Sterling C Johnson,
Asenath La Rue,
Bruce P Hermann,
Guofan Xu,
Rebecca L Koscik,
Erin M Jonaitis,
Barbara B Bendlin,
Kirk J Hogan,
Allen D Roses,
Ann M Saunders,
Michael W Lutz,
Sanjay Asthana,
Robert C Green and
Mark A Sager
Abstract
We tested the hypothesis that brain and cognitive changes suggestive of presymptomatic LOAD may be associated with this TOMM40 polymorphism.
Among healthy APOE ε3 homozygous adults (N = 117; mean age, 55 years), we compared those who were homozygous for VL/VL (n = 35) TOMM40 poly-T...
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PMID: 21784354
PDF is available here.
Abstract
We analyzed 230 pediatric field isolates (96 from 2004 and 134 from 2009). Routine hematological parameters were collected. Pfmdr1 codons 86 and 1246 and Pfcrt codon 76 were genotyped using PCR-RFLP and the prevalence of the genotypes was compared. The children's mean age did not differ between 2004...
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PMID: 21251998
PDF is available here.
Abstract
Drug disposition, metabolism and drug-drug interactions are important considerations for most drugs. Cytokines are integral to the successful resolution of many diseases. Data are emerging on a role for cytokines in regulation of the expression and activity of drug transporters and drug metabolising...
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PMID: 21299442
PDF is available here.
Abstract
We evaluated in 867 AD subjects the association of AD + P with genes which may modify the pathological process via effects on the accumulation of amyloid beta (Aβ) protein and/or hyperphosphorylated microtubule-associated protein tau (MAPT): amyloid precursor protein (APP), beta-site amyloid precur...
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PMID: 21093110
PDF is available here.
Abstract
We show that the interaction of ORs with the type 3 muscarinic acetylcholine receptor (M3-R), which is found in olfactory sensory neurons (OSNs), modulated OR responses to cognate odorants. In human embryonic kidney-293T cells, ORs and the M3-R physically interacted, and the M3-R increased the poten...
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PMID: 21224444
PDF is available here.
Abstract
We have found a 31 fold increase in the expression of the thiamine transporter, SLC19A3. Thus, further investigations into the expression changes of the thiamine transporters, SLC19A2 and SLC19A3, and the role of hypoxia inducible factor-1 alpha (HIF-1α) regulating their expression were conducted....
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PMID: 20930543
PDF is available here.
Li-Qing Chen,
Bi-Huei Hou,
Sylvie Lalonde,
Hitomi Takanaga,
Mara L Hartung,
Xiao-Qing Qu,
Woei-Jiun Guo,
Jung-Gun Kim,
William Underwood,
Bhavna Chaudhuri,
Diane Chermak,
Ginny Antony,
Frank F White,
Shauna C Somerville,
Mary Beth Mudgett and
Wolf B Frommer
Abstract
We identified a new class of sugar transporters, named SWEETs, and show that at least six out of seventeen Arabidopsis, two out of over twenty rice and two out of seven homologues in Caenorhabditis elegans, and the single copy human protein, mediate glucose transport. Arabidopsis SWEET8 is essential...
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PMID: 21107422
PDF is available here.
Abstract
We present direct biochemical evidence that Tudor-Aubergine interaction surface is composed of different Tudor domains including those that have not been previously implicated in Aubergine recognition. Furthermore, we show that specific single Tudor domains determine localization of Tudor complex to...
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PMID: 20946872
PDF is available here.
Abstract
We hypothesized that this can be improved by electro-spun, supramolecular polymer membranes which show clear benefits in ease of processability. We found that after 7 d, in comparison to conventional microporous membranes, renal tubular cells cultured on top of our fibrous supramolecular membranes...
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PMID: 20715132
PDF is available here.
Abstract
We summarize recent evidence of receptor- and transporter-mediated Aβ clearance across the BBB. Furthermore, we discuss the models used to identify and characterize Aβ transport across the BBB in regard to barrier properties and suitability of the models for the experimental investigation of trans...
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PMID: 20704558
PDF is available here.
Abstract
We show that the P. falciparum multidrug resistance gene 1 (pfmdr1) interacts with the South-East Asia-derived mutant pfcrt haplotype to modulate CQR levels. A novel chromosome 7 locus is predicted to contribute with the pfcrt and pfmdr1 loci to influence CQR levels. Chemoreversal via a wide range o...
