Genomes and Genes
Experts and Doctors on dna sequence analysis in Houston, Texas, United States
Locale: Houston, Texas, United States
Topic: dna sequence analysis
Publications144 found, 100 shown here
- Ansari Lari M, Shen Y, Muzny D, Lee W, Gibbs R. Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination. Genome Res. 1997;7:268-80 pubmed..The high number of genes with diverse functions and complex transcriptional patterns make this region ideal for addressing challenges of gene discovery and genomic characterization amenable to large-scale sequence analysis. ..
- Hejlik D, Kottickal L, Liang H, Fairman J, Davis T, Janecki T, et al. Localization of SMAD5 and its evaluation as a candidate myeloid tumor suppressor. Cancer Res. 1997;57:3779-83 pubmed
- Schaefer L, Prakash S, Zoghbi H. Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects. Genomics. 1997;46:268-77 pubmed..The possible role of the ARHGAP6 protein in the pathogenesis of MLS is discussed. ..
- Thomazy V, Davies P. Expression of tissue transglutaminase in the developing chicken limb is associated both with apoptosis and endochondral ossification. Cell Death Differ. 1999;6:146-54 pubmed..The dynamic pattern of transglutaminase expression during morphogenesis suggests that tissue remodeling is a major trigger for transglutaminase induction. ..
- Santos R, Hassan M, Sikandar S, Lee K, Ali G, Martin P, et al. DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2. Hum Genet. 2006;120:85-92 pubmed..9 cM and contains 1.4 Mb. The genes CTL2, KEAP1 and CDKN2D were screened but were negative for functional sequence variants. ..
- Kosmider B, Wells R. Double-strand breaks in the myotonic dystrophy type 1 and the fragile X syndrome triplet repeat sequences induce different types of mutations in DNA flanking sequences in Escherichia coli. Nucleic Acids Res. 2006;34:5369-82 pubmed..Non-B DNA structures (slipped structures with loops, cruciforms, triplexes and tetraplexes) as well as microhomologies are postulated to participate in the recombination and/or repair processes. ..
- Childress J, Acar M, Tao C, Halder G. Lethal giant discs, a novel C2-domain protein, restricts notch activation during endocytosis. Curr Biol. 2006;16:2228-33 pubmed..Taken together, our data identify Lgd as a novel tumor-suppressor protein that regulates Notch signaling by targeting Notch for degradation or recycling. ..
- LeMaire S, Pannu H, Tran Fadulu V, Carter S, Coselli J, Milewicz D. Severe aortic and arterial aneurysms associated with a TGFBR2 mutation. Nat Clin Pract Cardiovasc Med. 2007;4:167-71 pubmed..Genetic testing also revealed a de novo mutation in transforming growth factor beta receptor 2. Regular cardiovascular surveillance for aneurysms and dissections, and aggressive surgical treatment of vascular disease. ..
- Han X, Dé I, Jacobson K. Rapidly growing mycobacteria: clinical and microbiologic studies of 115 cases. Am J Clin Pathol. 2007;128:612-21 pubmed..Prior lung injuries and coisolation of other pathogenic organisms were common. Overall, 78 RGM strains (67.8%) caused true to probable infections without direct deaths. ..
- Brinkman M, McGill M, Pettersson J, Rogers A, Matejková P, Smajs D, et al. A novel Treponema pallidum antigen, TP0136, is an outer membrane protein that binds human fibronectin. Infect Immun. 2008;76:1848-57 pubmed publisher..These results demonstrate that TP0136 is expressed on the outer membrane of the treponeme during infection and may be involved in attachment to host extracellular matrix components...
- Han X, Sizer K, Thompson E, Kabanja J, Li J, Hu P, et al. Comparative sequence analysis of Mycobacterium leprae and the new leprosy-causing Mycobacterium lepromatosis. J Bacteriol. 2009;191:6067-74 pubmed publisher..Taken together, the results described above indicate that M. lepromatosis and M. leprae diverged from a common ancestor after the massive gene inactivation event described previously for M. leprae. ..
