Next generation sequencing identifies abnormal Y chromosome and candidate causal variants in premature ovarian failure patients.

abstract：:One hundred nineteen YACs were assembled into 6 contigs spanning about 7.1 Mb of Xq28. The contigs were formatted with 65 STSs and 136 hybridization probes and were extensive enough to be aligned and oriented by published genetic linkage and somatic cell hybrid panel data. Selected YACs from the entire region were map...

journal_title：Genomics

authors： Palmieri G,Romano G,Ciccodicola A,Casamassimi A,Campanile C,Esposito T,Cappa V,Lania A,Johnson S,Reinbold R

更新日期：1994-11-01 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：: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：: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：: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：:The present investigation was focused to study genomic diversity of Indian swamp buffalo populations through reduced representation approach (ddRAD). The heterozygosity (FST) among the swamp buffaloes was 0.11 between Assam and Manipuri; 0.20 between swamp (Manipuri) and riverine buffaloes; 0.30 between swamp (Manipur...

journal_title：Genomics

authors： Ravi Kumar D,Joel Devadasan M,Surya T,Vineeth MR,Choudhary A,Sivalingam J,Kataria RS,Niranjan SK,Tantia MS,Verma A

更新日期：2020-05-01 00:00:00

abstract：:We conducted a comprehensive analysis of codon usage bias (CUB) based on the available non-redundant full-length cDNA (nrFLcDNA) and expressed sequence tags (ESTs) data of cultivar Micro-Tom and evaluated the associations of observed CUB and measurements of transcriptional and translational effectiveness. The analysis...

journal_title：Genomics

authors： Sablok G,Wu X,Kuo J,Nayak KC,Baev V,Varotto C,Zhou F

更新日期：2013-05-01 00:00:00

abstract：:Erythrocyte surface protein band 3 (EPB3) plays an important role in CO2 transport in the blood. We have isolated a recombinant lambda bacteriophage that contains coding sequence for the human gene. Sequence analysis demonstrated that the human insert contains a portion of exon 13. A 1.1-kb BamHI fragment revealed a t...

journal_title：Genomics

authors： Stewart EA,Kopito R,Bowcock AM

更新日期：1989-10-01 00:00:00

abstract：:We have constructed a long-range contig of cosmid and YAC clones around D10S102, a locus that is tightly linked to the gene responsible for multiple endocrine neoplasia type 2A (MEN2A). With D10S102 as a starting point, a 360-kb cosmid contig was constructed by bidirectional genomic walking, and at least six fragments...

journal_title：Genomics

authors： Tokino T,Imai T,Tanigami A,Takiguchi S,Nakamura Y

更新日期：1992-02-01 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：:Using library to library cross-screening we have identified a number of genomic clones that harbor X-linked sequences expressed in the human choroid/retina. We describe the characterization of one of these, designated XEH.8 (DXS542), which is localized to Xp11.3-q12. Isolation, partial sequencing, and Northern analysi...

journal_title：Genomics

authors： Wong P,MacDonald IM,Sood R,Smith C,Pilon R,Tenniswood M

更新日期：1993-03-01 00:00:00

abstract：:Physical activity enhances muscle mitochondrial gene expression, while inactivity and mitochondrial dysfunction are both risk factors for developing diabetes. Defective activation of the transcriptional coactivator PGC-1alpha may contribute to the gene expression pattern observed in diabetic and insulin-resistant skel...

journal_title：Genomics

authors： Timmons JA,Norrbom J,Schéele C,Thonberg H,Wahlestedt C,Tesch P

更新日期：2006-01-01 00:00:00

abstract：:Given the vast amount of genomic data, alignment-free sequence comparison methods are required due to their low computational complexity. k-mer based methods can improve comparison accuracy by extracting an effective feature of the genome sequences. The aim of this paper is to extract k-mer intervals of a sequence as ...

journal_title：Genomics

authors： Han GB,Cho DH

更新日期：2019-12-01 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：: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：:Microsatellite repeat loci can provide informative markers for genetic linkage. Currently, the human chromosome 2 genetic linkage map has very few highly polymorphic markers. Being such a large chromosome, it will require a large number of informative markers for the dense coverage desired to allow disease genes to be...

journal_title：Genomics

authors： Todd S,Sherman SL,Naylor SL

更新日期：1993-06-01 00:00:00

abstract：:BRF1 (Butyrate response factor 1) is a member of an immediate early gene family specifying putative nuclear transcription factors. A repeat motif incorporating two Cys and two His is highly conserved between family members identified from yeast, Drosophila, mouse, rat, and human. The chromosome localization of none of...

