Multiple functional copies of the RBM gene family, a spermatogenesis candidate on the human Y chromosome.

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：:A comparison study of short SAGE versus GeneChip and long SAGE was conducted to determine if data were interchangeable between the techniques. Although SAGE and Affymetrix chip expression levels showed a significant correlation using the set of genes for which there was reliable and unambiguous mapping from tag-to-gen...

journal_title：Genomics

authors： Lu J,Lal A,Merriman B,Nelson S,Riggins G

更新日期：2004-10-01 00:00:00

abstract：:The inherited cancer syndrome multiple endocrine neoplasia type 2A (MEN2A) has recently been mapped to chromosome 10. We have typed 29 families with this disorder with DNA markers from the pericentromeric region of chromosome 10. Two markers, RBP3 and MCK2, were tightly linked to the MEN2A gene at recombination fracti...

journal_title：Genomics

authors： Nakamura Y,Mathew CG,Sobol H,Easton DF,Telenius H,Bragg T,Chin K,Clark J,Jones C,Lenoir GM

更新日期：1989-08-01 00:00:00

abstract：:This paper describes an efficient procedure for selecting large numbers of unique-sequence or very low repeat-sequence probes from recombinant phage libraries. Probes were selected from the Charon 21A library LL21NS02 (made from DNA from human chromosome 21) in a multistep process in which (1) inserts from LL21NS02 we...

journal_title：Genomics

authors： Fuscoe JC,Collins CC,Pinkel D,Gray JW

更新日期：1989-07-01 00:00:00

abstract：:Several studies have reported significant linkage for schizophrenia on 6p23, with a maximum lod score between D6S274 and D6S285. In this paper, we present a new human kinesin gene localized in this 2-cM interval. This gene, termed KIF13A, belongs to the unc-104/KIF1A kinesin subfamily and represents the orthologue of ...

journal_title：Genomics

authors： Jamain S,Quach H,Fellous M,Bourgeron T

更新日期：2001-05-15 00:00:00

abstract：:Haemophilia is an X-linked genetic disorder in which A and B types are the most common that occur due to absence or lack of protein factors VIII and IX, respectively. Severity of the disease depends on mutation. Available Machine Learning (ML) methods that predict the mutational severity by using traditional encoding ...

journal_title：Genomics

authors： Singh VK,Maurya NS,Mani A,Yadav RS

更新日期：2020-11-01 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：:A genetic map of nine loci defined by polymorphic DNA markers was created using a single cross of F344/N and LEW/N rats. The markers contained polymorphic simple sequence repeats identified in five genes, renin (Ren), cardiac troponin T (Tnnt3), synaptotagmin (Syt2), Na+,K(+)-ATPase catalytic subunit (Atp1a2), and the...

journal_title：Genomics

authors： Remmers EF,Goldmuntz EA,Zha H,Mathern P,Du Y,Crofford LJ,Wilder RL

更新日期：1993-11-01 00:00:00

abstract：:The general strategies of phototransduction in vertebrates and invertebrates share many similarities, but differ significantly in their underlying molecular machinery. The CDS gene encodes the CDP-diacylglycerol synthase (CDS) enzyme and is required for phototransduction in Drosophila. Using a bioinformatic approach, ...

journal_title：Genomics

authors： Volta M,Bulfone A,Gattuso C,Rossi E,Mariani M,Consalez GG,Zuffardi O,Ballabio A,Banfi S,Franco B

更新日期：1999-01-01 00:00:00

abstract：:Despite the increasing number of disorders known to result from trinucleotide repeat amplification, the molecular mechanism underlying these dynamic mutations is still unknown. In an attempt to create a mouse model for the CGG repeat instability seen in Fragile X syndrome, we constructed transgenes corresponding to FM...

journal_title：Genomics

authors： Lavedan C,Grabczyk E,Usdin K,Nussbaum RL

更新日期：1998-06-01 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：:The Long-Evans Cinnamon (LEC) rat has a spontaneous mutation, T helper immunodeficiency (thid), which causes a markedly reduced CD4(+) thymocyte population. Here we positionally clone the locus and identify a deletion in the gene encoding a receptor-like protein tyrosine phosphatase kappa (Ptprk) that led to complete ...

