Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6.

abstract：:Interleukin-1 beta (IL-1 beta) mediates a wide range of immune and inflammatory responses. The active cytokine is generated by proteolytic cleavage of an inactive precursor by a protease called the IL-1 beta converting enzyme (ICE). A cDNA encoding this protease was recently isolated. A human genomic clone containing ...

journal_title：Genomics

authors： Cerretti DP,Hollingsworth LT,Kozlosky CJ,Valentine MB,Shapiro DN,Morris SW,Nelson N

更新日期：1994-04-01 00:00:00

abstract：:The human homologs of the mouse homeo box-containing genes, En-1 and En-2, which show homology to the Drosophila engrailed gene, have been isolated. The human EN1 gene was mapped to chromosome 2 by analysis of mouse-human somatic cell hybrids. The human EN2 gene was localized to chromosome 7, 7q32-7qter, by analysis o...

journal_title：Genomics

authors： Logan C,Willard HF,Rommens JM,Joyner AL

更新日期：1989-02-01 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：:The acyl-CoA binding protein (ACBP) and the diazepam binding inhibitor (DBI) or endozepine are independent isolates of a single 86-amino-acid, 10-kDa protein. ACBP/DBI is highly conserved between species and has been identified in several diverse organisms, including human, cow, rat, frog, duck, insects, plants, and y...

journal_title：Genomics

authors： Gersuk VH,Rose TM,Todaro GJ

更新日期：1995-01-20 00:00:00

abstract：:Sex determination in humans is mediated through the expression of a testis-determining gene on the Y chromosome. In humans, a candidate gene for the testis-determining factor (TDF) that encodes a protein with a putative DNA-binding motif and has been isolated is termed SRY. Here we describe an XY sex-reversed female w...

journal_title：Genomics

authors： McElreavey KD,Vilain E,Boucekkine C,Vidaud M,Jaubert F,Richaud F,Fellous M

更新日期：1992-07-01 00:00:00

abstract：:We cloned and characterized a genomic DNA fragment including the deletion junction of a chronic granulomatous disease patient with a 25-kb deletion extending to the 5' two-thirds of CYBB. The 3' breakpoint of the deletion exists in exon 7 of CYBB. A LINE-1 element lies at 5 kb upstream of CYBB in normal persons, and t...

journal_title：Genomics

authors： Kumatori A,Faizunnessa NN,Suzuki S,Moriuchi T,Kurozumi H,Nakamura M

更新日期：1998-10-15 00:00:00

abstract：:alpha-Satellite subfamilies from chromosomes 21 and 13 are almost identical in sequence and cannot be distinguished from each other by hybridization techniques. A general method based on membrane-bound PCR is described here, allowing the discrimination of alpha-satellite DNA sequences from each of these two chromosome...

journal_title：Genomics

authors： Charlieu JP,Murgue B,Laurent AM,Marçais B,Bellis M,Roizès G

更新日期：1992-10-01 00:00:00

abstract：:We describe the construction and characterization of methylation-resistant sequence-tagged NotI linking clones specific for the X chromosome, referred to as NotI-BsuE linking clones. The approach consists of methylating the X-chromosome-specific cloned DNA with BsuE methylase (M. BsuE), an enzyme that methylates the f...

journal_title：Genomics

authors： Arenstorf HP,Kandpal RP,Baskaran N,Parimoo S,Tanaka Y,Kitajima S,Yasukochi Y,Weissman SM

更新日期：1991-09-01 00:00:00

abstract：:We have constructed a long-range contig of cosmid and YAC clones around D10S102, a locus that is tightly linked to the gene responsible for multiple endocrine neoplasia type 2A (MEN2A). With D10S102 as a starting point, a 360-kb cosmid contig was constructed by bidirectional genomic walking, and at least six fragments...

journal_title：Genomics

authors： Tokino T,Imai T,Tanigami A,Takiguchi S,Nakamura Y

更新日期：1992-02-01 00:00:00

abstract：:We report the construction of a 1.5-Mb-resolution radiation hybrid map of the domestic cat genome. This new map includes novel microsatellite loci and markers derived from the 2X genome sequence that target previous gaps in the feline-human comparative map. Ninety-six percent of the 1793 cat markers we mapped have ide...

