Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family.

abstract：:The spectrum of cystic fibrosis (CF) mutations was determined in 105 patients by using denaturing gradient gel electrophoresis to screen the entire coding regions and adjacent cystic fibrosis transmembrane conductance regulator (CFTR) gene sequences. The nucleotide substitutions detected included 16 novel mutations, 1...

journal_title：Genomics

authors： Fanen P,Ghanem N,Vidaud M,Besmond C,Martin J,Costes B,Plassa F,Goossens M

更新日期：1992-07-01 00:00:00

abstract：:Retinal degeneration slow (rds) is a mouse neurological mutation that is characterized phenotypically by abnormal development of rod and cone photoreceptors followed by their slow degeneration. This phenotype resembles the pathologic abnormalities seen in retinitis pigmentosa. The mouse rds gene has recently been clon...

journal_title：Genomics

authors： Travis GH,Christerson L,Danielson PE,Klisak I,Sparkes RS,Hahn LB,Dryja TP,Sutcliffe JG

更新日期：1991-07-01 00:00:00

abstract：:We describe here the cloning and characterization of the human gene ERMAP, identified by subtractive hybridization using early and late gestation human fetal liver. By in situ hybridization, we found human ERMAP to be expressed not only in erythoid cells in fetal liver and adult bone marrow, but also in reticulocytes ...

journal_title：Genomics

authors： Xu H,Foltz L,Sha Y,Madlansacay MR,Cain C,Lindemann G,Vargas J,Nagy D,Harriman B,Mahoney W,Schueler PA

更新日期：2001-08-01 00:00:00

abstract：:Whole-cell fusion between zebrafish fibroblast-like ZF4 cells and mouse B78 melanoma cells resulted in hybrids containing one or a few zebrafish chromosome segments in a murine chromosomal background. Fluorescence in situ hybridization to hybrid cell metaphases with a zebrafish genomic DNA probe revealed that many hyb...

journal_title：Genomics

authors： Ekker M,Speevak MD,Martin CC,Joly L,Giroux G,Chevrette M

更新日期：1996-04-01 00:00:00

abstract：:Palmitoyl-protein thioesterase (PPT) is a small glycoprotein that removes palmitate groups from cysteine residues in lipid-modified proteins. We recently reported mutations in PPT in patients with infantile neuronal ceroid lipofuscinosis (INCL), a severe neurodegenerative disorder (J. Vesa et al., 1995, Nature 376: 58...

journal_title：Genomics

authors： Schriner JE,Yi W,Hofmann SL

更新日期：1996-06-15 00:00:00

abstract：:Hermansky-Pudlak syndrome (HPS) is a group of human disorders of organelle biogenesis characterized by defective synthesis of melanosomes, lysosomes, and platelet dense granules. In the mouse, at least 15 loci are associated with mutant phenotypes similar to human HPS. We have identified the gene mutated in cocoa (coa...

journal_title：Genomics

authors： Suzuki T,Li W,Zhang Q,Novak EK,Sviderskaya EV,Wilson A,Bennett DC,Roe BA,Swank RT,Spritz RA

更新日期：2001-11-01 00:00:00

abstract：:The genomic structure, transcription start site, polyadenylation signals, and promoter of the human Na+/ myo-inositol cotransporter (SLC5A3) gene have been elucidated through cloning, sequencing, mRNA analyses, and reporter gene assays. The gene consists of one promoter and two exons spanning approximately 26 kb. Exon...

journal_title：Genomics

authors： Mallee JJ,Atta MG,Lorica V,Rim JS,Kwon HM,Lucente AD,Wang Y,Berry GT

更新日期：1997-12-15 00:00:00

abstract：:We isolated the human homologue, SUPT5H, of the yeast transcription factor, SPT5. The human homologue is 1088 aa long compared to 1063 aa for the yeast gene. SUPT5H maps to 19q13, near the ryanodine receptor. Like its family member, SUPT6H, and like yeast SPT5, SUPT5H has a very acidic 5' domain. Like its family membe...

journal_title：Genomics

authors： Chiang PW,Fogel E,Jackson CL,Lieuallen K,Lennon G,Qu X,Wang SQ,Kurnit DM

更新日期：1996-12-15 00:00:00

abstract：:Freshwater planarian flatworm possesses an extraordinary ability to regenerate lost body parts after amputation; it is perfect organism model in regeneration and stem cell biology. Recently, small RNAs have been an increasing concern and studied in many aspects, including regeneration and stem cell biology, among othe...

