Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker.

abstract：:The alpha 1 subunit genes encoding voltage-dependent Ca2+ channels are members of a gene family. We have used human brain cDNA probes to localize the neuronal isoform genes CACNL1A4 (alpha 1A), CACNL1A5 (alpha 1B), and CACNL1A6 (alpha 1E) to 19p13, 9q34, and 1q25-q31, respectively, using fluorescence in situ hybridiza...

journal_title：Genomics

authors： Diriong S,Lory P,Williams ME,Ellis SB,Harpold MM,Taviaux S

更新日期：1995-12-10 00:00:00

abstract：:Human/rodent somatic cell hybrids have been exceedingly useful in assigning human genes and DNA sequences to specific human chromosomes. As new technologies for analyzing the human chromosome complement of such human/rodent hybrid cells become available, it is of critical importance that these be applied to enhance ch...

journal_title：Genomics

authors： Patterson D,Hart I,Lai LW,Brahe C,Moscetti A,Tassone F,Raimondi E,Jones C

更新日期：1993-01-01 00:00:00

abstract：:Pulmonary surfactant consists of a complex mixture of phospholipids and several proteins essential to normal respiratory function. Two of the surfactant proteins, SP-A and SP-D, appear to have lectin-like activity relevant to the local phagocytic defense. Using polymerase chain reaction (PCR)-based somatic cell hybrid...

journal_title：Genomics

authors： Kölble K,Lu J,Mole SE,Kaluz S,Reid KB

更新日期：1993-08-01 00:00:00

abstract：:Madin-Darby canine kidney(MDCK) cells can be used to prepare cell-based influenza vaccines; however, little is known regarding the effect of lncRNA regulatorson tumorigenicity. In the present study, two cell lines with low tumorigenicity were screened from highly tumorigenic MDCK cell lines using monoclonal cell techn...

journal_title：Genomics

authors： Qiao Z,Yang D,Liu L,Liu Z,Wang J,He D,Wu H,Wang J,Ma Z

更新日期：2020-03-01 00:00:00

abstract：:To predict the functions of a possible protein product of any new or uncharacterized DNA sequence, it is important first to detect all significant similarities between the encoded amino acid sequence and any accumulated protein sequence data. We have implemented a set of queries and database sequences and proceeded to...

journal_title：Genomics

authors： Shpaer EG,Robinson M,Yee D,Candlin JD,Mines R,Hunkapiller T

更新日期：1996-12-01 00:00:00

abstract：:Cell wall lytic enzymes play key roles in biochemical, morphological, genetic research and industry fields. To save time and labor costs， bioinformatic methods are usually adopted to narrow the scope of in vitro experimentation. In this paper, we established a novel machine learning (support vector machine) based iden...

journal_title：Genomics

authors： Meng C,Wu J,Guo F,Dong B,Xu L

更新日期：2020-11-01 00:00:00

abstract：:One hundred forty-nine chromosome 15 loci were mapped by PCR with respect to chromosome breakpoints in three somatic cell hybrids retaining total or part of chromosome 15 and to a 10-Mb YAC contig. This chromosome was subdivided into 5 regions, yielding an average resolution of more than 1 sequence tagged site per meg...

journal_title：Genomics

authors： Richard I,Broux O,Chiannilkulchai N,Fougerousse F,Allamand V,Bourg N,Brenguier L,Devaud C,Pasturaud P,Roudaut C

更新日期：1994-10-01 00:00:00

abstract：:A key challenge in analyzing metagenomics data pertains to assembly of sequenced DNA fragments (i.e. reads) originating from various microbes in a given environmental sample. Several existing methodologies can assemble reads originating from a single genome. However, these methodologies cannot be applied for efficient...

journal_title：Genomics

authors： Reddy RM,Mohammed MH,Mande SS

更新日期：2014-02-01 00:00:00

abstract：:Perilipin 1 (PLIN1) protein, also known as lipid droplet-associated protein, is encoded by the PLIN1 gene and is able to anchor itself to the membranes of lipid droplets. The phosphorylation of PLIN1 is critical for the mobilization of fat in adipose tissue and plays an important role in regulating lipolysis and lipid...

journal_title：Genomics

authors： Shijun L,Khan R,Raza SHA,Jieyun H,Chugang M,Kaster N,Gong C,Chunping Z,Schreurs NM,Linsen Z

