Single-nucleotide polymorphism alleles in the insulin receptor gene are associated with typical migraine.

abstract：:Haemophilia is an X-linked genetic disorder in which A and B types are the most common that occur due to absence or lack of protein factors VIII and IX, respectively. Severity of the disease depends on mutation. Available Machine Learning (ML) methods that predict the mutational severity by using traditional encoding ...

journal_title：Genomics

authors： Singh VK,Maurya NS,Mani A,Yadav RS

更新日期：2020-11-01 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：:The chromosomal band 17p11.2 is associated with a number of neurological disorders and malignant diseases. This region is also characterized by the presence of complex repeat elements that are probably responsible for the frequent occurrence of interstitial deletions, duplications, and isochromosome formation. In the ...

journal_title：Genomics

authors： Seranski P,Heiss NS,Dhorne-Pollet S,Radelof U,Korn B,Hennig S,Backes E,Schmidt S,Wiemann S,Schwarz CE,Lehrach H,Poustka A

更新日期：1999-02-15 00:00:00

abstract：:Human chromosome 11 harbors many genes of medical significance and cancer-related rearrangements. The availability of cloned DNA in cosmids and in yeast artificial chromosomes (YACs), combined with fluorescence in situ hybridization analysis, has led to the cloning of genes at sites of chromosomal breakpoints in acute...

journal_title：Genomics

authors： Selleri L,Giovannini M,Hermanson GG,Romo A,Quackenbush J,Penny L,Khristich JV,Evans GA

更新日期：1994-07-01 00:00:00

abstract：:A dense gene-based SNP map was constructed across a 360-kb region containing the interleukin-1 gene cluster (IL1A, IL1B, and IL1RN), focusing on IL1RN. In total, 95 polymorphisms were confirmed or identified primarily by direct sequencing. Polymorphisms were precisely mapped to completed BAC and genomic sequences span...

journal_title：Genomics

authors： Bensen JT,Langefeld CD,Hawkins GA,Green LE,Mychaleckyj JC,Brewer CS,Kiger DS,Binford SM,Colicigno CJ,Allred DC,Freedman BI,Bowden DW

更新日期：2003-08-01 00:00:00

abstract：:The vast majority of small-deletion syndromes are caused by haploinsufficiency of one or several genes and are transmitted as dominant traits. We have previously identified a homozygous deletion of 179,311 bp on chromosome 2p21 as the cause of a unique syndrome, inherited in a recessive mode, consisting of cystinuria,...

journal_title：Genomics

authors： Parvari R,Gonen Y,Alshafee I,Buriakovsky S,Regev K,Hershkovitz E

更新日期：2005-08-01 00:00:00

abstract：:GPC3, the gene modified in the Simpson-Golabi-Behmel gigantism/overgrowth syndrome (SGBS), is shown to span more than 500 kb of genomic sequence, with the transcript beginning 197 bp 5' of the translational start site. The Xq26.1 region containing GPC3 as the only known gene has been extended to > 900 kb by sequence a...

journal_title：Genomics

authors： Huber R,Crisponi L,Mazzarella R,Chen CN,Su Y,Shizuya H,Chen EY,Cao A,Pilia G

更新日期：1997-10-01 00:00:00

abstract：:Linkage analysis with DNA probes C11P11 and pi 227 is reported in six Scottish families with familial adenomatous polyposis. Two families were informative for C11P11 and all six were at least partly informative for pi 227. Two C11P11-apc and two pi 227-apc recombinants were identified and one of these was recombinant ...

journal_title：Genomics

authors： Dunlop MG,Steel CM,Wyllie AH,Bird CC,Evans HJ

更新日期：1989-08-01 00:00:00

abstract：:A complete physical map of the DNA of an organism, consisting of overlapping clones spanning the genome, is an extremely useful tool for genomic analysis. Various methods for the construction of such physical maps are available. One approach is to assemble the physical map by "fingerprinting" a large number of random ...

