Distinguishing between carrier and noncarrier embryos with the use of long-read sequencing in preimplantation genetic testing for reciprocal translocations.

abstract：:The E2F transcription factor plays an important regulatory role in cell proliferation, mediating the expression of genes whose products are essential for inducing resting cells to enter the cell cycle and synthesize DNA. To investigate the possible involvement of E2F in hematopoietic malignancies, we isolated genomic ...

journal_title：Genomics

authors： Saito M,Helin K,Valentine MB,Griffith BB,Willman CL,Harlow E,Look AT

更新日期：1995-01-01 00:00:00

abstract：:Identifying physiological and transcriptomic changes can provide insights into the effects of drier air humidity stress on plants. In this study, we selected 6-month-old seedlings of Pterocarya stenoptera as study materials and used physiological index detection and transcriptome sequencing to investigate the adaptati...

journal_title：Genomics

authors： Ye XF,Li Y,Liu HL,He YX

更新日期：2020-11-01 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：:We show a mute 9.1-kb gap in the human genome reference map, unraveled by RDA studies, to be a worldwide deletion/insertion polymorphism of stable type. The molecular and population data presented suggest its origin from a unique ancestral transposition event in chromosomal region 22q11.2, overlapping the IglambdaV ge...

journal_title：Genomics

authors： Robledo R,Orru S,Sidoti A,Muresu R,Esposito D,Grimaldi MC,Carcassi C,Rinaldi A,Bernini L,Contu L,Romani M,Roe B,Siniscalco M

更新日期：2002-12-01 00:00:00

abstract：:The human lymphoid cell activation antigen CD39 is a known E-type apyrase that hydrolyzes extracellular ATP and ADP, a function important in homotypic adhesion, platelet aggregation, and removal by activated lymphocytes of the lytic effect of ATP. The recently identified putative rat homologue of CD39L1 has been shown...

journal_title：Genomics

authors： Chadwick BP,Frischauf AM

更新日期：1998-06-15 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：:Imprinting is an epigenetic modification that is reprogrammed in the germ line and leads to the monoallelic expression of some genes. Imprinting involves DNA methylation. Maternal imprint is reset during oocyte growth and maturation. In vitro maturation (IVM) of oocytes may, therefore, interfere with imprint acquisiti...

journal_title：Genomics

authors： Borghol N,Lornage J,Blachère T,Sophie Garret A,Lefèvre A

更新日期：2006-03-01 00:00:00

abstract：:The majority of Williams-Beuren syndrome (WBS) patients have been shown to have a microdeletion within 7q11.2 including the elastin gene locus. The extent of these deletions has, however, not been well characterized. Thirty-five deletion patients were tested for all polymorphic markers in the 7q11.2 region bounding EL...

journal_title：Genomics

authors： Robinson WP,Waslynka J,Bernasconi F,Wang M,Clark S,Kotzot D,Schinzel A

更新日期：1996-05-15 00:00:00

abstract：:High liver iron content is a risk factor for developing hepatocellular carcinoma (HCC). However, HCC cells are always iron-poor. Therefore, an association between hepatocyte iron storage capacity and differentiation is suggested. To characterize biological processes involved in iron loading capacity, we used a cDNA mi...

journal_title：Genomics

authors： Troadec MB,Glaise D,Lamirault G,Le Cunff M,Guérin E,Le Meur N,Détivaud L,Zindy P,Leroyer P,Guisle I,Duval H,Gripon P,Théret N,Boudjema K,Guguen-Guillouzo C,Brissot P,Léger JJ,Loréal O

更新日期：2006-01-01 00:00:00

abstract：:The loci DNF15S1 and DNF15S2 are members of a small repetitive sequence family at discrete chromosomal locations, namely, 1p36 and 3p21, respectively. Studies of the structure, arrangement, and interrelations of the family suggest that the single copy on chromosome 3 is the original member and that this gave rise to t...

journal_title：Genomics

authors： Welch HM,Darby JK,Pilz AJ,Ko CM,Carritt B

更新日期：1989-10-01 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：:The pattern of linkage disequilibrium between a disease locus and a set of marker loci has been shown to be a useful tool for geneticists searching for disease genes. Several methods have been advanced to utilize the pairwise disequilibrium between the disease locus and each of a set of marker loci. However, none of t...

journal_title：Genomics

authors： Devlin B,Risch N,Roeder K

更新日期：1996-08-15 00:00:00

abstract：:We sequenced the mitogenomes of Astictopterus jama, Isoteinon lamprospilus and Notocrypta curvifascia to obtain further insight into the mitogenomic architecture evolution and performed phylogenetic reconstruction using 29 Hesperiidae mitogenome sequences. The complete mitogenome sequences of A. jama, I. lamprospilus ...

journal_title：Genomics

authors： Ma L,Liu F,Chiba H,Yuan X

更新日期：2020-01-01 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：: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：: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：:Fruit development and ripening are essential components of human and animal diets. Fruit ripening is also a vital plant trait for plant shelf life at the commercial level. In the present study, two apple cultivars, Hanfu wild (HC) and Hanfu mutant (HM), were employed for RNA-Sequencing (RNA-Seq) to explore the genes i...

journal_title：Genomics

authors： Nawaz I,Tariq R,Nazir T,Khan I,Basit A,Gul H,Anwar T,Awan SA,Bacha SAS,Zhang L,Zhang C,Cong P

更新日期：2020-09-20 00:00:00

abstract：:The myotonic dystrophy (DM) region has been recently shown to be bracketed by two key recombinant events. One recombinant occurs in a Dutch DM family, which maps the DM locus distal to the ERCC1 gene and D19S115 (pE0.8). The other recombinant event is in a French Canadian DM family, which maps DM proximal to D19S51 (p...

