Delineation of 7q11.2 deletions associated with Williams-Beuren syndrome and mapping of a repetitive sequence to within and to either side of the common deletion.

abstract：:Flowering is a prerequisite for pear fruit production. Therefore, the development of flower buds and the control of flowering time are important for pear trees. However, the molecular mechanism of pear flowering is unclear. SOC1, a member of MADS-box family, is known as a flowering signal integrator in Arabidopsis. We...

journal_title：Genomics

authors： Liu Z,Wu X,Cheng M,Xie Z,Xiong C,Zhang S,Wu J,Wang P

更新日期：2020-03-01 00:00:00

abstract：:The recent identification of an intragenic differentially methylated region (DMR) within the last exon of the bovine Insulin-like growth factor 2 (IGF2) gene provides a diagnostic tool for in-depth investigation of bovine imprinting and regulatory mechanisms which are active during embryo development. Here, we used bi...

journal_title：Genomics

authors： Gebert C,Wrenzycki C,Herrmann D,Gröger D,Thiel J,Reinhardt R,Lehrach H,Hajkova P,Lucas-Hahn A,Carnwath JW,Niemann H

更新日期：2009-07-01 00:00:00

abstract：:A mouse inositol polyphosphate 1-phosphatase (Inpp1) cDNA fragment (348 bp) was amplified by means of the polymerase chain reaction using a mouse cDNA library as template with primers designed from published human and bovine cDNA sequences. We isolated a 1623-bp full-length Inpp1 cDNA from a mouse brain cDNA library u...

journal_title：Genomics

authors： Okabe I,Nussbaum RL

更新日期：1995-11-20 00:00:00

abstract：:The hemopoietic growth factors interleukin-3 (IL-3, multi-CSF) and granulocyte-macrophage colony-stimulating factor (GM-CSF) belong to a family of secreted glycoproteins that stimulate the proliferation and differentiation of hemopoietic progenitor cells. IL-3 and GM-CSF have overlapping biological activities and show...

journal_title：Genomics

authors： Lee JS,Young IG

更新日期：1989-08-01 00:00:00

abstract：:While scanning for single-nucleotide polymorphisms (SNPs) in the human Xq25-q28 region of CEPH families, we found six long "deserts" of low SNP incidence representing 28% of the investigated genome. One was 1.66 Mb in length. To determine whether these SNP deserts were due to reduced input of mutations or to recent co...

journal_title：Genomics

authors： Miller RD,Taillon-Miller P,Kwok PY

更新日期：2001-01-01 00:00:00

abstract：:A simple and rapid strategy for restriction mapping based on sequence-specific triple-helix affinity capture (TAC) was developed. The strategy was applied to the analysis of cosmid clones by the construction of a new cosmid vector, ScosTriplex-II, containing two different triple-helix-forming sequences flanking the cl...

journal_title：Genomics

authors： Ji H,Francisco T,Smith LM,Guilfoyle RA

更新日期：1996-01-15 00:00:00

abstract：:Tandem repetitive sequences are DNA motifs common in the genomes of eukaryotic species and are often embedded in heterochromatic regions. In most eukaryotes, ribosomal genes, as well as centromeres and telomeres or subtelomeres, are associated with abundant tandem arrays of repetitive sequences and typically represent...

journal_title：Genomics

authors： Zhang D,Yang Q,Ding Y,Cao X,Xue Y,Cheng Z

更新日期：2008-08-01 00:00:00

abstract：:To understand the pattern of gene expression in mouse myeloid progenitor cells, we carried out a genome-wide analysis of gene expression in mouse bone marrow Gr-1(+) cells using SAGE and GLGI techniques. We identified 22,033 unique SAGE tags with quantitative information from 73,869 collected SAGE tags. Among these un...

journal_title：Genomics

authors： Chen J,Rowley DA,Clark T,Lee S,Zhou G,Beck C,Rowley JD,Wang SM

更新日期：2001-10-01 00:00:00

abstract：:We have analyzed the organization of the chicken alpha-globin gene domain using DNA miniarrays and have found two novel chromatin loop attachment regions. We have found a 40-kb loop domain that includes all the alpha-globin genes in cells of erythroid origin. One of the domain borders colocalizes almost exactly with a...

journal_title：Genomics

authors： Ioudinkova E,Petrov A,Razin SV,Vassetzky YS

更新日期：2005-01-01 00:00:00

abstract：:This work describes a novel method, multiplex solid-phase fluorescent minisequencing, for the simultaneous detection of several point mutations and/or small deletions and insertions. The method is applied to the analysis of mitochondrial DNA polymorphisms for the purposes of individual identification. A database of 15...