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PMID: 20807203
PDF is available here.
Abstract
The extent to which vacuolar sugar transport activity affects molecular, cellular, and developmental processes in Arabidopsis (Arabidopsis thaliana) is unknown. Electrophysiological analysis revealed that overexpression of the tonoplast monosaccharide transporter TMT1 in a tmt1-2::tDNA mutant led to...
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PMID: 20709831
PDF is available here.
Abstract
We evaluated the possible routes of the β-CN (193-209) peptide transport, using selective inhibitors of the different routes for peptide transfer through the intestinal barrier. The results showed that the β-CN (193-209) peptide resisted the action of brush-border membrane peptidases, and that it...
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PMID: 20397193
PDF is available here.
Abstract
Malaria has been, and remains, one of the biggest global health concerns as far as infectious diseases are concerned, with yearly incidence and mortality figures running into millions. One of the major drawbacks to the control of this disease has been the emergence of drug resistant...
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PMID: 20695842
PDF is available here.
Abstract
Malaria has been, and remains, one of the biggest global health concerns as far as infectious diseases are concerned, with yearly incidence and mortality figures running into millions. One of the major drawbacks to the control of this disease has been the emergence of drug resistant strains of the c...
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PMID: 20695842
PDF is available here.
Abstract
We describe the crystal structures of the inner-membrane transporter CusA in the absence and presence of bound Cu(I) or Ag(I). These CusA structures provide new structural information about the HME subfamily of RND efflux pumps. The structures suggest that the metal-binding sites, formed by a three-...
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PMID: 20865003
PDF is available here.
Abstract
We have proposed a possibility of another important sphingolipid function associated with cold acclimation. In animal cells, it has been known that the plasma membrane contains microdomains due to the chanracteristics of sphingolipids and sterols, and the sphingolipid- and sterol-enriched microdomai...
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PMID: 20818179
PDF is available here.
Abstract
Recent studies have identified a new family of ammonia-specific transporters, Rh glycoproteins, which enable NH3-specific transport. The purpose of this review is to summarize recent evidence regarding the role of Rh glycoproteins in renal ammonia transport.
The Rh glycoproteins, RhAG/Rhag, RhBG/Rhb...
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PMID: 20539225
PDF is available here.
Abstract
This article discusses the need for transporter-mediated uptake for investigations addressing the mechanism of action of microcystins [with reference to the previous article in Cell Biology International by de Souza Votto (2007) 31:1359-1366].
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PMID: 20491673
PDF is available here.
Abstract
I enrolled 16 patients; 700 mg/m was defined as pemetrexed recommended dose. Thirteen serious adverse events were reported; the most common grade 3/4 toxicities were haematologic (10 of 13, 76.9%). Phase II enrolled 73 patients, 69 qualified for safety and 68 for efficacy analysis; 65 for pharmacoge...
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PMID: 20634689
PDF is available here.
Abstract
Low folate and high homocysteine (Hcy) concentrations are associated with pregnancy-related pathologies such as spina bifida. Polymorphisms in folate/Hcy metabolic enzymes may contribute to this potentially pathogenic biochemical phenotype.
The study comprised 26 Caucasian and 23 African-American pr...
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PMID: 20544798
PDF is available here.
Abstract
We investigated the role of this gene in quinine resistance in vitro in isolates from Kenya. We analyzed pfnhe whole-gene polymorphisms, using capillary sequencing, and pfcrt at codon 76 (pfcrt-76) and pfmdr1 at codon 86 (pfmdr1-86), using PCR-enzyme restriction methodology, in 29 isolates from Kili...
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PMID: 20516285
PDF is available here.
Abstract
We got the ureI and ctB-ureI gene from the procaryotic expression plasmid pET32a(+)-ureI and pET32a(+)-ctB-ureI by restriction enzyme BglII and XhoI, respectively.The pET32a(+)-ctB-ureI had been designed that ureI fused with Cholerae toxin B gene (ctB) at the 5'terminal of ureI to increase the immun...
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PMID: 20619103
PDF is available here.
Abstract
We have further analyzed the properties of this hCNT3 variant by determining its localization in plasma membrane lipid domains and its interaction with nucleoside-derived drugs used in anticancer and antiviral therapies. When expressed heterologously in HeLa cells, wild-type hCNT3 localized to both...