journal_title：Genomics

authors： Maclean KN,See CG,McKay IA,Bustin SA

更新日期：1995-11-01 00:00:00

abstract：:This work describes a novel method, multiplex solid-phase fluorescent minisequencing, for the simultaneous detection of several point mutations and/or small deletions and insertions. The method is applied to the analysis of mitochondrial DNA polymorphisms for the purposes of individual identification. A database of 15...

journal_title：Genomics

authors： Tully G,Sullivan KM,Nixon P,Stones RE,Gill P

更新日期：1996-05-15 00:00:00

abstract：:In this paper we describe a method that uses the nearly covalent strength biotin-streptavidin interaction to attach a paramagnetic bead of micrometer size to a DNA molecule of nanometer size, scaling up the spatial size of a query DNA strand by a factor of 1000, making it visible to the human eye. The use of magnetic ...

journal_title：Genomics

authors： Ståhl PL,Gantelius J,Natanaelsson C,Ahmadian A,Andersson-Svahn H,Lundeberg J

更新日期：2007-12-01 00:00:00

abstract：:Understanding patterns of linkage disequilibrium (LD) across genomes may facilitate association mapping studies to localize genetic variants influencing complex diseases, a recognition that led to the International Haplotype Mapping Project (HapMap). Divergent patterns of haplotype frequency and LD across global popul...

journal_title：Genomics

authors： Kim KJ,Lee HJ,Park MH,Cha SH,Kim KS,Kim HT,Kimm K,Oh B,Lee JY

更新日期：2006-11-01 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：:During the course of systematic sequence tag analysis of clones isolated from an adult testis cDNA library, clones 296 and 576 were found to detect 71-74% sequence identity to the guinea pig sperm surface protein PH-20. This surface protein is involved in sperm-egg adhesion in the guinea pig. Nucleotide sequence for 1...

journal_title：Genomics

authors： Jones MH,Davey PM,Aplin H,Affara NA

更新日期：1995-10-10 00:00:00

abstract：:Human myosin light chain-2 (MYL2) is an important protein involved in the regulation of myosin ATPase activity in smooth muscle. In cardiac muscle, the precise role of MYL2 is not well understood; however, an increase in ventricular MYL2 is observed during myocardial hypertrophy in cardiac patients with valve stenosis...

journal_title：Genomics

authors： Macera MJ,Szabo P,Wadgaonkar R,Siddiqui MA,Verma RS

更新日期：1992-07-01 00:00:00

abstract：:The DBA/2J inbred strain of mice is used extensively in hearing research, yet little is known about the genetic basis for its early onset, progressive hearing loss. To map underlying genetic factors we analyzed recombinant inbred strains and linkage backcrosses. Analysis of 213 mice from 31 BXD recombinant inbred stra...

journal_title：Genomics

authors： Johnson KR,Longo-Guess C,Gagnon LH,Yu H,Zheng QY

更新日期：2008-10-01 00:00:00

abstract：:The human HYAL2 gene encodes a lysosomal hyaluronidase that is related to the testicular PH-20 hyaluronidase. Regions conserved in these proteins have been used to design PCR primers suitable for the isolation of a fragment of the murine Hyal2 gene. This fragment was used to isolate the Hyal2 cDNA from a cDNA library....

journal_title：Genomics

authors： Strobl B,Wechselberger C,Beier DR,Lepperdinger G

更新日期：1998-10-15 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：:Chemotherapeutic response of cancer cells to a given compound is one of the most fundamental information one requires to design anti-cancer drugs. Recently, considerable amount of drug-induced gene expression data has become publicly available, in addition to cytotoxicity databases. These large sets of data provided a...

journal_title：Genomics

authors： Tan M,Özgül OF,Bardak B,Ekşioğlu I,Sabuncuoğlu S

更新日期：2019-09-01 00:00:00

abstract：:The lack of physical mapping data strongly restricts the analysis of the meningioma chromosomal region that was assigned to the bands 22q12.3-qter. Recently, we reported a new marker D22S16 for chromosome 22 that was assigned to the region 22q13-qter by in situ hybridization. Utilizing somatic cell hybrids we now subl...

journal_title：Genomics

authors： Herzog R,Gottert E,Henn W,Zang K,Blin N,Trent J,Meese E

更新日期：1991-08-01 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：:The APETALA2/ethylene-responsive factor (AP2/ERF) has important roles in regulating developmental processes and hormone signaling transduction in plants. Pineapple demonstrates a special sensitivity to ethylene, and AP2/ERFs may contribute to this distinct sensitivity of pineapples to ethylene. However, little informa...

journal_title：Genomics

authors： Zhang H,Pan X,Liu S,Lin W,Li Y,Zhang X

更新日期：2021-01-20 00:00:00