- Amos C, Spitz M, Cinciripini P. Chipping away at the genetics of smoking behavior. Nat Genet. 2010;42:366-8 pubmed publisher..Three large consortia present comprehensive analyses that identify genetic factors influencing smoking initiation, intensity and cessation. The genetic architecture of these three phases of smoking behavior appears to be largely distinct. ..
- Hong Y, Kim S, Bhattacharya A, Pratt D, Hong W, Tainsky M. Structure and function of the HOX A1 human homeobox gene cDNA. Gene. 1995;159:209-14 pubmed..4-kb RA-sensitive HOX A4 (1.4) promoter-cat reporter. We found no effect of HOX A1 on the HOX A4 promoter. However, cotransfection of HOX A5 (1.3) was able to inhibit the HOX A4 promoter activity. ..
- Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, et al. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell. 1995;81:15-25 pubmed..These data indicate that CDPX is caused by an inherited deficiency of a novel sulfatase and suggest that warfarin embryopathy might involve drug-induced inhibition of the same enzyme...
- Sampson M, Lovell R, Craigen W. The murine voltage-dependent anion channel gene family. Conserved structure and function. J Biol Chem. 1997;272:18966-73 pubmed..VDAC3, however, is only able to partially complement the mutant phenotype, suggesting an alternative physiologic function for the VDAC3 protein. ..
- Dye C, Lee J, Atkinson R, Brewster R, Han P, Bellen H. The Drosophila sanpodo gene controls sibling cell fate and encodes a tropomodulin homolog, an actin/tropomyosin-associated protein. Development. 1998;125:1845-56 pubmed..Loss of sanpodo leads to an aberrant F-actin distribution and causes differentiation defects of actin-containing sensory structures. Our data suggest that an actin-based process is involved in Notch signaling. ..
- Xu Y, Murray B, Weinstock G. A cluster of genes involved in polysaccharide biosynthesis from Enterococcus faecalis OG1RF. Infect Immun. 1998;66:4313-23 pubmed..Insertions in several genes within the cluster abolished the immunoreactivity of the clone. This is the first report on a gene cluster of E. faecalis involved in the biosynthesis of an antigenic polysaccharide...
- Xu P, Winston J, Datta S, Kellems R. Regulation of forestomach-specific expression of the murine adenosine deaminase gene. J Biol Chem. 1999;274:10316-23 pubmed..Mutational analysis revealed the functional importance of multiple transcription factor-binding sites. ..
- Wu Y, Lin X, Liu C, Jamrich M, Shaffer L. Identification of a human brain-specific gene, calneuron 1, a new member of the calmodulin superfamily. Mol Genet Metab. 2001;72:343-50 pubmed
- Parant J, Reinke V, Mims B, Lozano G. Organization, expression, and localization of the murine mdmx gene and pseudogene. Gene. 2001;270:277-83 pubmed..Additionally, a pseudogene for mdmx was also identified that resides on the mouse X chromosome. Expression analysis of mdmx transcripts during mouse embryogenesis revealed constitutive and ubiquitous expression throughout development. ..
- Aradhya S, Woffendin H, Bonnen P, Heiss N, Yamagata T, Esposito T, et al. Physical and genetic characterization reveals a pseudogene, an evolutionary junction, and unstable loci in distal Xq28. Genomics. 2002;79:31-40 pubmed..Collectively, these data highlight some interesting features of the genomic sequence in Xq28 and will be useful for positional cloning efforts, mouse mutagenesis studies, and further evolutionary analyses. ..
- Davis B, Cook R, Rich R, Rodgers J. Hyperconservation of the putative antigen recognition site of the MHC class I-b molecule TL in the subfamily Murinae: evidence that thymus leukemia antigen is an ancient mammalian gene. J Immunol. 2002;169:6890-9 pubmed..Our results strengthen the hypotheses that TL has evolved a specialized function and represents an ancient MHC class I-b gene. ..
- Han Z, Saam J, Adams H, Mango S, Schumacher J. The C. elegans Tousled-like kinase (TLK-1) has an essential role in transcription. Curr Biol. 2003;13:1921-9 pubmed..In addition, our results confirm that the link between RNAPII phosphorylation and histone H3 methylation previously observed in budding yeast is functionally conserved in metazoans. ..
