A large duplicated area in the polycystic kidney disease 1 (PKD1) region of chromosome 16 is prone to rearrangement.

abstract：:Point mutations in the factor VIII gene are responsible for the majority of cases of hemophilia A, and only a small fraction of these mutations can be recognized by restriction endonuclease analysis. We have now used polymerase chain reaction and denaturing gradient gel electrophoresis to characterize single nucleotid...

journal_title：Genomics

authors： Traystman MD,Higuchi M,Kasper CK,Antonarakis SE,Kazazian HH Jr

更新日期：1990-02-01 00:00:00

abstract：:Data from family studies demonstrating RH:MYCL linkage (zeta = 4.07 at theta = 0.09) in paternal meioses are presented. Although positive, MYCL:PGM1 lods are not of the magnitude of those for RH:MYCL. Taken together, these results are consistent with the physical assignment of MYCL to 1p32. Furthermore, evidence to su...

journal_title：Genomics

authors： Zelinski T,Verville G,White L,Hamerton JL,McAlpine PJ,Lewis M

更新日期：1988-02-01 00:00:00

abstract：:A population of chromosome segment substitution lines was developed using KDML105 as the recurrent parent and one of DH212 (IR68586-F2-CA-143) or DH103 (IR68586-F2-CA-31) as the donor parent. The donor parents are part of a doubled haploid population from a cross between CT9993, an upland japonica accession, and IR622...

journal_title：Genomics

authors： Shearman JR

更新日期：2019-10-31 00:00:00

abstract：:Eight genes located on the short arm of the human X chromosome (MAOA, SYN1, OAT, OTC, CYBB, DMD, ZFX, POLA) have been mapped in several marsupial species by cell hybrid analysis and/or in situ hybridization using probes derived from human cDNA. Seven appear to be autosomal in all marsupial species examined. The eighth...

journal_title：Genomics

authors： Spencer JA,Sinclair AH,Watson JM,Graves JA

更新日期：1991-10-01 00:00:00

abstract：:We describe an improved method for construction of yeast artificial-chromosome (YAC) libraries that contain large inserts of foreign DNA. The procedure consists of seven steps: (i) preparation of human DNA in agarose beads; (ii) partial digestion of the DNA with EcoRI; (iii) electrophoretic elimination of the smaller ...

journal_title：Genomics

authors： Imai T,Olson MV

更新日期：1990-10-01 00:00:00

abstract：:The chromosomal abnormality represented by an isodicentric X chromosome [idic(X)(q13)] is associated with a subset of acute myeloid leukemia (AML) and preleukemia observed in elderly females. A previous study localized the breakpoints of two acquired isodicentric X chromosomes associated with myelodysplasia to a 450-k...

journal_title：Genomics

authors： McDonell N,Ramser J,Francis F,Vinet MC,Rider S,Sudbrak R,Riesselman L,Yaspo ML,Reinhardt R,Monaco AP,Ross F,Kahn A,Kearney L,Buckle V,Chelly J

更新日期：2000-03-15 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：: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：: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：: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：:Immunoblotting of isoelectric focusing gels of plasma and direct genomic DNA sequencing have been used to characterize a mutation in apolipoprotein A-I associated with the familial amyloidotic polyneuropathy originally described by Van Allen in an Iowa kindred. An arginine for glycine substitution in apolipoprotein A-...

journal_title：Genomics

authors： Nichols WC,Gregg RE,Brewer HB Jr,Benson MD

更新日期：1990-10-01 00:00:00

abstract：:Estrogen receptor-like 1a (ESRL1a; same as estrogen receptor-related orphan receptors, ERR1) belongs to a subfamily of the nuclear receptor superfamily. We have previously shown that human ESRL1a modulates estrogen responsiveness of the lactoferrin gene promoter in transiently transfected endometrial carcinoma RL95-2 ...

journal_title：Genomics

authors： Shi H,Shigeta H,Yang N,Fu K,O'Brian G,Teng CT

更新日期：1997-08-15 00:00:00

abstract：:LBR (lamin B receptor) is an integral protein of the inner nuclear membrane encoded by a gene on human chromosome 1q42.1. LBR has a nucleoplasmic, amino-terminal domain of approximately 200 amino acids followed by a carboxyl-terminal domain similar in sequence to yeast and plant sterol reductases. We have determined t...

journal_title：Genomics

authors： Holmer L,Pezhman A,Worman HJ

更新日期：1998-12-15 00:00:00

abstract：:Single nucleotide polymorphism (SNP) interactions can explain the missing heritability of common complex diseases. Many interaction detection methods have been proposed in genome-wide association studies, and they can be divided into two types: population-based and family-based. Compared with population-based methods,...

journal_title：Genomics

authors： Liu J,Yu G,Ren Y,Guo M,Wang J

更新日期：2019-09-01 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

abstract：:We examined the allele and haplotype frequencies of five polymorphic DNA markers in 355 European cystic fibrosis (CF) patients (from Belgium, the German Democratic Republic, Greece, and Italy) who were divided into two groups according to whether they were or not taking supplementary pancreatic enzymes. The level of l...

journal_title：Genomics

authors： Devoto M,De Benedetti L,Seia M,Piceni Sereni L,Ferrari M,Bonduelle ML,Malfroot A,Lissens W,Balassopoulou A,Adam G