journal_title：Genomics

authors： Arratia R,Lander ES,Tavaré S,Waterman MS

更新日期：1991-12-01 00:00:00

abstract：:The human chromosomal growth hormone locus contained on cloned DNA and spanning approximately 66,500 bp was sequenced in its entirety to provide a framework for the analysis of its biology and evolution. This locus evolved by a series of duplications and contains in its present form five genes which display a remarkab...

journal_title：Genomics

authors： Chen EY,Liao YC,Smith DH,Barrera-Saldaña HA,Gelinas RE,Seeburg PH

更新日期：1989-05-01 00:00:00

abstract：:During the course of systematic sequence tag analysis of clones isolated from an adult testis cDNA library, clones 296 and 576 were found to detect 71-74% sequence identity to the guinea pig sperm surface protein PH-20. This surface protein is involved in sperm-egg adhesion in the guinea pig. Nucleotide sequence for 1...

journal_title：Genomics

authors： Jones MH,Davey PM,Aplin H,Affara NA

更新日期：1995-10-10 00:00:00

abstract：:Alternative splicing is an important mechanism mediating the function of genes in multicellular organisms. Recently, we discovered a new splicing-junction wobble mechanism that generates subtle alterations in mRNA by randomly selecting tandem 5' and 3' splicing-junction sites. Here we developed a sensitive approach to...

journal_title：Genomics

authors： Tsai KW,Lin WC

更新日期：2006-12-01 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：:Spt3 is a Saccharomyces cerevisiae transcription factor that is required in vivo for the transcription of a number of RNA polymerase II-transcribed genes. We report the cloning of the gene encoding the human homologue of Spt3, SUPT3H, and its initial functional analysis. The human and yeast Spt3 homologues share an ov...

journal_title：Genomics

authors： Yu J,Madison JM,Mundlos S,Winston F,Olsen BR

更新日期：1998-10-01 00:00:00

abstract：:The avian embryo develops within a specialized biological container (eggshell) that contains crucial nutritional compartments (albumen, yolk). We analyzed the transcriptome of ovary and three segments of oviduct, including magnum, isthmus and uterus in the chicken during egg formation. RNA-Seq libraries (42 in total) ...

journal_title：Genomics

authors： Yin Z,Lian L,Zhu F,Zhang ZH,Hincke M,Yang N,Hou ZC

更新日期：2020-01-01 00:00:00

abstract：:We have determined the chromosomal localization of four human homeobox-containing genes, EMX1, EMX2, OTX1, and OTX2, related to Drosophila genes expressed in the developing head of the fly. Murine homologs of these genes are expressed in specific nested domains in the developing rostral brain of midgestation embryos. ...

journal_title：Genomics

authors： Kastury K,Druck T,Huebner K,Barletta C,Acampora D,Simeone A,Faiella A,Boncinelli E

更新日期：1994-07-01 00:00:00

abstract：:We developed a computational model to explore the hypothesis that regulatory instructions are context dependent and conveyed through specific 'codes' in human genomic DNA. We provide examples of correlation of computational predictions to reported mapped DNase I hypersensitive segments in the HOXA locus in human chrom...

journal_title：Genomics

authors： Bina M,Wyss P,Lazarus SA,Shah SR,Ren W,Szpankowski W,Crawford GE,Park SP,Song XC

更新日期：2009-04-01 00:00:00

abstract：:Examination of mouse strains with a slit lamp and indirect ophthalmoscopy revealed that strain CBA/CaGnLe has a white cataract obvious at weaning age. It soon progresses to a large white nuclear cataract with mild cortical changes. Crosses with C57BL/6J showed that this is inherited as a single recessive fully penetra...

journal_title：Genomics

authors： Chang B,Hawes NL,Smith RS,Heckenlively JR,Davisson MT,Roderick TH

更新日期：1996-08-15 00:00:00

abstract：:The Friedreich's ataxia locus has been previously assigned to chromosome 9q 13-21.1 by the demonstration of tight linkage to two anonymous DNA markers. MCT112 (Z greater than 80, theta = 0) and DR47 (Z greater than 50, theta = 0). The absence of recombination between these three loci has prevented the resolution of ge...

journal_title：Genomics

authors： Wilkes D,Shaw J,Anand R,Riley J,Winter P,Wallis J,Driesel AG,Williamson R,Chamberlain S