- López Millán A, Ellis D, Grusak M. Identification and characterization of several new members of the ZIP family of metal ion transporters in Medicago truncatula. Plant Mol Biol. 2004;54:583-96 pubmed..Characterizing these proteins in a single organism will allow us to understand the interplay between various ZIP genes, and the role they play in the regulation/execution of plant metal homeostasis...
- Graham B, Craigen W. Mitochondrial voltage-dependent anion channel gene family in Drosophila melanogaster: complex patterns of evolution, genomic organization, and developmental expression. Mol Genet Metab. 2005;85:308-17 pubmed
- Li K, Wang S, Li Y, Martin R, Li L, Lu M, et al. Identification and expression of a new type II transmembrane protein in human mast cells. Genomics. 2005;86:68-75 pubmed..Immunochemical staining of human lung sections showed that MCEMP1 staining is specifically associated with lung mast cells. ..
- Shen L, Kondo Y, Rosner G, Xiao L, Hernandez N, Vilaythong J, et al. MGMT promoter methylation and field defect in sporadic colorectal cancer. J Natl Cancer Inst. 2005;97:1330-8 pubmed..13). Some colorectal cancers arise from a field defect defined by epigenetic inactivation of MGMT. Detection of this abnormality may ultimately be useful in risk assessment for colorectal cancer. ..
- Li G, Yin W, Chamberlain R, Hewett Emmett D, Roberts J, Yang X, et al. Identification and characterization of the human retinoid X receptor alpha gene promoter. Gene. 2006;372:118-27 pubmed..In addition, the 5' untranslated region of RXRalpha is highly G+C rich, resulting in a potentially stable folding pattern, that would place RXRalpha amongst a group of genes that are subject to regulation at the translational level. ..
- Wong L, Dai P, Lu J, Lou M, Clarke R, Nazarov V. AIB1 gene amplification and the instability of polyQ encoding sequence in breast cancer cell lines. BMC Cancer. 2006;6:111 pubmed..The instability and the sequence characteristics, however, do not appear to be associated with the level of the gene amplification. ..
- Lu W, Zhu H, Wen S, Yang W, Shaw G, Lammer E, et al. Nicotinamide N-methyl transferase (NNMT) gene polymorphisms and risk for spina bifida. Birth Defects Res A Clin Mol Teratol. 2008;82:670-5 pubmed publisher..0). No association was found between infant NNMT gene variants and risk for spina bifida in our study population. However, small sample sizes for most variant groups and for phase-unknown haplotype data limited the power of the study. ..
- Singh R, Ledesma K, Chang K, Hou J, Prince R, Tam V. Pharmacodynamics of moxifloxacin against a high inoculum of Escherichia coli in an in vitro infection model. J Antimicrob Chemother. 2009;64:556-62 pubmed publisher..coli. The clinical dose of moxifloxacin (400 mg/day) was adequate to suppress resistance development in three wild-type strains. Clinical relevance of these findings warrants further in vivo investigation. ..
- Rothnagel J, Longley M, Holder R, Kuster W, Roop D. Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. J Invest Dermatol. 1994;102:13-6 pubmed..Given this high degree of conservation it is probable that any mutation at this position is deleterious and will result in disease. ..
- Schiaffino M, Bassi M, Rugarli E, Renieri A, Galli L, Ballabio A. Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. Hum Mol Genet. 1995;4:373-82 pubmed..No functionally significant mutation was identified, suggesting that APXL is not directly involved in OA1. Further studies are needed to clarify the physiologic role of this highly conserved gene...
- Miano J, Firulli A, Olson E, Hara P, Giachelli C, Schwartz S. Restricted expression of homeobox genes distinguishes fetal from adult human smooth muscle cells. Proc Natl Acad Sci U S A. 1996;93:900-5 pubmed
- Margolin W, Wang R, Kumar M. Isolation of an ftsZ homolog from the archaebacterium Halobacterium salinarium: implications for the evolution of FtsZ and tubulin. J Bacteriol. 1996;178:1320-7 pubmed..Phylogenetic analysis demonstrated that the H. salinarium FtsZ protein is more related to tubulins than are the FtsZ proteins of eubacteria, supporting the hypothesis that FtsZ may have evolved into eukaryotic tubulin...
