A microdeletion of D6S305 in a family of autosomal recessive juvenile parkinsonism (PARK2).

abstract：:A number of murine cataract mutations have been localized to chromosome 1 close to the gamma-crystallin gene cluster (Cryg) (Everett et al., 1994, Genomics 20: 429-434; Löster et al., 1994, Genomics 23: 240-242). Based on the size of the mapping or allelism tests they have not been shown to be genetically distinct and...

journal_title：Genomics

authors： Klopp N,Favor J,Löster J,Lutz RB,Neuhäuser-Klaus A,Prescott A,Pretsch W,Quinlan RA,Sandilands A,Vrensen GF,Graw J

更新日期：1998-09-01 00:00:00

abstract：:A simple and rapid strategy for restriction mapping based on sequence-specific triple-helix affinity capture (TAC) was developed. The strategy was applied to the analysis of cosmid clones by the construction of a new cosmid vector, ScosTriplex-II, containing two different triple-helix-forming sequences flanking the cl...

journal_title：Genomics

authors： Ji H,Francisco T,Smith LM,Guilfoyle RA

更新日期：1996-01-15 00:00:00

abstract：:Mutations in the mouse dreher (dr) gene cause skeletal defects, hyperactivity, abnormal gait, deafness, white belly spotting, and hypoplasia of Müllerian duct derivatives. To map dr to high resolution, we utilized two crosses. Initially, we analyzed an intersubspecific intercross to construct a detailed genetic map of...

journal_title：Genomics

authors： Bergstrom DE,Gagnon LH,Eicher EM

更新日期：1999-08-01 00:00:00

abstract：:Interspersed repetitive sequence (IRS) PCR and repetitive element-to-bubble (IRS-bubble) PCR have been utilized to rapidly generate large numbers of mouse-specific, chromosome 1-enriched STSs from mouse-hamster somatic cell hybrids. Single-strand conformational polymorphism (SSCP) has been used to localize 39 new repe...

journal_title：Genomics

authors： Hunter KW,Watson ML,Rochelle J,Ontiveros S,Munroe D,Seldin MF,Housman DE

更新日期：1993-12-01 00:00:00

abstract：:Aberrant DNA methylation is induced at specific promoter CpG islands (CGIs) in contrast with mutations. The specificity is influenced by genome architecture and epigenetic factors, but their relationship is still unknown. In this study, we isolated promoter CGIs susceptible and resistant to aberrant methylation induct...

journal_title：Genomics

authors： Takeshima H,Yamashita S,Shimazu T,Ushijima T

更新日期：2011-09-01 00:00:00

abstract：:The gene encoding activation-induced cytidine deaminase (AID), a member of the cytidine deaminase family, was isolated from a murine B cell lymphoma line, CH12F3-2, induced by combined stimulation of TGF-beta, IL-4, and CD40L. We have isolated the human orthologue of mouse AID cDNA, which has an open reading frame of ...

journal_title：Genomics

authors： Muto T,Muramatsu M,Taniwaki M,Kinoshita K,Honjo T

更新日期：2000-08-15 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：:The gene for prosaposin was characterized by sequence analysis of chromosomal DNA to gain insight into the evolution of this locus that encodes four highly conserved sphingolipid activator proteins or saposins. The 13 exons ranged in size from 57 to 1200 bp, while the introns were from 91 to 3812 bp in length. The reg...

journal_title：Genomics

authors： Rorman EG,Scheinker V,Grabowski GA

更新日期：1992-06-01 00:00:00

abstract：:The role of hyaluronan in cardiac growth has become evident, previously shown by increased myocardial levels of hyaluronan in a rat model of cardiac hypertrophy. To further investigate the role of hyaluronan and regulation of its synthesis in cardiac hypertrophy, quantitative measurements of myocardial hyaluronan conc...

journal_title：Genomics

authors： Hellman U,Mörner S,Engström-Laurent A,Samuel JL,Waldenström A

更新日期：2010-08-01 00:00:00

abstract：:We report monozygotic twin girls with syndromic intellectual disability who underwent exome sequencing but with negative pathogenic variants. To search for variants that are unrecognized by exome sequencing, high-fidelity long-read genome sequencing (HiFi LR-GS) was applied. A 12-kb copy-neutral inversion was precisel...

