Point mutation in the human dystrophin gene: identification through western blot analysis.

abstract：:Familial hemiplegic migraine (FHM) is a distinctive form of migraine with an autosomal dominant mode of inheritance. The migraine-like attacks are associated with transient hemiparesis. A locus for FHM has recently been assigned to chromosome 19 by linkage mapping. In the present study, five unrelated pedigrees with m...

journal_title：Genomics

authors： Ophoff RA,van Eijk R,Sandkuijl LA,Terwindt GM,Grubben CP,Haan J,Lindhout D,Ferrari MD,Frants RR

更新日期：1994-07-01 00:00:00

abstract：:Zebrafish transgenesis is a powerful and increasingly common strategy to assay vertebrate transcriptional regulatory control. Several challenges remain, however, to the broader application of this technique; they include increasing the rate with which transgenes can be analyzed and maximizing the informational value o...

journal_title：Genomics

authors： McGaughey DM,McCallion AS

更新日期：2010-06-01 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：: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：:Alternative splicing is an important cellular mechanism that increases the diversity of gene products. The number of alternatively spliced genes reported so far in plants is much smaller than that in mammals, but is increasing as a result of the explosive growth of available EST and genomic sequences. We have searched...

journal_title：Genomics

authors： Zhou Y,Zhou C,Ye L,Dong J,Xu H,Cai L,Zhang L,Wei L

更新日期：2003-12-01 00:00:00

abstract：:Insulin-like growth factor binding proteins (IGFBPs) constitute a family of at least six secreted proteins that bind insulin-like growth factors I and II (IGF-I and -II) and are capable of modifying IGF actions on target cells. We previously have purified an approximately 29-kDa IGFBP that is secreted by myoblasts dur...

journal_title：Genomics

authors： Kou K,Jenkins NA,Gilbert DJ,Copeland NG,Rotwein P

更新日期：1994-04-01 00:00:00

abstract：:Background Bioinformatics tools are of great significance and are used in different spheres of life sciences. There are wide variety of tools available to perform primary analysis of DNA and protein but most of them are available on different platforms and many remain undetected. Accessing these tools separately to pe...

journal_title：Genomics

authors： Iqbal MN,Rasheed MA,Awais M,Chammam W,Kanwal S,Khan SU,Saddick S,Tlili I

更新日期：2020-11-01 00:00:00

abstract：:In extracellular fluids the insulin-like growth factors (IGFs) are bound to specific binding proteins (IGBPs). The genes for two members of this protein family have been mapped, the IGBP1 gene to human chromosomal region 7p14-p12 and the IGBP2 gene to region 2q33-q34. In this study, somatic cell hybrid analysis indica...

journal_title：Genomics

authors： Ehrenborg E,Larsson C,Stern I,Janson M,Powell DR,Luthman H

更新日期：1992-03-01 00:00:00

abstract：:The major component of the vascular and plaque amyloid deposits in Alzheimer disease is the amyloid beta peptide (A beta). A second intrinsic component of amyloid, the NAC (non-A beta component of amyloid) peptide, has recently been identified, and its precursor protein was named NACP. A computer homology search allow...

journal_title：Genomics

authors： Campion D,Martin C,Heilig R,Charbonnier F,Moreau V,Flaman JM,Petit JL,Hannequin D,Brice A,Frebourg T

更新日期：1995-03-20 00:00:00

abstract：:Data for genome-wide association studies are being collected for a myriad of phenotypes. Many of these studies do not include control samples selected to reflect ancestry similar to the case samples. At the same time "control databases" are becoming available to be utilized as a common resource. These data are often g...

journal_title：Genomics

authors： Roeder K,Luca D

更新日期：2009-01-01 00:00:00

abstract：:DNA methylation is a major epigenetic modification of the genome that affects basic biological functions, such as gene expression and cell development. We used the human genome sequences and the DNA methylation data that are available in order to establish a map of the levels of GC and methylation in isochores. We als...

journal_title：Genomics

authors： Varriale A,Bernardi G

更新日期：2010-01-01 00:00:00

abstract：:Gene targeting is widely used for the precise manipulation of genes. However, in the model organism Caenorhabditis elegans non-transposon mediated gene targeting remains laborious, and as a result has not been widely used. One obstacle to the wider use of this approach is the difficulty of identifying homologous recom...

journal_title：Genomics

authors： Vázquez-Manrique RP,Legg JC,Olofsson B,Ly S,Baylis HA

更新日期：2010-01-01 00:00:00

abstract：:We report the construction of a 1.5-Mb-resolution radiation hybrid map of the domestic cat genome. This new map includes novel microsatellite loci and markers derived from the 2X genome sequence that target previous gaps in the feline-human comparative map. Ninety-six percent of the 1793 cat markers we mapped have ide...

journal_title：Genomics

authors： Murphy WJ,Davis B,David VA,Agarwala R,Schäffer AA,Pearks Wilkerson AJ,Neelam B,O'Brien SJ,Menotti-Raymond M

更新日期：2007-02-01 00:00:00

abstract：:The acyl-CoA dehydrogenases (ACDs) are a family of mitochondrial enzymes that oxidize straight chain or branched chain acyl-CoAs in the metabolism of fatty acids or branched chain amino acids. Deficiencies in members of this gene family are important causes of human disease. A cDNA encoding the human precursor for a n...

journal_title：Genomics

authors： Rozen R,Vockley J,Zhou L,Milos R,Willard J,Fu K,Vicanek C,Low-Nang L,Torban E,Fournier B

更新日期：1994-11-15 00:00:00

abstract：:The present investigation was focused to study genomic diversity of Indian swamp buffalo populations through reduced representation approach (ddRAD). The heterozygosity (FST) among the swamp buffaloes was 0.11 between Assam and Manipuri; 0.20 between swamp (Manipuri) and riverine buffaloes; 0.30 between swamp (Manipur...