- Sharan S, Bradley A. Murine Brca2: sequence, map position, and expression pattern. Genomics. 1997;40:234-41 pubmed..Expression of Brca2 was detected in midgestation embryos and adult testis, thymus, and ovary. ..
- Boettger Tong H, Agulnik A, Ty T, Bishop C. Transposition of RhoA to the murine Y chromosome. Genomics. 1998;49:180-7 pubmed..The data indicate that the Y copies of RhoA have been transposed from an autosome, followed by subsequent duplication, sequence divergence, and acquisition of a testis-specific promoter/enhancer. ..
- Carter B, Shi Z, Barrios R, Lieberman M. gamma-glutamyl leukotrienase, a gamma-glutamyl transpeptidase gene family member, is expressed primarily in spleen. J Biol Chem. 1998;273:28277-85 pubmed..GGL is widely distributed in mice, suggesting an important role for this enzyme. ..
- Guo B, Brown E, Dorward D, Rosenberg L, Hook M. Decorin-binding adhesins from Borrelia burgdorferi. Mol Microbiol. 1998;30:711-23 pubmed..Taken together, these data suggest that Dbps are adhesins of the MSCRAMM (microbial surface component-recognizing adhesive matrix molecule) family, which mediate B. burgdorferi attachment to the extracellular matrix of the host. ..
- Willmroth F, Beaudet A. Structure of the murine E-selectin ligand 1 (ESL-1) gene and assignment to Chromosome 8. Mamm Genome. 1999;10:1085-8 pubmed..It maps to murine Chromosome (Chr) 8 in a region homologous to human Chr 16q where the GLG1 locus maps, further indicating that Selel and GLG1 are mouse and human equivalents of the same gene. ..
- Schwab K, Neill F, Fankhauser R, Daniels N, Monroe S, Bergmire Sweat D, et al. Development of methods to detect "Norwalk-like viruses" (NLVs) and hepatitis A virus in delicatessen foods: application to a food-borne NLV outbreak. Appl Environ Microbiol. 2000;66:213-8 pubmed..Sequence analysis of the PCR-amplified capsid region of the genome indicated that the sequence was identical to the sequence from virus detected in the stools of ill students. The developed method is rapid, simple, and efficient. ..
- Inoue K, Dewar K, Katsanis N, Reiter L, Lander E, Devon K, et al. The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes. Genome Res. 2001;11:1018-33 pubmed..Analyses of the genomic region adjacent to proximal CMT1A-REP indicated an evolutionary mechanism for the formation of proximal CMT1A-REP and the creation of novel genes by DNA rearrangement during primate speciation. ..
- Li D, Bachinski L, Roberts R. Genomic organization and isoform-specific tissue expression of human NAPOR (CUGBP2) as a candidate gene for familial arrhythmogenic right ventricular dysplasia. Genomics. 2001;74:396-401 pubmed..While the function of NAPOR remains to be elucidated, our current characterization of the NAPOR gene will be valuable for further clinical and functional study. ..
- Clarridge J, Zhang Q. Genotypic diversity of clinical Actinomyces species: phenotype, source, and disease correlation among genospecies. J Clin Microbiol. 2002;40:3442-8 pubmed..It is our hope that this large group of well-defined strains will be used to find a simple and accurate biochemical test for differentiation of the species in routine laboratories. ..
- Strych U, Davlieva M, Longtin J, Murphy E, Im H, Benedik M, et al. Purification and preliminary crystallization of alanine racemase from Streptococcus pneumoniae. BMC Microbiol. 2007;7:40 pubmed..pneumoniae. The enzyme shows sufficient homology with other alanine racemases to allow its integration into our ongoing structure-based drug design project. ..
