An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.

abstract：:In this report the identification, structure, and chromosomal localization of the human neurogranin gene (NRGN) are described. NRGN is the human homolog of the rat Ng/RC3 gene, which encodes a brain-specific protein expressed in telencephalic neurons. The human NRGN gene spans approximately 12 kb and contains four exo...

journal_title：Genomics

authors： Martínez de Arrieta C,Pérez Jurado L,Bernal J,Coloma A

更新日期：1997-04-15 00:00:00

abstract：:A 1.8-kb cDNA clone (designed hKID, gene symbol AQP2L) with homology to the aquaporins was isolated from a human kidney cDNA library. The longest open reading frame of 846 bp encoded a 282-amino-acid hydrophobic protein that contained the conserved NPA motifs of MIP family members. Cell-free translation produced a non...

journal_title：Genomics

authors： Ma T,Yang B,Kuo WL,Verkman AS

更新日期：1996-08-01 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：:Genotypes and allelic frequencies of TPH2, 5-HTTLPR, the 5-HTT (SLC6A4) intron 2 variable-number tandem repeat (VNTR) region, and the MAOA VNTR region were determined in brain-stem samples of 20 "genuine" SIDS cases and compared with results obtained from 150 healthy controls. The SNP G1463A responsible for 80% functi...

journal_title：Genomics

authors： Nonnis Marzano F,Maldini M,Filonzi L,Lavezzi AM,Parmigiani S,Magnani C,Bevilacqua G,Matturri L

更新日期：2008-06-01 00:00:00

abstract：:In our previous studies, diploid and triploid hybrids have been detected from the hybridization of Epinephelus coioides♀ × E. lanceolatus♂. The triploid groupers have been found to be delayed in gonadal development, but the mechanism remains poorly understood. In this study, we examined the gonadal development, assaye...

journal_title：Genomics

authors： Xiao L,Wang D,Guo Y,Tang Z,Liu Q,Li S,Zhang Y,Lin H

更新日期：2019-05-01 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

abstract：:Multiple inositol polyphosphate phosphatase is the only enzyme known to hydrolyze the abundant metabolites inositol pentakisphosphate and inositol hexakisphosphate. We have previously demonstrated that the chick homolog of multiple inositol polyphosphate phosphatase, designated HiPER1, has a role in growth plate chond...

journal_title：Genomics

authors： Chi H,Tiller GE,Dasouki MJ,Romano PR,Wang J,O'keefe RJ,Puzas JE,Rosier RN,Reynolds PR

更新日期：1999-03-15 00:00:00

abstract：:Cardiac hypertrophy is an important risk factor for cardiac morbidity and mortality. To unravel the underlying pathogenic genetic pathways, we hybridized left ventricular RNA from Transverse Aortic Constriction mice at 48 h, 1 week, and 2, 3, and 8 weeks after surgery to microarrays containing a 15K fetal cDNA collect...

journal_title：Genomics

authors： van den Bosch BJ,Lindsey PJ,van den Burg CM,van der Vlies SA,Lips DJ,van der Vusse GJ,Ayoubi TA,Doevendans PA,Smeets HJ

更新日期：2006-10-01 00:00:00

abstract：:We present evidence of linkage between markers on chromosome 12 and asthma using the BETA program for nonparametric single- and multipoint linkage analysis. We have used quantitative scores as our phenotypic variables, combining data into indices for asthma and atopy and maximizing heritability. The largest single-loc...

journal_title：Genomics

authors： Wilkinson J,Grimley S,Collins A,Thomas NS,Holgate ST,Morton N

更新日期：1998-11-01 00:00:00

abstract：:Co-expression networks may provide insights into the patterns of molecular interactions that underlie cellular processes. To obtain a better understanding of miRNA expression patterns in gastric adenocarcinoma and to provide markers that can be associated with histopathological findings, we performed weighted gene cor...