更新日期：1991-01-01 00:00:00

abstract：:Inducible costimulatory receptor (ICOS) is one recently identified member of the CD28 family of costimulatory molecules. Evidence suggests ICOS functions as a critical immune regulator and, to evaluate these effects, we employed the canine model system that has been used to develop strategies currently in clinical use...

journal_title：Genomics

authors： Lee JH,Joo YD,Yim D,Lee R,Ostrander EA,Loretz C,Little MT,Storb R,Kuhr CS

更新日期：2004-10-01 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：: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：:Treacher Collins syndrome is an autosomal dominant condition of bilateral craniofacial abnormalities of structures derived from the first and second branchial arches. A patient with severe manifestations of Treacher Collins syndrome and a de novo chromosomal deletion in region 4p15.32----p14 was identified. Anonymous ...

journal_title：Genomics

authors： Jabs EW,Coss CA,Hayflick SJ,Whitmore TE,Pauli RM,Kirkpatrick SJ,Meyers DA,Goldberg R,Day DW,Rosenbaum KN

更新日期：1991-09-01 00:00:00

abstract：:Neurofibromatosis 1 maps to chromosome band 17q11.2, and the NF1 locus has been partially characterized. Even though the full-length NF1 cDNA has been sequenced, the complete genomic structure of the NF1 gene has not been elucidated. The 5' end of NF1 is embedded in a CpG island containing a NotI restriction site, and...

journal_title：Genomics

authors： Li Y,O'Connell P,Breidenbach HH,Cawthon R,Stevens J,Xu G,Neil S,Robertson M,White R,Viskochil D

更新日期：1995-01-01 00:00:00

abstract：:The molecular mechanisms of action of a HIV protease inhibitor, ritonavir, on hepatic function were explored on a genomic scale using microarrays comprising genes expressed in the liver of Sprague-Dawley rats (Rattus norvegicus). Analyses of hepatic transcriptional fingerprints led to the identification of several key...

journal_title：Genomics

authors： Lum PY,He YD,Slatter JG,Waring JF,Zelinsky N,Cavet G,Dai X,Fong O,Gum R,Jin L,Adamson GE,Roberts CJ,Olsen DB,Hazuda DJ,Ulrich RG

更新日期：2007-10-01 00:00:00

abstract：:The WD-repeat protein family consists of a large group of structurally related yet functionally diverse proteins found predominantly in eukaryotic cells. These factors contain several (4-16) copies of a recognizable amino-acid sequence motif (the WD unit) thought to be organized into a "propeller-like" structure invol...

journal_title：Genomics

authors： Nal B,Mohr E,Silva MI,Tagett R,Navarro C,Carroll P,Depetris D,Verthuy C,Jordan BR,Ferrier P

更新日期：2002-01-01 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 STM7 gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase (PtdInsP 5-kinase) that is subject to alternative splicing and developmental control. We have recently presented data indicating that several splice variants of STM7 incorporate elements of the X25 sequence, previously implicated in the pathogenes...

journal_title：Genomics

authors： Pook MA,Carvajal JJ,Doudney K,Hillermann R,Chamberlain S

更新日期：1997-05-15 00:00:00

abstract：:A NotI end clone library has been constructed from a human-hamster hybrid cell line containing only human chromosome 11. Fifty-one NotI clones were chosen to characterize the library. The majority of NotI clones hybridize to small 15- to 200-kb fragments and have proven to be valuable for chromosome 11 physical mappin...

journal_title：Genomics

authors： Sanford J,Kim BW,Deaven LL,Jones C,Higgins MJ,Nowak NJ,Shows TB

更新日期：1993-03-01 00:00:00

abstract：:Klebsiella variicola is an emerging pathogen responsible for causing blood-stream infections, urinary and respiratory tract related diseases in humans. In this report, we describe the genome sequence data and phenotypic characterization of K. variicola strain KV093 isolated from India. Comparative genome sequence anal...

journal_title：Genomics

authors： Srinivasan VB,Rajamohan G

更新日期：2020-09-01 00:00:00