The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome.

abstract：:We have characterized 117 cDNAs isolated by direct cDNA selection using pools of human chromosome 12p cosmids. Sequencing revealed that 41 clones did overlap with other cDNAs. Of the remaining 76 cDNA sequences, 11 matched previously identified human chromosome 12p genes and 3 matched previously determined cDNA sequen...

journal_title：Genomics

authors： Baens M,Aerssens J,van Zand K,Van den Berghe H,Marynen P

更新日期：1995-09-01 00:00:00

abstract：:Quantitative reverse transcription polymerase chain reaction (qRT-PCR) is currently viewed as the most precise technique to quantify levels of messenger RNA. Relative quantification compares the expression of a target gene under two or more experimental conditions normalized to the measured expression of a control gen...

journal_title：Genomics

authors： Steibel JP,Poletto R,Coussens PM,Rosa GJ

更新日期：2009-08-01 00:00:00

abstract：:Williams syndrome (WS) is a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Hemizygosity of the elastin (ELN) gene can account for the vascular and connective tissue abnormalities observed in WS patients, but the genes that contribute to features such as infantile hypercalcemi...

journal_title：Genomics

authors： Osborne LR,Martindale D,Scherer SW,Shi XM,Huizenga J,Heng HH,Costa T,Pober B,Lew L,Brinkman J,Rommens J,Koop B,Tsui LC

更新日期：1996-09-01 00:00:00

abstract：:Traditionally, somatic mutations are detected by examining DNA sequence. The maturity of sequencing technology has allowed researchers to screen for somatic mutations in the whole genome. Increasingly, researchers have become interested in identifying somatic mutations through RNAseq data. With this motivation, we eva...

journal_title：Genomics

authors： Sheng Q,Zhao S,Li CI,Shyr Y,Guo Y

更新日期：2016-05-01 00:00:00

abstract：OBJECTIVE:Cytokines strongly induce expression of the inducible nitric oxide synthase (iNOS) in rodent but not in human endothelial cells. We recently identified NOS2 as a potential target of the histone methyltransferase enhancer of zeste homolog 2 which mediates trimethylation of histone 3 at lysine 27 (H3K27me3). M...

journal_title：Genomics

authors： Dreger H,Ludwig A,Weller A,Baumann G,Stangl V,Stangl K

更新日期：2016-04-01 00:00:00

abstract：:A gene for autosomal recessive juvenile parkinsonism (ARJP; HGMW-approved symbol PARK2; MIM 600116) has recently been mapped to a 17-cM interval on chromosome 6q25.2-q27. We here report an inbred family with ARJP showing a perfect cosegregation with null allele for D6S305, which is a marker within the ARJP locus. We a...

journal_title：Genomics

authors： Matsumine H,Yamamura Y,Hattori N,Kobayashi T,Kitada T,Yoritaka A,Mizuno Y

更新日期：1998-04-01 00:00:00

abstract：:Childhood-onset asthma is frequently found in association with atopy. Although asthmatic children may develop IgE antibodies against variety of allergens, asthma is associated primarily with allergy to house-dust mites, molds, or other allergens. In this study, we conducted a genome-wide linkage search in 47 Japanese ...

journal_title：Genomics

authors： Yokouchi Y,Nukaga Y,Shibasaki M,Noguchi E,Kimura K,Ito S,Nishihara M,Yamakawa-Kobayashi K,Takeda K,Imoto N,Ichikawa K,Matsui A,Hamaguchi H,Arinami T

更新日期：2000-06-01 00:00:00

abstract：:Interspecific somatic cell hybrids containing single human chromosomes are valuable reagents for localization of cloned genes and DNA fragments to specific chromosomes, for the development of chromosome-specific libraries, and for generation of hybrid cell lines containing subchromosomal regions. A CHO somatic cell hy...

journal_title：Genomics

authors： Mares A Jr,Ledbetter SA,Ledbetter DH,Roberts R,Hejtmancik JF

更新日期：1991-09-01 00:00:00

abstract：:The identification of noncoding functional elements within vertebrate genomes, such as those that regulate gene expression, is a major challenge. Comparisons of orthologous sequences from multiple species are effective at detecting highly conserved regions and can reveal potential regulatory sequences. The GDF6 gene c...

journal_title：Genomics

authors： Portnoy ME,McDermott KJ,Antonellis A,Margulies EH,Prasad AB,NISC Comparative Sequencing Program.,Kingsley DM,Green ED,Mortlock DP

更新日期：2005-09-01 00:00:00

abstract：:Mapping of 33 anonymous DNA probes and 12 genes to the long arm of chromosome 16 was achieved by the use of 14 mouse/human hybrid cell lines and the fragile site FRA16B. Two of the hybrid cell lines contained overlapping interstitial deletions in bands q21 and q22.1. The localization of the 12 genes has been refined. ...