journal_title：Genomics

authors： Murphy WJ,Davis B,David VA,Agarwala R,Schäffer AA,Pearks Wilkerson AJ,Neelam B,O'Brien SJ,Menotti-Raymond M

更新日期：2007-02-01 00:00:00

abstract：:Despite the broad variety of available microRNA (miRNA) prediction tools, their application to the discovery and annotation of novel miRNA genes in domestic species is still limited. In this study we designed a comprehensive pipeline (eMIRNA) for miRNA identification in the yet poorly annotated porcine genome and demo...

journal_title：Genomics

authors： Mármol-Sánchez E,Cirera S,Quintanilla R,Pla A,Amills M

更新日期：2020-05-01 00:00:00

abstract：:RNA-seq is the method of choice for getting a primary list of genes for non-model organisms. Once this is achieved, one would proceed to annotate the newly discovered genes and consequently strive to position the organism in an evolutionary context. These kinds of studies involving high-throughput sequencing generate ...

journal_title：Genomics

authors： Zahavi T,Stelzer G,Strauss L,Salmon AY,Salmon-Divon M

更新日期：2015-03-01 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：: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 genes encoding the alpha 1 chain of Type III collagen (COL3A1) and the alpha 2 chain of Type V (COL5A2) collagen have been mapped to the long arm of human chromosome 2. Linkage analysis in CEPH families indicated that these two genes are close to each other, with no recombination in 37 informative meioses. In the ...

journal_title：Genomics

authors： Cutting GR,McGinniss MJ,Kasch LM,Tsipouras P,Antonarakis SE

更新日期：1990-10-01 00:00:00

abstract：:The human genome harbors thousands of long terminal repeats (LTRs) that are derived from endogenous retroviruses and contain elements able to regulate the expression of neighboring cellular genes. We have investigated the ability of human endogenous retroviral (HERV)-K LTRs to provide transcriptional processing signal...

journal_title：Genomics

authors： Baust C,Seifarth W,Germaier H,Hehlmann R,Leib-Mösch C

更新日期：2000-05-15 00:00:00

abstract：:In the past decades, the rapid growth of computer and database technologies has led to the rapid growth of large-scale medical datasets. On the other, medical applications with high dimensional datasets that require high speed and accuracy are rapidly increasing. One of the dimensionality reduction approaches is featu...

journal_title：Genomics

authors： Rostami M,Forouzandeh S,Berahmand K,Soltani M

更新日期：2020-11-01 00:00:00

abstract：:We used a combination of sequence analysis and exon trapping in an effort to determine the complete transcript map for a cosmid (6E5) derived from 12q13.3, a region of DNA sequence amplification in human cancers. This cosmid, previously known to contain three genes (CDK4, SAS, and OS9), was sequenced, and that informa...

journal_title：Genomics

authors： Elkahloun AG,Krizman DB,Wang Z,Hofmann TA,Roe B,Meltzer PS

更新日期：1997-06-01 00:00:00

abstract：:TM4SF11 is only 102 kb from the chemokine gene cluster composed of SCYA22, SCYD1, and SCYA17 on chromosome 16q13. CKLF maps on chromosome 16q22. CKLFs have some characteristics associated with the CCL22/MDC, CX3CL1/fractalkine, CCL17/TARC, and TM4SF proteins. Bioinformatics based on CKLF2 cDNA and protein sequences in...

journal_title：Genomics

authors： Han W,Ding P,Xu M,Wang L,Rui M,Shi S,Liu Y,Zheng Y,Chen Y,Yang T,Ma D

更新日期：2003-06-01 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：:Long sequencing reads offer unprecedented opportunities in analysis and reconstruction of complex genomic regions. However, the gain in sequence length is often traded for quality. Therefore, recently several approaches have been proposed (e.g. higher sequencing coverage, hybrid assembly or sequence correction) to enh...

