Linked markers flanking the gene for multiple endocrine neoplasia type 2A.

abstract：:Friedreich ataxia results from frataxin insufficiency caused by repeat expansion in intron 1 of the frataxin gene. Since the coding sequence is unchanged, the potential exists to ameliorate symptoms by increasing frataxin promoter activity. We therefore defined the minimal frataxin promoter in humans. Despite the fact...

journal_title：Genomics

authors： Greene E,Entezam A,Kumari D,Usdin K

更新日期：2005-02-01 00:00:00

abstract：:DNA hybridization was used to isolate a 2.04-kb cDNA encoding carboxyl ester lipase (CEL) from a mouse lactating mammary gland, lambda gt10 cDNA library. The cDNA sequence translated into a protein of 599 amino acids, including 20 amino acids of a putative signal peptide. Comparison of the deduced amino acid sequence ...

journal_title：Genomics

authors： Lidmer AS,Kannius M,Lundberg L,Bjursell G,Nilsson J

更新日期：1995-09-01 00:00:00

abstract：:Usher syndrome type 1 (USH1) is an autosomal recessive, genetically heterogeneous disorder causing severe congenital deafness, retinitis pigmentosa, and vestibular dysfunction. The USHla locus located on 14q32 has been linked to the genetic markers D14S250 and D14S78. Using D14S250 and D14S78, we have isolated two non...

journal_title：Genomics

authors： Eudy JD,Ma-Edmonds M,Yao SF,Talmadge CB,Kelley PM,Weston MD,Kimberling WJ,Sumegi J

更新日期：1997-07-01 00:00:00

abstract：:We used fluorescence in situ hybridization and digital image analysis to localize cosmids along human chromosome 17. Seventy-one cosmids were selected at random from a chromosome 17 library constructed from a partial Sau3AI digest of flow-sorted chromosomes from a mouse-human hybrid cell line. Sixty-three of these (89...

journal_title：Genomics

authors： Kallioniemi OP,Kallioniemi A,Mascio L,Sudar D,Pinkel D,Deaven L,Gray J

更新日期：1994-03-01 00:00:00

abstract：:Familial dysplastic nevus syndrome (DNS) is an autosomal dominant premalignant condition characterized by multiple large moles of variable size and color and a strongly increased risk for cutaneous malignant melanoma. In order to determine the chromosomal localization of the DNS gene, linkage studies were initiated in...

journal_title：Genomics

authors： van Haeringen A,Bergman W,Nelen MR,van der Kooij-Meijs E,Hendrikse I,Wijnen JT,Khan PM,Klasen EC,Frants RR

更新日期：1989-07-01 00:00:00

abstract：:The human CBFA2T1 (also known as MTG8) gene, on chromosome 8, has been identified through its involvement in the t(8;21) chromosomal translocation, frequently found in acute myeloid leukemia. We report here the isolation and characterization of the mouse homologue of the CBFA2T1 gene, Cbfa2t1h. Nucleotide sequence ana...

journal_title：Genomics

authors： Niwa-Kawakita M,Miyoshi H,Gotoh O,Matsushima Y,Nishimura M,Shisa H,Ohki M

更新日期：1995-10-10 00:00:00

abstract：:We describe the isolation and characterization of a human gene (CLCN3) and its murine homologue (Clcn3) sharing significant sequence and structural similarities with all previously identified members of the voltage-gated chloride channel (ClC) family. This gene is expressed primarily in tissues derived from neuroectod...

journal_title：Genomics

authors： Borsani G,Rugarli EI,Taglialatela M,Wong C,Ballabio A

更新日期：1995-05-01 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：:The cytotoxic activity of mouse natural killer cells is regulated in part through cell surface molecules belonging to the Ly49 multigene family. In mice, the genomic sequence of the Ly49 gene cluster has been examined in detail and this analysis provided a model of the expansion of this multigene family. In the presen...

journal_title：Genomics

authors： Wilhelm BT,Mager DL

更新日期：2004-07-01 00:00:00

abstract：:Bacterial artificial chromosomes (BACs) provide a well-characterized resource for studying the functional organization of genes and other large chromosomal domains. To facilitate functional studies in cell cultures, we have developed a simple approach for generating stable cell lines with variable copy numbers of any ...

journal_title：Genomics

authors： Illenye S,Heintz NH

更新日期：2004-01-01 00:00:00

abstract：:Physical maps of the human genome are being constructed by many groups using a mapping strategy that relies on the development of sequence-tagged sites (STSs). Thousands of physically mapped STSs, representing hundreds of kilobases (kb) of unique human DNA sequence, have been generated by these efforts. Since sequence...

journal_title：Genomics

authors： Kwok PY,Deng Q,Zakeri H,Taylor SL,Nickerson DA

更新日期：1996-01-01 00:00:00

abstract：:Expressed sequence tags (ESTs) have been obtained from several hundred brain cDNAs as an initial effort to characterize expressed brain genes. These ESTs will become tools for human genome mapping and they will also provide candidate causative genes for inherited disorders affecting the central nervous system. We have...

