A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2.

abstract：:Glutamate dehydrogenase is a mitochondrially located, key metabolic enzyme. In addition to its general metabolic role, GLUD is important in neurotransmission. Significant alterations in GLUD enzymatic activity have been associated with certain neurodegenerative human disorders. Although a single species of human GLUD ...

journal_title：Genomics

authors： Michaelidis TM,Tzimagiorgis G,Moschonas NK,Papamatheakis J

更新日期：1993-04-01 00:00:00

abstract：:A comparison of the murine and human junB loci reveals nine regions of distal 5'- and 3'-flanking DNA that exhibit greater than 72% sequence identity. A large fraction (over 50%) of the junB locus is contained in these flanking evolutionarily conserved sequences (FECS), which may be required for effecting the proper t...

journal_title：Genomics

authors： Phinney DG,Tseng SW,Ryder K

更新日期：1995-07-20 00:00:00

abstract：:Using a panel of patient cell lines with chromosomal breakpoints, we constructed a physical map for the short arm of human chromosome 11. We focused on 11p15, a chromosome band harboring at least 25 known genes and associated with the Beckwith-Wiedemann syndrome, several childhood tumors, and genomic imprinting. This ...

journal_title：Genomics

authors： Redeker E,Hoovers JM,Alders M,van Moorsel CJ,Ivens AC,Gregory S,Kalikin L,Bliek J,de Galan L,van den Bogaard R

更新日期：1994-06-01 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：: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：:The human UBE2L3 gene encodes the ubiquitin-conjugating enzyme UbcH7, demonstrated to participate in the ubiquitination of p53, c-Fos, and NF-kappaB in vitro. We report the fine-mapping of this four-exon gene to chromosome 22q11.2. We have constructed a comprehensive genomic clone contig across this gene, demonstratin...

journal_title：Genomics

authors： Moynihan TP,Cole CG,Dunham I,O'Neil L,Markham AF,Robinson PA

更新日期：1998-07-01 00:00:00

abstract：:NotI and EagI boundary libraries were constructed for human chromosome 21. One hundred forty-seven clones were isolated from the somatic cell hybrid 72532X-6 and localized using a hybrid mapping panel. After identification of those clones, which were isolated more than once, as well as those probes derived from a prev...

journal_title：Genomics

authors： Gao JZ,Erickson P,Patterson D,Jones C,Drabkin H

更新日期：1991-05-01 00:00:00

abstract：:To study the function of the B cell signal transduction molecule alpha 4 (IGBP1), we isolated a human alpha 4 (IGBP1) gene that has sequence similarity to the yeast protein (TAP42) involved in the rapamycin-sensitive signal transduction pathway. The human alpha 4 has sequence identities with murine alpha 4 of 83.4% nu...

journal_title：Genomics

authors： Onda M,Inui S,Maeda K,Suzuki M,Takahashi E,Sakaguchi N

更新日期：1997-12-15 00:00:00

abstract：:We report a genetic linkage map of the pericentromeric region of the human X chromosome, extending from Xp11 to Xq13. Genetic analysis with five polymorphic markers, including centromeric alpha satellite DNA, spanned a distance of approximately 38 cM. Significant lod scores were obtained with linkage analysis in 26 fa...

journal_title：Genomics

authors： Mahtani MM,Willard HF

更新日期：1988-05-01 00:00:00

abstract：:By direct sequence analysis of 94 mutant phenylalanine hydroxylase alleles using polymerase chain reaction-based techniques, we identified a C to T transition in exon 7 of the human phenylalanine hydroxylase gene that is associated with RFLP haplotypes 1 and 4. A leucine for proline substitution at position 281 can be...

journal_title：Genomics

authors： Dworniczak B,Grudda K,Stümper J,Bartholomé K,Aulehla-Scholz C,Horst J

更新日期：1991-01-01 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：:For diseases in which thrombosis plays a pivotal role, such as virus-induced fulminant hepatitis, fetal loss syndrome, and xenograft rejection, the major procoagulant has remained elusive. Here we describe the isolation and functional expression of a distinct human prothrombinase, termed FGL2. The murine fgl2 gene pro...