journal_title：Genomics

authors： Tully G,Sullivan KM,Nixon P,Stones RE,Gill P

更新日期：1996-05-15 00:00:00

abstract：:Proteins with seven transmembrane segments (7TM) define a superfamily of receptors (7TM receptors) sharing the same topology: an extracellular N-terminus, three extramembranous loops on either side of the plasma membrane, and a cytoplasmic C-terminal tail. Upon ligand binding, cytoplasmic portions of the activated rec...

journal_title：Genomics

authors： Baud V,Chissoe SL,Viegas-Péquignot E,Diriong S,N'Guyen VC,Roe BA,Lipinski M

更新日期：1995-03-20 00:00:00

abstract：:A method was recently developed for the specific amplification of human DNA sequences from interspecific somatic cell hybrids by the polymerase chain reaction (PCR) using primers directed to Alu, a short interspersed repeat element (SINE). We now show human-specific amplification using a primer to the 3' end of the hu...

journal_title：Genomics

authors： Ledbetter SA,Nelson DL,Warren ST,Ledbetter DH

更新日期：1990-03-01 00:00:00

abstract：:Psoriasis is a chronic inflammatory disease of the skin with both genetic and environmental risk factors. Here we describe the creation of a single-nucleotide polymorphism (SNP) map spanning 900-1200 kb of chromosome 3q21, which had been previously recognized as containing a psoriasis susceptibility locus, PSORS5. We ...

journal_title：Genomics

authors： Hewett D,Samuelsson L,Polding J,Enlund F,Smart D,Cantone K,See CG,Chadha S,Inerot A,Enerback C,Montgomery D,Christodolou C,Robinson P,Matthews P,Plumpton M,Wahlstrom J,Swanbeck G,Martinsson T,Roses A,Riley J,Purvi

更新日期：2002-03-01 00:00:00

abstract：:Heterotrimeric G proteins, composed of alpha, beta, and gamma subunits, transduce signals from transmembrane receptors to a wide range of intracellular effectors. The G protein gamma subunits, which play an indispensible role in this communication, constitute a large and diverse multigene family. Using an interspecifi...

journal_title：Genomics

authors： Downes GB,Gilbert DJ,Copeland NG,Gautam N,Jenkins NA

更新日期：1999-04-01 00:00:00

abstract：:The cDNA for the PSST subunit of human mitochondrial nicotinamide adenine dinucleotide (NADH): ubiquinone oxidoreductase [complex I; NADH dehydrogenase (ubiquinone), Fe-S (20 kDa); EC 1.6.5.3] was generated by polymerase chain reaction (PCR) amplification of human cDNA. The sequence of the mature protein deduced from ...

journal_title：Genomics

authors： Hyslop SJ,Duncan AM,Pitkänen S,Robinson BH

更新日期：1996-11-01 00:00:00

abstract：:Haemophilia is an X-linked genetic disorder in which A and B types are the most common that occur due to absence or lack of protein factors VIII and IX, respectively. Severity of the disease depends on mutation. Available Machine Learning (ML) methods that predict the mutational severity by using traditional encoding ...

journal_title：Genomics

authors： Singh VK,Maurya NS,Mani A,Yadav RS

更新日期：2020-11-01 00:00:00

abstract：:The GM2 activator locus (GM2A) had previously been considered as a candidate gene for some forms of spinal muscular atrophy (SMA; mapped to 5q11.2-q13.3). It was eliminated as a possible candidate because PCR-based mapping failed to localize the gene to chromosome 5, as was previously reported using an ELISA-based met...

journal_title：Genomics

authors： Heng HH,Xie B,Shi XM,Tsui LC,Mahuran DJ

更新日期：1993-11-01 00:00:00

abstract：:The intron-containing genes encoding rat and human ribosomal protein L19 (RPL19) have been cloned. The DNA sequences of the entire rat RPL19 gene and the 5' end of the human RPL19 gene have been determined. Sequence comparison of corresponding regions of the two genes reveals a striking interspecies homology in the 5'...

journal_title：Genomics

authors： Davies B,Fried M

更新日期：1995-01-20 00:00:00

abstract：:We have used probes from the human genes PI, PIL, and AACT (alpha 1-antitrypsin, alpha 1-antitrypsin-related sequence, and alpha 1-antichymotrypsin) to make a pulsed-field map of the surrounding region of 14q31-32. We have discovered that the PI-PIL gene cluster is only 220 kb away from the AACT gene and that it is or...

journal_title：Genomics

authors： Sefton L,Kelsey G,Kearney P,Povey S,Wolfe J

更新日期：1990-07-01 00:00:00

abstract：:Neurofibromatosis 1 maps to chromosome band 17q11.2, and the NF1 locus has been partially characterized. Even though the full-length NF1 cDNA has been sequenced, the complete genomic structure of the NF1 gene has not been elucidated. The 5' end of NF1 is embedded in a CpG island containing a NotI restriction site, and...

journal_title：Genomics

authors： Li Y,O'Connell P,Breidenbach HH,Cawthon R,Stevens J,Xu G,Neil S,Robertson M,White R,Viskochil D