journal_title：Genomics

authors： Chen LZ,Harris PC,Apostolou S,Baker E,Holman K,Lane SA,Nancarrow JK,Whitmore SA,Stallings RL,Hildebrand CE

更新日期：1991-06-01 00:00:00

abstract：:Authentic cDNAs encoding the activator protein for acid beta-glucosidase (EC3.2.1.45), co-beta-glucosidase, were cloned from the pCD and lambda gt11 human cDNA libraries. Initial screening with oligonucleotide mixtures encoding amino acid sequences of co-beta-glucosidase identified partial cDNAs which were used to obt...

journal_title：Genomics

authors： Rorman EG,Grabowski GA

更新日期：1989-10-01 00:00:00

abstract：:Polymorphic loci that lie at the two extremities of the Duchenne/Becker muscular dystrophy (DMD/BMD) gene have been used to estimate intragenic recombination rates. Multipoint linkage analysis of the CEPH panel of families suggests a total intragenic recombination frequency of nearly 0.12 (confidence intervals 0.041-0...

journal_title：Genomics

authors： Abbs S,Roberts RG,Mathew CG,Bentley DR,Bobrow M

更新日期：1990-08-01 00:00:00

abstract：:Ten microsatellite DNA polymorphisms located on human chromosome 10 were regionally mapped using subchromosomal somatic cell hybrids and linkage analysis. The resulting order of the markers from pter-qter was [D10S89, D10S111], D10S107, D10S109, [D10S91, D10S110, D10S108, D10S88, D10S168], and D10S169. Order of the ma...

journal_title：Genomics

authors： Decker RA,Moore J,Ponder B,Weber JL

更新日期：1992-03-01 00:00:00

abstract：:Human platelet/endothelial cell adhesion molecule-1 (PECAM1), an important member of the immunoglobulin gene superfamily, is widely distributed on cells of the vascular system and mediates cellular interactions through both homophilic and heterophilic adhesive mechanisms. The function of PECAM1 in vitro has begun to b...

journal_title：Genomics

authors： Xie Y,Muller WA

更新日期：1996-10-15 00:00:00

abstract：:As the exponential growth of DNA sequence information in databases continues, the task of converting this deposited information into knowledge becomes more dependent on integrative sequence analysis and visualization tools. PANORAMA is an Internet-accessible software package that performs a variety of informatics anal...

journal_title：Genomics

authors： Pertsemlidis A,Pande A,Miller B,Schilling P,Wei MH,Lerman MI,Minna JD,Garner HR,Mittelman D

更新日期：2000-12-15 00:00:00

abstract：:To investigate the relationship between meiotic crossover hot spots and block-like linkage disequilibrium (LD), we have extended our high-resolution studies of the human MHC class II region to a 90-kb segment upstream of the HLA-DOA gene. LD blocks in this region are not as well defined as in the neighboring 210-kb DN...

journal_title：Genomics

authors： Kauppi L,Stumpf MP,Jeffreys AJ

更新日期：2005-07-01 00:00:00

abstract：:Understanding ribosomal protein gene regulation provides a good avenue for understanding gene regulatory networks. Even after 5 decades of research on ribosomal protein gene regulation, little is known about how higher eukaryotic ribosomal protein genes are coordinately regulated at the transcriptional level. However,...

journal_title：Genomics

authors： Hu H,Li X

更新日期：2007-10-01 00:00:00

abstract：:alpha-Satellite subfamilies from chromosomes 21 and 13 are almost identical in sequence and cannot be distinguished from each other by hybridization techniques. A general method based on membrane-bound PCR is described here, allowing the discrimination of alpha-satellite DNA sequences from each of these two chromosome...

journal_title：Genomics

authors： Charlieu JP,Murgue B,Laurent AM,Marçais B,Bellis M,Roizès G

更新日期：1992-10-01 00:00:00

abstract：:Neogenin was first identified in the chick embryo, and like a number of cell surface proteins of the immunoglobulin (Ig) superfamily, including N-CAM and L1 (generally called cell adhesion molecules or CAMs), it is expressed on growing nerve cells in the developing nervous system of vertebrate embryos. Neogenin is als...

journal_title：Genomics

authors： Vielmetter J,Chen XN,Miskevich F,Lane RP,Yamakawa K,Korenberg JR,Dreyer WJ

更新日期：1997-05-01 00:00:00

abstract：:Receiver operating characteristic (ROC) has been widely used to evaluate statistical methods, but a fatal problem is that ROC cannot evaluate estimation of the false discovery rate (FDR) of a statistical method and hence the area under of curve as a criterion cannot tell us if a statistical method is conservative. To ...

journal_title：Genomics

authors： Tan YD

更新日期：2011-11-01 00:00:00

abstract：:Mice that are heterozygous for the ragged (Ra) mutation, which is semidominant, have ragged coats caused by an absence of certain hair types. Ra/Ra homozygous mice usually die soon after birth, are naked, and have edema. Mice that are homozygous for the recessive mutation wasted (wst) appear normal until soon after we...