journal_title：Genomics

authors： Polymeropoulos MH,Xiao H,Glodek A,Gorski M,Adams MD,Moreno RF,Fitzgerald MG,Venter JC,Merril CR

更新日期：1992-03-01 00:00:00

abstract：:The gene responsible for the second form of autosomal dominant polycystic kidney disease, PKD2, has recently been identified. We now describe the cloning, genomic localization, cDNA sequence, and expression analysis of its murine homologue, Pkd2. The cloned cDNA sequence is 5134 bp long and is predicted to encode a 96...

journal_title：Genomics

authors： Wu G,Mochizuki T,Le TC,Cai Y,Hayashi T,Reynolds DM,Somlo S

更新日期：1997-10-01 00:00:00

abstract：:Androcam is a Drosophila melanogaster calmodulin-related protein that functions specifically in the testis. We show that the Acam gene is part of a cluster of three intronless genes arranged in a head-to-tail manner. The additional genes also encode calmodulin-related proteins with testis-specific transcription. Acam ...

journal_title：Genomics

authors： Pavlik P,Konduri V,Massa E,Simonette R,Beckingham KM

更新日期：2006-09-01 00:00:00

abstract：:PKD1, the gene for the chromosome 16-linked form of autosomal dominant polycystic kidney disease, has previously been genetically mapped to an interval bounded by the polymorphic loci Fr3-42/EKMDA2 distally and O327hb/O90a proximally. More recently, 26.6PROX was identified as the closest proximal flanking locus. We se...

journal_title：Genomics

authors： Somlo S,Wirth B,Germino GG,Weinstat-Saslow D,Gillespie GA,Himmelbauer H,Steevens L,Coucke P,Willems P,Bachner L

更新日期：1992-05-01 00:00:00

abstract：:The human gene XPC (formerly designated XPCC), which corrects the repair deficiency of xeroderma pigmentosum (XP) group C cells, was mapped to 3p25. A cDNA probe for Southern blot hybridization and diagnostic PCR analyses of hybrid clone panels informative for human chromosomes in general and portions of chromosome 3 ...

journal_title：Genomics

authors： Legerski RJ,Liu P,Li L,Peterson CA,Zhao Y,Leach RJ,Naylor SL,Siciliano MJ

更新日期：1994-05-01 00:00:00

abstract：:Primary pulmonary hypertension (PPH), an often fatal disorder, is characterized by sustained elevation of pulmonary artery pressure of unknown cause. In its familial form (FPPH), the disorder segregates as an autosomal dominant and displays markedly reduced penetrance. A gene for FPPH was previously localized to a 25-...

journal_title：Genomics

authors： Machado RD,Pauciulo MW,Fretwell N,Veal C,Thomson JR,Vilariño Güell C,Aldred M,Brannon CA,Trembath RC,Nichols WC

更新日期：2000-09-01 00:00:00

abstract：:Multiple inositol polyphosphate phosphatase is the only enzyme known to hydrolyze the abundant metabolites inositol pentakisphosphate and inositol hexakisphosphate. We have previously demonstrated that the chick homolog of multiple inositol polyphosphate phosphatase, designated HiPER1, has a role in growth plate chond...

journal_title：Genomics

authors： Chi H,Tiller GE,Dasouki MJ,Romano PR,Wang J,O'keefe RJ,Puzas JE,Rosier RN,Reynolds PR

更新日期：1999-03-15 00:00:00

abstract：:We have previously reported a molecular and cytogenetic characterization of three different 5S rDNA clusters in the sea urchin Paracentrotus lividus and recently, demonstrated the presence of high heterogeneity in functional 5S rRNA. In this paper, we show some important distinctive data on 5S rRNA transcription for t...

journal_title：Genomics

authors： Bellavia D,Dimarco E,Naselli F,Caradonna F

更新日期：2013-10-01 00:00:00

abstract：:Perilipin 1 (PLIN1) protein, also known as lipid droplet-associated protein, is encoded by the PLIN1 gene and is able to anchor itself to the membranes of lipid droplets. The phosphorylation of PLIN1 is critical for the mobilization of fat in adipose tissue and plays an important role in regulating lipolysis and lipid...

journal_title：Genomics

authors： Shijun L,Khan R,Raza SHA,Jieyun H,Chugang M,Kaster N,Gong C,Chunping Z,Schreurs NM,Linsen Z

更新日期：2020-05-01 00:00:00

abstract：:Coevolution of cellular genetic compartments is a fundamental aspect in eukaryotic genome evolution that becomes apparent in serious developmental disturbances after interspecific organelle exchanges. The genus Oenothera represents a unique, at present the only available, resource to study the role of the compartmenta...

