A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy.

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：: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：:A significant fraction of the human genome is composed of various types of transposable elements, which are divided into two broad classes based on their mehcanism of transposition: via an RNA intermediate (retroelements) or via a DNA intermediate (DNA transposons). The retroelements, which include endogenous retrovir...

journal_title：Genomics

authors： Hughes JF,Coffin JM

更新日期：2002-11-01 00:00:00

abstract：:We report the cDNA sequence for the bovine gene for fibrillin corresponding to the human gene, fibrillin 1 (FBN1), and the localization of the gene to bovine chromosome 10 (syntenic group U5). The identity between the human and bovine sequences is 97.8% at the amino acid level and 92% at the nucleotide level. The bovi...

journal_title：Genomics

authors： Tilstra DJ,Li L,Potter KA,Womack J,Byers PH

更新日期：1994-09-15 00:00:00

abstract：:Knowledge of protein subcellular localization is vitally important for both basic research and drug development. With the avalanche of protein sequences emerging in the post-genomic age, it is highly desired to develop computational tools for timely and effectively identifying their subcellular localization purely bas...

journal_title：Genomics

authors： Xiao X,Cheng X,Chen G,Mao Q,Chou KC

更新日期：2019-07-01 00:00:00

abstract：:The adrenoleukodystrophy-related gene (ALDR, ABCD2) is a candidate modifier gene and a potential therapeutic target for X-linked adrenoleukodystrophy (ALD), a severe neurodegenerative disease. The ALDR gene is the closest homologue of the ALD gene, which encodes a peroxisomal ABC transporter involved in the catabolism...

journal_title：Genomics

authors： Pujol A,Troffer-Charlier N,Metzger E,Chimini G,Mandel JL

更新日期：2000-11-15 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：:We have previously described the cDNA coding for a new lipoprotein receptor that contains domains closely related to the ligand-binding domain of the LDL receptor. We have now investigated the localization of the gene for this new receptor by hybridization of the cDNA to panels of rodent cells containing subsets of hu...

journal_title：Genomics

authors： Myklebost O,Arheden K,Rogne S,Geurts van Kessel A,Mandahl N,Herz J,Stanley K,Heim S,Mitelman F

更新日期：1989-07-01 00:00:00

abstract：:Genomic imprinting, the differential expression of paternal and maternal alleles, involves many chromosomal regions and plays a role in development and growth. Differential methylation of maternal and paternal alleles is a hallmark of imprinted genes, and thus methylation assays are widely used to support the identifi...

journal_title：Genomics

authors： Hannula K,Lipsanen-Nyman M,Scherer SW,Holmberg C,Höglund P,Kere J

更新日期：2001-04-01 00:00:00

abstract：:Proteins governing cell death form the basis of many normal processes and contribute to the pathogenesis of many diseases when dysregulated. Here we report the cloning of a novel human CED-4-like gene, CLAN, and several of its alternatively spliced isoforms. These caspase-associated recruitment domain (CARD)-containin...

journal_title：Genomics

authors： Damiano JS,Stehlik C,Pio F,Godzik A,Reed JC

更新日期：2001-07-01 00:00:00

abstract：:We have analyzed tumor and lymphocyte DNA from six breast cancer patients by one- and two-dimensional DNA fingerprinting using micro- and minisatellite core probes to estimate the extent and nature of DNA alterations in tumors. Both approaches were compared regarding sensitivity in genome analysis. We find that the nu...

journal_title：Genomics

authors： Hovig E,Mullaart E,Børresen AL,Uitterlinden AG,Vijg J

更新日期：1993-07-01 00:00:00

abstract：:Through its three operating programs, the Howard Hughes Medical Institute has supported a substantial amount of basic and clinical molecular research, has acted as a facilitator in initiating and funding a number of meetings, nationally and internationally, including work groups dealing with databases, and has support...

journal_title：Genomics

authors： Cahill GF,Hinton DR

更新日期：1989-11-01 00:00:00

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：:Neurofibromatosis type 2 (NF2) is a dominantly inherited disease characterized by the development of bilateral vestibular schwannomas and meningiomas, which together represent 30% of primary brain tumors. The NF2 gene, which has recently been isolated, maps to the long arm of human chromosome 22. Using recombinant inb...

journal_title：Genomics

authors： Claudio JO,Malo D,Rouleau GA

更新日期：1994-05-15 00:00:00

abstract：:Specific language impairment (SLI) is defined as failure to acquire normal language skills despite adequate intelligence and environmental stimulation. Although SLI disorders are often heritable, the genetic basis is likely to involve a number of risk factors. This study describes a 7-year-old girl carrying an inherit...

journal_title：Genomics

authors： Kwasnicka-Crawford DA,Carson AR,Roberts W,Summers AM,Rehnström K,Järvelä I,Scherer SW

更新日期：2005-08-01 00:00:00

abstract：:We have constructed a high-resolution map of a 6-Mb interval of human chromosome 5, band q31, incorporating 175 sequence tagged sites, of which 33 are genetic polymorphisms and 122 are nonredundant expressed sequences. The map was assembled initially as a YAC contig, incorporating data from radiation hybrid maps. To i...

journal_title：Genomics

authors： Horrigan SK,Bartoloni L,Speer MC,Fulton N,Kravarusic J,Ramesar R,Vance JM,Yamaoka LH,Westbrook CA