journal_title：Genomics

authors： Abbott C,Malas S,Pilz A,Pate L,Ali R,Peters J

更新日期：1994-03-01 00:00:00

abstract：:We report a comprehensive comparative analysis of human and mouse olfactory receptor (OR) genes encoding OR37 subtypes to determine the repertoire, chromosomal organization, and relatedness of these genes. Two OR37 clusters were found in both mouse (chromosome 4) and human (chromosome 9); with five genes in cluster I ...

journal_title：Genomics

authors： Hoppe R,Breer H,Strotmann J

更新日期：2003-09-01 00:00:00

abstract：:The gene for familial chondrocalcinosis (MIM 118600; gene symbol CCAL2) has been localized to a 0.8-cM interval on the short arm of chromosome 5, between the polymorphic microsatellite markers D5S416 and D5S2114. We have undertaken the physical and transcript mapping of this interval, as well as regions telomeric to t...

journal_title：Genomics

authors： Rojas K,Serrano de la Peña L,Gallardo T,Simmons A,Nyce K,McGrath R,Considine E,Vasko AJ,Peterson E,Grady D,Cox R,Andrew LJ,Lovett M,Overhauser J,Williams CJ

更新日期：1999-12-01 00:00:00

abstract：:Southern blot analysis of genomic DNA from different strains of rat indicated that there were multiple copies of the gene encoding the second enzyme of the heme biosynthetic pathway, delta-aminolevulinate dehydratase (ALA-D). Two types of genomic clones were isolated from a Sprague-Dawley rat library. One appears to b...

journal_title：Genomics

authors： Bishop TR,Frelin LP,Boyer SH

更新日期：1990-08-01 00:00:00

abstract：:The APETALA2/ethylene-responsive factor (AP2/ERF) has important roles in regulating developmental processes and hormone signaling transduction in plants. Pineapple demonstrates a special sensitivity to ethylene, and AP2/ERFs may contribute to this distinct sensitivity of pineapples to ethylene. However, little informa...

journal_title：Genomics

authors： Zhang H,Pan X,Liu S,Lin W,Li Y,Zhang X

更新日期：2021-01-20 00:00:00

abstract：:For diseases in which thrombosis plays a pivotal role, such as virus-induced fulminant hepatitis, fetal loss syndrome, and xenograft rejection, the major procoagulant has remained elusive. Here we describe the isolation and functional expression of a distinct human prothrombinase, termed FGL2. The murine fgl2 gene pro...

journal_title：Genomics

authors： Yuwaraj S,Ding J,Liu M,Marsden PA,Levy GA

更新日期：2001-02-01 00:00:00

abstract：:Preaxial polydactyly is a congenital hand malformation that includes duplicated thumbs, various forms of triphalangeal thumbs, and duplications of the index finger. A locus for preaxial polydactyly has been mapped to a region of 1.9 cM on chromosome 7q36 between polymorphic markers D7S550 and D7S2423. We constructed a...

journal_title：Genomics

authors： Heus HC,Hing A,van Baren MJ,Joosse M,Breedveld GJ,Wang JC,Burgess A,Donnis-Keller H,Berglund C,Zguricas J,Scherer SW,Rommens JM,Oostra BA,Heutink P

更新日期：1999-05-01 00:00:00

abstract：:The inherited cancer syndrome multiple endocrine neoplasia type 2A (MEN2A) has recently been mapped to chromosome 10. We have typed 29 families with this disorder with DNA markers from the pericentromeric region of chromosome 10. Two markers, RBP3 and MCK2, were tightly linked to the MEN2A gene at recombination fracti...

journal_title：Genomics

authors： Nakamura Y,Mathew CG,Sobol H,Easton DF,Telenius H,Bragg T,Chin K,Clark J,Jones C,Lenoir GM

更新日期：1989-08-01 00:00:00

abstract：:We have determined the chromosomal localization of four human homeobox-containing genes, EMX1, EMX2, OTX1, and OTX2, related to Drosophila genes expressed in the developing head of the fly. Murine homologs of these genes are expressed in specific nested domains in the developing rostral brain of midgestation embryos. ...

journal_title：Genomics

authors： Kastury K,Druck T,Huebner K,Barletta C,Acampora D,Simeone A,Faiella A,Boncinelli E

更新日期：1994-07-01 00:00:00

abstract：:The NFAR gene (nuclear factor associated with dsRNA) encodes a putative transcription-associated factor that we have shown is a substrate for the interferon-inducible, dsRNA-dependent protein kinase, PKR. However, our protein expression analysis has revealed that NFAR exists as two major protein species of 90 kDa (NFA...

journal_title：Genomics

authors： Saunders LR,Jurecic V,Barber GN

更新日期：2001-01-15 00:00:00