journal_title：Genomics

authors： Shutler G,Korneluk RG,Tsilfidis C,Mahadevan M,Bailly J,Smeets H,Jansen G,Wieringa B,Lohman F,Aslanidis C

更新日期：1992-07-01 00:00:00

abstract：:We present evidence of a potentially serious source of error intrinsic to all spotted cDNA microarrays that use IMAGE clones of expressed sequence tags (ESTs). We found that a high proportion of these EST sequences contain 5'-end poly(dT) sequences that are remnants from the oligo(dT)-primed reverse transcription of p...

journal_title：Genomics

authors： Handley D,Serban N,Peters D,O'Doherty R,Field M,Wasserman L,Spirtes P,Scheines R,Glymour C

更新日期：2004-06-01 00:00:00

abstract：:MicroRNAs (miRNAs) are a group of RNAs that play important roles in regulating gene expression and protein translation. In a previous study, we established an oligonucleotide microarray platform to detect miRNA expression. Because it contained only hundreds of probes, data normalization was difficult. In this study, t...

journal_title：Genomics

authors： Hua YJ,Tu K,Tang ZY,Li YX,Xiao HS

更新日期：2008-08-01 00:00:00

abstract：:Rat CL-6 is the most highly insulin-induced gene in a liver cell line and is expressed in proliferating liver during regeneration and development. CL-6 is now denoted INSIG1 (insulin-induced gene 1). Human INSIG1 was isolated and found to be 80% identical to the rat gene within the translated region. It was located on...

journal_title：Genomics

authors： Peng Y,Schwarz EJ,Lazar MA,Genin A,Spinner NB,Taub R

更新日期：1997-08-01 00:00:00

abstract：:Integrating gene expression into protein-protein interaction network (PPIN) leads to the construction of tissue-specific (TS) and housekeeping (HK) sub-networks, with distinctive TS- and HK-hubs. All such hub proteins are divided into multi-interface (MI) hubs and single-interface (SI) hubs, where MI hubs evolve slowe...

journal_title：Genomics

authors： Biswas K,Acharya D,Podder S,Ghosh TC

更新日期：2018-09-01 00:00:00

abstract：:The genes for three subtilisin/kexin-like proprotein convertases, PC4, PC5, and PACE4, were mapped in the mouse by RFLP analysis of a DNA panel from a (C57BL/6JEi x SPRET/Ei)F1 x SPRET/Ei backcross. The chromosomal locations of the human homologs were determined by Southern blot analysis of a DNA panel from human-rode...

journal_title：Genomics

authors： Mbikay M,Seidah NG,Chrétien M,Simpson EM

更新日期：1995-03-01 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：:The human EWS gene encodes a putative RNA binding protein. As a result of acquired chromosome rearrangement, the N-terminal portion of the EWS protein is fused to the DNA binding domain of either FLI-1 or ERG in the Ewing family of tumors and to the DNA binding domain of ATF1 in malignant melanoma of soft parts. We ha...

journal_title：Genomics

authors： Plougastel B,Mattei MG,Thomas G,Delattre O

更新日期：1994-09-01 00:00:00

abstract：:The alpha 1 subunit genes encoding voltage-dependent Ca2+ channels are members of a gene family. We have used human brain cDNA probes to localize the neuronal isoform genes CACNL1A4 (alpha 1A), CACNL1A5 (alpha 1B), and CACNL1A6 (alpha 1E) to 19p13, 9q34, and 1q25-q31, respectively, using fluorescence in situ hybridiza...

journal_title：Genomics

authors： Diriong S,Lory P,Williams ME,Ellis SB,Harpold MM,Taviaux S

更新日期：1995-12-10 00:00:00

abstract：:The vast majority of small-deletion syndromes are caused by haploinsufficiency of one or several genes and are transmitted as dominant traits. We have previously identified a homozygous deletion of 179,311 bp on chromosome 2p21 as the cause of a unique syndrome, inherited in a recessive mode, consisting of cystinuria,...

journal_title：Genomics

authors： Parvari R,Gonen Y,Alshafee I,Buriakovsky S,Regev K,Hershkovitz E

更新日期：2005-08-01 00:00:00

abstract：:Imbalanced protease activity has long been recognized in the progression of disease states such as cancer and inflammation. Serpins, the largest family of endogenous protease inhibitors, target a wide variety of serine and cysteine proteases and play a role in a number of physiological and pathological states. The exp...

journal_title：Genomics

authors： Badola S,Spurling H,Robison K,Fedyk ER,Silverman GA,Strayle J,Kapeller R,Tsu CA

更新日期：2006-08-01 00:00:00

abstract：:We have previously described the cDNA coding for a new lipoprotein receptor that contains domains closely related to the ligand-binding domain of the LDL receptor. We have now investigated the localization of the gene for this new receptor by hybridization of the cDNA to panels of rodent cells containing subsets of hu...

journal_title：Genomics

authors： Myklebost O,Arheden K,Rogne S,Geurts van Kessel A,Mandahl N,Herz J,Stanley K,Heim S,Mitelman F

更新日期：1989-07-01 00:00:00

abstract：:The behaviors of autism overlap with a diverse array of other neurological disorders, suggesting common molecular mechanisms. We conducted a large comparative analysis of the network of genes linked to autism with those of 432 other neurological diseases to circumscribe a multi-disorder subcomponent of autism. We leve...

journal_title：Genomics

authors： Wall DP,Esteban FJ,Deluca TF,Huyck M,Monaghan T,Velez de Mendizabal N,Goñí J,Kohane IS

更新日期：2009-02-01 00:00:00