Evidence implicating heterozygous deletion of chromosome 7 in the pathogenesis of familial leukemia associated with monosomy 7.

abstract：:Adipocyte triglyceride lipase (ATGL) and hormone-sensitive lipase (HSL) are intracellular lipases that mobilize triglycerides, the main energy source in mammals. Deletion of genes encoding ATGL (Pnpla2) or HSL (Lipe) in mice results in striking phenotypic differences, suggesting distinct roles for these lipases. The g...

journal_title：Genomics

authors： Pinent M,Hackl H,Burkard TR,Prokesch A,Papak C,Scheideler M,Hämmerle G,Zechner R,Trajanoski Z,Strauss JG

更新日期：2008-07-01 00:00:00

abstract：:The novel weakly inward rectifying potassium channel Kir7.1 is a low-conductance channel that is predominantly expressed in epithelial cells. Here we describe a partial genomic characterization and the chromosomal assignment of the human Kir7.1 gene (KCNJ13). Analysis of the genomic structure using a PCR-based approac...

journal_title：Genomics

authors： Derst C,Döring F,Preisig-Müller R,Daut J,Karschin A,Jeck N,Weber S,Engel H,Grzeschik KH

更新日期：1998-12-15 00:00:00

abstract：:A novel human gene, SARM, encodes the orthologue of a Drosophila protein (CG7915) and contains a unique combination of the sterile alpha (SAM) and the HEAT/Armadillo motifs. The SARM gene was identified on chromosome 17q11, between markers D17S783 and D17S841 on BAC clone AC002094, which also included a HERV repeat an...

journal_title：Genomics

authors： Mink M,Fogelgren B,Olszewski K,Maroy P,Csiszar K

更新日期：2001-06-01 00:00:00

abstract：:A number of murine cataract mutations have been localized to chromosome 1 close to the gamma-crystallin gene cluster (Cryg) (Everett et al., 1994, Genomics 20: 429-434; Löster et al., 1994, Genomics 23: 240-242). Based on the size of the mapping or allelism tests they have not been shown to be genetically distinct and...

journal_title：Genomics

authors： Klopp N,Favor J,Löster J,Lutz RB,Neuhäuser-Klaus A,Prescott A,Pretsch W,Quinlan RA,Sandilands A,Vrensen GF,Graw J

更新日期：1998-09-01 00:00:00

abstract：:A method was recently developed for the specific amplification of human DNA sequences from interspecific somatic cell hybrids by the polymerase chain reaction (PCR) using primers directed to Alu, a short interspersed repeat element (SINE). We now show human-specific amplification using a primer to the 3' end of the hu...

journal_title：Genomics

authors： Ledbetter SA,Nelson DL,Warren ST,Ledbetter DH

更新日期：1990-03-01 00:00:00

abstract：:Low-molecular-weight, calcium-dependent phospholipase A2 genes (PLA2s) that belong to the secreted type of PLA2s are clustered within a syntenic group on human 1p35-p36 and mouse 4qD3. We reassembled trace files available from the Whole Genome Sequencing (WGS) Project, obtaining an 86-kb contig with three tandem PLA2G...

journal_title：Genomics

authors： Golik M,Cohen-Zinder M,Loor JJ,Drackley JK,Band MR,Lewin HA,Weller JI,Ron M,Seroussi E

更新日期：2006-04-01 00:00:00

abstract：:Down syndrome is a major cause of mental retardation and congenital heart defects and is due to the presence of three copies of human chromosome 21 in the affected individual. We have identified a gene, DSCR1 (HGMW-approved symbol), from the region 21q22.1-q22.2, which is highly expressed in human fetal brain and adul...

journal_title：Genomics

authors： Fuentes JJ,Pritchard MA,Estivill X

更新日期：1997-09-15 00:00:00

abstract：:The mouse protein kinase CK2 beta subunit gene (Csnk2b) is composed of seven exons contained within 7874 bp. The exon and intron lengths extend from 76 to 321 and 111 to 1272 bp, respectively. The lengths of the murine coding exons correspond exactly to the lengths of the exons in the human CK2 beta gene. Both genes c...

journal_title：Genomics

authors： Boldyreff B,Issinger OG

更新日期：1995-09-01 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：:By direct sequence analysis of 94 mutant phenylalanine hydroxylase alleles using polymerase chain reaction-based techniques, we identified a C to T transition in exon 7 of the human phenylalanine hydroxylase gene that is associated with RFLP haplotypes 1 and 4. A leucine for proline substitution at position 281 can be...

journal_title：Genomics

authors： Dworniczak B,Grudda K,Stümper J,Bartholomé K,Aulehla-Scholz C,Horst J

更新日期：1991-01-01 00:00:00

abstract：:A locus for Usher syndrome type III (USH3; MIM No. 276902) was recently assigned to a 5-cM region on chromosome 3q. We constructed a yeast artificial chromosome contig that allowed us to position novel polymorphisms in the region. These were typed in a total of 32 pedigrees from a geographically isolated Finnish found...

journal_title：Genomics

authors： Joensuu T,Blanco G,Pakarinen L,Sistonen P,Kääriäinen H,Brown S,Chapelle A,Sankila EM

更新日期：1996-12-15 00:00:00

abstract：:Development of statistical methods has become very necessary for large-scale correlation analysis in the current "omic" data. We propose ranking analysis of correlation coefficients (RAC) based on transforming correlation matrix into correlation vector and conducting a "locally ranking" strategy that significantly red...

journal_title：Genomics

authors： Tan YD

更新日期：2011-01-01 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：: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：:The Tcp-1 gene is located in the t-complex region of mouse chromosome 17 and on the long arm of human chromosome 6. In the mouse, a related gene, Tcp-1x, is tightly linked to Tcp-1. It is shown here that two genes located 3' to the murine Tcp-1 and Tcp-1x genes code for proteins highly homologous to acetyl-CoA acetylt...

