Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene.

abstract：:Vertebrate tissue inhibitors of metalloproteinases (TIMPs) regulate extracellular matrix metalloproteinases and are thus involved in a wide variety of developmental and physiological processes. By identifying cDNAs of a transcript detected within an intron of the Drosophila synapsin gene we have cloned the Drosophila ...

journal_title：Genomics

authors： Pohar N,Godenschwege TA,Buchner E

更新日期：1999-04-15 00:00:00

abstract：OBJECTIVE:Cytokines strongly induce expression of the inducible nitric oxide synthase (iNOS) in rodent but not in human endothelial cells. We recently identified NOS2 as a potential target of the histone methyltransferase enhancer of zeste homolog 2 which mediates trimethylation of histone 3 at lysine 27 (H3K27me3). M...

journal_title：Genomics

authors： Dreger H,Ludwig A,Weller A,Baumann G,Stangl V,Stangl K

更新日期：2016-04-01 00:00:00

abstract：:The acyl-CoA dehydrogenases (ACDs) are a family of mitochondrial enzymes that oxidize straight chain or branched chain acyl-CoAs in the metabolism of fatty acids or branched chain amino acids. Deficiencies in members of this gene family are important causes of human disease. A cDNA encoding the human precursor for a n...

journal_title：Genomics

authors： Rozen R,Vockley J,Zhou L,Milos R,Willard J,Fu K,Vicanek C,Low-Nang L,Torban E,Fournier B

更新日期：1994-11-15 00:00:00

abstract：:The cerebral cortex is a tissue with a high degree of neuronal diversity. It consists of six cell layers with a unique set of neuronal subtypes. A crucial step in the process of cortical differentiation is the transition from a mitotically active neuroblast to a postmitotic young neuron. To identify genes involved in ...

journal_title：Genomics

authors： Britanova O,Lukyanov S,Gruss P,Tarabykin V

更新日期：2002-07-01 00:00:00

abstract：:An autosomal dominant retinal degeneration, called Rd4, was found in a stock carrying the inversion In(4)56Rk, which was induced in a DBA/2J male. The inversion encompasses nearly all of Chromosome 4. It is homozygous lethal and in heterozygotes is always associated with retinal degeneration. In affected mice, the ret...

journal_title：Genomics

authors： Roderick TH,Chang B,Hawes NL,Heckenlively JR

更新日期：1997-06-15 00:00:00

abstract：:We describe an improved method for construction of yeast artificial-chromosome (YAC) libraries that contain large inserts of foreign DNA. The procedure consists of seven steps: (i) preparation of human DNA in agarose beads; (ii) partial digestion of the DNA with EcoRI; (iii) electrophoretic elimination of the smaller ...

journal_title：Genomics

authors： Imai T,Olson MV

更新日期：1990-10-01 00:00:00

abstract：:A gene for the autosomal recessive kidney disorder juvenile nephronophthisis (NPH) is located on chromosome 2q between markers D2S1893 and D2S1888. Recently, the presence of large homozygous deletions was described in the majority of NPH patients. We constructed an integrated YAC/PAC contig of 54 markers and 30 PAC cl...

journal_title：Genomics

authors： Nothwang HG,Stubanus M,Adolphs J,Hanusch H,Vossmerbäumer U,Denich D,Kübler M,Mincheva A,Lichter P,Hildebrandt F

更新日期：1998-01-15 00:00:00

abstract：:The presence of an extra copy of human chromosome 21 (trisomy 21), especially region 21q22.2, causes many phenotypes in Down syndrome, including mental retardation. To study genes potentially responsible for some of these phenotypes, we cloned a human candidate gene (DYRK) from 21q22.2 and its murine counterpart (Dyrk...

journal_title：Genomics

authors： Song WJ,Sternberg LR,Kasten-Sportès C,Keuren ML,Chung SH,Slack AC,Miller DE,Glover TW,Chiang PW,Lou L,Kurnit DM

更新日期：1996-12-15 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：:Cri-du-chat is a chromosomal deletion syndrome characterized by partial deletion of the short arm of chromosome 5. The clinical symptoms include growth and mental retardation, microcephaly, hypertelorism, epicanthal folds, hypotonia, and a high-pitched monochromatic cry that is usually considered diagnostic for the sy...