journal_title：Genomics

authors： Mizuguchi T,Okamoto N,Yanagihara K,Miyatake S,Uchiyama Y,Tsuchida N,Hamanaka K,Fujita A,Miyake N,Matsumoto N

更新日期：2020-11-04 00:00:00

abstract：:Four highly conserved members of the skeletal protein 4.1 gene family encode a diverse array of protein isoforms via tissue-specific transcription and developmentally regulated alternative pre-mRNA splicing. In addition to the prototypical red blood cell 4.1R (human gene symbol EPB41,) these include two homologues tha...

journal_title：Genomics

authors： Peters LL,Weier HU,Walensky LD,Snyder SH,Parra M,Mohandas N,Conboy JG

更新日期：1998-12-01 00:00:00

abstract：:Mcm proteins perform functions related to the regulation of eukaryotic genome replication. Previous work has shown that human cells contain at least five different Mcm proteins. We report now the amino acid sequence of an additional human Mcm protein, p105Mcm, and show that it is homologous to the Schizosaccharomyces ...

journal_title：Genomics

authors： Holthoff HP,Hameister H,Knippers R

更新日期：1996-10-01 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：:Kinesins are a large superfamily of microtubule motors that mediate specific motile processes. In a previous study, we identified 11 kinesin family members in the retina and retinal pigment epithelium (RPE) of the striped bass, Morone saxatilus. We have now identified, cloned, and sequenced the human homologue (KIFC3)...

journal_title：Genomics

authors： Hoang EH,Whitehead JL,Dosé AC,Burnside B

更新日期：1998-09-01 00:00:00

abstract：:A recessive mutation in the mouse, situs inversus viscerum (iv), results in randomization of organ position along the left-right body axis: approximately 50% of the progeny of homozygous matings exhibit situs solitus and 50% exhibit situs inversus. Recent studies have established genetic linkage between iv and the imm...

journal_title：Genomics

authors： McGrath J,Horwich AL,Brueckner M

更新日期：1992-11-01 00:00:00

abstract：:Through an exhaustive homology-based approach, coupled with manual efforts, we annotated and characterized 128 sensory neuron membrane proteins (SNMPs) from genomes and transcriptomes of 22 coleopteran species, with 107 novel candidates. Remarkably, we discovered, for the first time, a novel SNMP group, defined as Gro...

journal_title：Genomics

authors： Zhao YJ,Li GC,Zhu JY,Liu NY

更新日期：2020-07-01 00:00:00

abstract：:The sequence of 20,114 bp of DNA including the human glucose-6-phosphate dehydrogenase (G6PD) gene was determined. The region included a prominent CpG island, starting about 680 nucleotides upstream of the transcription start site, extending about 1050 nucleotides downstream of the start site, and ending just at the s...

journal_title：Genomics

authors： Chen EY,Cheng A,Lee A,Kuang WJ,Hillier L,Green P,Schlessinger D,Ciccodicola A,D'Urso M

更新日期：1991-07-01 00:00:00

abstract：:Calcyclin is a member of the S100 family of proteins, many of which are encoded by genes that have been localized to the proximal long arm of human chromosome 1 (bands q21-q22). A 450-kb yeast artificial chromosome clone containing the human calcyclin gene was identified by PCR screening and used as a probe for fluore...

journal_title：Genomics

authors： Hardas BD,Zhang J,Trent JM,Elder JT

更新日期：1994-05-15 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：: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：:Neuroendocrine-Dlg (NE-Dlg) is a member of the discs-large-related (DLG) subfamily of the membrane-associated guanylate kinase-related protein family. Based on evidence from model systems, this protein appears to be critical for synaptogenesis, acting as a site-specific organizational center for integral membrane prot...

journal_title：Genomics

authors： Stathakis DG,Lee D,Bryant PJ

更新日期：1998-04-15 00:00:00

abstract：:This communication describes a software tool that enables one to simulate large-scale regional mapping using an ordered shotgun sequencing approach. The analysis routines that are provided yield an estimate of the depth of coverage of the physical map, the largest contig formed, and the number of gaps remaining at any...

