A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.

abstract：:Traditionally, somatic mutations are detected by examining DNA sequence. The maturity of sequencing technology has allowed researchers to screen for somatic mutations in the whole genome. Increasingly, researchers have become interested in identifying somatic mutations through RNAseq data. With this motivation, we eva...

journal_title：Genomics

authors： Sheng Q,Zhao S,Li CI,Shyr Y,Guo Y

更新日期：2016-05-01 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：:Reassociating double-stranded DNA from single-stranded components is necessary for many molecular genetics experiments. The choice of a DNA reassociation method is dictated by the complexity of the starting material. Reassociation of simple oligomers needs only slow cooling in an aqueous environment, whereas reanneali...

journal_title：Genomics

authors： Bruzel A,Cheung VG

更新日期：2006-02-01 00:00:00

abstract：:Co-expression networks may provide insights into the patterns of molecular interactions that underlie cellular processes. To obtain a better understanding of miRNA expression patterns in gastric adenocarcinoma and to provide markers that can be associated with histopathological findings, we performed weighted gene cor...

journal_title：Genomics

authors： Yepes S,López R,Andrade RE,Rodriguez-Urrego PA,López-Kleine L,Torres MM

更新日期：2016-08-01 00:00:00

abstract：:Sex determination in humans is mediated through the expression of a testis-determining gene on the Y chromosome. In humans, a candidate gene for the testis-determining factor (TDF) that encodes a protein with a putative DNA-binding motif and has been isolated is termed SRY. Here we describe an XY sex-reversed female w...

journal_title：Genomics

authors： McElreavey KD,Vilain E,Boucekkine C,Vidaud M,Jaubert F,Richaud F,Fellous M

更新日期：1992-07-01 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

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：:Forty-three sequences containing simple sequence repeats or microsatellites were generated from an M13 library of total genomic mouse DNA. These sequences were analyzed for size variation using the polymerase chain reaction and gel electrophoresis without the need for radiolabeling. Seventy-two percent of the sequence...

journal_title：Genomics

authors： Cornall RJ,Aitman TJ,Hearne CM,Todd JA

更新日期：1991-08-01 00:00:00

abstract：:We have mapped the mouse protein tyrosine phosphatase epsilon (PTP epsilon, gene symbol Ptpre) gene to the distal region of chromosome 7 by linkage analysis using two sets of multilocus genetic crosses. The human PTP epsilon gene (gene symbol PTPRE) was mapped to chromosome 10q26 by fluorescence in situ hybridization....

journal_title：Genomics

authors： Elson A,Kozak CA,Morton CC,Weremowicz S,Leder P

更新日期：1996-02-01 00:00:00

abstract：:Equine Cerebellar Abiotrophy (CA) is a neurological disease found in Arabian horses. CA is characterized by post-natal degeneration of the Purkinje cells of the cerebellum. Signs of CA include ataxia, head tremors, and a lack of balance equilibrium. We have discovered a linkage of the CA phenotype to a microsatellite ...

journal_title：Genomics

authors： Brault LS,Cooper CA,Famula TR,Murray JD,Penedo MC

更新日期：2011-02-01 00:00:00

abstract：:Proteins governing cell death form the basis of many normal processes and contribute to the pathogenesis of many diseases when dysregulated. Here we report the cloning of a novel human CED-4-like gene, CLAN, and several of its alternatively spliced isoforms. These caspase-associated recruitment domain (CARD)-containin...

journal_title：Genomics

authors： Damiano JS,Stehlik C,Pio F,Godzik A,Reed JC

更新日期：2001-07-01 00:00:00

abstract：:We have developed a high-information-content fingerprinting (HICF) system for bacterial artificial chromosome (BAC) clones using a Type IIS restriction endonuclease, HgaI, paired with a Type II restriction endonuclease, RsaI. In the method described, unknown five-base overhangs generated with HgaI are partially or ful...

