..From these modeling studies, possible binding modes were predicted. In addition, this first structure of a PR-1 protein from parasitic helminths may shed light on the molecular basis of host-parasite interactions...
- Alt J, Bouska A, Fernandez M, Cerny R, Xiao H, Eischen C. Mdm2 binds to Nbs1 at sites of DNA damage and regulates double strand break repair. J Biol Chem. 2005;280:18771-81 pubmed..Therefore, Nbs1 is a novel p53-independent Mdm2 binding protein and links Mdm2 to the Mre11-Nbs1-Rad50-regulated DNA repair response. ..