- Fong Y, Lopez Terrada D, Zhai Q. Primary Ewing sarcoma/peripheral primitive neuroectodermal tumor of the vulva. Hum Pathol. 2008;39:1535-9 pubmed publisher..This report described another very rare case of ES/pPNET arising in the vulva and confirmed by molecular analysis. ..
- Maheshwari M, Shi J, Badner J, Skol A, Willour V, Muzny D, et al. Common and rare variants of DAOA in bipolar disorder. Am J Med Genet B Neuropsychiatr Genet. 2009;150B:960-6 pubmed publisher..Our results suggest that DAOA does not have a major effect on BP susceptibility. However, DAOA may contribute to bipolar susceptibility in some specific families as evidenced by the STEPC analysis. ..
- Wen S, Zhu H, Lu W, Mitchell L, Shaw G, Lammer E, et al. Planar cell polarity pathway genes and risk for spina bifida. Am J Med Genet A. 2010;152A:299-304 pubmed publisher..01. In conclusion, our results, though largely negative, suggest that the PRICKLE2 gene may potentially modify the risk of spina bifida and deserves further investigation. ..
- Lupski J, Reid J, Gonzaga Jauregui C, Rio Deiros D, Chen D, Nazareth L, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010;362:1181-91 pubmed publisher..As shown in this study of a family with Charcot-Marie-Tooth disease, whole-genome sequencing can identify clinically relevant variants and provide diagnostic information to inform the care of patients. ..
- Ajami N, Koo H, Darkoh C, Atmar R, Okhuysen P, Jiang Z, et al. Characterization of norovirus-associated traveler's diarrhea. Clin Infect Dis. 2010;51:123-30 pubmed publisher..NoV strains are important causes of traveler's diarrhea in Mexico, especially during the wintertime, and US students in Mexico may represent a suitable group for future NoV vaccine efficacy trials. ..
- Xi Y, Li W. BSMAP: whole genome bisulfite sequence MAPping program. BMC Bioinformatics. 2009;10:232 pubmed publisher..It is able to map high-throughput bisulfite reads at whole genome level with feasible memory and CPU usage. It is freely available under GPL v3 license at http://code.google.com/p/bsmap/. ..
- Boerkoel C, Takashima H, Stankiewicz P, Garcia C, Leber S, Rhee Morris L, et al. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet. 2001;68:325-33 pubmed..13-13.2, a region recently associated with a severe autosomal recessive demyelinating neuropathy in a Lebanese family (Delague et al. 2000) and syntenic to the location of Prx on murine chromosome 7 (Gillespie et al. 1997). ..
- Byrd M, Zamora M, Lloyd R. Generation of multiple isoforms of eukaryotic translation initiation factor 4GI by use of alternate translation initiation codons. Mol Cell Biol. 2002;22:4499-511 pubmed..Our data suggest that expression of the eIF4GI isoforms is partly controlled by a complex translation strategy involving both cap-dependent and cap-independent mechanisms. ..
- Gunaratne P, Wu J, Garcia A, Hulyk S, Worley K, Margolin J, et al. Concatenation cDNA sequencing for transcriptome analysis. C R Biol. 2003;326:971-7 pubmed..Using this concatenation cDNA sequencing platform, we have contributed more than 13000 full-length cDNA sequences from human and mouse to the Mammalian Gene Collection (MGC). ..
- Boles M, Wilkinson B, Maxwell A, Lai L, Mills A, Nishijima I, et al. A mouse chromosome 4 balancer ENU-mutagenesis screen isolates eleven lethal lines. BMC Genet. 2009;10:12 pubmed publisher..The low number of mutations isolated in this screen compared with other balancer chromosome screens indicates that the functions of genes in different regions of the genome vary widely. ..
- Majumder K, De Biasi M, Wang Z, Wible B. Molecular cloning and functional expression of a novel potassium channel beta-subunit from human atrium. FEBS Lett. 1995;361:13-6 pubmed..By contrast, hKv beta 3 had no effect on hKv1.1, hKv1.2, or hKv2.1 currents. Thus, hKv beta 3 represents a third type of K+ channel beta-subunit which modulates the kinetics of a unique subset of channels in the Kv1 subfamily. ..