journal_title：Genomics

authors： Ravi Kumar D,Joel Devadasan M,Surya T,Vineeth MR,Choudhary A,Sivalingam J,Kataria RS,Niranjan SK,Tantia MS,Verma A

更新日期：2020-05-01 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：:In an attempt to identify C/EBP-like transcription factors expressed in the prostate, a cDNA homologous to the mouse C/EBP delta (CRP3) and the rat CELF gene was isolated. A genomic clone containing the entire C/EBP delta gene was isolated using a cDNA fragment as a probe. The gene was characterized by restriction map...

journal_title：Genomics

authors： Cleutjens CB,van Eekelen CC,van Dekken H,Smit EM,Hagemeijer A,Wagner MJ,Wells DE,Trapman J

更新日期：1993-05-01 00:00:00

abstract：:The spectrum of cystic fibrosis (CF) mutations was determined in 105 patients by using denaturing gradient gel electrophoresis to screen the entire coding regions and adjacent cystic fibrosis transmembrane conductance regulator (CFTR) gene sequences. The nucleotide substitutions detected included 16 novel mutations, 1...

journal_title：Genomics

authors： Fanen P,Ghanem N,Vidaud M,Besmond C,Martin J,Costes B,Plassa F,Goossens M

更新日期：1992-07-01 00:00:00

abstract：:The LIM domain is a structural motif that is well conserved throughout evolution in a variety of factors known to play important roles in development and cell regulation. Ldb genes encode LIM domain-binding (Ldb) factors. Here we report on the structural organization and chromosomal localization of the mouse Ldb1 gene...

journal_title：Genomics

authors： Yamashita T,Agulnick AD,Copeland NG,Gilbert DJ,Jenkins NA,Westphal H

更新日期：1998-02-15 00:00:00

abstract：:Fine mapping followed by candidate gene analysis of erd - a canine hereditary retinal degeneration characterized by aberrant photoreceptor development - established that the disease cosegregates with a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts and is p...

journal_title：Genomics

authors： Goldstein O,Kukekova AV,Aguirre GD,Acland GM

更新日期：2010-12-01 00:00:00

abstract：:An exon representing a novel clathrin heavy chain gene (CLTCL) was isolated during gene identification studies and transcription mapping of human chromosome 22. Isolation and sequencing of cDNA clones corresponding to this exon revealed extensive similarity of the predicted amino acid sequence of this gene product to ...

journal_title：Genomics

authors： Long KR,Trofatter JA,Ramesh V,McCormick MK,Buckler AJ

更新日期：1996-08-01 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：:Laboratory mouse strains are known to have emerged from recent interbreeding between individuals of Mus musculus isolated populations. As a result of this breeding history, the collection of polymorphisms observed between laboratory mouse strains is likely to harbor the effects of natural selection between reproductiv...

journal_title：Genomics

authors： Reuveni E,Birney E,Gross CT

更新日期：2010-04-01 00:00:00

abstract：:Several studies have reported significant linkage for schizophrenia on 6p23, with a maximum lod score between D6S274 and D6S285. In this paper, we present a new human kinesin gene localized in this 2-cM interval. This gene, termed KIF13A, belongs to the unc-104/KIF1A kinesin subfamily and represents the orthologue of ...

journal_title：Genomics

authors： Jamain S,Quach H,Fellous M,Bourgeron T

更新日期：2001-05-15 00:00:00

abstract：:Six of the human minisatellites detected by DNA fingerprint probes have been localized by in situ hybridization to human metaphase chromosomes. These hypervariable loci are not dispersed at random in the human genome, but show preferential, though not exclusive, localization to terminal G-bands of human autosomes. Two...

journal_title：Genomics

authors： Royle NJ,Clarkson RE,Wong Z,Jeffreys AJ

更新日期：1988-11-01 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：:The human genome contains a group of gene families whose members map within the same regions of chromosomes 1, 6, and 9. The number of gene families involved and their pronounced clustering to the same areas of the genome indicate that their mapping relationship is nonrandom. By combining mapping data and sequence inf...

journal_title：Genomics

authors： Katsanis N,Fitzgibbon J,Fisher EM

更新日期：1996-07-01 00:00:00

abstract：:In this report we define the genes of two-component regulatory systems in rice through a comprehensive computational analysis of rice (Oryza sativa L.) genome sequence databases. Thirty-seven genes were identified, including 5 HKs (cytokinin-response histidine protein kinase) (OsHK1-4, OsHKL1), 5 HPs (histidine phosph...

journal_title：Genomics

authors： Du L,Jiao F,Chu J,Jin G,Chen M,Wu P

更新日期：2007-06-01 00:00:00

abstract：:To facilitate the practical application of highly efficient semiautomated methods for general application in genomic analyses, we have developed a fluorescence-based microsatellite marker resource. Ninety highly polymorphic microsatellite markers were combined to provide a rapid, accurate, and highly efficient initial...

journal_title：Genomics

authors： Levitt RC,Kiser MB,Dragwa C,Jedlicka AE,Xu J,Meyers DA,Hudson JR

更新日期：1994-11-15 00:00:00

abstract：:The gene mutated in chorea-acanthocytosis (CHAC; approved gene symbol VPS13A) encodes chorein, a protein similar to yeast Vps13p. We detected several similar putative human proteins by BLAST analysis of chorein. We characterized the structure of three new genes encoding these CHAC-similar proteins, located on chromoso...

journal_title：Genomics

authors： Velayos-Baeza A,Vettori A,Copley RR,Dobson-Stone C,Monaco AP

更新日期：2004-09-01 00:00:00