Tight linkage between type III Gaucher's disease (Norrbottnian type) and a MspI polymorphism within the gene for human glucocerebrosidase.

abstract：:We carried out a cross species cattle-sheep array comparative genome hybridization experiment to identify copy number variations (CNVs) in the sheep genome analysing ewes of Italian dairy or dual-purpose breeds (Bagnolese, Comisana, Laticauda, Massese, Sarda, and Valle del Belice) using a tiling oligonucleotide array ...

journal_title：Genomics

authors： Fontanesi L,Beretti F,Martelli PL,Colombo M,Dall'olio S,Occidente M,Portolano B,Casadio R,Matassino D,Russo V

更新日期：2011-03-01 00:00:00

abstract：:The regional assignments of 30 expressed sequence tags (ESTs) on human chromosome 7 were determined by studying the segregation of their PCR-amplified products in a panel of mouse somatic cell hybrids. ESTs are important molecular landmarks for physical mapping and can be considered as tags to candidate genes for gene...

journal_title：Genomics

authors： Patel RJ,Keen TJ,Grzeschik KH,Nierman WC,Hayes P,Bhattacharya SS,Inglehearn CF

更新日期：1995-11-01 00:00:00

abstract：:The desmocollins and desmogleins are members of the cadherin family of adhesive proteins present in the desmosome type of cell-cell junction. All of the known desmoglein and desmocollin isoforms, which have differing tissue and developmental distributions, are coded by very closely linked genes at 18q12.1. We have pre...

journal_title：Genomics

authors： Cowley CM,Simrak D,Marsden MD,King IA,Arnemann J,Buxton RS

更新日期：1997-06-01 00:00:00

abstract：:We discuss the statistical significance of local similarities found between DNA sequences, and illustrate the procedure with reference to the Queen and Korn algorithm. If the longest similarity found for two sequences has length L, this length is said to be significant at the 5% level if there is a probability of no m...

journal_title：Genomics

authors： Brooks LD,Weir BS,Schaffer HE

更新日期：1988-10-01 00:00:00

abstract：:We have determined the cDNA and genomic structure of a gene (-14 gene) that lies adjacent to the human alpha-globin cluster. Although it is expressed in a wide range of cell lines and tissues, a previously described erythroid-specific regulatory element that controls expression of the alpha-globin genes lies within in...

journal_title：Genomics

authors： Vyas P,Vickers MA,Picketts DJ,Higgs DR

更新日期：1995-10-10 00:00:00

abstract：:SCG10 is a neuronal growth-associated protein that shares an amino acid sequence similarity with an 18- to 19-kDa phosphoprotein named stathmin (also called p19, p18, Op18, pp17, prosolin, pp20, 19K, and leukemia-associated phosphoprotein, Lap18), which is more broadly expressed in a variety of cell types of the neura...

journal_title：Genomics

authors： Okazaki T,Yoshida BN,Avraham KB,Wang H,Wuenschell CW,Jenkins NA,Copeland NG,Anderson DJ,Mori N

更新日期：1993-11-01 00:00:00

abstract：:To better understand the molecular basis of corpus luteum (CL) development and function RNA-Seq was utilized to identify differentially expressed genes (DEGs) in porcine CL during different physiological stages of the estrous cycle viz. early (EL), mid (ML), late (LL) and regressed (R) luteal. Stage wise comparisons o...

journal_title：Genomics

authors： Bharati J,Mohan NH,Kumar S,Gogoi J,Kumar S,Jose B,Punetha M,Borah S,Kumar A,Sarkar M

更新日期：2021-01-01 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：:We have isolated a human cDNA encoding a protein of 334 amino acids that shows 96% identity in amino acid sequence to murine cytosolic malate dehydrogenase. Heart and skeletal muscle expressed this gene most highly among the adult human tissues examined by Northern blot analysis. By fluorescence in situ hybridization,...

journal_title：Genomics

authors： Tanaka T,Inazawa J,Nakamura Y

更新日期：1996-02-15 00:00:00

abstract：:Histamine N-methyltransferase (HNMT), a cytosolic histamine-metabolizing enzyme, is the only known product of the 50-kb human HNMT. Here, a detailed investigation of HNMT products revealed the existence of a new brain mRNA product of HNMT. This species, named HNMT-Short (HNMT-S), encodes a 126-amino-acid protein. Nort...

