TrioMDR: Detecting SNP interactions in trio families with model-based multifactor dimensionality reduction.

abstract：:The gene for familial chondrocalcinosis (MIM 118600; gene symbol CCAL2) has been localized to a 0.8-cM interval on the short arm of chromosome 5, between the polymorphic microsatellite markers D5S416 and D5S2114. We have undertaken the physical and transcript mapping of this interval, as well as regions telomeric to t...

journal_title：Genomics

authors： Rojas K,Serrano de la Peña L,Gallardo T,Simmons A,Nyce K,McGrath R,Considine E,Vasko AJ,Peterson E,Grady D,Cox R,Andrew LJ,Lovett M,Overhauser J,Williams CJ

更新日期：1999-12-01 00:00:00

abstract：:Fibulin-2 is a new extracellular matrix protein that we recently identified by characterizing mouse cDNA clones. Fibulin-2 mRNA is prominently expressed in mouse heart tissue and is present in low amounts in other tissues. In this study, we isolated and sequenced a 4.1-kb human fibulin-2 cDNA, which encoded a mature p...

journal_title：Genomics

authors： Zhang RZ,Pan TC,Zhang ZY,Mattei MG,Timpl R,Chu ML

更新日期：1994-07-15 00:00:00

abstract：:The behaviors of autism overlap with a diverse array of other neurological disorders, suggesting common molecular mechanisms. We conducted a large comparative analysis of the network of genes linked to autism with those of 432 other neurological diseases to circumscribe a multi-disorder subcomponent of autism. We leve...

journal_title：Genomics

authors： Wall DP,Esteban FJ,Deluca TF,Huyck M,Monaghan T,Velez de Mendizabal N,Goñí J,Kohane IS

更新日期：2009-02-01 00:00:00

abstract：:Comparative genetic analysis between human and chimpanzee may detect genetic divergences responsible for human-specific characteristics. Previous studies have identified a series of genes that potentially underwent Darwinian positive selection during human evolution. However, without a closely related species as outgr...

journal_title：Genomics

authors： Yu XJ,Zheng HK,Wang J,Wang W,Su B

更新日期：2006-12-01 00:00:00

abstract：:Specific probes derived from the human genes that complement the mutations of two independent temperature-sensitive (ts) mutants of the BHK-21 hamster cell line were used to determine the chromosomal locations of the loci in the human genome. The ts11 gene, which complements a mutation that blocks progression through ...

journal_title：Genomics

authors： Greco A,Ittmann M,Barletta C,Basilico C,Croce CM,Cannizzaro LA,Huebner K

更新日期：1989-04-01 00:00:00

abstract：:Indolethylamine N-methyltransferase (INMT) catalyzes the N-methylation of tryptamine and structurally related compounds. We recently cloned and characterized the rabbit INMT cDNA and gene as a step toward cloning the cDNA and gene for this enzyme in humans. We have now used a PCR-based approach to clone a human INMT c...

journal_title：Genomics

authors： Thompson MA,Moon E,Kim UJ,Xu J,Siciliano MJ,Weinshilboum RM

更新日期：1999-11-01 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

abstract：:A human corneal fibroblast cDNA library was screened with a bovine lumican cDNA probe to obtain three clones. Sequencing of the longest clone (1.75 kb) yielded an open reading frame of 1014 bp coding for a 338-amino-acid core protein. Amino acid sequencing of a tryptic peptide resulted in a 9-amino-acid match with the...

journal_title：Genomics

authors： Chakravarti S,Stallings RL,SundarRaj N,Cornuet PK,Hassell JR

更新日期：1995-06-10 00:00:00

abstract：:Imprinting is an epigenetic modification that is reprogrammed in the germ line and leads to the monoallelic expression of some genes. Imprinting involves DNA methylation. Maternal imprint is reset during oocyte growth and maturation. In vitro maturation (IVM) of oocytes may, therefore, interfere with imprint acquisiti...

journal_title：Genomics

authors： Borghol N,Lornage J,Blachère T,Sophie Garret A,Lefèvre A

更新日期：2006-03-01 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：:CancerEnD is an integrated resource developed for annotating 8524 unique expressed enhancers, associated genes, somatic mutations and copy number variations of 8063 cancer samples from 18 cancer types of TCGA. Somatic mutation data was taken from the COSMIC repository. To delineate the relationship of change in copy n...