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PMID: 20421346
PDF is available here.
Abstract
Using cosmid vector, a gene library of German cockroach Blattella germanica was constructed. From this library, clones containing full-length copies of two subfamilies of R1 retroposons were selected. Retroposons R1 of German cockroach belonging to different subfamilies were shown to be different in...
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PMID: 20873200
PDF is available here.
Abstract
We examined the role of conserved residues located in the SPATE beta-barrel-forming region in passenger domain secretion. Thirty-nine fully conserved residues in Tsh were mutated by single-residue substitution, and defects in their secretion phenotypes were assessed by cell fractionation and immunoc...
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PMID: 20515934
PDF is available here.
Abstract
We show that modest S. Typhimurium replication in HMs begins at 18 h postinfection, while activated macrophages kill the bacteria. For bacterial replication to occur, the phagocytosed viable cells must be grown to a low cell density and the multiplicity of infection must be low. HMs are able to kill...
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PMID: 20515933
PDF is available here.
Abstract
We provide new insight into the structure-function relationship of the SPATEs and the functional roles of their conserved residues....
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PMID: 20479079
PDF is available here.
Abstract
Bacterial Trk and Ktr, fungal Trk and plant HKT form a family of membrane transporters permeable to K(+) and/or Na(+) and characterized by a common structure probably derived from an ancestral K(+) channel subunit. This transporter family, specific of non-animal cells, displays a lar...
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PMID: 20333436
PDF is available here.
Abstract
The ZIP (ZRT-, IRT-like Protein) protein ZupT from Escherichia coli is a transporter with a broad substrate range. Phenotypic and transport analysis showed that ZupT, in addition to Zn(II), Fe(II) and Co(II) uptake, is also involved in transport of Mn(II) and Cd(II). Competition experiments with oth...
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PMID: 20225068
PDF is available here.
Maximin Senou,
Céline Khalifa,
Matthieu Thimmesch,
François Jouret,
Olivier Devuyst,
Vincent Col,
Jean-Nicolas Audinot,
Pascale Lipnik,
Jose C Moreno,
Jacqueline Van Sande,
Jacques E Dumont,
Marie-Christine Many,
Ides M Colin and
Anne-Catherine Gérard
Abstract
Three morphological zones were identified: nearly normal follicles with iodine-rich thyroglobulin in the colloid (zone 1.a), small follicles without iodine-rich thyroglobulin in lumina (zone 1.b), and destroyed follicles (zone 2). In zones 1.a, dual oxidase (Duox) and thyroid peroxidase (TPO) were l...
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PMID: 20501687
PDF is available here.
Abstract
We introduced mutations into the ER-lumenal Hsp70, BiP/Kar2p, and found that an R217A substitution in the J domain-interacting surface of BiP compromised the physical and functional interaction with Sec63p, an Hsp40 required for ER translocation. In contrast, interaction with Jem1p, an Hsp40 require...
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PMID: 20430885
PDF is available here.
Abstract
We show that the closed state of the translocon is stabilized by hydrogen-bonding interactions of numerous highly conserved amino acids. Perturbations induced by mutation at various locations are rapidly relayed to the plug segment that seals the wild-type closed-state translocon, leading to displac...
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PMID: 20637421
PDF is available here.
Abstract
The polytopic transmembrane protein, Niemann-Pick C1-Like 1 (NPC1L1), is enriched in the apical membrane of small intestine absorptive enterocytes where it mediates extracellular sterol transport across the brush border membrane. It is essential for intestinal sterol absorption and is the molecular...
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PMID: 20307540
PDF is available here.
Abstract
Our present knowledge on the cellular physiology of P4 ATPases is mostly derived from studies in the yeast Saccharomyces cerevisiae, where P4 ATPases play a pivotal role in the biogenesis of intracellular transport vesicles, polarized protein transport and protein maturation. In contrast, the physio...
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PMID: 20450914
PDF is available here.
Abstract
We expressed seven PIN proteins specifically in Arabidopsis root hairs and analyzed their activities in terms of the degree of PIN-mediated root hair inhibition or enhancement and determined their subcellular localization. Expression of six PINs (PIN1-PIN4, PIN7, and PIN8) in root hair cells greatly...
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PMID: 20439545
PDF is available here.