journal_title：Genomics

authors： Barnes WG,Grinde E,Crawford DR,Herrick-Davis K,Hough LB

更新日期：2004-01-01 00:00:00

abstract：:The genetic linkage of Chediak-Higashi syndrome and its murine analog, beige (bg), to the T-cell receptor (TCR-gamma) gamma chain gene is further defined. Previous studies using recombinant inbred strains of mice demonstrated that the murine bg gene is genetically linked to a murine TCR-gamma gene. We report that in t...

journal_title：Genomics

authors： Holcombe RF,Strauss W,Owen FL,Boxer LA,Warren RW,Conley ME,Ferrara J,Leavitt RY,Fauci AS,Taylor BA

更新日期：1987-11-01 00:00:00

abstract：:PKD1, the gene for the chromosome 16-linked form of autosomal dominant polycystic kidney disease, has previously been genetically mapped to an interval bounded by the polymorphic loci Fr3-42/EKMDA2 distally and O327hb/O90a proximally. More recently, 26.6PROX was identified as the closest proximal flanking locus. We se...

journal_title：Genomics

authors： Somlo S,Wirth B,Germino GG,Weinstat-Saslow D,Gillespie GA,Himmelbauer H,Steevens L,Coucke P,Willems P,Bachner L

更新日期：1992-05-01 00:00:00

abstract：:Expressed sequence tags (ESTs) have been obtained from several hundred brain cDNAs as an initial effort to characterize expressed brain genes. These ESTs will become tools for human genome mapping and they will also provide candidate causative genes for inherited disorders affecting the central nervous system. We have...

journal_title：Genomics

authors： Polymeropoulos MH,Xiao H,Glodek A,Gorski M,Adams MD,Moreno RF,Fitzgerald MG,Venter JC,Merril CR

更新日期：1992-03-01 00:00:00

abstract：:Olfactory receptors constitute the largest family among G protein-coupled receptors, with up to 1000 members expected. We have previously shown that genes belonging to this family were expressed in the male germ line from both dog and human. We have subsequently demonstrated the presence of one of the corresponding ol...

journal_title：Genomics

authors： Vanderhaeghen P,Schurmans S,Vassart G,Parmentier M

更新日期：1997-02-01 00:00:00

abstract：:A human tryptophan oxygenase clone was isolated by screening a liver cDNA library with a rat tryptophan oxygenase cDNA clone. Analysis showed extensive homology between the rat and the human DNA and protein sequences. The combined use of cell hybrids and in situ hydridization indicated that human tryptophan oxygenase ...

journal_title：Genomics

authors： Comings DE,Muhleman D,Dietz GW Jr,Donlon T

更新日期：1991-02-01 00:00:00

abstract：:Treatment for lower-grade gliomas (LGG) has been challenging. Though emerging approaches such as immunotherapy is promising, it is still faced with immune tolerance, an obstacle that may be overcome by targeting autophagy-related (ATG) genes. After identifying three differentially expressed ATG genes (RIPK2, MUL1 and ...

journal_title：Genomics

authors： Lin JZ,Lin N

更新日期：2020-10-15 00:00:00

abstract：:Using cDNA probes obtained from library screening and anchored polymerase chain reaction, we have isolated and characterized three overlapping mouse genomic clones that contain the mouse lipocortin I (Lipo I) structural gene. Restriction enzyme mapping, Southern blotting, and DNA sequencing were carried out on the clo...

journal_title：Genomics

authors： Horlick KR,Cheng IC,Wong WT,Wakeland EK,Nick HS

更新日期：1991-06-01 00:00:00

abstract：:Identifying physiological and transcriptomic changes can provide insights into the effects of drier air humidity stress on plants. In this study, we selected 6-month-old seedlings of Pterocarya stenoptera as study materials and used physiological index detection and transcriptome sequencing to investigate the adaptati...

journal_title：Genomics

authors： Ye XF,Li Y,Liu HL,He YX

更新日期：2020-11-01 00:00:00

abstract：:Using a slot-blot method for the dosage of single-copy sequences, the copy numbers of 30 chromosome 21 markers were assessed in the blood DNA of 11 patients with partial trisomy or monosomy 21 and in the DNA of a patient-derived human-hamster hybrid cell line carrying a microduplication of chromosome 21. The physical ...

journal_title：Genomics

authors： Delabar JM,Chettouh Z,Rahmani Z,Theophile D,Blouin JL,Bono R,Kraus J,Barton J,Patterson D,Sinet PM

更新日期：1992-07-01 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 human ubiquitin-homology domain protein PIC1 interacts with the acute promyelocytic leukemia protein PML, and both proteins form part of the large, nuclear, multiprotein complexes known as PML nuclear bodies. The normal punctate immunohistochemical staining pattern of these complexes is disrupted by viral infectio...

