Search Results - "Hollox, Edward J."

A comparison of software for analysis of rare and common short tandem repeat (STR) variation using human genome sequences from clinical and population-based samples by Oketch, John W, Wain, Louise V, Hollox, Edward J

“…Short tandem repeat (STR) variation is an often overlooked source of variation between genomes. STRs comprise about 3% of the human genome and are highly…”
Get full text

β-Defensin gene copy number variation in cattle by Sidekli, Ozge, Oketch, John, Fair, Sean, Meade, Kieran G, Hollox, Edward J

“…β-Defensins are peptides with antimicrobial roles, characterized by a conserved tertiary structure. Beyond antimicrobial functions, they exhibit diverse roles…”
Get full text

Extensive variation in the intelectin gene family in laboratory and wild mouse strains by Almalki, Faisal, Nonnecke, Eric B., Castillo, Patricia A., Bevin-Holder, Alex, Ullrich, Kristian K., Lönnerdal, Bo, Odenthal-Hesse, Linda, Bevins, Charles L., Hollox, Edward J.

“…Intelectins are a family of multimeric secreted proteins that bind microbe-specific glycans. Both genetic and functional studies have suggested that…”
Get full text

Human intelectin-1 (ITLN1) genetic variation and intestinal expression by Nonnecke, Eric B., Castillo, Patricia A., Dugan, Amanda E., Almalki, Faisal, Underwood, Mark A., De La Motte, Carol A., Yuan, Weirong, Lu, Wuyuan, Shen, Bo, Johansson, Malin E. V., Kiessling, Laura L., Hollox, Edward J., Lönnerdal, Bo, Bevins, Charles L.

“…Intelectins are ancient carbohydrate binding proteins, spanning chordate evolution and implicated in multiple human diseases. Previous GWAS have linked SNPs in…”
Get full text

Evolution of the rapidly mutating human salivary agglutinin gene (DMBT1) and population subsistence strategy by Polley, Shamik, Louzada, Sandra, Forni, Diego, Sironi, Manuela, Balaskas, Theodosius, Hains, David S., Yang, Fengtang, Hollox, Edward J.

“…The dietary change resulting from the domestication of plant and animal species and development of agriculture at different locations across the world was one…”
Get full text

Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank by Fawcett, Katherine A, Demidov, German, Shrine, Nick, Paynton, Megan L, Ossowski, Stephan, Sayers, Ian, Wain, Louise V, Hollox, Edward J

“…The role of copy number variants (CNVs) in susceptibility to asthma is not well understood. This is, in part, due to the difficulty of accurately measuring…”
Get full text

Structural variation of the malaria-associated human glycophorin A-B-E region by Louzada, Sandra, Algady, Walid, Weyell, Eleanor, Zuccherato, Luciana W, Brajer, Paulina, Almalki, Faisal, Scliar, Marilia O, Naslavsky, Michel S, Yamamoto, Guilherme L, Duarte, Yeda A O, Passos-Bueno, Maria Rita, Zatz, Mayana, Yang, Fengtang, Hollox, Edward J

“…Approximately 5% of the human genome shows common structural variation, which is enriched for genes involved in the immune response and cell-cell interactions…”
Get full text

Variation of rs3754689 at lactase gene and inhibitors in admixed Brazilian patients with hemophilia A by Zuccherato, Luciana W, Elói-Santos, Silvana M, Jardim, Letícia L, Camelo, Ricardo M, Chaves, Daniel G, Souza, Renan P, Hollox, Edward J, Rezende, Suely M

Get full text

Balancing selection at the human salivary agglutinin gene (DMBT1) driven by host-microbe interactions by Alharbi, Adel F., Sheng, Nongfei, Nicol, Katie, Strömberg, Nicklas, Hollox, Edward J.

“…Discovering loci under balancing selection in humans can identify loci with alleles that affect response to the environment and disease. Genome variation data…”
Get full text

Evolutionary History of Copy-Number-Variable Locus for the Low-Affinity Fcγ Receptor: Mutation Rate, Autoimmune Disease, and the Legacy of Helminth Infection by Machado, Lee R., Hardwick, Robert J., Bowdrey, Jennifer, Bogle, Helen, Knowles, Timothy J., Sironi, Manuela, Hollox, Edward J.

