abstract：:The NFAR gene (nuclear factor associated with dsRNA) encodes a putative transcription-associated factor that we have shown is a substrate for the interferon-inducible, dsRNA-dependent protein kinase, PKR. However, our protein expression analysis has revealed that NFAR exists as two major protein species of 90 kDa (NFA...

journal_title：Genomics

authors： Saunders LR,Jurecic V,Barber GN

更新日期：2001-01-15 00:00:00

abstract：:While scanning for single-nucleotide polymorphisms (SNPs) in the human Xq25-q28 region of CEPH families, we found six long "deserts" of low SNP incidence representing 28% of the investigated genome. One was 1.66 Mb in length. To determine whether these SNP deserts were due to reduced input of mutations or to recent co...

journal_title：Genomics

authors： Miller RD,Taillon-Miller P,Kwok PY

更新日期：2001-01-01 00:00:00

abstract：:As the exponential growth of DNA sequence information in databases continues, the task of converting this deposited information into knowledge becomes more dependent on integrative sequence analysis and visualization tools. PANORAMA is an Internet-accessible software package that performs a variety of informatics anal...

journal_title：Genomics

authors： Pertsemlidis A,Pande A,Miller B,Schilling P,Wei MH,Lerman MI,Minna JD,Garner HR,Mittelman D

更新日期：2000-12-15 00:00:00

abstract：:Evi9, a common site of retroviral integration in BXH2 murine myeloid leukemias, encodes a C2H2 zinc finger protein and is overexpressed in these leukemic cells. To investigate a possible role of EVI9 in the human hematopoietic system, we isolated the cDNA clone of the human homologue. Human EVI9, located on the chromo...

journal_title：Genomics

authors： Saiki Y,Yamazaki Y,Yoshida M,Katoh O,Nakamura T

更新日期：2000-12-15 00:00:00

abstract：:Uroporphyrinogen-III (URO) synthase is the heme biosynthetic enzyme defective in congenital erythropoietic porphyria. The approximately 34-kb human URO-synthase gene (UROS) was isolated, and its organization and tissue-specific expression were determined. The gene had two promoters that generated housekeeping and eryt...

journal_title：Genomics

authors： Aizencang G,Solis C,Bishop DF,Warner C,Desnick RJ

更新日期：2000-12-01 00:00:00

abstract：:The T-box is a strongly conserved protein domain, 174 to 186 amino acids in length, that binds DNA. Many genes from many species have been shown to encode T-box domain-containing proteins. Here we report the cloning and characterization of a novel T-box gene, TBX21. The human cDNA contains an open reading frame encodi...

journal_title：Genomics

authors： Zhang WX,Yang SY

更新日期：2000-11-15 00:00:00

abstract：:The adrenoleukodystrophy-related gene (ALDR, ABCD2) is a candidate modifier gene and a potential therapeutic target for X-linked adrenoleukodystrophy (ALD), a severe neurodegenerative disease. The ALDR gene is the closest homologue of the ALD gene, which encodes a peroxisomal ABC transporter involved in the catabolism...

journal_title：Genomics

authors： Pujol A,Troffer-Charlier N,Metzger E,Chimini G,Mandel JL

更新日期：2000-11-15 00:00:00

abstract：:We have identified a novel human gene, designated C1orf10, using modified differential display PCR. The C1orf10 gene, which spans 5 kb in length, is composed of three exons. The deduced protein contains 495 amino acids with one transmembrane domain. The amino acid sequence of C1orf10 is characterized by the presence o...

journal_title：Genomics

authors： Xu Z,Wang MR,Xu X,Cai Y,Han YL,Wu KM,Wang J,Chen BS,Wang XQ,Wu M

更新日期：2000-11-01 00:00:00

abstract：:We investigated a family with a duplication, dup(X)q26-q27, that was present in two brothers, their mother, and their maternal grandmother. The brothers carrying the duplication displayed spina bifida and panhypopituitarism, whereas a third healthy brother inherited the normal X chromosome. Preferential inactivation o...

journal_title：Genomics

authors： Hol FA,Schepens MT,van Beersum SE,Redolfi E,Affer M,Vezzoni P,Hamel BC,Karnes PS,Mariman EC,Zucchi I

更新日期：2000-10-15 00:00:00

abstract：:LRP1B is a novel candidate tumor suppressor gene that is inactivated by genetic and transcript alterations in nearly 50% of non-small-cell lung cancer cell lines. The gene-encoded protein is highly homologous to the gigantic lipoprotein receptor-related protein 1 (LRP1) that belongs to the family of low-density lipopr...