journal_title：Genomics

authors： Ding Y,Johnson MD,Chen WQ,Wong D,Chen YJ,Benson SC,Lam JY,Kim YM,Shizuya H

更新日期：2001-06-01 00:00:00

abstract：:The WD-repeat protein family consists of a large group of structurally related yet functionally diverse proteins found predominantly in eukaryotic cells. These factors contain several (4-16) copies of a recognizable amino-acid sequence motif (the WD unit) thought to be organized into a "propeller-like" structure invol...

journal_title：Genomics

authors： Nal B,Mohr E,Silva MI,Tagett R,Navarro C,Carroll P,Depetris D,Verthuy C,Jordan BR,Ferrier P

更新日期：2002-01-01 00:00:00

abstract：:Members of the solute carrier family 25 (SLC25) are known to transport molecules over the mitochondrial membrane. In this paper we present 14 novel members of SLC25 family in human. These were provided with following gene symbols by the HGNC: SLC25A32, SLC25A33, SLC25A34, SLC25A35, SLC25A37, SLC25A38, SLC25A39, SLC25A...

journal_title：Genomics

authors： Haitina T,Lindblom J,Renström T,Fredriksson R

更新日期：2006-12-01 00:00:00

abstract：:Nineteen polymorphic lymphocyte proteins were previously detected by two-dimensional protein electrophoresis (2DE). In this report, we describe the genetic linkage mapping of six of these polymorphic proteins (PNIA1-PNIA6), the identification by genetic linkage of a seventh (glyoxalase 1 on 6p21), and support for the ...

journal_title：Genomics

authors： Goldman D,O'Brien SJ,Lucas-Derse S,Dean M

更新日期：1991-12-01 00:00:00

abstract：:Synucleins are a family of small intracellular proteins expressed mainly in the nervous system. The involvement of synucleins in neurodegeneration and malignancy has been demonstrated, but the physiological functions of these proteins remain elusive. Further studies including generation of animals with modified persyn...

journal_title：Genomics

authors： Alimova-Kost MV,Ninkina NN,Imreh S,Gnuchev NV,Adu J,Davies AM,Buchman VL

更新日期：1999-03-01 00:00:00

abstract：:Deletions giving rise to Duchenne muscular dystrophy (DMD) and the less severe Becker muscular dystrophy (BMD) occur in the same large gene on the short arm of the human X chromosome. We present a molecular mechanism to explain the clinical difference in severity between DMD and BMD patients who bear partial deletions...

journal_title：Genomics

authors： Monaco AP,Bertelson CJ,Liechti-Gallati S,Moser H,Kunkel LM

更新日期：1988-01-01 00:00:00

abstract：:Sarcoptes scabiei (Acari: Sarcoptidae) causes a common contagious skin disease that affects many mammals. Here, the complete mitochondrial genome of a mite, S. scabiei var. nyctereutis, from Japanese wild raccoon dogs was analyzed. The 13,837bp circular genome contained 13 protein-coding genes, two rRNA genes, and 22 ...

journal_title：Genomics

authors： Ueda T,Tarui H,Kido N,Imaizumi K,Hikosaka K,Abe T,Minegishi D,Tada Y,Nakagawa M,Tanaka S,Omiya T,Morikaku K,Kawahara M,Kikuchi-Ueda T,Akuta T,Ono Y

更新日期：2019-12-01 00:00:00

abstract：:Although 338 genetic loci and 1 or more candidate tumor suppressor genes have been assigned to chromosome 6, the physical and genetic map of this chromosome is at a very preliminary stage. In this study, we have performed subregional localization of 20 single-copy DNA sequences previously assigned to chromosome 6 usin...

journal_title：Genomics

authors： Rao PH,Murty VV,Gaidano G,Hauptschein R,Dalla-Favera R,Chaganti RS

更新日期：1993-05-01 00:00:00

abstract：:Genes playing essential roles in iron homeostasis have yet to be identified. We report the discovery of a strong candidate gene affecting iron homeostasis in two allelic anemia mouse mutants: hea (hereditary erythroblastic anemia) and fsn (flaky skin). To clone this novel gene positionally, we established a large back...

