Bilateral congenital cataracts result from a gain-of-function mutation in the gene for aquaporin-0 in mice.

abstract：:Formyl peptide receptors (FPRs) were firstly detected in immune cells where they act as key mediators of leukocyte chemotaxis, promoting the host defense against pathogens. Recently, three paralogs were reported in Homo sapiens (FPR1-3) and seven paralogs in Mus musculus (FPR1, FPRrs1-4, FPRrs6 and FPRrs7), but inform...

journal_title：Genomics

authors： Silva L,Mendes T,Antunes A

更新日期：2020-07-01 00:00:00

abstract：:The canine species, including wolf and jackal, have four digits on the hind limb. It was thought that an extra first digit on the hind limb, named dewclaw, was a hereditary defect. For genetically related canine pedigrees with 73 members with dewclaws, we carried out a genome-wide scan for linkage with microsatellites...

journal_title：Genomics

authors： Park K,Kang J,Park S,Ha J,Park C

更新日期：2004-02-01 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

abstract：:Human chromosome 11 harbors many genes of medical significance and cancer-related rearrangements. The availability of cloned DNA in cosmids and in yeast artificial chromosomes (YACs), combined with fluorescence in situ hybridization analysis, has led to the cloning of genes at sites of chromosomal breakpoints in acute...

journal_title：Genomics

authors： Selleri L,Giovannini M,Hermanson GG,Romo A,Quackenbush J,Penny L,Khristich JV,Evans GA

更新日期：1994-07-01 00:00:00

abstract：:To predict the functions of a possible protein product of any new or uncharacterized DNA sequence, it is important first to detect all significant similarities between the encoded amino acid sequence and any accumulated protein sequence data. We have implemented a set of queries and database sequences and proceeded to...

journal_title：Genomics

authors： Shpaer EG,Robinson M,Yee D,Candlin JD,Mines R,Hunkapiller T

更新日期：1996-12-01 00:00:00

abstract：:Unbalanced chromosome translocations with breakpoints around 8p12, resulting in loss of distal 8p, are common in carcinomas. We have mapped the 8p12 breakpoints in three breast cancer cell lines, T-47D, MDA-MB-361, and ZR-75-1, using YACs and PACs between D8S540 and D8S255 by fluorescence in situ hybridization. All th...

journal_title：Genomics

authors： Courtay-Cahen C,Morris JS,Edwards PA

更新日期：2000-05-15 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：: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：:A variety of cellular proteins have been found to bind to related DNA sequences in the enhancer elements of the human immunodeficiency virus, the kappa immunoglobulin gene, the class I major histocompatibility complex gene, and the beta-interferon gene. Recently, lambda gt11 gene expression cloning using ligated oligo...

journal_title：Genomics

authors： Gaynor RB,Muchardt C,Diep A,Mohandas TK,Sparkes RS,Lusis AJ

更新日期：1991-04-01 00:00:00

abstract：:In line 4 transgenic mice, six to eight copies of a 50-kb lambda recombinant clone are arranged in a head-to-tail tandem array on chromosome 3. Embryos homozygous for the transgene become arrested in their development on Day 5 of gestation shortly after implantation. The insertion site was cloned using a small segment...

journal_title：Genomics

authors： Mark WH,Signorelli K,Blum M,Kwee L,Lacy E

更新日期：1992-05-01 00:00:00

abstract：:The genes encoding receptors for the chemotactic ligands C5a (C5AR) and FMLP (FPR) were mapped using a panel of somatic cell hybrids to chromosome 19. Because the hybridization pattern on Southern analysis suggested an intron structure or related genes in the case of FPR, genomic clones were characterized. Two structu...

journal_title：Genomics

authors： Bao L,Gerard NP,Eddy RL Jr,Shows TB,Gerard C

更新日期：1992-06-01 00:00:00

abstract：:An autosomal dominant retinal degeneration, called Rd4, was found in a stock carrying the inversion In(4)56Rk, which was induced in a DBA/2J male. The inversion encompasses nearly all of Chromosome 4. It is homozygous lethal and in heterozygotes is always associated with retinal degeneration. In affected mice, the ret...