journal_title：Genomics

authors： Mrácek J,Greiner S,Cho WK,Rauwolf U,Braun M,Umate P,Altstätter J,Stoppel R,Mlcochová L,Silber MV,Volz SM,White S,Selmeier R,Rudd S,Herrmann RG,Meurer J

更新日期：2006-09-01 00:00:00

abstract：:Positional cloning strategies for the hemochromatosis gene have previously concentrated on a target area restricted to a maximum genomic expanse of 400 kb around the HLA-A and HLA-F loci. Recently, the candidate region has been extended to 2-3 Mb on the distal side of the MHC. In this study, 10 coding sequences [hemoc...

journal_title：Genomics

authors： Pichon L,Carn G,Bouric P,Giffon T,Chauvel B,Lepourcelet M,Mosser J,Legall JY,David V

更新日期：1996-03-01 00:00:00

abstract：:Paulownia tomentosa is an important foundation forest tree species in semiarid areas. The lack of genetic information hinders research into the mechanisms involved in its response to abiotic stresses. Here, short-read sequencing technology (Illumina) was used to de novo assemble the transcriptome on P. tomentosa. A to...

journal_title：Genomics

authors： Dong Y,Fan G,Deng M,Xu E,Zhao Z

更新日期：2014-10-01 00:00:00

abstract：:Mammalian genomes include DNA segments that are imprinted (CpG-methylated) only on one of the two parental chromosomes, leading to parent-of-origin-specific gene expression. The process is regulated by Imprinting Control Regions (ICRs) and germline Differentially Methylated Regions (gDMRs). Previously, ZFP57 was shown...

journal_title：Genomics

authors： Bina M

更新日期：2017-07-01 00:00:00

abstract：:Using a slot-blot method for the dosage of single-copy sequences, the copy numbers of 30 chromosome 21 markers were assessed in the blood DNA of 11 patients with partial trisomy or monosomy 21 and in the DNA of a patient-derived human-hamster hybrid cell line carrying a microduplication of chromosome 21. The physical ...

journal_title：Genomics

authors： Delabar JM,Chettouh Z,Rahmani Z,Theophile D,Blouin JL,Bono R,Kraus J,Barton J,Patterson D,Sinet PM

更新日期：1992-07-01 00:00:00

abstract：:Using cDNA probes obtained from library screening and anchored polymerase chain reaction, we have isolated and characterized three overlapping mouse genomic clones that contain the mouse lipocortin I (Lipo I) structural gene. Restriction enzyme mapping, Southern blotting, and DNA sequencing were carried out on the clo...

journal_title：Genomics

authors： Horlick KR,Cheng IC,Wong WT,Wakeland EK,Nick HS

更新日期：1991-06-01 00:00:00

abstract：:Current microarray technology allows researchers to genotype a large number of SNPs with relatively small amounts of DNA. Nevertheless, researchers and clinicians still frequently face the problem of acquiring enough high-quality DNA for analysis. Whole-genome amplification (WGA) methods offer a solution for this prob...

journal_title：Genomics

authors： Xing J,Watkins WS,Zhang Y,Witherspoon DJ,Jorde LB

更新日期：2008-12-01 00:00:00

abstract：:Heme oxygenase catalyzes the oxidation of heme to biliverdin, the precursor of the bile pigment bilirubin, and carbon monoxide, a putative neurotransmitter. We have employed polymerase chain reaction and fluorescence in situ hybridization to determine the chromosome localization of the genes coding for the two known h...

journal_title：Genomics

authors： Kutty RK,Kutty G,Rodriguez IR,Chader GJ,Wiggert B

更新日期：1994-04-01 00:00:00

abstract：:Farletuzumab (FAR) is a humanized monoclonal antibody (mAb) that binds to folate receptor alpha. A Ph3 trial in ovarian cancer patients treated with carboplatin/taxane plus FAR or placebo did not meet the primary statistical endpoint. Subgroup analysis demonstrated that subjects with high FAR exposure levels (Cmin>57....

journal_title：Genomics

authors： O'Shannessy DJ,Bendas K,Schweizer C,Wang W,Albone E,Somers EB,Weil S,Meredith RK,Wustner J,Grasso L,Landers M,Nicolaides NC

更新日期：2017-07-01 00:00:00

abstract：:Single-pass sequencing of randomly selected cDNA clones to generate expressed sequence tags (ESTs) has been widely used to identify novel genes and to study gene expression in a variety of tissues. We have generated 2244 ESTs from a human fetal heart library (GenBank Accession Nos. R30692-30774 and R56965-58824), whic...

journal_title：Genomics

authors： Hwang DM,Fung YW,Wang RX,Laurenssen CM,Ng SH,Lam WY,Tsui KW,Fung KP,Waye M,Lee CY

更新日期：1995-11-20 00:00:00