- Thomas D, Schaack J, Vogel H, Javier R. Several E4 region functions influence mammary tumorigenesis by human adenovirus type 9. J Virol. 2001;75:557-68 pubmed
- Yakub I, Lillibridge K, Moran A, Gonzalez O, Belmont J, Gibbs R, et al. Single nucleotide polymorphisms in genes for 2'-5'-oligoadenylate synthetase and RNase L inpatients hospitalized with West Nile virus infection. J Infect Dis. 2005;192:1741-8 pubmed
- Matsuura T, Fang P, Pearson C, Jayakar P, Ashizawa T, Roa B, et al. Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?. Am J Hum Genet. 2006;78:125-9 pubmed..Our findings for SCA10 challenge this convention and suggest that the purity of the expanded repeat element may be a disease modifier. ..
- Gaikwad A, Rye C, Devidas M, Heerema N, Carroll A, Izraeli S, et al. Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia. Br J Haematol. 2009;144:930-2 pubmed publisher..03), occurred once in association with high hyperdiploidy and were not significantly correlated with age, initial white blood count, or event-free survival. Our results confirm the significance of JAK-STAT pathway activation in DS ALL. ..
- Aparicio A, North B, Barske L, Wang X, Bollati V, Weisenberger D, et al. LINE-1 methylation in plasma DNA as a biomarker of activity of DNA methylation inhibitors in patients with solid tumors. Epigenetics. 2009;4:176-84 pubmed..Ongoing studies will determine whether changes in LINE-1 methylation in plasma DNA occur as a result of treatment with DNA methylation inhibitors and parallel changes in tumor tissue DNA. ..
- Shi Z, Cai Z, Wen S, Chen C, Gendron C, Sanchez A, et al. Transcriptional regulation of the novel Toll-like receptor Tlr13. J Biol Chem. 2009;284:20540-7 pubmed publisher..Thus, these findings reveal the mechanism of Tlr13 gene regulation, thereby providing insight into the function of Tlr13 in the immune response to pathogen. ..
- Guo D, Bowden M, Pershad R, Kaplan H. The Myxococcus xanthus rfbABC operon encodes an ATP-binding cassette transporter homolog required for O-antigen biosynthesis and multicellular development. J Bacteriol. 1996;178:1631-9 pubmed..These data indicate that the sasA locus is required for the biosynthesis of O-antigen and, when mutated, results in A-signal-independent expression of 4521. ..
- Szafranski P, Smith C, Cantor C. Principal transcription sigma factors of Pseudomonas putida strains mt-2 and G1 are significantly different. Gene. 1997;204:133-8 pubmed..putida strain G1 shows that the two proteins differ in their primary structure, molecular weight, and isoelectric point. The significance of this difference is discussed in terms of bacterial taxonomy and transcription regulation. ..
- Kehl B, Cho K, Choi K. mirror, a Drosophila homeobox gene in the Iroquois complex, is required for sensory organ and alula formation. Development. 1998;125:1217-27 pubmed
- He X, Hayashi N, Walcott N, Azuma Y, Patterson T, Bischoff F, et al. The identification of cDNAs that affect the mitosis-to-interphase transition in Schizosaccharomyces pombe, including sbp1, which encodes a spi1p-GTP-binding protein. Genetics. 1998;148:645-56 pubmed..med2 and med3 encode novel fission yeast proteins that, based on our phenotypic analyses, are likely to identify additional regulators or effectors of the spi1p GTPase system. ..
- Ran Q, Pereira Smith O. Identification of an alternatively spliced form of the Tat interactive protein (Tip60), Tip60(beta). Gene. 2000;258:141-6 pubmed..The results suggest that Tip60beta may have functions additional to those of Tip60alpha in cells and tissues. ..
- Chan A, Kim S, Bedeir A, Issa J, Hamilton S, Rashid A. CpG island methylation in carcinoid and pancreatic endocrine tumors. Oncogene. 2003;22:924-34 pubmed..03). Loss of p16 protein expression correlated with methylation of p16 gene in carcinoid tumors (p = 0.006). Our study indicates that methylation profile of carcinoid tumors differs from PETs, reflecting different molecular pathogenesis. ..