journal_title：Genomics

authors： Liu CX,Musco S,Lisitsina NM,Yaklichkin SY,Lisitsyn NA

更新日期：2000-10-15 00:00:00

abstract：:Williams-Beuren syndrome (WBS) is a developmental disorder caused by haploinsufficiency for genes deleted in chromosome band 7q11.23. A common deletion including at least 16-17 genes has been defined in the great majority of patients. We have completed a physical and transcription map of the WBS region based on analys...

journal_title：Genomics

authors： Valero MC,de Luis O,Cruces J,Pérez Jurado LA

更新日期：2000-10-01 00:00:00

abstract：:The SH2 domain containing inositol 5'-phosphatase (SHIP) was initially described as a 145-kDa protein phosphorylated on tyrosines upon growth factor and cytokine stimulation. It was shown to be phosphorylated after Fc and B cell receptor activation and plays a role in negative signaling. Different isoforms of the SHIP...

journal_title：Genomics

authors： Wolf I,Lucas DM,Algate PA,Rohrschneider LR

更新日期：2000-10-01 00:00:00

abstract：:Full-length coding sequences of two novel human cadherin cDNAs were obtained by sequence analysis of several EST clones and 5' and 3' rapid amplification of cDNA ends (RACE) products. Exons for a third cDNA sequence were identified in a public-domain human genomic sequence, and the coding sequence was completed by 3' ...

journal_title：Genomics

authors： Kools P,Van Imschoot G,van Roy F

更新日期：2000-09-15 00:00:00

abstract：:Glomerulopathy with fibronectin deposits (GFND, MIM 601894) is an autosomal dominant kidney disease that leads to terminal renal failure at a median age of 47 years. It represents a distinct entity of membranoproliferative glomerulonephritis (MPGN) type III and is characterized by the unique feature of massive glomeru...

journal_title：Genomics

authors： Vollmer M,Kremer M,Ruf R,Miot S,Nothwang HG,Wirth J,Otto E,Krapf R,Hildebrandt F

更新日期：2000-09-01 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：:The gene encoding activation-induced cytidine deaminase (AID), a member of the cytidine deaminase family, was isolated from a murine B cell lymphoma line, CH12F3-2, induced by combined stimulation of TGF-beta, IL-4, and CD40L. We have isolated the human orthologue of mouse AID cDNA, which has an open reading frame of ...

journal_title：Genomics

authors： Muto T,Muramatsu M,Taniwaki M,Kinoshita K,Honjo T

更新日期：2000-08-15 00:00:00

abstract：:The ST2 gene is a member of the IL-1 receptor family and is hypothesized to be involved in helper T cell function, but its functional ligand and physiological role remain unknown. We have cloned the human ST2L cDNA that encodes a distinct type of membrane-bound ST2 protein. The predicted 556-amino-acid sequence showed...

journal_title：Genomics

authors： Li H,Tago K,Io K,Kuroiwa K,Arai T,Iwahana H,Tominaga S,Yanagisawa K

更新日期：2000-08-01 00:00:00

abstract：:Mutations in the DKC1 gene are responsible for causing X-linked recessive dyskeratosis congenita (DKC) and a more severe allelic variant of the disease, Hoyeraal-Hreidarsson syndrome. Both diseases are characterized by progressive and fatal bone marrow failure. The nucleolar protein dyskerin is the pseudouridine synth...

journal_title：Genomics

authors： Heiss NS,Bächner D,Salowsky R,Kolb A,Kioschis P,Poustka A

更新日期：2000-07-15 00:00:00

abstract：:Oncogenic hypophosphatemic osteomalacia (OHO) is characterized by a renal phosphate leak, hypophosphatemia, low-serum calcitriol (1,25-vitamin-D3), and abnormalities in skeletal mineralization. Resection of OHO tumors results in remission of the symptoms, and there is evidence that a circulating phosphaturic factor pl...

journal_title：Genomics

authors： Rowe PS,de Zoysa PA,Dong R,Wang HR,White KE,Econs MJ,Oudet CL

更新日期：2000-07-01 00:00:00

abstract：:Biologic effects of androgen on target cells are mediated in part by transcriptional regulation of androgen-regulated genes (ARGs) by androgen receptor. Using serial analysis of gene expression (SAGE), we have identified a comprehensive repertoire of ARGs in LNCaP cells. One of the SAGE-derived tags exhibiting homolog...