journal_title：Genomics

authors： Goodart SA,Simmons AD,Grady D,Rojas K,Moyzis RK,Lovett M,Overhauser J

更新日期：1994-11-01 00:00:00

abstract：:DNA primase is an essential replication protein that catalyzes the synthesis of oligoribonucleotide primers. DNA primase, consisting of two subunits (p49 and p58), plays a key role in both the initiation of DNA replication and the synthesis of Okazaki fragments for lagging strand synthesis. We mapped the locations of ...

journal_title：Genomics

authors： Shiratori A,Okumura K,Nogami M,Taguchi H,Onozaki T,Inoue T,Ando T,Shibata T,Izumi M,Miyazawa H

更新日期：1995-07-20 00:00:00

abstract：:It is hypothesized that autosomal retroposons compensate for the loss of their inactivated essential X-chromosome progenitors during spermatogenesis. Here we test this Retroposon Compensatory Mechanism (RCM) hypothesis using the Zfy gene family. The mouse autosomal retroposon Zfa is expressed in testes at the same dev...

journal_title：Genomics

authors： Banks KG,Johnson KA,Lerner CP,Mahaffey CL,Bronson RT,Simpson EM

更新日期：2003-09-01 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 molecular mechanisms of action of a HIV protease inhibitor, ritonavir, on hepatic function were explored on a genomic scale using microarrays comprising genes expressed in the liver of Sprague-Dawley rats (Rattus norvegicus). Analyses of hepatic transcriptional fingerprints led to the identification of several key...

journal_title：Genomics

authors： Lum PY,He YD,Slatter JG,Waring JF,Zelinsky N,Cavet G,Dai X,Fong O,Gum R,Jin L,Adamson GE,Roberts CJ,Olsen DB,Hazuda DJ,Ulrich RG

更新日期：2007-10-01 00:00:00

abstract：:Chromosome 11p13 is frequently rearranged in individuals with the WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) or parts of this syndrome. To map the cytogenetic aberrations molecularly, we screened DNA from cell lines with known WAGR-related chromosome abnormalities for rearra...

journal_title：Genomics

authors： Gessler M,Bruns GA

更新日期：1988-08-01 00:00:00

abstract：:The genome sequence of Mycobacterium tuberculosis strain H37Rv is an important and valuable reference point in the study of M. tuberculosis phylogeny, molecular epidemiology, and drug-resistance mutations. However, it is becoming apparent that use of H37Rv as a sole reference genome in analysing clinical isolates pres...

journal_title：Genomics

authors： O'Toole RF,Gautam SS

更新日期：2017-10-01 00:00:00

abstract：:Protease nexin I (PNI) is the most important physiologic regulator of alpha-thrombin in tissues. PNI is highly expressed and developmentally regulated in the nervous system where it is concentrated at neuromuscular junctions and also central synapses in the hippocampus and striatum. Approximately 10% of identified pro...

journal_title：Genomics

authors： Carter RE,Cerosaletti KM,Burkin DJ,Fournier RE,Jones C,Greenberg BD,Citron BA,Festoff BW

更新日期：1995-05-01 00:00:00

abstract：:Thirteen moderately to highly informative microsatellite DNA polymorphisms based on (dC-dA)n.(dG-dT)n repeats were mapped to segments of human chromosome 5 using both linkage analysis and a panel of somatic cell hybrids which contained rearranged chromosomes. The markers were distributed throughout most of the length ...

journal_title：Genomics

authors： Weber JL,Polymeropoulos MH,May PE,Kwitek AE,Xiao H,McPherson JD,Wasmuth JJ

更新日期：1991-11-01 00:00:00

abstract：:Intercellular adhesion molecule-1 (ICAM-1, CD54) is a cell adhesion molecule that interacts with the leukocyte beta 2 integrins, LFA-1 and Mac-1. Murine inflammatory models are being utilized increasingly to define the role that ICAM-1 induction plays in the initiation of inflammation. We have isolated murine genomic ...

journal_title：Genomics

authors： Ballantyne CM,Sligh JE Jr,Dai XY,Beaudet AL

更新日期：1992-12-01 00:00:00

abstract：:The proximal end of mouse chromosome (Chr) 13 contains regions conserved on human chromosomes 1q42-q44, 6p23-p21, and 7p22-p13. This region also contains mutations that may be models for human disease, including beige (human Chediak-Higashi syndrome). An interspecific backcross of SB/Le and Mus spretus mice was used t...