journal_title：Genomics

authors： Mahmoud M,Zywicki M,Twardowski T,Karlowski WM

更新日期：2019-01-01 00:00:00

abstract：:We have established PCR assays for the genes coding for the major proteins of the desmosome type of cell junction, the desmosomal cadherins DGI (desmoglein) and DGII/III (desmocollins), and the plaque proteins DPI/II (desmoplakin) and DPIII (plakoglobin) and used them to test human-mouse and human-rat somatic cell hyb...

journal_title：Genomics

authors： Arnemann J,Spurr NK,Wheeler GN,Parker AE,Buxton RS

更新日期：1991-07-01 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：:The GM2 activator locus (GM2A) had previously been considered as a candidate gene for some forms of spinal muscular atrophy (SMA; mapped to 5q11.2-q13.3). It was eliminated as a possible candidate because PCR-based mapping failed to localize the gene to chromosome 5, as was previously reported using an ELISA-based met...

journal_title：Genomics

authors： Heng HH,Xie B,Shi XM,Tsui LC,Mahuran DJ

更新日期：1993-11-01 00:00:00

abstract：:The imprinted mouse H19 gene exhibits maternal allele-specific expression and paternal allele-specific hypermethylation. We previously demonstrated that a 14-kb H19 minitransgene possessing 5' differentially methylated sequence recapitulates the endogenous H19 imprinting pattern when present as high-copy arrays. To in...

journal_title：Genomics

authors： Cranston MJ,Spinka TL,Elson DA,Bartolomei MS

更新日期：2001-04-01 00:00:00

abstract：:MicroRNAs control gene expression at the posttranscriptional level by base-pairing to the 3'-UTR of their target mRNAs, thus leading to mRNA degradation of protein fabrication. We hypothesize, SNPs within miRNAs and their targets could be of significance to an individual's risk of developing cancer. We analyzed in sil...

journal_title：Genomics

authors： Reshmi G,Surya R,Jissa VT,Babu PS,Preethi NR,Santhi WS,Jayaprakash PG,Pillai MR

更新日期：2011-09-01 00:00:00

abstract：:Random forests (RF) is a popular tree-based ensemble machine learning tool that is highly data adaptive, applies to "large p, small n" problems, and is able to account for correlation as well as interactions among features. This makes RF particularly appealing for high-dimensional genomic data analysis. In this articl...

journal_title：Genomics

authors： Chen X,Ishwaran H

更新日期：2012-06-01 00:00:00

abstract：:In an attempt to identify the genetic basis for susceptibility to non-insulin-dependent diabetes mellitus within the context of obesity, we generated 401 genetically obese Leprfa/Leprfa F2 WKY13M intercross rats that demonstrated wide variation in multiple phenotypic measures related to diabetes, including plasma gluc...

journal_title：Genomics

authors： Chung WK,Zheng M,Chua M,Kershaw E,Power-Kehoe L,Tsuji M,Wu-Peng XS,Williams J,Chua SC Jr,Leibel RL

更新日期：1997-05-01 00:00:00

abstract：:Duplicated segments of genomic DNA can catalyze both gene evolution and chromosome evolution. Here we describe a rodent-specific duplication involving the Uqcrb gene, a cis-regulatory element for the Gdf6 gene, and a chromosomal rearrangement. Comparisons of Gdf6 sequences from several placental mammals and platypus r...

journal_title：Genomics

authors： Mortlock DP,Portnoy ME,Chandler RL,NISC Comparative Sequencing Program.,Green ED

更新日期：2004-11-01 00:00:00

abstract：:A new member of the insulin gene superfamily (INSL5) was identified by searching EST databases for the presence of the conserved insulin B-chain cysteine motif. Human and murine INSL5 are both polypeptides of 135 amino acids, matching the classical signature of the insulin superfamily. Through the B- and A-chain regio...

journal_title：Genomics

authors： Conklin D,Lofton-Day CE,Haldeman BA,Ching A,Whitmore TE,Lok S,Jaspers S

更新日期：1999-08-15 00:00:00