Abstract
We used solvent extraction and a gel-assisted digestion method, together with isobaric tags with related and absolute quantitation (iTRAQ) reagents to label tumoral and adjacent normal tissues in a pairwise manner (n = 8). For high-throughput quantification, these digested labeled peptides were comb...
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PMID: 20546304
PDF is available here.
Abstract
Alzheimer disease (AD) is the most common cause of dementia in elderly patients. Identification of risk factors for AD would contribute to the understanding of AD pathogenesis and thus, help in the development of preventive methods. Early-onset familial AD is associated with mutation...
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PMID: 20675872
PDF is available here.
Abstract
In Aspergillus nidulans a combination of null mutations in halA, encoding a protein kinase, and sltA, encoding a zinc-finger transcription factor having no yeast homologues, results in an elevated calcium requirement ('calcium auxotrophy') without impairing net calcium uptake. sltA(-) (+/-halA(-)) m...
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PMID: 20438880
PDF is available here.
Abstract
We describe the heterologous overexpression of functional UapA as a fusion with GFP in different strains of Saccharomyces cerevisiae. The UapA-GFP construct expressed to 2.3 mg/L in a pep4Delta deletion strain lacking a key vacuolar endopeptidase and 3.8 mg/L in an npi1-1 mutant strain with defectiv...
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PMID: 20153431
PDF is available here.
Christopher K Bruce,
Matthew Smith,
Fatima Rahman,
Zhi-feng Liu,
Dominic J McMullan,
Sarah Ball,
Jane Hartley,
Marian A Kroos,
Lesley Heptinstall,
Arnold J J Reuser,
Arndt Rolfs,
Chris Hendriksz,
Deirdre A Kelly,
Timothy G Barrett,
Fiona MacDonald,
Eamonn R Maher and
Paul Gissen
Abstract
We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To validate the array, DNA samples from 51 patients with 52 different known variants (including point variants, small insertion, and deletions [indels]) in seven genes (C14ORF133, GAA, NP...
|
PMID: 20578233
PDF is available here.
Christopher K Bruce,
Matthew Smith,
Fatima Rahman,
Zhi-feng Liu,
Dominic J McMullan,
Sarah Ball,
Jane Hartley,
Marian A Kroos,
Lesley Heptinstall,
Arnold J J Reuser,
Arndt Rolfs,
Chris Hendriksz,
Deirdre A Kelly,
Timothy G Barrett,
Fiona MacDonald,
Eamonn R Maher and
Paul Gissen
Abstract
We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To validate the array, DNA samples from 51 patients with 52 different known variants (including point variants, small insertion, and deletions [indels]) in seven genes (C14ORF133, GAA, NP...
|
PMID: 20578233
PDF is available here.
Christopher K Bruce,
Matthew Smith,
Fatima Rahman,
Zhi-feng Liu,
Dominic J McMullan,
Sarah Ball,
Jane Hartley,
Marian A Kroos,
Lesley Heptinstall,
Arnold J J Reuser,
Arndt Rolfs,
Chris Hendriksz,
Deirdre A Kelly,
Timothy G Barrett,
Fiona MacDonald,
Eamonn R Maher and
Paul Gissen
Abstract
We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To validate the array, DNA samples from 51 patients with 52 different known variants (including point variants, small insertion, and deletions [indels]) in seven genes (C14ORF133, GAA, NP...
|
PMID: 20578233
PDF is available here.
Christopher K Bruce,
Matthew Smith,
Fatima Rahman,
Zhi-feng Liu,
Dominic J McMullan,
Sarah Ball,
Jane Hartley,
Marian A Kroos,
Lesley Heptinstall,
Arnold J J Reuser,
Arndt Rolfs,
Chris Hendriksz,
Deirdre A Kelly,
Timothy G Barrett,
Fiona MacDonald,
Eamonn R Maher and
Paul Gissen
Abstract
We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To validate the array, DNA samples from 51 patients with 52 different known variants (including point variants, small insertion, and deletions [indels]) in seven genes (C14ORF133, GAA, NP...
|
PMID: 20578233
PDF is available here.
