Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.

abstract：:Four allelic forms of serum plasminogen (PLG) were detected in baboons (Papio hamadryas Linneaus 1758) by isoelectric focusing and were determined to be inherited as autosomal codominant traits. Linkage analysis of data from 179 progeny and their parents revealed that PLG is tightly linked (lod score = 30.20) to the g...

journal_title：Genomics

authors： VandeBerg JL,Weitkamp L,Kammerer CM,Weill P,Aivaliotis MJ,Rainwater DL

更新日期：1991-12-01 00:00:00

abstract：:The sequence of the gorilla alpha-fetoprotein gene, including 869 base pairs of the 5' flanking region and 4892 base pairs of the 3' flanking region (24,607 in total), was determined from two overlapping lambda phage clones. The sequence extends 18,846 base pairs from the Cap site to the polyadenylation site, and it r...

journal_title：Genomics

authors： Ryan SC,Zielinski R,Dugaiczyk A

更新日期：1991-01-01 00:00:00

abstract：:The nervous (nr) mutant mouse displays two gross recessive traits: both an exaggeration of juvenile hyperactivity and a pronounced ataxia become apparent during the third and fourth postnatal weeks. Using an intersubspecific intercross, we have established a high-resolution map of a segment of mouse chromosome 8 that ...

journal_title：Genomics

authors： De Jager PL,Harvey D,Polydorides AD,Zuo J,Heintz N

更新日期：1998-03-15 00:00:00

abstract：:The molecular mechanism involved in BmNPV resistance was investigated using a genome wide microarray in midgut tissue of Indian silkworm Bombyx mori. In resistant race (Sarupat), 735 genes up-regulated and 589 genes down-regulated at 12 h post BmNPV infection. Similarly, in case of susceptible race (CSR-2), 2183 genes...

journal_title：Genomics

authors： Lekha G,Gupta T,Awasthi AK,Murthy GN,Trivedy K,Ponnuvel KM

更新日期：2015-12-01 00:00:00

abstract：:The goat beta-globin cluster is composed of a triplicated four-gene set. A locus control region (LCR) containing elements homologous to 5'DNase I hypersensitive sites (HS) 1, 2, and 3 of the human beta-globin LCR has been identified at the 5' end of this locus. We determined 10.2 kb of nucleotide sequence from the goa...

journal_title：Genomics

authors： Li Q,Zhou B,Powers P,Enver T,Stamatoyannopoulos G

更新日期：1991-03-01 00:00:00

abstract：:We have developed a high-information-content fingerprinting (HICF) system for bacterial artificial chromosome (BAC) clones using a Type IIS restriction endonuclease, HgaI, paired with a Type II restriction endonuclease, RsaI. In the method described, unknown five-base overhangs generated with HgaI are partially or ful...

journal_title：Genomics

authors： Ding Y,Johnson MD,Chen WQ,Wong D,Chen YJ,Benson SC,Lam JY,Kim YM,Shizuya H

更新日期：2001-06-01 00:00:00

abstract：:Mapping of 33 anonymous DNA probes and 12 genes to the long arm of chromosome 16 was achieved by the use of 14 mouse/human hybrid cell lines and the fragile site FRA16B. Two of the hybrid cell lines contained overlapping interstitial deletions in bands q21 and q22.1. The localization of the 12 genes has been refined. ...

journal_title：Genomics

authors： Chen LZ,Harris PC,Apostolou S,Baker E,Holman K,Lane SA,Nancarrow JK,Whitmore SA,Stallings RL,Hildebrand CE

更新日期：1991-06-01 00:00:00

abstract：:A computational and in silico system level framework was developed to identify and prioritize the antibacterial drug targets in Clostridium botulinum (Clb), the causative agent of flaccid paralysis in humans that can be fatal in 5 to 10% of cases. This disease is difficult to control due to the emergence of drug-resis...

journal_title：Genomics

authors： Muhammad SA,Ahmed S,Ali A,Huang H,Wu X,Yang XF,Naz A,Chen J

更新日期：2014-07-01 00:00:00

abstract：:Neurotensin (NTS) is an endogenous tridecapeptide of the central nervous system and the gastrointestinal tract of different mammalian species including human. The human gene encoding neurotensin has previously been assigned to chromosome 12 but no regional localization was available. We now confirm this assignment and...