journal_title：Genomics

authors： Xu LL,Shanmugam N,Segawa T,Sesterhenn IA,McLeod DG,Moul JW,Srivastava S

更新日期：2000-06-15 00:00:00

abstract：:Childhood-onset asthma is frequently found in association with atopy. Although asthmatic children may develop IgE antibodies against variety of allergens, asthma is associated primarily with allergy to house-dust mites, molds, or other allergens. In this study, we conducted a genome-wide linkage search in 47 Japanese ...

journal_title：Genomics

authors： Yokouchi Y,Nukaga Y,Shibasaki M,Noguchi E,Kimura K,Ito S,Nishihara M,Yamakawa-Kobayashi K,Takeda K,Imoto N,Ichikawa K,Matsui A,Hamaguchi H,Arinami T

更新日期：2000-06-01 00:00:00

abstract：:Unbalanced chromosome translocations with breakpoints around 8p12, resulting in loss of distal 8p, are common in carcinomas. We have mapped the 8p12 breakpoints in three breast cancer cell lines, T-47D, MDA-MB-361, and ZR-75-1, using YACs and PACs between D8S540 and D8S255 by fluorescence in situ hybridization. All th...

journal_title：Genomics

authors： Courtay-Cahen C,Morris JS,Edwards PA

更新日期：2000-05-15 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：:The human DAZ (deleted in azoospermia) gene family on the Y chromosome and an autosomal DAZ-like gene, DAZL1, encode RNA-binding proteins that are expressed exclusively in germ cells. Their role in spermatogenesis is supported by their homology with a Drosophila male infertility gene boule and sterility of Daz11 knock...

journal_title：Genomics

authors： Tsui S,Dai T,Roettger S,Schempp W,Salido EC,Yen PH

更新日期：2000-05-01 00:00:00

abstract：:We developed a sequence-ready physical map of a part of human chromosome 12p12.3-p13.2 where the natural killer gene complex (NKC) is located. The NKC includes a cluster of genes with structure similar to that of the Ca(2+)-dependent lectin superfamily of glycoproteins that are expressed on the surface of most natural...

journal_title：Genomics

authors： Renedo M,Arce I,Montgomery K,Roda-Navarro P,Lee E,Kucherlapati R,Fernández-Ruiz E

更新日期：2000-04-15 00:00:00

abstract：:The large number of redundant sequences available in nucleotide databases provides a resource for the identification of polymorphisms. Expressed polymorphisms in X-linked genes can be used to determine the inactivation status of the genes, and polymorphisms in genes that are subject to inactivation can then be used as...

journal_title：Genomics

authors： Kutsche R,Brown CJ

更新日期：2000-04-01 00:00:00

abstract：:The rat diabetes susceptibility gene, Lyp or Lymphopenia, has been localized to RNO4. Proximal to Lyp are the genes caspase-2 (Casp2) and pancreatic trypsin 1 (Prss1), while neuropeptide Y (Npy) is the closest distally positioned gene. In human, the three genes are syntenic on HSA7, but they are not on a conserved seg...

journal_title：Genomics

authors： Hornum L,Markholst H

更新日期：2000-04-01 00:00:00

abstract：:The chromosomal abnormality represented by an isodicentric X chromosome [idic(X)(q13)] is associated with a subset of acute myeloid leukemia (AML) and preleukemia observed in elderly females. A previous study localized the breakpoints of two acquired isodicentric X chromosomes associated with myelodysplasia to a 450-k...

journal_title：Genomics

authors： McDonell N,Ramser J,Francis F,Vinet MC,Rider S,Sudbrak R,Riesselman L,Yaspo ML,Reinhardt R,Monaco AP,Ross F,Kahn A,Kearney L,Buckle V,Chelly J

更新日期：2000-03-15 00:00:00

abstract：:IB1/JIP-1 is a scaffold protein that regulates the c-Jun NH(2)-terminal kinase (JNK) signaling pathway, which is activated by environmental stresses and/or by treatment with proinflammatory cytokines including IL-1beta and TNF-alpha. The JNKs play an essential role in many biological processes, including the maturatio...

journal_title：Genomics

authors： Negri S,Oberson A,Steinmann M,Sauser C,Nicod P,Waeber G,Schorderet DF,Bonny C