journal_title：Genomics

authors： White RA,McNulty SG,Nsumu NN,Boydston LA,Brewer BP,Shimizu K

更新日期：2005-03-01 00:00:00

abstract：:Physical maps are important resources both in sequencing and in functional analyses of large genomes. Global contig-building approaches are regarded to be more efficient relative to the cumulative outcome of scattered and more localized physical mapping studies accompanying positional cloning. This work is part of an ...

journal_title：Genomics

authors： Klysik J,Cai WW,Yang C,Bradley A

更新日期：1999-11-15 00:00:00

abstract：:DNA 5' to the human myelin basic protein (MBP) gene, mapped to 18q22----qter, is known to manifest multiallelic DNA length variation with heterozygosity of at least 45%. Isolation of genomic DNA containing the MBP gene first exon and its 5' flanking region reveals that this polymorphism arises from a 994-bp region of ...

journal_title：Genomics

authors： Boylan KB,Ayres TM,Popko B,Takahashi N,Hood LE,Prusiner SB

更新日期：1990-01-01 00:00:00

abstract：:Our previous genetic map for chromosome 17 has been expanded to include 72 loci defined by 90 RFLP markers and four microsatellite markers assayed by the polymerase chain reaction. Forty-one of these loci were ordered with odds greater than 1000:1 against local inversion, and the other 31 were ordered within 95% confi...

journal_title：Genomics

authors： O'Connell P,Plaetke R,Matsunami N,Odelberg S,Jorde L,Chance P,Leppert M,Lalouel JM,White R

更新日期：1993-01-01 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：:TR4 is a new member of the nuclear hormone receptor family. This receptor is highly conserved in rat and human, but an in-frame insertion of 19 amino acid residues in the amino-terminal (A/B) region was found in the human homolog, which we refer to as hTR4alpha1. By reverse transcription-PCR (RT-PCR) we have identifie...

journal_title：Genomics

authors： Yoshikawa T,DuPont BR,Leach RJ,Detera-Wadleigh SD

更新日期：1996-07-15 00:00:00

abstract：:A significant fraction of the human genome is composed of various types of transposable elements, which are divided into two broad classes based on their mehcanism of transposition: via an RNA intermediate (retroelements) or via a DNA intermediate (DNA transposons). The retroelements, which include endogenous retrovir...

journal_title：Genomics

authors： Hughes JF,Coffin JM

更新日期：2002-11-01 00:00:00

abstract：:The recent release of the domestic dog genome provides us with an ideal opportunity to investigate dog-specific genomic features. In this study, we performed a systematic analysis of CpG islands (CGIs), which are often considered gene markers, in the dog genome. Relative to the human and mouse genomes, the dog genome ...

journal_title：Genomics

authors： Han L,Zhao Z

更新日期：2009-08-01 00:00:00

abstract：:The nervous and immune systems share many functional and molecular similarities, including shared surface antigens, secretions of soluble factors, and cross-modulatory effects. We have identified previously a novel mRNA termed F5, which is expressed only in activated T lymphocytes and mature, postmitotic neurons. Tiss...

journal_title：Genomics

authors： Autieri MV,Kozak CA,Cohen JA,Prystowsky MB

更新日期：1995-01-01 00:00:00

abstract：:Authentic cDNAs encoding the activator protein for acid beta-glucosidase (EC3.2.1.45), co-beta-glucosidase, were cloned from the pCD and lambda gt11 human cDNA libraries. Initial screening with oligonucleotide mixtures encoding amino acid sequences of co-beta-glucosidase identified partial cDNAs which were used to obt...

journal_title：Genomics

authors： Rorman EG,Grabowski GA

更新日期：1989-10-01 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