journal_title：Genomics

authors： Marondel I,Renault B,Lieman J,Ward D,Kucherlapati R

更新日期：1996-12-01 00:00:00

abstract：:S-lac lectins are a family of soluble lactose-binding proteins thought to function in the control of cell growth. We now report the chromosomal mapping of two members of the family, termed L-14-I and L-14-II, to the q12-q13 region of human chromosome 22, suggesting the possibility of a cluster of genes for lactose-bin...

journal_title：Genomics

authors： Mehrabian M,Gitt MA,Sparkes RS,Leffler H,Barondes SH,Lusis AJ

更新日期：1993-02-01 00:00:00

abstract：:Biologic effects of androgen on target cells are mediated in part by transcriptional regulation of androgen-regulated genes (ARGs) by androgen receptor. Using serial analysis of gene expression (SAGE), we have identified a comprehensive repertoire of ARGs in LNCaP cells. One of the SAGE-derived tags exhibiting homolog...

journal_title：Genomics

authors： Xu LL,Shanmugam N,Segawa T,Sesterhenn IA,McLeod DG,Moul JW,Srivastava S

更新日期：2000-06-15 00:00:00

abstract：:By optimizing the primer-annealing temperature in a rapid air cycling procedure, two human DNA sequences encoding centromere proteins B and C (CENP-B and CENP-C) were specifically amplified without any detectable amplification of highly homologous rodent DNA sequences. Using a panel of rodent/human hybrid DNA, the gen...

journal_title：Genomics

authors： Sugimoto K,Yata H,Himeno M

更新日期：1993-07-01 00:00:00

abstract：:Amyloid beta protein (beta A4), the major component of the core of amyloid plaques in Alzheimer disease, is derived from the transmembrane amyloid precursor proteins (APPs). Our recent studies showed that a murine member of the evolutionarily conserved APP family, amyloid precursor-like protein 1 (APLP1), is specifica...

journal_title：Genomics

authors： Zhong S,Wu K,Black IB,Schaar DG

更新日期：1996-02-15 00:00:00

abstract：:CancerEnD is an integrated resource developed for annotating 8524 unique expressed enhancers, associated genes, somatic mutations and copy number variations of 8063 cancer samples from 18 cancer types of TCGA. Somatic mutation data was taken from the COSMIC repository. To delineate the relationship of change in copy n...

journal_title：Genomics

authors： Kumar R,Lathwal A,Kumar V,Patiyal S,Raghav PK,Raghava GPS

更新日期：2020-09-01 00:00:00

abstract：:We investigated a family with a duplication, dup(X)q26-q27, that was present in two brothers, their mother, and their maternal grandmother. The brothers carrying the duplication displayed spina bifida and panhypopituitarism, whereas a third healthy brother inherited the normal X chromosome. Preferential inactivation o...

journal_title：Genomics

authors： Hol FA,Schepens MT,van Beersum SE,Redolfi E,Affer M,Vezzoni P,Hamel BC,Karnes PS,Mariman EC,Zucchi I

更新日期：2000-10-15 00:00:00

abstract：:Physical maps can be constructed by "fingerprinting" a large number of random clones and inferring overlap between clones when the fingerprints are sufficiently similar. E. Lander and M. Waterman (Genomics 2: 231-239, 1988) gave a mathematical analysis of such mapping strategies. The analysis is useful for comparing v...

journal_title：Genomics

authors： Port E,Sun F,Martin D,Waterman MS

更新日期：1995-03-01 00:00:00

abstract：:Physical maps are important resources both in sequencing and in functional analyses of large genomes. Global contig-building approaches are regarded to be more efficient relative to the cumulative outcome of scattered and more localized physical mapping studies accompanying positional cloning. This work is part of an ...

journal_title：Genomics

authors： Klysik J,Cai WW,Yang C,Bradley A

更新日期：1999-11-15 00:00:00

abstract：:Thirteen moderately to highly informative microsatellite DNA polymorphisms based on (dC-dA)n.(dG-dT)n repeats were mapped to segments of human chromosome 5 using both linkage analysis and a panel of somatic cell hybrids which contained rearranged chromosomes. The markers were distributed throughout most of the length ...