journal_title：Genomics

authors： Ashworth A

更新日期：1993-11-01 00:00:00

abstract：:The secretome refers to all the Excreted/Secreted (ES) proteins of a cell, and these are involved in critical biological processes, such as cell-cell communication, and host immune responses. Recently, we introduced the Abundance of Antigenic Aegions (AAR) value to assess the protein antigenic density and to evaluate ...

journal_title：Genomics

authors： Cornejo-Granados F,Hurtado-Ramírez JM,Hernández-Pando R,Ochoa-Leyva A

更新日期：2019-12-01 00:00:00

abstract：:Balanced reciprocal translocation carriers are usually phenotypically normal but are at an increased risk of infertility, recurrent miscarriage or having affected children. Preimplantation genetic testing on chromosomal structural rearrangement (PGT-SR) offers a way to screen against unbalanced embryos. Here, we demon...

journal_title：Genomics

authors： Chow JFC,Cheng HHY,Lau EYL,Yeung WSB,Ng EHY

更新日期：2020-01-01 00:00:00

abstract：:Using a slot-blot method for the dosage of single-copy sequences, the copy numbers of 30 chromosome 21 markers were assessed in the blood DNA of 11 patients with partial trisomy or monosomy 21 and in the DNA of a patient-derived human-hamster hybrid cell line carrying a microduplication of chromosome 21. The physical ...

journal_title：Genomics

authors： Delabar JM,Chettouh Z,Rahmani Z,Theophile D,Blouin JL,Bono R,Kraus J,Barton J,Patterson D,Sinet PM

更新日期：1992-07-01 00:00:00

abstract：:We describe the isolation and characterization of a human gene (CLCN3) and its murine homologue (Clcn3) sharing significant sequence and structural similarities with all previously identified members of the voltage-gated chloride channel (ClC) family. This gene is expressed primarily in tissues derived from neuroectod...

journal_title：Genomics

authors： Borsani G,Rugarli EI,Taglialatela M,Wong C,Ballabio A

更新日期：1995-05-01 00:00:00

abstract：:Inducible costimulatory receptor (ICOS) is one recently identified member of the CD28 family of costimulatory molecules. Evidence suggests ICOS functions as a critical immune regulator and, to evaluate these effects, we employed the canine model system that has been used to develop strategies currently in clinical use...

journal_title：Genomics

authors： Lee JH,Joo YD,Yim D,Lee R,Ostrander EA,Loretz C,Little MT,Storb R,Kuhr CS

更新日期：2004-10-01 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：:The STM7 gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase (PtdInsP 5-kinase) that is subject to alternative splicing and developmental control. We have recently presented data indicating that several splice variants of STM7 incorporate elements of the X25 sequence, previously implicated in the pathogenes...

journal_title：Genomics

authors： Pook MA,Carvajal JJ,Doudney K,Hillermann R,Chamberlain S

更新日期：1997-05-15 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：:Regions of the genome showing high evolutionary stability are often conserved as a result of functional constraints. Conversely, more variable regions are likely to represent DNA with no functional or structural importance. However, as in the case of immunologically important regions, sequence divergence does not alwa...

journal_title：Genomics

authors： Bowcock A,Cavalli-Sforza L

更新日期：1991-10-01 00:00:00

abstract：:Genomic duplication, followed by divergence, contributes to organismal evolution. Several mechanisms, such as exon shuffling and alternative splicing, are responsible for novel gene functions, but they generate homologous domains and do not usually lead to drastic innovation. Major novelties can potentially be introdu...

journal_title：Genomics

authors： Okamura K,Feuk L,Marquès-Bonet T,Navarro A,Scherer SW

更新日期：2006-12-01 00:00:00

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：:Quantitative reverse transcription polymerase chain reaction (qRT-PCR) is currently viewed as the most precise technique to quantify levels of messenger RNA. Relative quantification compares the expression of a target gene under two or more experimental conditions normalized to the measured expression of a control gen...

journal_title：Genomics

authors： Steibel JP,Poletto R,Coussens PM,Rosa GJ

更新日期：2009-08-01 00:00:00

abstract：:Hemizygous deletions on chromosome 22q11.2 result in developmental disorders referred to as DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS). We report the isolation of a novel gene, PCQAP (PC2 glutamine/Q-rich-associated protein), that maps to the DiGeorge typically deleted region and encodes a protein identi...

journal_title：Genomics

authors： Berti L,Mittler G,Przemeck GK,Stelzer G,Günzler B,Amati F,Conti E,Dallapiccola B,Hrabé de Angelis M,Novelli G,Meisterernst M

更新日期：2001-06-15 00:00:00

abstract：:Gene expression variations (GEV) among different ethnic groups have been a subject matter for extensive study. Relatively less known is the extent of alternative splicing variations (ASV) in the context of ethnicity. We conducted a transcriptome sequencing study of 20 lymphoblastoid cell lines obtained from Caucasian ...

journal_title：Genomics

authors： Li JW,Lai KP,Ching AK,Chan TF

更新日期：2014-01-01 00:00:00

abstract：:The region of the dystrophin gene containing introns 45-50 is characterized by a high rate of recombination events that give rise to large deletions causing dystrophinopathy. The nucleotide sequence of this intronic region has recently been released in GenBank. With the aim of further understanding the mechanism favor...

journal_title：Genomics

authors： Toffolatti L,Cardazzo B,Nobile C,Danieli GA,Gualandi F,Muntoni F,Abbs S,Zanetti P,Angelini C,Ferlini A,Fanin M,Patarnello T

更新日期：2002-11-01 00:00:00