journal_title：Genomics

authors： Kose H,Sakai T,Tsukumo S,Wei K,Yamada T,Yasutomo K,Matsumoto K

更新日期：2007-06-01 00:00:00

abstract：:Cloning and characterization of the cystic fibrosis transmembrane conductance regulator (CFTR) gene led to the identification and isolation of cDNA and genomic sequences that cross-hybridized to the first nucleotide binding fold of CFTR. DNA sequence analysis of these clones showed that the cross-hybridizing sequences...

journal_title：Genomics

authors： Rozmahel R,Heng HH,Duncan AM,Shi XM,Rommens JM,Tsui LC

更新日期：1997-11-01 00:00:00

abstract：:The hemopoietic growth factors interleukin-3 (IL-3, multi-CSF) and granulocyte-macrophage colony-stimulating factor (GM-CSF) belong to a family of secreted glycoproteins that stimulate the proliferation and differentiation of hemopoietic progenitor cells. IL-3 and GM-CSF have overlapping biological activities and show...

journal_title：Genomics

authors： Lee JS,Young IG

更新日期：1989-08-01 00:00:00

abstract：:Zebrafish transgenesis is a powerful and increasingly common strategy to assay vertebrate transcriptional regulatory control. Several challenges remain, however, to the broader application of this technique; they include increasing the rate with which transgenes can be analyzed and maximizing the informational value o...

journal_title：Genomics

authors： McGaughey DM,McCallion AS

更新日期：2010-06-01 00:00:00

abstract：:We report the isolation of cDNA clones for the mouse alpha 7 neuronal nicotinic acetylcholine receptor subunit (gene symbol Acra7), the only nicotinic receptor subunit known to bind alpha-bungarotoxin in mammalian brain. This gene may have relevance to nicotine sensitivity and to some electrophysiologic findings in sc...

journal_title：Genomics

authors： Orr-Urtreger A,Seldin MF,Baldini A,Beaudet AL

更新日期：1995-03-20 00:00:00

abstract：:Paulownia tomentosa is an important foundation forest tree species in semiarid areas. The lack of genetic information hinders research into the mechanisms involved in its response to abiotic stresses. Here, short-read sequencing technology (Illumina) was used to de novo assemble the transcriptome on P. tomentosa. A to...

journal_title：Genomics

authors： Dong Y,Fan G,Deng M,Xu E,Zhao Z

更新日期：2014-10-01 00:00:00

abstract：:Interspecific somatic cell hybrids containing single human chromosomes are valuable reagents for localization of cloned genes and DNA fragments to specific chromosomes, for the development of chromosome-specific libraries, and for generation of hybrid cell lines containing subchromosomal regions. A CHO somatic cell hy...

journal_title：Genomics

authors： Mares A Jr,Ledbetter SA,Ledbetter DH,Roberts R,Hejtmancik JF

更新日期：1991-09-01 00:00:00

abstract：:Circular RNAs (circRNAs) are a new kind of endogenous non-coding RNAs, which have been discovered continuously. More and more studies have shown that circRNAs are related to the occurrence and development of human diseases. Identification of circRNAs associated with diseases can contribute to understand the pathogenes...

journal_title：Genomics

authors： Ge E,Yang Y,Gang M,Fan C,Zhao Q

更新日期：2020-03-01 00:00:00

abstract：:To investigate the association between SNPs in human IGF2/H19 gene locus and epithelial ovarian cancer (EOC) risk, we performed a case-control study in 422 individuals (219 EOC patients and 203 cancer-free controls). Four SNPs (rs2525885, rs2839698, rs3741206, rs3741219) were found to be related with EOC risk. Specifi...