“…Both sequence variation and copy-number variation (CNV) of the genes encoding receptors for immunoglobulin G (Fcγ receptors) have been genetically and…”
Get full text

Defensins and the dynamic genome: what we can learn from structural variation at human chromosome band 8p23.1 by Hollox, Edward J, Barber, John C K, Brookes, Anthony J, Armour, John A L

“…Over the past four years, genome-wide studies have uncovered numerous examples of structural variation in the human genome. This includes structural variation…”
Get full text

Copy number variation of the beta defensin gene cluster on chromosome 8p influences the bacterial microbiota within the nasopharynx of otitis-prone children by Jones, Eric A, Kananurak, Anchasa, Bevins, Charles L, Hollox, Edward J, Bakaletz, Lauren O

“…As there is increasing evidence that aberrant defensin expression is related to susceptibility for infectious disease and inflammatory disorders, we sought to…”
Get full text

A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia by Hardwick, Robert J., Machado, Lee R., Zuccherato, Luciana W., Antolinos, Suzanne, Xue, Yali, Shawa, Nyambura, Gilman, Robert H., Cabrera, Lilia, Berg, Douglas E., Tyler-Smith, Chris, Kelly, Paul, Tarazona-Santos, Eduardo, Hollox, Edward J.

“…Beta‐defensins are a family of multifunctional genes with roles in defense against pathogens, reproduction, and pigmentation. In humans, six beta‐defensin…”
Get full text

Allelic recombination between distinct genomic locations generates copy number diversity in human β-defensins by Bakar, Suhaili Abu, Hollox, Edward J, Armour, John A.L

“…β-Defensins are small secreted antimicrobial and signaling peptides involved in the innate immune response of vertebrates. In humans, a cluster of at least 7…”
Get full text

Determination of beta-defensin genomic copy number in different populations: a comparison of three methods by Fode, Peder, Jespersgaard, Cathrine, Hardwick, Robert J, Bogle, Helen, Theisen, Michael, Dodoo, Daniel, Lenicek, Martin, Vitek, Libor, Vieira, Ana, Freitas, Joao, Andersen, Paal Skytt, Hollox, Edward J

“…There have been conflicting reports in the literature on association of gene copy number with disease, including CCL3L1 and HIV susceptibility, and β-defensins…”
Get full text

Genome structural variation in human evolution by Hollox, Edward J., Zuccherato, Luciana W., Tucci, Serena

“…Structural variation (SV) is a large difference (typically >100 bp) in the genomic structure of two genomes and includes both copy number variation and…”
Get full text

A comparison of assays for accurate copy number measurement of the low-affinity Fc gamma receptor genes FCGR3A and FCGR3B by Haridan, Umi Shakina, Mokhtar, Umairah, Machado, Lee R, Abdul Aziz, Abu Thalhah, Shueb, Rafidah Hanim, Zaid, Masliza, Sim, Benedict, Mustafa, Mahiran, Nik Yusof, Nik Khairudin, Lee, Christopher K C, Abu Bakar, Suhaili, AbuBakar, Sazaly, Hollox, Edward J, Boon Peng, Hoh

“…The FCGR3 locus encoding the low affinity activating receptor FcγRIII, plays a vital role in immunity triggered by cellular effector and regulatory functions…”
Get full text

Genetic variation of glycophorins and infectious disease by Hollox, Edward J., Louzada, Sandra

“…Glycophorins are transmembrane proteins of red blood cells (RBCs), heavily glycosylated on their external-facing surface. In humans, there are four glycophorin…”
Get full text

Directional and balancing selection in human beta-defensins by Hollox, Edward J, Armour, John A L

“…In primates, infection is an important force driving gene evolution, and this is reflected in the importance of infectious disease in human morbidity today…”
Get full text

Deleted in malignant brain tumor 1 genetic variation confers urinary tract infection risk in children and mice by Hains, David S., Polley, Shamik, Liang, Dong, Saxena, Vijay, Arregui, Samuel, Ketz, John, Barr‐Beare, Evan, Rawson, Ashley, Spencer, John D., Cohen, Ariel, Hansen, Pernille L., Tuttolomondo, Martina, Casella, Cinzia, Ditzel, Henrik J., Cohen, Daniel, Hollox, Edward J., Schwaderer, Andrew L.

“…The RIVUR subjects were younger than the controls with median interquartile range ages of 1.3 (0.7–2.9) versus 11.7 (8.0–14.7) years, respectively, p < 0.001…”
Get full text