journal_title：Genomics

authors： Kumar R,Lathwal A,Kumar V,Patiyal S,Raghav PK,Raghava GPS

更新日期：2020-09-01 00:00:00

abstract：:Large deletions in Xq21 often are associated with contiguous gene syndromes consisting of X-linked deafness type 3 (DFN3), mental retardation (MRX), and choroideremia (CHM). The identification of deletions associated with classic CHM or DFN3 facilitated the positional cloning of the underlying genes, REP-1 and POU3F4,...

journal_title：Genomics

authors： Yntema HG,van den Helm B,Kissing J,van Duijnhoven G,Poppelaars F,Chelly J,Moraine C,Fryns JP,Hamel BC,Heilbronner H,Pander HJ,Brunner HG,Ropers HH,Cremers FP,van Bokhoven H

更新日期：1999-12-15 00:00:00

abstract：:Based on its map position, polymorphism pattern, and expression in the kidney, the gene encoding liver 20,000-30,000 MW protein 4 (LTW4) can be considered a potential candidate for the Jckm2 modifying locus, which mediates the severity of polycystic kidney disease in the juvenile cystic kidney mouse. Using two-dimensi...

journal_title：Genomics

authors： Iakoubova OA,Pacella LA,Her H,Beier DR

更新日期：1997-06-15 00:00:00

abstract：:Our previous genetic map for chromosome 17 has been expanded to include 72 loci defined by 90 RFLP markers and four microsatellite markers assayed by the polymerase chain reaction. Forty-one of these loci were ordered with odds greater than 1000:1 against local inversion, and the other 31 were ordered within 95% confi...

journal_title：Genomics

authors： O'Connell P,Plaetke R,Matsunami N,Odelberg S,Jorde L,Chance P,Leppert M,Lalouel JM,White R

更新日期：1993-01-01 00:00:00

abstract：:DNA N6-methyladenine (6 mA) is an epigenetic modification that plays a vital role in a variety of cellular processes in both eukaryotes and prokaryotes. Accurate information of 6 mA sites in the Rosaceae genome may assist in understanding genomic 6 mA distributions and various biological functions such as epigenetic i...

journal_title：Genomics

authors： Khanal J,Lim DY,Tayara H,Chong KT

更新日期：2020-10-01 00:00:00

abstract：:The single functional mouse gene for MIF (macrophage migration inhibitory factor) has been cloned from a P1 library, and its exon/intron structure determined and shown to resemble that of the human gene. The gene was mapped to chromosome 10 using two multilocus crosses between laboratory strains and either Mus musculu...

journal_title：Genomics

authors： Kozak CA,Adamson MC,Buckler CE,Segovia L,Paralkar V,Wistow G

更新日期：1995-06-10 00:00:00

abstract：:The use of short tandem repeat polymorphisms (STRPs) as marker loci for linkage analysis is becoming increasingly important due to their large numbers in the human genome and their high degree of polymorphism. Fluorescence-based detection of the STRP pattern with an automated DNA sequencer has improved the efficiency ...

journal_title：Genomics

authors： Oetting WS,Lee HK,Flanders DJ,Wiesner GL,Sellers TA,King RA

更新日期：1995-12-10 00:00:00

abstract：:Rhodopsin kinase (RK) is a conserved component of the light adaptation and recovery pathways shared among rod and cone photoreceptors of a variety of species. To gain insight into transcriptional mechanisms driving RK and potentially other genes of similar spatial profile, the components and the interactions of the hi...

journal_title：Genomics

authors： Young JE,Kasperek EM,Vogt TM,Lis A,Khani SC

更新日期：2007-08-01 00:00:00

abstract：:To investigate the association between SNPs in human IGF2/H19 gene locus and epithelial ovarian cancer (EOC) risk, we performed a case-control study in 422 individuals (219 EOC patients and 203 cancer-free controls). Four SNPs (rs2525885, rs2839698, rs3741206, rs3741219) were found to be related with EOC risk. Specifi...

journal_title：Genomics

authors： Zhang HB,Zeng Y,Li TL,Wang G

更新日期：2020-05-01 00:00:00

abstract：:RNA helicase A is an enzyme that possesses both RNA and DNA helicase activities. In this report, we describe the isolation of a mouse cDNA encoding RNA helicase A. The deduced amino acid sequence derived from mouse RNA helicase A cDNA exhibits 87 and 47% identity to its human and Drosophila homologs, respectively. Usi...

journal_title：Genomics

authors： Lee CG,Eki T,Okumura K,da Costa Soares V,Hurwitz J

更新日期：1998-02-01 00:00:00

abstract：:4-Hydroxyphenylpyruvic acid dioxygenase (HPD) is an important enzyme in tyrosine catabolism in most organisms. The activity of this enzyme is expressed mainly in the liver and developmentally regulated in mammals, and a genetic deficiency in this enzyme in humans and mice leads to hereditary tyrosinemia type 3. Using ...