更新日期：2000-03-15 00:00:00

abstract：:The two contiguous IGF2 (human insulin-like growth factor II) and H19 genes are reciprocally imprinted in both human and mouse. In most tissues, IGF2 is transcribed only from the paternal chromosome while H19 is transcribed only from the maternal allele. The presence of a differential methylation region (DMR) on the t...

journal_title：Genomics

authors： Vu TH,Li T,Nguyen D,Nguyen BT,Yao XM,Hu JF,Hoffman AR

更新日期：2000-03-01 00:00:00

abstract：:The Drosophila melanogaster small optic lobes gene (sol) is required for normal development of the neuropiles of the medulla and lobula complexes of the adult optic lobes. The predicted protein products of sol and its human homologue SOLH contain zinc-finger-like repeats, a calpain-like protease domain, and a C-termin...

journal_title：Genomics

authors： Kamei M,Webb GC,Heydon K,Hendry IA,Young IG,Campbell HD

更新日期：2000-02-15 00:00:00

abstract：:End sequences from bacterial artificial chromosomes (BACs) provide highly specific sequence markers in large-scale sequencing projects. To date, we have generated >300,000 end sequences from >186,000 human BAC clones with an average read length of >460 bp for a total of 141 Mb covering approximately 4.7% of the genome...

journal_title：Genomics

authors： Zhao S,Malek J,Mahairas G,Fu L,Nierman W,Venter JC,Adams MD

更新日期：2000-02-01 00:00:00

abstract：:Several projects have produced maps of the physical position of genes within the human genome, either on a genome-wide scale or of a more detailed subsection of a chromosome. However, these maps largely rely on the mapping of expressed sequences (cDNAs and ESTs) back onto physical maps by their localization onto speci...

journal_title：Genomics

authors： Hamshere M,Cross S,Daniels M,Lennon G,Brook JD

更新日期：2000-02-01 00:00:00

abstract：:The alpha-fetoprotein (AFP) gene is transcribed at high levels in the fetal liver and is repressed at birth, leading to low but detectable levels of AFP mRNA in the adult liver. This repression is regulated, in part, by a locus that is unlinked to AFP called Alpha-fetoprotein regulator 1 (Afr1). Previous studies showe...

journal_title：Genomics

authors： Peyton DK,Huang MC,Giglia MA,Hughes NK,Spear BT

更新日期：2000-01-15 00:00:00

abstract：:Homeodomain transcription factors control cell fates during the development of all animals. The paired-like subfamily of homeodomain proteins has been particularly implicated in ocular development in different species. In this paper we report the cDNA sequence, genomic structure, localization, and expression data of a...

journal_title：Genomics

authors： Semina EV,Mintz-Hittner HA,Murray JC

更新日期：2000-01-15 00:00:00

abstract：:Consecutive application of PCR and serial analysis of gene expression (SAGE) was used to generate a catalog of approximately 50, 000 SAGEtags from nine human oocytes. Matches for known genes were identified using the National Institutes of Health SAGEtag database. This database links directly to the UniGene database, ...

journal_title：Genomics

authors： Neilson L,Andalibi A,Kang D,Coutifaris C,Strauss JF 3rd,Stanton JA,Green DP

更新日期：2000-01-01 00:00:00

abstract：:SOX proteins are transcription factors that are characterized by a common DNA-binding motif known as the HMG domain. We describe the 5. 4-kb human SOX8 gene that codes for a 446-amino-acid protein and that is expressed strongly in brain and less abundantly in other tissues. SOX8 shows an overall identity of 47% to SOX...

journal_title：Genomics

authors： Pfeifer D,Poulat F,Holinski-Feder E,Kooy F,Scherer G

更新日期：2000-01-01 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 human XPF protein, an endonuclease subunit essential for DNA excision repair, may also function in homologous recombination. To investigate a possible link between mammalian XPF and recombination that occurs during meiosis, we isolated, characterized, and determined an expression profile for the mouse Xpf gene. Th...

journal_title：Genomics

authors： Shannon M,Lamerdin JE,Richardson L,McCutchen-Maloney SL,Hwang MH,Handel MA,Stubbs L,Thelen MP

更新日期：1999-12-15 00:00:00

abstract：:The genes encoding human U2 small nuclear RNA are arrayed in tandem (the RNU2 locus) and have undergone concerted evolution for >35 Myr. Tandem organization of repetitive sequences may facilitate recombination that underlies concerted evolution, but could risk instability. Since DNA methylation plays a crucial role in...

journal_title：Genomics

authors： Jiang C,Liao D

更新日期：1999-12-15 00:00:00