Christopher K Bruce,
Matthew Smith,
Fatima Rahman,
Zhi-feng Liu,
Dominic J McMullan,
Sarah Ball,
Jane Hartley,
Marian A Kroos,
Lesley Heptinstall,
Arnold J J Reuser,
Arndt Rolfs,
Chris Hendriksz,
Deirdre A Kelly,
Timothy G Barrett,
Fiona MacDonald,
Eamonn R Maher and
Paul Gissen
Abstract
We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To validate the array, DNA samples from 51 patients with 52 different known variants (including point variants, small insertion, and deletions [indels]) in seven genes (C14ORF133, GAA, NP...
|
PMID: 20578233
PDF is available here.
Christopher K Bruce,
Matthew Smith,
Fatima Rahman,
Zhi-feng Liu,
Dominic J McMullan,
Sarah Ball,
Jane Hartley,
Marian A Kroos,
Lesley Heptinstall,
Arnold J J Reuser,
Arndt Rolfs,
Chris Hendriksz,
Deirdre A Kelly,
Timothy G Barrett,
Fiona MacDonald,
Eamonn R Maher and
Paul Gissen
Abstract
We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To validate the array, DNA samples from 51 patients with 52 different known variants (including point variants, small insertion, and deletions [indels]) in seven genes (C14ORF133, GAA, NP...
|
PMID: 20578233
PDF is available here.
Christopher K Bruce,
Matthew Smith,
Fatima Rahman,
Zhi-feng Liu,
Dominic J McMullan,
Sarah Ball,
Jane Hartley,
Marian A Kroos,
Lesley Heptinstall,
Arnold J J Reuser,
Arndt Rolfs,
Chris Hendriksz,
Deirdre A Kelly,
Timothy G Barrett,
Fiona MacDonald,
Eamonn R Maher and
Paul Gissen
Abstract
We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To validate the array, DNA samples from 51 patients with 52 different known variants (including point variants, small insertion, and deletions [indels]) in seven genes (C14ORF133, GAA, NP...
|
PMID: 20578233
PDF is available here.
Christopher K Bruce,
Matthew Smith,
Fatima Rahman,
Zhi-feng Liu,
Dominic J McMullan,
Sarah Ball,
Jane Hartley,
Marian A Kroos,
Lesley Heptinstall,
Arnold J J Reuser,
Arndt Rolfs,
Chris Hendriksz,
Deirdre A Kelly,
Timothy G Barrett,
Fiona MacDonald,
Eamonn R Maher and
Paul Gissen
Abstract
We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To validate the array, DNA samples from 51 patients with 52 different known variants (including point variants, small insertion, and deletions [indels]) in seven genes (C14ORF133, GAA, NP...
|
PMID: 20578233
PDF is available here.
Christopher K Bruce,
Matthew Smith,
Fatima Rahman,
Zhi-feng Liu,
Dominic J McMullan,
Sarah Ball,
Jane Hartley,
Marian A Kroos,
Lesley Heptinstall,
Arnold J J Reuser,
Arndt Rolfs,
Chris Hendriksz,
Deirdre A Kelly,
Timothy G Barrett,
Fiona MacDonald,
Eamonn R Maher and
Paul Gissen
Abstract
We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To validate the array, DNA samples from 51 patients with 52 different known variants (including point variants, small insertion, and deletions [indels]) in seven genes (C14ORF133, GAA, NP...
|
PMID: 20578233
PDF is available here.
Christopher K Bruce,
Matthew Smith,
Fatima Rahman,
Zhi-feng Liu,
Dominic J McMullan,
Sarah Ball,
Jane Hartley,
Marian A Kroos,
Lesley Heptinstall,
Arnold J J Reuser,
Arndt Rolfs,
Chris Hendriksz,
Deirdre A Kelly,
Timothy G Barrett,
Fiona MacDonald,
Eamonn R Maher and
Paul Gissen
Abstract
We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To validate the array, DNA samples from 51 patients with 52 different known variants (including point variants, small insertion, and deletions [indels]) in seven genes (C14ORF133, GAA, NP...
|
PMID: 20578233
PDF is available here.
Christopher K Bruce,
Matthew Smith,
Fatima Rahman,
Zhi-feng Liu,
Dominic J McMullan,
Sarah Ball,
Jane Hartley,
Marian A Kroos,
Lesley Heptinstall,
Arnold J J Reuser,
Arndt Rolfs,
Chris Hendriksz,
Deirdre A Kelly,
Timothy G Barrett,
Fiona MacDonald,
Eamonn R Maher and
Paul Gissen
Abstract
We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To validate the array, DNA samples from 51 patients with 52 different known variants (including point variants, small insertion, and deletions [indels]) in seven genes (C14ORF133, GAA, NP...
|
PMID: 20578233
PDF is available here.