journal_title：Genomics

authors： Yuwaraj S,Ding J,Liu M,Marsden PA,Levy GA

更新日期：2001-02-01 00:00:00

abstract：:A linkage analysis with 12 DNA markers from proximal 19q was performed in eight families with central core disease (CCO). Two-point analysis gave a peak lod score of Z = 4.95 at theta = 0.00 for the anonymous marker D19S190 and of Z = 2.53 at theta = 0.00 for the ryanodine receptor (RYR1) candidate gene. Multipoint li...

journal_title：Genomics

authors： Schwemmle S,Wolff K,Palmucci LM,Grimm T,Lehmann-Horn F,Hübner C,Hauser E,Iles DE,MacLennan DH,Müller CR

更新日期：1993-07-01 00:00:00

abstract：UNLABELLED:Pancreatic cancer is one of the most aggressive malignant tumors, mainly due to an aggressive metastasis spreading. In recent years, circulating tumor cells became associated to tumor metastasis. Little is known about their expression profiles. The aim of this study was to develop a complete workflow making ...

journal_title：Genomics

authors： Görner K,Bachmann J,Holzhauer C,Kirchner R,Raba K,Fischer JC,Martignoni ME,Schiemann M,Alunni-Fabbroni M

更新日期：2015-07-01 00:00:00

abstract：:The identification and sequence of KiSS-1 (HGMW-approved symbol, KISS1), a human malignant melanoma metastasis-suppressor gene, was recently published. In this report, we present a corrected genomic sequence, genomic structure, and refined chromosomal location for KiSS-1. The genomic organization of the sequence revea...

journal_title：Genomics

authors： West A,Vojta PJ,Welch DR,Weissman BE

更新日期：1998-11-15 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：:The human homeobox gene HLX1 appears to be involved in hemopoietic development and may represent a candidate gene for various developmental or hemopoietic disorders. We have isolated genomic clones for the gene, determined its intron-exon organization, and confirmed its map location on chromosome 1q41-q42. The transcr...

journal_title：Genomics

authors： Kennedy MA,Rayner JC,Morris CM

更新日期：1994-07-15 00:00:00

abstract：:DNA libraries often contain very large numbers of clones (from 1000 up to 700,000). Since at present it is impossible to analyze all of these clones, usually statistical samples comprising less than 100 clones are tested. The quality of the library is then assessed by linear extrapolation. Occasionally, full coverage ...

journal_title：Genomics

authors： Köllner M,Greulich KO

更新日期：1994-09-01 00:00:00

abstract：:Cardiomyopathies are severe degenerative disorders of the myocardium that lead to heart failure. During the last three decades bovine dilated cardiomyopathy (BDCMP) was observed worldwide in cattle of Holstein-Friesian origin. In the Swiss cattle population BDCMP affects Fleckvieh and Red Holstein breeds. The heart of...

journal_title：Genomics

authors： Owczarek-Lipska M,Plattet P,Zipperle L,Drögemüller C,Posthaus H,Dolf G,Braunschweig MH

更新日期：2011-01-01 00:00:00

abstract：:In this study we describe a modification of the bisulfite genomic sequencing protocol that enables detection of methylation from as few as five diploid cells from preimplantation mouse embryos. We have used bisulfite genomic sequencing to study the methylation profile of the putative imprinting element upstream of the...

journal_title：Genomics

authors： Warnecke PM,Mann JR,Frommer M,Clark SJ

更新日期：1998-07-15 00:00:00

abstract：:Although occasional DNA polymorphisms have been observed in inbred mice, CBA/J and C3H/HeN mice have two microsatellite alleles at over 1/3 of microsatellite loci tested. Since DNA polymorphisms were not detected in DBA/2J, C57BL/6J, and BALB/cJ, the frequency of microsatellite polymorphisms appears to be strain speci...

journal_title：Genomics

authors： Yuan B,Shum-Siu A,Lentsch EM,Hu LH,Hendler FJ

更新日期：1996-11-15 00:00:00

abstract：:We mapped the owl monkey colony-stimulating factor 1 receptor (CSF1R) locus to the proximal region of chromosome 3q of karyotype VI(K-VI) and karyotype V(K-V) and the interleukin 5 (IL5) locus to the mid-region of chromosome 3q(K-VI) and 19q(K-IV) using a combination of Southern hybridization of somatic cells and in s...