journal_title：Genomics

authors： Howe K,Williamson J,Boddy N,Sheer D,Freemont P,Solomon E

更新日期：1998-01-01 00:00:00

abstract：:Down syndrome is a major cause of mental retardation and congenital heart defects and is due to the presence of three copies of human chromosome 21 in the affected individual. We have identified a gene, DSCR1 (HGMW-approved symbol), from the region 21q22.1-q22.2, which is highly expressed in human fetal brain and adul...

journal_title：Genomics

authors： Fuentes JJ,Pritchard MA,Estivill X

更新日期：1997-09-15 00:00:00

abstract：:Protease nexin I (PNI) is the most important physiologic regulator of alpha-thrombin in tissues. PNI is highly expressed and developmentally regulated in the nervous system where it is concentrated at neuromuscular junctions and also central synapses in the hippocampus and striatum. Approximately 10% of identified pro...

journal_title：Genomics

authors： Carter RE,Cerosaletti KM,Burkin DJ,Fournier RE,Jones C,Greenberg BD,Citron BA,Festoff BW

更新日期：1995-05-01 00:00:00

abstract：:A wide range of autoimmune and other diseases are known to be associated with the major histocompatibility complex. Many of these diseases are linked to the genes encoding the polymorphic histocompatibility antigens in the class I and class II regions, but some appear to be more strongly associated with genes in the c...

journal_title：Genomics

authors： Albertella MR,Jones H,Thomson W,Olavesen MG,Campbell RD

更新日期：1996-09-01 00:00:00

abstract：:The key regulatory elements for PKD2 transcription remain unclear. To identify these core elements, we characterized porcine PKD2 promoter with bioinformatics and molecular tools and found porcine PKD2 promoter bearing typical features of enriched CpG and less TATA. Further studies demonstrated that the core region wa...

journal_title：Genomics

authors： Wang Q,Han G,Ye J,Gao X,Niu H,Zhao J,Chai Y,Li N,Yin H

更新日期：2014-12-01 00:00:00

abstract：:The functionality of sense-antisense transcripts (SATs), although widespread throughout the mammalian genome, is largely unknown. Here, we analyzed the SATs expression and its associated promoter DNA methylation status by surveying 12 tissues of mice to gain insights into the relationship between expression and DNA me...

journal_title：Genomics

authors： Watanabe Y,Numata K,Murata S,Osada Y,Saito R,Nakaoka H,Yamamoto N,Watanabe K,Kato H,Abe K,Kiyosawa H

更新日期：2010-12-01 00:00:00

abstract：:More than 500 backcross progeny from four intersubspecific backcrosses were typed for six markers on distal mouse chromosome 16. Five of these represented genes that mapped within the Sod-1 to Ets-2 interval, which was shown previously to contain the weaver (wv) gene. The map order, including previously mapped referen...

journal_title：Genomics

authors： Mjaatvedt AE,Citron MP,Reeves RH

更新日期：1993-08-01 00:00:00

abstract：:Despite the broad variety of available microRNA (miRNA) prediction tools, their application to the discovery and annotation of novel miRNA genes in domestic species is still limited. In this study we designed a comprehensive pipeline (eMIRNA) for miRNA identification in the yet poorly annotated porcine genome and demo...

journal_title：Genomics

authors： Mármol-Sánchez E,Cirera S,Quintanilla R,Pla A,Amills M

更新日期：2020-05-01 00:00:00

abstract：:A new Alcanivorax sp. VBW004 was isolated from a shallow hydrothermal vent in Azores Island, Portugal. In this study, we determined VBW004 was resistant to copper. This strain showed maximum tolerance of copper concentrations up to 600 μg/mL. Based on 16S rRNA gene sequencing and phylogeny revealed that this strain wa...

journal_title：Genomics

authors： Ramasamy KP,Rajasabapathy R,Lips I,Mohandass C,James RA

更新日期：2020-09-01 00:00:00

abstract：:We have previously reported a molecular and cytogenetic characterization of three different 5S rDNA clusters in the sea urchin Paracentrotus lividus and recently, demonstrated the presence of high heterogeneity in functional 5S rRNA. In this paper, we show some important distinctive data on 5S rRNA transcription for t...

journal_title：Genomics

authors： Bellavia D,Dimarco E,Naselli F,Caradonna F

更新日期：2013-10-01 00:00:00