Christopher K Bruce,
Matthew Smith,
Fatima Rahman,
Zhi-feng Liu,
Dominic J McMullan,
Sarah Ball,
Jane Hartley,
Marian A Kroos,
Lesley Heptinstall,
Arnold J J Reuser,
Arndt Rolfs,
Chris Hendriksz,
Deirdre A Kelly,
Timothy G Barrett,
Fiona MacDonald,
Eamonn R Maher and
Paul Gissen
Abstract
We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To validate the array, DNA samples from 51 patients with 52 different known variants (including point variants, small insertion, and deletions [indels]) in seven genes (C14ORF133, GAA, NP...
|
PMID: 20578233
PDF is available here.
Christopher K Bruce,
Matthew Smith,
Fatima Rahman,
Zhi-feng Liu,
Dominic J McMullan,
Sarah Ball,
Jane Hartley,
Marian A Kroos,
Lesley Heptinstall,
Arnold J J Reuser,
Arndt Rolfs,
Chris Hendriksz,
Deirdre A Kelly,
Timothy G Barrett,
Fiona MacDonald,
Eamonn R Maher and
Paul Gissen
Abstract
We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To validate the array, DNA samples from 51 patients with 52 different known variants (including point variants, small insertion, and deletions [indels]) in seven genes (C14ORF133, GAA, NP...
|
PMID: 20578233
PDF is available here.
Christopher K Bruce,
Matthew Smith,
Fatima Rahman,
Zhi-feng Liu,
Dominic J McMullan,
Sarah Ball,
Jane Hartley,
Marian A Kroos,
Lesley Heptinstall,
Arnold J J Reuser,
Arndt Rolfs,
Chris Hendriksz,
Deirdre A Kelly,
Timothy G Barrett,
Fiona MacDonald,
Eamonn R Maher and
Paul Gissen
Abstract
We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To validate the array, DNA samples from 51 patients with 52 different known variants (including point variants, small insertion, and deletions [indels]) in seven genes (C14ORF133, GAA, NP...
|
PMID: 20578233
PDF is available here.
Christopher K Bruce,
Matthew Smith,
Fatima Rahman,
Zhi-feng Liu,
Dominic J McMullan,
Sarah Ball,
Jane Hartley,
Marian A Kroos,
Lesley Heptinstall,
Arnold J J Reuser,
Arndt Rolfs,
Chris Hendriksz,
Deirdre A Kelly,
Timothy G Barrett,
Fiona MacDonald,
Eamonn R Maher and
Paul Gissen
Abstract
We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To validate the array, DNA samples from 51 patients with 52 different known variants (including point variants, small insertion, and deletions [indels]) in seven genes (C14ORF133, GAA, NP...
|
PMID: 20578233
PDF is available here.
Christopher K Bruce,
Matthew Smith,
Fatima Rahman,
Zhi-feng Liu,
Dominic J McMullan,
Sarah Ball,
Jane Hartley,
Marian A Kroos,
Lesley Heptinstall,
Arnold J J Reuser,
Arndt Rolfs,
Chris Hendriksz,
Deirdre A Kelly,
Timothy G Barrett,
Fiona MacDonald,
Eamonn R Maher and
Paul Gissen
Abstract
We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To validate the array, DNA samples from 51 patients with 52 different known variants (including point variants, small insertion, and deletions [indels]) in seven genes (C14ORF133, GAA, NP...
|
PMID: 20578233
PDF is available here.
Christopher K Bruce,
Matthew Smith,
Fatima Rahman,
Zhi-feng Liu,
Dominic J McMullan,
Sarah Ball,
Jane Hartley,
Marian A Kroos,
Lesley Heptinstall,
Arnold J J Reuser,
Arndt Rolfs,
Chris Hendriksz,
Deirdre A Kelly,
Timothy G Barrett,
Fiona MacDonald,
Eamonn R Maher and
Paul Gissen
Abstract
We report a resequencing array that allows the simultaneous resequencing of up to 92 genes associated with IMDs. To validate the array, DNA samples from 51 patients with 52 different known variants (including point variants, small insertion, and deletions [indels]) in seven genes (C14ORF133, GAA, NP...
|
PMID: 20578233
PDF is available here.