journal_title：Genomics

authors： Singh GB,Krawetz SA

更新日期：1995-01-20 00:00:00

abstract：:RFX1 is a transacting DNA-binding regulatory factor involved in the control of MHC class II gene expression. RFX2 is a structurally very similar protein with identical DNA binding features. A member of the family of RFX factors is affected in an autosomal recessive disease, MHC class II deficient combined immunodefici...

journal_title：Genomics

authors： Pugliatti L,Derré J,Berger R,Ucla C,Reith W,Mach B

更新日期：1992-08-01 00:00:00

abstract：:A somatic cell hybrid panel, consisting of 25 cell lines, has been developed to localize loci subregionally on chromosome 22. Over 300 markers in the form of STSs or hybridization probes have been assigned to one of 24 unique regions or "bins" using this panel. This ordered collection of markers will aid in the assemb...

journal_title：Genomics

authors： Budarf ML,Eckman B,Michaud D,McDonald T,Gavigan S,Buetow KH,Tatsumura Y,Liu Z,Hilliard C,Driscoll D,Goldmuntz E,Meese E,Zwarthoff EC,Williams S,McDermid H,Dumanski JP,Biegel J,Bell CJ,Emanuel BS

更新日期：1996-07-15 00:00:00

abstract：:The pattern of linkage disequilibrium between a disease locus and a set of marker loci has been shown to be a useful tool for geneticists searching for disease genes. Several methods have been advanced to utilize the pairwise disequilibrium between the disease locus and each of a set of marker loci. However, none of t...

journal_title：Genomics

authors： Devlin B,Risch N,Roeder K

更新日期：1996-08-15 00:00:00

abstract：:Most parasitic flatworms go through different life stages with important physiological and morphological changes. In this work, we used a transcriptomic approach to analyze the main life-stages of the model tapeworm Hymenolepis microstoma (eggs, cysticercoids, and adults). Our results showed massive transcriptomic cha...

journal_title：Genomics

authors： Preza M,Calvelo J,Langleib M,Hoffmann F,Castillo E,Koziol U,Iriarte A

更新日期：2021-01-21 00:00:00

abstract：:Using antibodies directed against the amino-terminus of dystrophin, we identified a truncated protein in a Duchenne muscular dystrophy patient. Antibodies directed against the carboxy-terminus failed to identify any cross-reactive material, a result consistent with premature termination of dystrophin translation. The ...

journal_title：Genomics

authors： Bulman DE,Gangopadhyay SB,Bebchuck KG,Worton RG,Ray PN

更新日期：1991-06-01 00:00:00

abstract：:In humans, uridine 5'-diphosphate glucuronosyltransferase (UGT) operates in opposition to glucuronidase (GUS) to control activity of diverse metabolites such as hormones by reversible conjugation with glucuronic acid. Previous data revealed that, as in mammals, these enzymes are required for plant life in that a UGT f...

journal_title：Genomics

authors： Woo HH,Jeong BR,Hirsch AM,Hawes MC

更新日期：2007-07-01 00:00:00

abstract：:Palmitoyl-protein thioesterase (PPT) is a small glycoprotein that removes palmitate groups from cysteine residues in lipid-modified proteins. We recently reported mutations in PPT in patients with infantile neuronal ceroid lipofuscinosis (INCL), a severe neurodegenerative disorder (J. Vesa et al., 1995, Nature 376: 58...

journal_title：Genomics

authors： Schriner JE,Yi W,Hofmann SL

更新日期：1996-06-15 00:00:00

abstract：:Low-molecular-weight, calcium-dependent phospholipase A2 genes (PLA2s) that belong to the secreted type of PLA2s are clustered within a syntenic group on human 1p35-p36 and mouse 4qD3. We reassembled trace files available from the Whole Genome Sequencing (WGS) Project, obtaining an 86-kb contig with three tandem PLA2G...

journal_title：Genomics

authors： Golik M,Cohen-Zinder M,Loor JJ,Drackley JK,Band MR,Lewin HA,Weller JI,Ron M,Seroussi E

更新日期：2006-04-01 00:00:00