更新日期：1995-01-01 00:00:00

abstract：:Proteins of the DUF1313 family contain a highly conserved domain and are only found in plants; they play important roles in most plant functions. In this study, 269 DUF1313 genes from 81 photoautotrophic species were identified; they were classified into three major types based on the amino acid substitutions in the c...

journal_title：Genomics

authors： Li J,Hu E,Chen X,Xu J,Lan H,Li C,Hu Y,Lu Y

更新日期：2016-05-01 00:00:00

abstract：:Sulfonation is an important pathway in the biotransformation of many drugs, xenobiotics, neurotransmitters, and steroid hormones. The thermostable (TS) form of phenol sulfotransferase (PST) preferentially catalyzes the sulfonation of "simple" planar phenols, and levels of activity of TS PST in human tissues are contro...

journal_title：Genomics

authors： Her C,Raftogianis R,Weinshilboum RM

更新日期：1996-05-01 00:00:00

abstract：:Genomic mismatch scanning (GMS) is a high-throughput, high-resolution identity by descent mapping technique that enriches for genomic DNA fragments that are shared between related individuals. In GMS, DNA heteroduplexes are formed from restriction-digested genomic DNA fragments from two relatives. Mismatch-free DNA he...

journal_title：Genomics

authors： Cheung VG,Nelson SF

更新日期：1998-01-01 00:00:00

abstract：:The closely linked proline-rich protein (Prp) genes, coding for abundant salivary proteins, are located on distal mouse chromosome 6. They are part of a conserved linkage group that is represented on human chromosome 12p. Two other markers, Ea-10 and Es-12, that were previously unassigned to a chromosome are closely l...

journal_title：Genomics

authors： Azen EA,Davisson MT,Cherry M,Taylor BA

更新日期：1989-10-01 00:00:00

abstract：:The myotonic dystrophy (DM) region has been recently shown to be bracketed by two key recombinant events. One recombinant occurs in a Dutch DM family, which maps the DM locus distal to the ERCC1 gene and D19S115 (pE0.8). The other recombinant event is in a French Canadian DM family, which maps DM proximal to D19S51 (p...

journal_title：Genomics

authors： Shutler G,Korneluk RG,Tsilfidis C,Mahadevan M,Bailly J,Smeets H,Jansen G,Wieringa B,Lohman F,Aslanidis C

更新日期：1992-07-01 00:00:00

abstract：:We present evidence of a potentially serious source of error intrinsic to all spotted cDNA microarrays that use IMAGE clones of expressed sequence tags (ESTs). We found that a high proportion of these EST sequences contain 5'-end poly(dT) sequences that are remnants from the oligo(dT)-primed reverse transcription of p...

journal_title：Genomics

authors： Handley D,Serban N,Peters D,O'Doherty R,Field M,Wasserman L,Spirtes P,Scheines R,Glymour C

更新日期：2004-06-01 00:00:00

abstract：:Expression of p107, a protein with homology to the retinoblastoma tumor suppressor (pRB), was monitored during murine development. Northern blot tissue surveys identified two transcripts of 4.9 and 2.4 kb that hybridized to a p107 cDNA clone. Expression of both transcripts was detected in fetal tissues, with particula...

journal_title：Genomics

authors： Kim KK,Soonpaa MH,Wang H,Field LJ

更新日期：1995-08-10 00:00:00

abstract：:Using library to library cross-screening we have identified a number of genomic clones that harbor X-linked sequences expressed in the human choroid/retina. We describe the characterization of one of these, designated XEH.8 (DXS542), which is localized to Xp11.3-q12. Isolation, partial sequencing, and Northern analysi...

journal_title：Genomics

authors： Wong P,MacDonald IM,Sood R,Smith C,Pilon R,Tenniswood M

更新日期：1993-03-01 00:00:00

abstract：:The beclin 1 (BECN1) gene encodes a 60-kDa coiled-coil protein that interacts with the prototypic apoptosis inhibitor Bcl-2. Previous studies indicate that beclin 1 maps to a region approximately 150 kb centromeric to BRCA1 on chromosome 17q21 that is commonly deleted in breast, ovarian, and prostate cancer. The compl...

journal_title：Genomics

authors： Aita VM,Liang XH,Murty VV,Pincus DL,Yu W,Cayanis E,Kalachikov S,Gilliam TC,Levine B

更新日期：1999-07-01 00:00:00

abstract：:Current microarray technology allows researchers to genotype a large number of SNPs with relatively small amounts of DNA. Nevertheless, researchers and clinicians still frequently face the problem of acquiring enough high-quality DNA for analysis. Whole-genome amplification (WGA) methods offer a solution for this prob...

journal_title：Genomics

authors： Xing J,Watkins WS,Zhang Y,Witherspoon DJ,Jorde LB

更新日期：2008-12-01 00:00:00