journal_title：Genomics

authors： Qin YF,Zhao JM,Bao ZX,Zhu ZY,Mai J,Huang YB,Li JB,Chen G,Lu P,Chen SJ,Su LL,Fang HM,Lu JK,Zhang YZ,Zhang ST

更新日期：2012-05-01 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：: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：:Complete or partial monosomy 7 is a recurring cytogenetic abnormality in acute myelogenous leukemia (AML) and myeloproliferative syndromes (MPS) and is particularly common in patients with Fanconi's anemia and in secondary AML. A familial form of monosomy 7 has been recognized in which two or more siblings develop MPS...

journal_title：Genomics

authors： Shannon KM,Turhan AG,Rogers PC,Kan YW

更新日期：1992-09-01 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：:A large insert canine genomic bacterial artificial chromosome (BAC) library was built from a Doberman pinscher. Approximately 166,000 clones were gridded on nine high-density hybridization filters. Insert analysis of randomly selected clones indicated a mean insert size of 155 kb and predicted 8.1 coverage of the cani...

journal_title：Genomics

authors： Li R,Mignot E,Faraco J,Kadotani H,Cantanese J,Zhao B,Lin X,Hinton L,Ostrander EA,Patterson DF,de Jong PJ

更新日期：1999-05-15 00:00:00

abstract：:The intron-exon organization of the human beta-adducin gene (ADD2) has been determined from overlapping genomic clones. The gene spans over 100 kb on chromosome 2p13 and comprises 17 exons. Seven of the exons are identical in size to the corresponding exons of the alpha-adducin gene (4p16.3), suggesting gene duplicati...

journal_title：Genomics

authors： Gilligan DM,Lozovatsky L,Silberfein A

更新日期：1997-07-15 00:00:00

abstract：:The yeast RAD52-dependent pathway is involved in DNA recombination and double-strand break repair. Yeast ubiquitin-conjugating enzyme UBC9 participates in S- and M-phase cyclin degradation and mitotic control. Using the human RAD52 protein as the "bait" in a yeast two-hybrid system, we have identified a human homolog ...

journal_title：Genomics

authors： Shen Z,Pardington-Purtymun PE,Comeaux JC,Moyzis RK,Chen DJ

更新日期：1996-10-15 00:00:00

abstract：:The human homeobox-containing genes EN1 and EN2 are closely related to the Drosophila pattern formation gene engrailed (en), which may be important in brain development, as shown by gene expression studies during mouse embryogenesis. Here, we have refined the localization of EN1 to human chromosome 2q13-q21 using a ma...

journal_title：Genomics

authors： Köhler A,Logan C,Joyner AL,Muenke M

更新日期：1993-01-01 00:00:00

abstract：:It is usually assumed that co-expressed genes suggest co-regulation in the underlying regulatory network. Determining sets of co-expressed genes is an important task, based on some criteria of similarity. This task is usually performed by clustering algorithms, where the genes are clustered into meaningful groups base...

journal_title：Genomics

authors： Pagnuco IA,Pastore JI,Abras G,Brun M,Ballarin VL

更新日期：2017-10-01 00:00:00

abstract：:Aspartylglucosaminuria (AGU) is a recessively inherited lysosomal disease caused by inadequate aspartylglucosaminidase (AGA) activity. The disease is prevalent in the genetically isolated Finnish population. We have used a new method, solid-phase minisequencing, to determine the frequency of two missense mutations in ...

journal_title：Genomics

authors： Syvänen AC,Ikonen E,Manninen T,Bengtström M,Söderlund H,Aula P,Peltonen L

更新日期：1992-03-01 00:00:00

abstract：:Cytogenetic studies of banded chromosomes and fluorescence in situ hybridization (FISH) of several yeast artificial chromosomes (YACs) that are part of a 128-kb resolution physical map of a portion of 12q13 revealed that 4/14 (28%) lipomas have breakpoints in 12q13. These breakpoints are more than 10 Mb away from the ...

journal_title：Genomics

authors： Merscher S,Marondel I,Pedeutour F,Gaudray P,Kucherlapati R,Turc-Carel C

更新日期：1997-11-15 00:00:00

abstract：:The AZ1 protein is localized to the preacrosome region of spermatids. Previous developmental studies suggested that AZ1 gene transcription begins in pachytene spermatocytes and that expression of the gene is induced in cultivated fibroblasts on treatment with 5-azacytidine, which is known to lead to the demethylation ...