更新日期：1999-04-01 00:00:00

abstract：:Central to reconstruction of cis-regulatory networks is identification and classification of naturally occurring transcription factor-binding sites according to the genes that they control. We have examined salient characteristics of 9-mers that occur in various orders and combinations in the proximal promoters of hum...

journal_title：Genomics

authors： Bina M,Wyss P,Ren W,Szpankowski W,Thomas E,Randhawa R,Reddy S,John PM,Pares-Matos EI,Stein A,Xu H,Lazarus SA

更新日期：2004-12-01 00:00:00

abstract：:Aldose reductase (alditol:NAD(P)+ 1-oxidoreductase; EC 1.1.1.21) (AR) catalyzes the reduction of several aldehydes, including that of glucose, to the corresponding sugar alcohol. Using a complementary DNA clone encoding human AR, we mapped the gene sequences to human chromosomes 1, 3, 7, 9, 11, 13, 14, and 18 by somat...

journal_title：Genomics

authors： Bateman JB,Kojis T,Heinzmann C,Klisak I,Diep A,Carper D,Nishimura C,Mohandas T,Sparkes RS

更新日期：1993-09-01 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：:A genome-wide view of sequence mutability in mice is still limited, although biologists usually assume the same scenario for mice as for humans. In this study, we examined the sequence context in the local environment of 482,528 mouse single nucleotide polymorphisms (SNPs). We found that CpG-containing short sequences...

journal_title：Genomics

authors： Zhao Z,Zhang F

更新日期：2006-01-01 00:00:00

abstract：:The human formylpeptide receptor (FPR) gene cluster has three members: FPR1 and FPRL1, which are expressed in neutrophils and monocytes and encode seven-transmembrane-domain chemotactic receptors specific for N-formylpeptides, and FPRL2, whose function is unknown. The FPRL1 receptor is also a lipoxin A4 receptor. Usin...

journal_title：Genomics

authors： Gao JL,Chen H,Filie JD,Kozak CA,Murphy PM

更新日期：1998-07-15 00:00:00

abstract：:Despite the increasing number of disorders known to result from trinucleotide repeat amplification, the molecular mechanism underlying these dynamic mutations is still unknown. In an attempt to create a mouse model for the CGG repeat instability seen in Fragile X syndrome, we constructed transgenes corresponding to FM...

journal_title：Genomics

authors： Lavedan C,Grabczyk E,Usdin K,Nussbaum RL

更新日期：1998-06-01 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：:To investigate the molecular mechanism of silkworm resistance to BmNPV infection, we constructed a near-isogenic line (BC8) with BmNPV resistance using highly resistant (NB) and highly susceptible parental strains (306). We investigated variations in the gene expression in the midguts of BmNPV-infected BC8 and 306 at ...

journal_title：Genomics

authors： Zhou Y,Gao L,Shi H,Xia H,Gao L,Lian C,Chen L,Yao Q,Chen K,Liu X

更新日期：2013-04-01 00:00:00

abstract：:Runs of homozygosity are common in European populations and are indicative of consanguinity, restricted population size and recessively inherited traits. Here, we map runs of homozygosity (ROHs) in an Irish case-control cohort for amyotrophic lateral sclerosis (ALS), a devastating neurological condition with high heri...

journal_title：Genomics

authors： McLaughlin RL,Kenna KP,Vajda A,Heverin M,Byrne S,Donaghy CG,Cronin S,Bradley DG,Hardiman O

更新日期：2015-04-01 00:00:00

abstract：:High liver iron content is a risk factor for developing hepatocellular carcinoma (HCC). However, HCC cells are always iron-poor. Therefore, an association between hepatocyte iron storage capacity and differentiation is suggested. To characterize biological processes involved in iron loading capacity, we used a cDNA mi...

journal_title：Genomics

authors： Troadec MB,Glaise D,Lamirault G,Le Cunff M,Guérin E,Le Meur N,Détivaud L,Zindy P,Leroyer P,Guisle I,Duval H,Gripon P,Théret N,Boudjema K,Guguen-Guillouzo C,Brissot P,Léger JJ,Loréal O

更新日期：2006-01-01 00:00:00

abstract：:Macrophage migration inhibitory factor (MIF) was originally identified as a lymphokine. However, recent work strongly suggests a wider role for MIF beyond the immune system. It is expressed specifically in the differentiating cells of the immunologically privileged eye lens and brain, is a delayed early response gene ...

journal_title：Genomics

authors： Paralkar V,Wistow G

更新日期：1994-01-01 00:00:00

abstract：:A monoclonal antibody, 170A1, which recognizes a nucleolar peptide of molecular weight 90,000, was raised. The protein was conserved among various vertebrates. To characterize the antigen, we screened a human fetal liver expression library using the monoclonal antibody as a probe. Molecular analyses of immunopositive ...

journal_title：Genomics

authors： Lee SG,Lee I,Park SH,Kang C,Song K

更新日期：1995-02-10 00:00:00

abstract：:Reassociating double-stranded DNA from single-stranded components is necessary for many molecular genetics experiments. The choice of a DNA reassociation method is dictated by the complexity of the starting material. Reassociation of simple oligomers needs only slow cooling in an aqueous environment, whereas reanneali...

journal_title：Genomics

authors： Bruzel A,Cheung VG

更新日期：2006-02-01 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