journal_title：Genomics

authors： Yepes S,López R,Andrade RE,Rodriguez-Urrego PA,López-Kleine L,Torres MM

更新日期：2016-08-01 00:00:00

abstract：:DNA libraries often contain very large numbers of clones (from 1000 up to 700,000). Since at present it is impossible to analyze all of these clones, usually statistical samples comprising less than 100 clones are tested. The quality of the library is then assessed by linear extrapolation. Occasionally, full coverage ...

journal_title：Genomics

authors： Köllner M,Greulich KO

更新日期：1994-09-01 00:00:00

abstract：:Long sequencing reads offer unprecedented opportunities in analysis and reconstruction of complex genomic regions. However, the gain in sequence length is often traded for quality. Therefore, recently several approaches have been proposed (e.g. higher sequencing coverage, hybrid assembly or sequence correction) to enh...

journal_title：Genomics

authors： Mahmoud M,Zywicki M,Twardowski T,Karlowski WM

更新日期：2019-01-01 00:00:00

abstract：:Salinity is a major limiting factor in crop production. Exogenous spermidine (spd) effectively ameliorates salt injury, though the underlying molecular mechanism is poorly understood. We have used a suppression subtractive hybridization method to construct a cDNA library that has identified up-regulated genes from ric...

journal_title：Genomics

authors： Saha J,Giri K,Roy S

更新日期：2020-11-01 00:00:00

abstract：BACKGROUND:Renal fibrosis is a final common pathway of chronic kidney disease. SIRT1, a NAD+-dependent protein deacetylase, deacetylates the p65 of NF-κB and shows protective effects in kidney disorders. miR-373 directly targets the 3'UTR of SIRT1. However, roles of miR-373 in renal fibrosis are unclear. METHODS:TGF-β...

journal_title：Genomics

authors： Yang H,Liao D,Tong L,Zhong L,Wu K

更新日期：2019-07-01 00:00:00

abstract：:The recessive male sterility and histoincompatibility (mshi) mutation in the mouse generates pleiotropic effects on histocompatibility and male reproduction, while female mutants appear to be reproductively normal. We have mapped the mshi mutation to mouse Chromosome (Chr) 10 by analysis of 126 progeny from an intrasp...

journal_title：Genomics

authors： Turner JP,Carpentino JE,Cantwell AM,Hildebrandt AL,Myrie KA,King TR

更新日期：1997-01-01 00:00:00

abstract：:A genetic map of nine loci defined by polymorphic DNA markers was created using a single cross of F344/N and LEW/N rats. The markers contained polymorphic simple sequence repeats identified in five genes, renin (Ren), cardiac troponin T (Tnnt3), synaptotagmin (Syt2), Na+,K(+)-ATPase catalytic subunit (Atp1a2), and the...

journal_title：Genomics

authors： Remmers EF,Goldmuntz EA,Zha H,Mathern P,Du Y,Crofford LJ,Wilder RL

更新日期：1993-11-01 00:00:00

abstract：:RNA-seq is the method of choice for getting a primary list of genes for non-model organisms. Once this is achieved, one would proceed to annotate the newly discovered genes and consequently strive to position the organism in an evolutionary context. These kinds of studies involving high-throughput sequencing generate ...

journal_title：Genomics

authors： Zahavi T,Stelzer G,Strauss L,Salmon AY,Salmon-Divon M

更新日期：2015-03-01 00:00:00

abstract：:In the course of a systematic survey of DMD and BMD patients with intronic probes and with cDNA probes covering three-fourths of the coding sequence, 45 molecular deletions within the DMD gene were investigated. Forty-two percent of the breakpoints were located in the intronic sequence containing probe P20, whereas th...

journal_title：Genomics

authors： Gilgenkrantz H,Chelly J,Lambert M,Récan D,Barbot JC,van Ommen GJ,Kaplan JC

更新日期：1989-10-01 00:00:00

abstract：:Denaturing high-performance liquid chromatography (DHPLC) is a novel high-capacity technique for detecting new mutations. We have evaluated the sensitivity and specificity of this method in a blind analysis of exon H of the factor IX gene and exon 16 of the neurofibromatosis type 1 gene. Under a single set of conditio...