更新日期：1989-11-01 00:00:00

abstract：:Talin is a high-molecular-weight cytoskeletal protein, localized at cell-extracellular matrix associations known as focal contacts. In these regions, talin is thought to link integrin receptors to the actin cytoskeleton. Talin plays a key role in the assembly of actin filaments and in spreading and migration of variou...

journal_title：Genomics

authors： Ben-Yosef T,Francomano CA

更新日期：1999-12-01 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：: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：:The sensing of extracellular calcium is a general paradigm for regulating diverse cellular functions in many tissues. A calcium-sensing receptor (Casr) belonging to the metabotropic glutamate family of G-protein-coupled receptors (GPCR) that transduces the effects of extracellular calcium in the parathyroid gland as w...

journal_title：Genomics

authors： Hinson TK,Damodaran TV,Chen J,Zhang X,Qumsiyeh MB,Seldin MF,Quarles LD

更新日期：1997-10-15 00:00:00

abstract：:Protein sequences were compared among Arabidopsis, Oryza and Populus to identify differential gene (DG) sets that are in one but not the other two genomes. The DG sets were screened against a plant transcript database, the NR protein database and six newly-sequenced genomes (Carica, Glycine, Medicago, Sorghum, Vitis a...

journal_title：Genomics

authors： Yang X,Jawdy S,Tschaplinski TJ,Tuskan GA

更新日期：2009-05-01 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：OBJECTIVE:Cytokines strongly induce expression of the inducible nitric oxide synthase (iNOS) in rodent but not in human endothelial cells. We recently identified NOS2 as a potential target of the histone methyltransferase enhancer of zeste homolog 2 which mediates trimethylation of histone 3 at lysine 27 (H3K27me3). M...

journal_title：Genomics

authors： Dreger H,Ludwig A,Weller A,Baumann G,Stangl V,Stangl K

更新日期：2016-04-01 00:00:00

abstract：:Complete or partial monosomy 7 is a recurring cytogenetic abnormality in acute myelogenous leukemia (AML) and myeloproliferative syndromes (MPS) and is particularly common in patients with Fanconi's anemia and in secondary AML. A familial form of monosomy 7 has been recognized in which two or more siblings develop MPS...

journal_title：Genomics

authors： Shannon KM,Turhan AG,Rogers PC,Kan YW

更新日期：1992-09-01 00:00:00

abstract：:The procollagen C-proteinase enhancer (PCPE) is a glycoprotein that potentiates enzymatic cleavage of the type I procollagen C-propeptide by bone morphogenetic protein-1 (BMP-1). The human PCPE gene (PCOLCE) was previously mapped to 7q22, an area frequently disrupted in uterine leiomyomata, while disruption of the rat...

journal_title：Genomics

authors： Scott IC,Clark TG,Takahara K,Hoffman GG,Greenspan DS

更新日期：1999-01-15 00:00:00

abstract：:Retinitis pigmentosa (RP) is a heterogeneous genetic disorder with autosomal dominant, autosomal recessive, and X-linked forms. We previously mapped an additional arRP locus to chromosome 6p21 (RP14) in a single extended kinship from the Dominican Republic. Aided by a second linked RP pedigree from the same region of ...

journal_title：Genomics

authors： Banerjee P,Lewis CA,Kleyn PW,Shugart YY,Ross BM,Penchaszadeh GK,Ott J,Jacobson SG,Gilliam TC,Knowles JA

更新日期：1998-03-01 00:00:00

abstract：:The gene encoding human carboxyl ester lipase (CEL), including 1628 bp of the 5'-flanking region, has been isolated and characterized from two overlapping lambda phage clones. The gene spans 9832 bp and contains 11 exons interrupted by 10 introns. The exons range in size from 88 to 204 bp, except for the last exon, wh...

journal_title：Genomics

authors： Lidberg U,Nilsson J,Strömberg K,Stenman G,Sahlin P,Enerbäck S,Bjursell G

更新日期：1992-07-01 00:00:00

abstract：:The solute carrier family 22 (SLC22) is a large family of organic cation and anion transporters. These are transmembrane proteins expressed predominantly in kidneys and liver and mediate the uptake and excretion of environmental toxins, endogenous substances, and drugs from the body. Through a comprehensive database s...

journal_title：Genomics

authors： Jacobsson JA,Haitina T,Lindblom J,Fredriksson R

更新日期：2007-11-01 00:00:00

abstract：:The human body harbors numerous microbes, and here exists a close relationship between microbes and human health. The Human Microbiome Project has generated whole genome sequences of several hundred human microbes. In this study, we identified horizontal gene transfer (HGT) events in human microbes and tried to elucid...

journal_title：Genomics

authors： Liu L,Chen X,Skogerbø G,Zhang P,Chen R,He S,Huang DW

更新日期：2012-11-01 00:00:00

abstract：:Most members of the large family of rhodopsin-like G-protein-coupled receptors possess an evolutionarily conserved Asp-Arg-Tyr (DRY) motif in the C-terminal region of the third transmembrane domain. Mutations of residues within this motif usually abolish receptor function and, when they occur naturally, can even cause...

journal_title：Genomics

authors： Römpler H,Yu HT,Arnold A,Orth A,Schöneberg T

更新日期：2006-06-01 00:00:00