journal_title：Genomics

authors： Aoto H,Miyake Y,Nakamura M,Tajima S

更新日期：1997-02-15 00:00:00

abstract：:Variation at MHC Class II-DQA locus in riverine and swamp buffaloes (Bubu) has been explored in this study. Through sequencing of buffalo DQA, 48 nucleotide variants identified from 17 individuals, reporting 42 novel alleles, including one pseudogene. Individual animal displayed two to seven variants, suggesting the p...

journal_title：Genomics

authors： Mishra SK,Niranjan SK,Singh R,Kumar P,Kumar SL,Banerjee B,Kataria RS

更新日期：2020-11-01 00:00:00

abstract：:A genome-wide view of sequence mutability in mice is still limited, although biologists usually assume the same scenario for mice as for humans. In this study, we examined the sequence context in the local environment of 482,528 mouse single nucleotide polymorphisms (SNPs). We found that CpG-containing short sequences...

journal_title：Genomics

authors： Zhao Z,Zhang F

更新日期：2006-01-01 00:00:00

abstract：:Differential epigenetic modification by methylation of CpG dinucleotides is a candidate mechanism that may identify the alleles of imprinted genes and result in monoallelic expression of either the maternal or the paternal allele. Determination of the allelic methylation status of imprinted genes in the gametes and du...

journal_title：Genomics

authors： McDonald LE,Paterson CA,Kay GF

更新日期：1998-12-15 00:00:00

abstract：:In this investigation, whole-genome identification and functional characterization of the cotton dehydrin genes was carried out. A total of 16, 7, and 7 dehydrin proteins were identified in G. hirsutum, G. arboreum and G. raimondii, respectively. Through RNA sequence data and RT-qPCR validation, Gh_A05G1554 (GhDHN_03)...

journal_title：Genomics

authors： Kirungu JN,Magwanga RO,Pu L,Cai X,Xu Y,Hou Y,Zhou Y,Cai Y,Hao F,Zhou Z,Wang K,Liu F

更新日期：2020-03-01 00:00:00

abstract：:Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs. A major locus (SPG4) causing AD-HSP in about 40% of the families was mapped to chromosome 2p. The analysis of six SPG4-linked AD-HSP families using the RED proce...

journal_title：Genomics

authors： Hazan J,Davoine CS,Mavel D,Fonknechten N,Paternotte C,Fizames C,Cruaud C,Samson D,Muselet D,Vega-Czarny N,Brice A,Gyapay G,Heilig R,Fontaine B,Weissenbach J

更新日期：1999-09-15 00:00:00

abstract：:We have constructed a 1-Mb contig in human chromosomal band 11p15.5, a region implicated in the etiology of several embryonal tumors, including Wilms tumor, and in Beckwith-Wiedemann syndrome. Cosmid, P1, PAC, and BAC clones were characterized by NotI/SalI digestion and hybridized to a variety of probes to generate a ...

journal_title：Genomics

authors： Reid LH,Davies C,Cooper PR,Crider-Miller SJ,Sait SN,Nowak NJ,Evans G,Stanbridge EJ,deJong P,Shows TB,Weissman BE,Higgins MJ

更新日期：1997-08-01 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：:Overlapping DNA fragments spanning approximately 21 kb of genomic DNA and encompassing the human 4-hydroxyphenylpyruvate dioxygenase gene (HPD) have been cloned by screening a human leukocyte genomic library and by PCR amplification of human fibroblastic DNA. A continuous gene sequence of 20,890 nucleotides was establ...

journal_title：Genomics

authors： Rüetschi U,Rymo L,Lindstedt S

更新日期：1997-09-15 00:00:00

abstract：:Type A receptors of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, contain alpha, beta, delta, gamma, and rho subunits. The gamma subunit has four subtypes: gamma1, gamma2, gamma3, andgamma4. GABA(A) receptor-associated protein (GABARAP) was previously demonstrated to act as a linker protein between m...

journal_title：Genomics

authors： Xin Y,Yu L,Chen Z,Zheng L,Fu Q,Jiang J,Zhang P,Gong R,Zhao S

更新日期：2001-06-15 00:00:00