journal_title：Genomics

authors： O'Donovan MC,Oefner PJ,Roberts SC,Austin J,Hoogendoorn B,Guy C,Speight G,Upadhyaya M,Sommer SS,McGuffin P

更新日期：1998-08-15 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：: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：:Rat CL-6 is the most highly insulin-induced gene in a liver cell line and is expressed in proliferating liver during regeneration and development. CL-6 is now denoted INSIG1 (insulin-induced gene 1). Human INSIG1 was isolated and found to be 80% identical to the rat gene within the translated region. It was located on...

journal_title：Genomics

authors： Peng Y,Schwarz EJ,Lazar MA,Genin A,Spinner NB,Taub R

更新日期：1997-08-01 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

abstract：AIM:The objective of this study is to examine the alterations in the levels of expression of serum lncRNA-TSIX, TP53INP2 mRNA, miRNA-1283 in spinal cord injured (SCI) patients versus healthy control. METHOD:The expression of the selected RNAs in the sera was determined in 23 patients suffering from acute spinal cord i...

journal_title：Genomics

authors： Salah SMM,Matboli M,Nasser HE,Abdelnaiem IA,Shafei AE,El-Asmer MF

更新日期：2020-09-01 00:00:00

abstract：:Neurexins are neuron-specific vertebrate proteins with hundreds of differentially spliced isoforms that may function in synapse organization. We now show that Drosophila melanogaster and Caenorhabditis elegans express a single gene encoding only an alpha-neurexin, whereas humans and mice express three genes, each of w...

journal_title：Genomics

authors： Tabuchi K,Südhof TC

更新日期：2002-06-01 00:00:00

abstract：:Silencing of tissue-specific gene expression in mammalian somatic cell hybrids is a well-documented epigenetic phenomenon which is both profound (involving a large number of genes) and enigmatic. Our aim was to utilize whole-genome microarray analyses to determine the true extent of gene silencing on a genomic level. ...

journal_title：Genomics

authors： Bulla GA,Luong Q,Shrestha S,Reeb S,Hickman S

更新日期：2010-12-01 00:00:00

abstract：:The transforming growth factor beta (TGF-beta) superfamily is a family of multifunctional cytokines that transduce signals via serine/threonine kinase receptors. Recent studies revealed that Mothers against dpp (Mad) in Drosophila and its homologs play important roles in the intracellular signal transduction of the se...

journal_title：Genomics

authors： Takenoshita S,Mogi A,Nagashima M,Yang K,Yagi K,Hanyu A,Nagamachi Y,Miyazono K,Hagiwara K

更新日期：1998-02-15 00:00:00

abstract：:We have constructed a genetic linkage map of 17 markers on the long arm of human chromosome 21, including six genes and two anonymous loci with a variable number of tandem repeats. The estimated length of the map is 103 cM in males and 140 cM in females, assuming Kosambi interference. Recombination in females was appr...

journal_title：Genomics

authors： Warren AC,Slaugenhaupt SA,Lewis JG,Chakravarti A,Antonarakis SE

更新日期：1989-05-01 00:00:00

abstract：:The chromosomal locations of mouse DNA sequences homologous to a feline cDNA clone encoding glutamic acid decarboxylase (GAD) were determined. Although cats and humans are thought to have only one gene for GAD, GAD cDNA sequences hybridize to two distinct chromosomal loci in the mouse, chromosomes 2 and 10. The chromo...

journal_title：Genomics

authors： Brilliant MH,Szabo G,Katarova Z,Kozak CA,Glaser TM,Greenspan RJ,Housman DE

更新日期：1990-01-01 00:00:00

abstract：:Full-length coding sequences of two novel human cadherin cDNAs were obtained by sequence analysis of several EST clones and 5' and 3' rapid amplification of cDNA ends (RACE) products. Exons for a third cDNA sequence were identified in a public-domain human genomic sequence, and the coding sequence was completed by 3' ...

journal_title：Genomics

authors： Kools P,Van Imschoot G,van Roy F

更新日期：2000-09-15 00:00:00