journal_title：Genomics

authors： Roderick TH,Chang B,Hawes NL,Heckenlively JR

更新日期：1997-06-15 00:00:00

abstract：:CL-20 is a novel gene encoding a protein that is structurally related to but distinct from the peripheral myelin protein PMP22. Like PMP22, CL-20 is likely to play important roles in the regulation of cell proliferation, differentiation, and cell death. In this study, we describe the cloning and sequencing of a cDNA e...

journal_title：Genomics

authors： Chen Y,Medvedev A,Ruzanov P,Marvin KW,Jetten AM

更新日期：1997-04-01 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：:Most teleosts undergo a thyroid hormone (TH) regulated larval to juvenile transition known as metamorphosis. In Pleuronectiformes (flatfish), metamorphosis is most dramatic, and one eye of the symmetric pelagic larvae migrates to the opposite side of the head, giving rise to an asymmetric benthic juvenile with both ey...

journal_title：Genomics

authors： Louro B,Marques JP,Manchado M,Power DM,Campinho MA

更新日期：2020-01-01 00:00:00

abstract：:Here, we present the first complete genome sequence of brucellaphage Tbilisi (Tb) and compared it with that of Pr, a broad host-range brucellaphage recently isolated in Mexico. The genomes consist of 41,148 bp (Tb) and 38,253 bp (Pr), they differ mainly in the region encoding structural proteins, in which the genome o...

journal_title：Genomics

authors： Flores V,López-Merino A,Mendoza-Hernandez G,Guarneros G

更新日期：2012-04-01 00:00:00

abstract：:The identification of noncoding functional elements within vertebrate genomes, such as those that regulate gene expression, is a major challenge. Comparisons of orthologous sequences from multiple species are effective at detecting highly conserved regions and can reveal potential regulatory sequences. The GDF6 gene c...

journal_title：Genomics

authors： Portnoy ME,McDermott KJ,Antonellis A,Margulies EH,Prasad AB,NISC Comparative Sequencing Program.,Kingsley DM,Green ED,Mortlock DP

更新日期：2005-09-01 00:00:00

abstract：:TrxG and PcG complexes play key roles in the epigenetic regulation of development through H3K4me3 and H3K27me3 modification at specific sites throughout the human genome, but how these sites are selected is poorly understood. We find that in pluripotent cells, clustered CpG-islands at genes predict occupancy of H3K4me...

journal_title：Genomics

authors： Orlando DA,Guenther MG,Frampton GM,Young RA

更新日期：2012-11-01 00:00:00

abstract：:We report monozygotic twin girls with syndromic intellectual disability who underwent exome sequencing but with negative pathogenic variants. To search for variants that are unrecognized by exome sequencing, high-fidelity long-read genome sequencing (HiFi LR-GS) was applied. A 12-kb copy-neutral inversion was precisel...

journal_title：Genomics

authors： Mizuguchi T,Okamoto N,Yanagihara K,Miyatake S,Uchiyama Y,Tsuchida N,Hamanaka K,Fujita A,Miyake N,Matsumoto N

更新日期：2020-11-04 00:00:00

abstract：:We describe here a 1.2-Mb yeast artificial chromosome (YAC) contig within the region of mouse chromosome 17 between Brachyury (T) and D17Rp17e, and spanning the quaking (qk) region. We describe six new probes distributed across 1.2 Mb: D17Leh502, D17Leh503, D17Leh504, D17Leh505, D17Leh506, and D17Leh507. Probes D17Leh...

journal_title：Genomics

authors： Cox RD,Shedlovsky A,Hamvas R,Goldsworthy M,Whittington J,Connelly CS,Dove WF,Lehrach H