journal_title：Genomics

authors： Zhang HB,Zeng Y,Li TL,Wang G

更新日期：2020-05-01 00:00:00

abstract：:Myeloproliferative disorders frequently show deletions or rearrangements of the long arm of chromosome 13. We report here the cloning of RNF6, a new gene that maps close to the chromosome 13 breakpoint in a case of myelofibrosis with a t(4;13)(q26;q12). RNF6 is predicted to encode a 685-amino-acid protein with a coile...

journal_title：Genomics

authors： Macdonald DH,Lahiri D,Sampath A,Chase A,Sohal J,Cross NC

更新日期：1999-05-15 00:00:00

abstract：:A gene family of Na+/H+ exchanger isoforms has been identified. Characterization of rabbit NHE3 suggests that it is the apical epithelial Na+/H+ exchanger isoform responsible for transepithelial, electroneutral Na+ absorption in intestinal and renal epithelial cells. We have previously isolated from a human kidney cor...

journal_title：Genomics

authors： Brant SR,Bernstein M,Wasmuth JJ,Taylor EW,McPherson JD,Li X,Walker S,Pouyssegur J,Donowitz M,Tse CM

更新日期：1993-03-01 00:00:00

abstract：:Aneuploidy is a characteristic of the majority of human cancers, and recent work has suggested that mitotic checkpoint defects play a role in its development. To further explore this issue, we isolated a novel human gene, MAD2B (MAD2L2), which is homologous to the spindle checkpoint gene MAD2 (MAD2L1). We determined t...

journal_title：Genomics

authors： Cahill DP,da Costa LT,Carson-Walter EB,Kinzler KW,Vogelstein B,Lengauer C

更新日期：1999-06-01 00:00:00

abstract：:lncRNAs are a class of transcriptional RNA molecules of >200 nucleotides in length. However, the overall expression pattern and function of lncRNAs in sheep muscle is not clear. Here, we identified 1566 lncRNAs and 404 differentially expressed lncRNAs in sheep muscle from prenatal (110 days of fetus) and postnatal (2 ...

journal_title：Genomics

authors： Li CY,Li X,Liu Z,Ni W,Zhang X,Hazi W,Ma Q,Zhang Y,Cao Y,Qi J,Yao Y,Feng L,Wang D,Hou X,Yu S,Liu L,Zhang M,Hu S

更新日期：2019-03-01 00:00:00

abstract：:We employed cDNA representational difference analysis (RDA) with human-mouse somatic hybrid cells containing human chromosome 17 and obtained several cDNA clones specific for this chromosome. A cDNA library from PHA-stimulated T cells was screened with unknown cDNA clones obtained by RDA as probes. Subsequently, 1 com...

journal_title：Genomics

authors： Tajima Y,Tashiro K,Camerini D

更新日期：1997-06-01 00:00:00

abstract：:Repeat element-mediated PCR can facilitate rapid cloning and mapping of human chromosomal region-specific DNA markers from somatic cell hybrid DNA. PCR primers directed to human repeat elements result in human-specific DNA synthesis; template DNA derived from a somatic cell hybrid containing the human chromosomal regi...

journal_title：Genomics

authors： Brooks-Wilson AR,Smailus DE,Weier HU,Goodfellow PJ

更新日期：1992-06-01 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：:The solute carrier family 22 (SLC22) is a large family of organic cation and anion transporters. These are transmembrane proteins expressed predominantly in kidneys and liver and mediate the uptake and excretion of environmental toxins, endogenous substances, and drugs from the body. Through a comprehensive database s...

journal_title：Genomics

authors： Jacobsson JA,Haitina T,Lindblom J,Fredriksson R

更新日期：2007-11-01 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：:Type V collagen is a fibrillar collagen that is widely distributed in tissues as a minor component of extracellular matrix and is usually composed of one pro alpha 2 (V) and two pro alpha 1 (V) chains. In this report, recently isolated cDNA and genomic clones, which encode the pro alpha 1 (V) chain, are used as probes...

journal_title：Genomics

authors： Greenspan DS,Byers MG,Eddy RL,Cheng W,Jani-Sait S,Shows TB

更新日期：1992-04-01 00:00:00