更新日期：2020-05-01 00:00:00

abstract：:Indolethylamine N-methyltransferase (INMT) catalyzes the N-methylation of tryptamine and structurally related compounds. We recently cloned and characterized the rabbit INMT cDNA and gene as a step toward cloning the cDNA and gene for this enzyme in humans. We have now used a PCR-based approach to clone a human INMT c...

journal_title：Genomics

authors： Thompson MA,Moon E,Kim UJ,Xu J,Siciliano MJ,Weinshilboum RM

更新日期：1999-11-01 00:00:00

abstract：:IB1/JIP-1 is a scaffold protein that regulates the c-Jun NH(2)-terminal kinase (JNK) signaling pathway, which is activated by environmental stresses and/or by treatment with proinflammatory cytokines including IL-1beta and TNF-alpha. The JNKs play an essential role in many biological processes, including the maturatio...

journal_title：Genomics

authors： Negri S,Oberson A,Steinmann M,Sauser C,Nicod P,Waeber G,Schorderet DF,Bonny C

更新日期：2000-03-15 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：:Uroporphyrinogen-III synthase (URO-S; EC 4.2.1.75), the fourth enzyme in the heme biosynthetic pathway, is responsible for the conversion of hydroxymethylbilane to the cyclic tetrapyrrole, uroporphyrinogen III. The deficient activity of URO-S is the enzymatic defect in congenital erythropoietic porphyria (CEP), an aut...

journal_title：Genomics

authors： Xu W,Kozak CA,Desnick RJ

更新日期：1995-04-10 00:00:00

abstract：:The gene for X-linked agammaglobulinemia (XLA) has been mapped to Xq22. No recombinations have been reported between the gene and the probe p212 at DXS178; however, this probe is informative in only 30-40% of women and the reported flanking markers, DXS3 and DXS94, are 10-15 cM apart. To identify additional probes tha...

journal_title：Genomics

authors： Parolini O,Hejtmancik JF,Allen RC,Belmont JW,Lassiter GL,Henry MJ,Barker DF,Conley ME

更新日期：1993-02-01 00:00:00

abstract：:The STM7 gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase (PtdInsP 5-kinase) that is subject to alternative splicing and developmental control. We have recently presented data indicating that several splice variants of STM7 incorporate elements of the X25 sequence, previously implicated in the pathogenes...

journal_title：Genomics

authors： Pook MA,Carvajal JJ,Doudney K,Hillermann R,Chamberlain S

更新日期：1997-05-15 00:00:00

abstract：:Sp4H is a semi-dominant mutation that maps to mouse chromosome 1. Heterozygous mice exhibit white spotting of the belly, whereas the fate of the homozygous embryos is unknown. We have previously shown that the entire coding region of the Pax3 gene is deleted in the Sp4H mutant. In this study, we have analyzed the fate...

journal_title：Genomics

authors： Fleming J,Pearce A,Brown SD,Steel KP

更新日期：1996-06-01 00:00:00

abstract：:The ADH7 gene encoding human Class IV (sigma) alcohol dehydrogenase (ADH) was cloned from a Caucasian genomic DNA library and characterized. It has nine exons and eight introns that span about 22 kb, and its intron insertion is identical to that of the other ADH genes (ADH1 to ADH5). The nucleotide sequences of the ex...

journal_title：Genomics

authors： Yokoyama H,Baraona E,Lieber CS

更新日期：1996-01-15 00:00:00

abstract：:The complete coding sequence for mouse tropoelastin was obtained from overlapping reverse transcriptase polymerase chain reaction (PCR) amplimers. These cDNA fragments were derived from mouse tropoelastin mRNA using PCR oligomers complementary to conserved domains within rat tropoelastin mRNA. A comparison of coding d...

journal_title：Genomics

authors： Wydner KS,Sechler JL,Boyd CD,Passmore HC

更新日期：1994-09-01 00:00:00

abstract：:Coevolution of cellular genetic compartments is a fundamental aspect in eukaryotic genome evolution that becomes apparent in serious developmental disturbances after interspecific organelle exchanges. The genus Oenothera represents a unique, at present the only available, resource to study the role of the compartmenta...

journal_title：Genomics

authors： Mrácek J,Greiner S,Cho WK,Rauwolf U,Braun M,Umate P,Altstätter J,Stoppel R,Mlcochová L,Silber MV,Volz SM,White S,Selmeier R,Rudd S,Herrmann RG,Meurer J