journal_title：Genomics

authors： Perou CM,Perchellet A,Jago T,Pryor R,Kaplan J,Justice MJ

更新日期：1997-01-15 00:00:00

abstract：:The v-ets oncogene family shares a conserved peptide motif called the ETS domain that mediates sequence-specific DNA binding. This motif is unique among transcription factor families. Using partially degenerate oligonucleotides from conserved regions of the ETS domain and the polymerase chain reaction, we isolated a n...

journal_title：Genomics

authors： Klemsz M,Hromas R,Raskind W,Bruno E,Hoffman R

更新日期：1994-03-15 00:00:00

abstract：:The AFLP technique is a new DNA marker technology based on the selective amplification of restriction fragments. Multiple polymorphic markers are simultaneously produced and can be tested in one PCR. No prior information on genomic DNA sequences is needed. In the current study, we contribute 18 AFLP markers to the lin...

journal_title：Genomics

authors： Otsen M,den Bieman M,Kuiper MT,Pravenec M,Kren V,Kurtz TW,Jacob HJ,Lankhorst A,van Zutphen BF

更新日期：1996-11-01 00:00:00

abstract：:The search for the gene for choroideremia (MIM 30310), a rare retinal dystrophy, has been of great interest due to the existence of several choroideremia patients with well-defined structural chromosome aberrations, thus providing the basis for a reverse genetics approach to the isolation of this disease gene. This re...

journal_title：Genomics

authors： Merry DE,Lesko JG,Siu V,Flintoff WF,Collins F,Lewis RA,Nussbaum RL

更新日期：1990-04-01 00:00:00

abstract：:An area of 500 kb at the proximal end of the polycystic kidney disease 1 (PKD1) region has been mapped in detail, with 260 kb cloned in cosmids. The area cloned from normal individuals contains two homologous but divergent regions each of 75 kb, including the previously described marker 26-6. Pulsed-field gel electrop...

journal_title：Genomics

authors： Harris PC,Thomas S,MacCarthy AB,Stallings RL,Breuning MH,Jenne DE,Fink TM,Buckle VJ,Ratcliffe PJ,Ward CJ

更新日期：1994-09-15 00:00:00

abstract：:Thirty-five new, unique, DNA probes have been isolated and each has been assigned to one of five regions on chromosome 22. The distribution of probes along the chromosome is what would be expected based on the estimated size of each region with the exception of the short arm (22p). RFLP analysis was performed using 13...

journal_title：Genomics

authors： Budarf ML,McDermid HE,Sellinger B,Emanuel BS

更新日期：1991-08-01 00:00:00

abstract：:We have isolated cDNA clones that code for human cytochrome b5. Owing to the high degree of evolutionary conservation of cytochrome b5 sequences and the existence of human and rodent cytochrome b5 processed pseudogenes, we were unable to map unambiguously the chromosomal localization of the human gene(s) by Southern b...

journal_title：Genomics

authors： Shephard EA,Povey S,Spurr NK,Phillips IR

更新日期：1991-10-01 00:00:00

abstract：:Deficiency of the lysosomal enzyme, N-acetylgalactosamine 6-sulfatase (GALNS;EC 3.1.6.4), results in the storage of the glycosaminoglycans, keratan sulfate and chondroitin 6-sulfate, which leads to the lysosomal storage disorder Morquio A syndrome. Four overlapping genomic clones derived from a chromosome 16-specific ...

journal_title：Genomics

authors： Morris CP,Guo XH,Apostolou S,Hopwood JJ,Scott HS

更新日期：1994-08-01 00:00:00

abstract：:We have integrated genetic and physical mapping data for chromosome 17 subdivided into 26 bins, by using a panel of chromosome 17 deletion somatic cell hybrids. One hundred four short tandem repeat and STS markers have been localized into these bins and have enabled the ordering of 288 ESTs and 26 genes, including 142...

journal_title：Genomics

authors： Plummer SJ,Simmons JA,Adams L,Casey G

更新日期：1997-10-01 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：:Sulfonation is an important pathway in the biotransformation of many drugs, xenobiotics, neurotransmitters, and steroid hormones. The thermostable (TS) form of phenol sulfotransferase (PST) preferentially catalyzes the sulfonation of "simple" planar phenols, and levels of activity of TS PST in human tissues are contro...

journal_title：Genomics

authors： Her C,Raftogianis R,Weinshilboum RM

更新日期：1996-05-01 00:00:00