journal_title：Genomics

authors： Ma NS,Lin KC

更新日期：1992-08-01 00:00:00

abstract：:The association of the HLA class III region with many diseases motivates the investigation of unidentified genes in the 30-kb segment between complement component genes Bf and C4. RD, which codes for a putative RNA binding protein, is 205 bp downstream of Bf. SKI2W (HGMW-approved symbol SKIV2L), a DEVH-box gene probab...

journal_title：Genomics

authors： Yang Z,Shen L,Dangel AW,Wu LC,Yu CY

更新日期：1998-11-01 00:00:00

abstract：:The genes for three subtilisin/kexin-like proprotein convertases, PC4, PC5, and PACE4, were mapped in the mouse by RFLP analysis of a DNA panel from a (C57BL/6JEi x SPRET/Ei)F1 x SPRET/Ei backcross. The chromosomal locations of the human homologs were determined by Southern blot analysis of a DNA panel from human-rode...

journal_title：Genomics

authors： Mbikay M,Seidah NG,Chrétien M,Simpson EM

更新日期：1995-03-01 00:00:00

abstract：:The sequence of the human Gc gene, including 4228 base pairs of the 5'-flanking region and 8514 base pairs of the 3' flanking region (55,136 in total), was determined from five overlapping lambda phage clones. The sequence spans 42,394 base pairs from the cap site to the polyadenylation site, and it reveals that the g...

journal_title：Genomics

authors： Witke WF,Gibbs PE,Zielinski R,Yang F,Bowman BH,Dugaiczyk A

更新日期：1993-06-01 00:00:00

abstract：:Uroporphyrinogen-III synthase (URO-S; EC 4.2.1.75), the fourth enzyme in the heme biosynthetic pathway, is responsible for the conversion of hydroxymethylbilane to the cyclic tetrapyrrole, uroporphyrinogen III. The deficient activity of URO-S is the enzymatic defect in congenital erythropoietic porphyria (CEP), an aut...

journal_title：Genomics

authors： Xu W,Kozak CA,Desnick RJ

更新日期：1995-04-10 00:00:00

abstract：:Mcm proteins perform functions related to the regulation of eukaryotic genome replication. Previous work has shown that human cells contain at least five different Mcm proteins. We report now the amino acid sequence of an additional human Mcm protein, p105Mcm, and show that it is homologous to the Schizosaccharomyces ...

journal_title：Genomics

authors： Holthoff HP,Hameister H,Knippers R

更新日期：1996-10-01 00:00:00

abstract：:The region of the dystrophin gene containing introns 45-50 is characterized by a high rate of recombination events that give rise to large deletions causing dystrophinopathy. The nucleotide sequence of this intronic region has recently been released in GenBank. With the aim of further understanding the mechanism favor...

journal_title：Genomics

authors： Toffolatti L,Cardazzo B,Nobile C,Danieli GA,Gualandi F,Muntoni F,Abbs S,Zanetti P,Angelini C,Ferlini A,Fanin M,Patarnello T

更新日期：2002-11-01 00:00:00

abstract：:Na(+)-coupled HCO(3)(-) transporters (NCBTs) of the SLC4 family play critical roles in pH regulation as well as transepithelial HCO(3)(-) transport. We systematically examined, in the mouse reproductive tract tissues, the mRNA expression of five NCBTs as well as the five NBCe1 (Slc4a4) variants NBCe1-A through -E, of ...

journal_title：Genomics

authors： Liu Y,Xu JY,Wang DK,Wang L,Chen LM

更新日期：2011-08-01 00:00:00

abstract：:The human gene encoding the muscle-specific beta-enolase has been isolated. The beta-enolase gene was mapped to chromosome 17 by analysis of a panel of rodent-human somatic cell hybrids. The gene was further localized to the short arm and tentatively to the region 17pter-p11 by analysis of cell hybrids and transfectan...

journal_title：Genomics

authors： Feo S,Oliva D,Barbieri G,Xu WM,Fried M,Giallongo A

更新日期：1990-01-01 00:00:00