更新日期：2006-09-01 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：:We show a mute 9.1-kb gap in the human genome reference map, unraveled by RDA studies, to be a worldwide deletion/insertion polymorphism of stable type. The molecular and population data presented suggest its origin from a unique ancestral transposition event in chromosomal region 22q11.2, overlapping the IglambdaV ge...

journal_title：Genomics

authors： Robledo R,Orru S,Sidoti A,Muresu R,Esposito D,Grimaldi MC,Carcassi C,Rinaldi A,Bernini L,Contu L,Romani M,Roe B,Siniscalco M

更新日期：2002-12-01 00:00:00

abstract：BACKGROUND:Copy number variations (CNV) are regional deviations from the normal autosomal bi-allelic DNA content. While germline CNVs are a major contributor to genomic syndromes and inherited diseases, the majority of cancers accumulate extensive "somatic" CNV (sCNV or CNA) during the process of oncogenetic transforma...

journal_title：Genomics

authors： Gao B,Baudis M

更新日期：2020-09-01 00:00:00

abstract：:Glutaredoxin is a small protein (12 kDa) catalyzing glutathione-dependent disulfide oxidoreduction reactions in a coupled system with NADPH, GSH, and glutathione reductase. A cDNA encoding the human glutaredoxin gene (HGMW-approved symbol GLRX) has recently been isolated and cloned from a human fetal spleen cDNA libra...

journal_title：Genomics

authors： Padilla CA,Bajalica S,Lagercrantz J,Holmgren A

更新日期：1996-03-15 00:00:00

abstract：:Non-coding RNA (ncRNA) is a kind of RNA, produced by genomic transcription and does not encode protein, but can regulate the function of genes, thus widely regulating pathological and physiological processes. The dynamic balance of the reticular structure between them is needed to regulate the homeostasis, the abnorma...

journal_title：Genomics

authors： Su Q,Lv X

更新日期：2020-03-01 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：:Genes that encode the vertebrate fibrillar collagen types I-III have previously been shown to share a highly conserved intron/exon organization, thought to reflect common ancestry and evolutionary pressures at the protein level. We report here the complete intron/exon organization of COL5A1, the human gene that encode...

journal_title：Genomics

authors： Takahara K,Hoffman GG,Greenspan DS

更新日期：1995-10-10 00:00:00

abstract：:Microcell hybrids containing various regions of human chromosome 8 were formed by microcell-mediated transfer of neo-tagged chromosome 8 into the cells derived from severe combined immunodeficiency (SCID) mouse. Thus, 110 cosmid markers were isolated from SV40-transformed SCID fibroblast cell line (SCVA) containing a ...

journal_title：Genomics

authors： Kurimasa A,Suzuki N,Kumano S,Li H,Wells D,Wagner MJ,Chen F,Chen DJ,Oshimura M

更新日期：1995-07-20 00:00:00

abstract：:Aspartylglucosaminuria (AGU) is a recessively inherited lysosomal disease caused by inadequate aspartylglucosaminidase (AGA) activity. The disease is prevalent in the genetically isolated Finnish population. We have used a new method, solid-phase minisequencing, to determine the frequency of two missense mutations in ...

journal_title：Genomics

authors： Syvänen AC,Ikonen E,Manninen T,Bengtström M,Söderlund H,Aula P,Peltonen L

更新日期：1992-03-01 00:00:00

abstract：:Equine Cerebellar Abiotrophy (CA) is a neurological disease found in Arabian horses. CA is characterized by post-natal degeneration of the Purkinje cells of the cerebellum. Signs of CA include ataxia, head tremors, and a lack of balance equilibrium. We have discovered a linkage of the CA phenotype to a microsatellite ...

journal_title：Genomics

authors： Brault LS,Cooper CA,Famula TR,Murray JD,Penedo MC

更新日期：2011-02-01 00:00:00

abstract：:DNA 5' to the human myelin basic protein (MBP) gene, mapped to 18q22----qter, is known to manifest multiallelic DNA length variation with heterozygosity of at least 45%. Isolation of genomic DNA containing the MBP gene first exon and its 5' flanking region reveals that this polymorphism arises from a 994-bp region of ...

journal_title：Genomics

authors： Boylan KB,Ayres TM,Popko B,Takahashi N,Hood LE,Prusiner SB

更新日期：1990-01-01 00:00:00