更新日期：1994-05-01 00:00:00

abstract：:Because of the conservation of the ubiquitin coding sequence and the number of transcriptionally active genes and reverse-transcribed pseudogenes, it has not been possible to use ubiquitin cDNA clones to map the functional ubiquitin genes. The UBB and UBC polyubiquitin genes have previously been mapped by the use of s...

journal_title：Genomics

authors： Webb GC,Baker RT,Coggan M,Board PG

更新日期：1994-02-01 00:00:00

abstract：:Afrotheria genome size is reported to be over 50% larger than that of human, but we show that this is a gross overestimate. Although genome sequencing in Afrotheria is not complete, extensive homology with human has been revealed by chromosome painting. We provide new data on chromosome size and GC content in four Afr...

journal_title：Genomics

authors： Kasai F,O'Brien PC,Ferguson-Smith MA

更新日期：2013-11-01 00:00:00

abstract：:Sulfonation is an important pathway in the biotransformation of many drugs, xenobiotics, neurotransmitters, and steroid hormones. The thermostable (TS) form of phenol sulfotransferase (PST) preferentially catalyzes the sulfonation of "simple" planar phenols, and levels of activity of TS PST in human tissues are contro...

journal_title：Genomics

authors： Her C,Raftogianis R,Weinshilboum RM

更新日期：1996-05-01 00:00:00

abstract：:Most members of the large family of rhodopsin-like G-protein-coupled receptors possess an evolutionarily conserved Asp-Arg-Tyr (DRY) motif in the C-terminal region of the third transmembrane domain. Mutations of residues within this motif usually abolish receptor function and, when they occur naturally, can even cause...

journal_title：Genomics

authors： Römpler H,Yu HT,Arnold A,Orth A,Schöneberg T

更新日期：2006-06-01 00:00:00

abstract：:A NotI linking library constructed from flow-sorted human chromosome 17 material was screened to aid in construction of a long-range restriction map of the Miller-Dieker chromosome region (MDCR) in 17p13.3. A total of 66 clones were mapped to one of eight regions of chromosome 17 using a somatic cell hybrid panel, and...

journal_title：Genomics

authors： Ledbetter SA,Wallace MR,Collins FS,Ledbetter DH

更新日期：1990-06-01 00:00:00

abstract：:In response to nutrient deprivation, the ubiquitous Gram-negative soil bacterium Myxococcus xanthus undergoes a well-characterized developmental response, resulting in the formation of a multicellular fruiting body. The center of the fruiting body consists of myxospores; surrounding this structure are rod-shaped perip...

journal_title：Genomics

authors： Whitfield DL,Sharma G,Smaldone GT,Singer M

更新日期：2020-03-01 00:00:00

abstract：:RFX1 is a transacting DNA-binding regulatory factor involved in the control of MHC class II gene expression. RFX2 is a structurally very similar protein with identical DNA binding features. A member of the family of RFX factors is affected in an autosomal recessive disease, MHC class II deficient combined immunodefici...

journal_title：Genomics

authors： Pugliatti L,Derré J,Berger R,Ucla C,Reith W,Mach B

更新日期：1992-08-01 00:00:00

abstract：:The gene for X-linked nephrogenic diabetes insipidus (NDI), a disorder which, if untreated, causes severe dehydration, mental retardation, and possibly death in affected males, has been mapped recently to the Xq28 band through demonstration of linkage to the DX552 locus and other DNA markers (N. Knoers et al., 1987, C...

journal_title：Genomics

authors： Knoers N,van der Heyden H,van Oost BA,Monnens L,Willems J,Ropers HH

更新日期：1989-04-01 00:00:00

abstract：:Using cDNA probes obtained from library screening and anchored polymerase chain reaction, we have isolated and characterized three overlapping mouse genomic clones that contain the mouse lipocortin I (Lipo I) structural gene. Restriction enzyme mapping, Southern blotting, and DNA sequencing were carried out on the clo...

journal_title：Genomics

authors： Horlick KR,Cheng IC,Wong WT,Wakeland EK,Nick HS

更新日期：1991-06-01 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