- Wang L, Gannavarapu A, Kozinetz C, Levy M, Lewis R, Chintagumpala M, et al. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst. 2003;95:669-74 pubmed..Molecular diagnosis has the potential to identify those children with RTS who are at high risk of this cancer. ..
- Zhu H, Lu W, Laurent C, Shaw G, Lammer E, Finnell R. Genes encoding catalytic subunits of protein kinase A and risk of spina bifida. Birth Defects Res A Clin Mol Teratol. 2005;73:591-6 pubmed..In addition, interactions with other genes such as Sonic Hedgehog (SHH) should also be considered for future investigations. ..
- Barski O, Papusha V, Kunkel G, Gabbay K. Regulation of aldehyde reductase expression by STAF and CHOP. Genomics. 2004;83:119-29 pubmed..This subtle difference in the human promoter suggests a further evolution of the promoter toward responsiveness to exogenous stress and/or toxins. ..
- Anaya P, Evans S, Dai C, Lozano G, May G. Isolation of the Aspergillus nidulans sudD gene and its human homologue. Gene. 1998;211:323-9 pubmed..The predicted proteins are approximately 60000Da in mass and have a serine-plus-threonine content of about 11%. The evolutionary conservation of the proteins suggests an ancient origin and conserved function for these proteins. ..
- Kwon D, Woo J, Perng C, Go M, Graham D, el Zaatari F. The effect of galE gene inactivation on lipopolysaccharide profile of Helicobacter pylori. Curr Microbiol. 1998;37:144-8 pubmed..The LPS profile from the galE-knockout H. pylori strain showed a lower molecular weight than that of the parental strain, indicating the involvement of the galE gene in LPS biosynthesis of H. pylori...
- Wang L, Liu H, Zhang Z, Spitz M, Wei Q. Association of genetic variants of O6-methylguanine-DNA methyltransferase with risk of lung cancer in non-Hispanic Whites. Cancer Epidemiol Biomarkers Prev. 2006;15:2364-9 pubmed..Our findings suggest that non-synonymous SNPs in MGMT are associated with modestly increased risk of lung cancer in Caucasians and need to be further investigated. ..
- Sohocki M, Sullivan L, Harrison W, Sodergren E, Elder F, Weinstock G, et al. Human glutamate pyruvate transaminase (GPT): localization to 8q24.3, cDNA and genomic sequences, and polymorphic sites. Genomics. 1997;40:247-52 pubmed..In addition, this will be a useful system for characterizing the telomeric region of 8q. Finally, determination of the molecular basis of the GPT isozyme variants will permit PCR-based detection of this world-wide polymorphism. ..
- Ansari Lari M, Oeltjen J, Schwartz S, Zhang Z, Muzny D, Lu J, et al. Comparative sequence analysis of a gene-rich cluster at human chromosome 12p13 and its syntenic region in mouse chromosome 6. Genome Res. 1998;8:29-40 pubmed
- Vigil K, Johnson J, Johnston B, Kontoyiannis D, Mulanovich V, Raad I, et al. Escherichia coli Pyomyositis: an emerging infectious disease among patients with hematologic malignancies. Clin Infect Dis. 2010;50:374-80 pubmed publisher..Awareness of this emerging syndrome and the usual causative agent is important to ensure appropriate management when febrile, neutropenic patients with hematologic malignancy exhibit signs of localized muscle infection. ..
- Zhou Y, Zheng J, Gu X, Li W, Saunders G. A novel Pax-6 binding site in rodent B1 repetitive elements: coevolution between developmental regulation and repeated elements?. Gene. 2000;245:319-28 pubmed
- McLeod M, Qin X, Karpathy S, Gioia J, Highlander S, Fox G, et al. Complete genome sequence of Rickettsia typhi and comparison with sequences of other rickettsiae. J Bacteriol. 2004;186:5842-55 pubmed..conorii) groups diverged. The three-way comparison allowed further in silico analysis of the SpoT split genes, leading us to propose that the stringent response system is still functional in these rickettsiae...