journal_title：Genomics

authors： Awata H,Endo F,Matsuda I

更新日期：1994-10-01 00:00:00

abstract：:This paper describes the Centre d'Etude du Polymorphisme Humain (CEPH) consortium linkage map of chromosome 9. A total of 124 markers were typed in the CEPH family DNAs by 14 contributing laboratories; of these, 42 loci are ordered on the map with likelihood support of at least 1000:1. The uniquely placed markers incl...

journal_title：Genomics

authors： Attwood J,Chiano M,Collins A,Donis-Keller H,Dracopoli N,Fountain J,Falk C,Goudie D,Gusella J,Haines J

更新日期：1994-01-15 00:00:00

abstract：:To facilitate studies of the SRY gene, a 4741-bp portion of the sex-determining region of the human Y chromosome was sequenced and characterized. Two RNAs were found to hybridize to this genomic segment, one transcript deriving from SRY and the second cross-hybridizing to a pseudogene located 2.5 kb 5' of the SRY open...

journal_title：Genomics

authors： Behlke MA,Bogan JS,Beer-Romero P,Page DC

更新日期：1993-09-01 00:00:00

abstract：:A fluorescence in situ hybridization (FISH) physical map of 14 polymorphic loci on chromosome 10 covers over 62% of the fractional length of chromosome 10. The positions of three previously mapped loci are confirmed, nine more are refined, and two new loci are cytogenetically mapped. The order of loci determined by FI...

journal_title：Genomics

authors： Lichter JB,Difilippantonio MJ,Pakstis AJ,Goodfellow PJ,Ward DC,Kidd KK

更新日期：1993-05-01 00:00:00

abstract：:Most teleosts undergo a thyroid hormone (TH) regulated larval to juvenile transition known as metamorphosis. In Pleuronectiformes (flatfish), metamorphosis is most dramatic, and one eye of the symmetric pelagic larvae migrates to the opposite side of the head, giving rise to an asymmetric benthic juvenile with both ey...

journal_title：Genomics

authors： Louro B,Marques JP,Manchado M,Power DM,Campinho MA

更新日期：2020-01-01 00:00:00

abstract：:Thirteen moderately to highly informative microsatellite DNA polymorphisms based on (dC-dA)n.(dG-dT)n repeats were mapped to segments of human chromosome 5 using both linkage analysis and a panel of somatic cell hybrids which contained rearranged chromosomes. The markers were distributed throughout most of the length ...

journal_title：Genomics

authors： Weber JL,Polymeropoulos MH,May PE,Kwitek AE,Xiao H,McPherson JD,Wasmuth JJ

更新日期：1991-11-01 00:00:00

abstract：:Equine Cerebellar Abiotrophy (CA) is a neurological disease found in Arabian horses. CA is characterized by post-natal degeneration of the Purkinje cells of the cerebellum. Signs of CA include ataxia, head tremors, and a lack of balance equilibrium. We have discovered a linkage of the CA phenotype to a microsatellite ...

journal_title：Genomics

authors： Brault LS,Cooper CA,Famula TR,Murray JD,Penedo MC

更新日期：2011-02-01 00:00:00

abstract：:In Macaca mulatta, the single rDNA array is flanked by a patchwork of sequences including subregions of human Yp11.2, 4q35.2, and 10p15.3. This composite DNA region is characterized by unique or low-copy sequences, resembling a potentially transcribed region. The analysis of Cercopithecus aethiops, Presbytis cristata,...

journal_title：Genomics

authors： Bodega B,Cardone MF,Rocchi M,Meneveri R,Marozzi A,Ginelli E

更新日期：2006-11-01 00:00:00

abstract：:The inheritance of obesity has been analyzed in an intercross between the lean 129/Sv mouse strain and the obesity-prone EL/Suz mouse strain. The weights of three major fat pads were determined on 4-month-old mice, and the sum of these weights, divided by body weight, was used as an adiposity index. The strategy of se...

journal_title：Genomics

authors： Taylor BA,Phillips SJ

更新日期：1996-06-15 00:00:00

abstract：:We have isolated cDNA clones that code for human cytochrome b5. Owing to the high degree of evolutionary conservation of cytochrome b5 sequences and the existence of human and rodent cytochrome b5 processed pseudogenes, we were unable to map unambiguously the chromosomal localization of the human gene(s) by Southern b...

journal_title：Genomics

authors： Shephard EA,Povey S,Spurr NK,Phillips IR

更新日期：1991-10-01 00:00:00