- Lu W, Zhu H, Wen S, Laurent C, Shaw G, Lammer E, et al. Screening for novel PAX3 polymorphisms and risks of spina bifida. Birth Defects Res A Clin Mol Teratol. 2007;79:45-9 pubmed..However, additional follow-up of the PAX3 gene variant T-1186C (rs16863657) and its related haplotype, TCTCCGCCC, may be important in other populations. ..
- Nallapareddy S, Singh K, Okhuysen P, Murray B. A functional collagen adhesin gene, acm, in clinical isolates of Enterococcus faecium correlates with the recent success of this emerging nosocomial pathogen. Infect Immun. 2008;76:4110-9 pubmed publisher..faecium genogroup referred to as clonal complex 17 (CC17), which has emerged globally. Taken together, our findings support the hypothesis that Acm has contributed to the emergence of E. faecium and CC17 in nosocomial infections. ..
- Patel N, Hertel P, Estes M, De La Morena M, Petru A, Noroski L, et al. Vaccine-acquired rotavirus in infants with severe combined immunodeficiency. N Engl J Med. 2010;362:314-9 pubmed publisher..These infections raise concerns regarding the safety of rotavirus vaccine in severely immunocompromised patients. ..
- Oeltjen J, Malley T, Muzny D, Miller W, Gibbs R, Belmont J. Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains. Genome Res. 1997;7:315-29 pubmed..These data show the usefulness of large scale sequence comparisons to focus investigation on regions of noncoding sequence that play essential roles in complex gene regulation. ..
- Buyse I, Fang P, Hoon K, Amir R, Zoghbi H, Roa B. Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. Am J Hum Genet. 2000;67:1428-36 pubmed..We conclude that this two-tiered approach provides a sensitive, robust, and efficient strategy for RTT molecular diagnosis. ..
- Fohn L, Behringer R. ESX1L, a novel X chromosome-linked human homeobox gene expressed in the placenta and testis. Genomics. 2001;74:105-8 pubmed..The findings that there are similarities between ESXR1 and Esx1, yet differences between their encoded products, are consistent with the idea that placental genes evolve rapidly between mammalian species. ..
- Yang A, Estecio M, Doshi K, Kondo Y, Tajara E, Issa J. A simple method for estimating global DNA methylation using bisulfite PCR of repetitive DNA elements. Nucleic Acids Res. 2004;32:e38 pubmed..This method can be used as a surrogate marker of genome-wide methylation changes. In addition, it is less labor intensive and requires less DNA than previous methods of assessing global DNA methylation. ..
- Metzker M. Sequencing technologies - the next generation. Nat Rev Genet. 2010;11:31-46 pubmed publisher..I also outline the broad range of applications for NGS technologies, in addition to providing guidelines for platform selection to address biological questions of interest. ..
- Stewart A, Lednicky J, Butel J. Sequence analyses of human tumor-associated SV40 DNAs and SV40 viral isolates from monkeys and humans. J Neurovirol. 1998;4:182-93 pubmed..There was no compelling evidence for human-specific strains of SV40 or for tumor type-specific associations, suggesting that SV40 has a relatively broad host range. The source of the viral DNA found in human tumors remains unknown. ..
- Burgess D, Matsuura T, Ashizawa T, Noebels J. Genetic localization of the Ca2+ channel gene CACNG2 near SCA10 on chromosome 22q13. Epilepsia. 2000;41:24-7 pubmed..In addition, our data clarify the relation between the physical and genetic linkage maps of this region and will facilitate isolation of the SCA10 gene. ..
- Sheng X, Koul D, Liu J, Liu T, Yung W. Promoter analysis of tumor suppressor gene PTEN: identification of minimum promoter region. Biochem Biophys Res Commun. 2002;292:422-6 pubmed..Interestingly, a p53 binding sequence is located within the 599 bp fragment (-1344/-745), although p53 expression had a minimal effect on PTEN, demonstrating its insignificant role in PTEN gene expression. ..