journal_title：Genomics

authors： Weber JL,Polymeropoulos MH,May PE,Kwitek AE,Xiao H,McPherson JD,Wasmuth JJ

更新日期：1991-11-01 00:00:00

abstract：:The key regulatory elements for PKD2 transcription remain unclear. To identify these core elements, we characterized porcine PKD2 promoter with bioinformatics and molecular tools and found porcine PKD2 promoter bearing typical features of enriched CpG and less TATA. Further studies demonstrated that the core region wa...

journal_title：Genomics

authors： Wang Q,Han G,Ye J,Gao X,Niu H,Zhao J,Chai Y,Li N,Yin H

更新日期：2014-12-01 00:00:00

abstract：:Examination of mouse strains with a slit lamp and indirect ophthalmoscopy revealed that strain CBA/CaGnLe has a white cataract obvious at weaning age. It soon progresses to a large white nuclear cataract with mild cortical changes. Crosses with C57BL/6J showed that this is inherited as a single recessive fully penetra...

journal_title：Genomics

authors： Chang B,Hawes NL,Smith RS,Heckenlively JR,Davisson MT,Roderick TH

更新日期：1996-08-15 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：:Identifying heterogeneity in chronic obstructive pulmonary disease (COPD) phenotypes is important for the development of personalized medicine. Genome-wide analysis was used to compare the methylation levels of peripheral blood mononuclear cell (PBMC) samples from 24 acute-exacerbation (AE) COPD patients with good/poo...

journal_title：Genomics

authors： Lee SW,Hwang HH,Hsu PW,Chuang TY,Liu CW,Wu LS

更新日期：2019-12-01 00:00:00

abstract：:We developed a computational model to explore the hypothesis that regulatory instructions are context dependent and conveyed through specific 'codes' in human genomic DNA. We provide examples of correlation of computational predictions to reported mapped DNase I hypersensitive segments in the HOXA locus in human chrom...

journal_title：Genomics

authors： Bina M,Wyss P,Lazarus SA,Shah SR,Ren W,Szpankowski W,Crawford GE,Park SP,Song XC

更新日期：2009-04-01 00:00:00

abstract：:We cloned and characterized a genomic DNA fragment including the deletion junction of a chronic granulomatous disease patient with a 25-kb deletion extending to the 5' two-thirds of CYBB. The 3' breakpoint of the deletion exists in exon 7 of CYBB. A LINE-1 element lies at 5 kb upstream of CYBB in normal persons, and t...

journal_title：Genomics

authors： Kumatori A,Faizunnessa NN,Suzuki S,Moriuchi T,Kurozumi H,Nakamura M

更新日期：1998-10-15 00:00:00

abstract：:Heterotrimeric G proteins, composed of alpha, beta, and gamma subunits, transduce signals from transmembrane receptors to a wide range of intracellular effectors. The G protein gamma subunits, which play an indispensible role in this communication, constitute a large and diverse multigene family. Using an interspecifi...

journal_title：Genomics

authors： Downes GB,Gilbert DJ,Copeland NG,Gautam N,Jenkins NA

更新日期：1999-04-01 00:00:00

abstract：:Inborn errors of mitochondrial beta-oxidation cause ectopic fat accumulation, particularly in the liver. Fatty liver is associated with insulin resistance and predisposes to hepatic fibrosis. The factors underlying the pathophysiological consequences of hepatic fat accumulation have remained poorly defined. Gene expre...

journal_title：Genomics

authors： van der Leij FR,Bloks VW,Grefhorst A,Hoekstra J,Gerding A,Kooi K,Gerbens F,te Meerman G,Kuipers F

更新日期：2007-12-01 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：:We developed a model of influenza virus infection of neutrophils by inducing differentiation of the MPRO promyelocytic cell line. After 5 days of differentiation, about 20-30% of mature neutrophils could be detected. Only a fraction of neutrophils were infected by highly virulent influenza (HVI) virus, but were unable...

journal_title：Genomics

authors： Ivan FX,Tan KS,Phoon MC,Engelward BP,Welsch RE,Rajapakse JC,Chow VT

更新日期：2013-02-01 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：:The promoter/5' flank sequence, cDNA sequence, and exon/intron structures of the human thrombospondin 3 (THBS3) gene have been determined. THBS3 cDNA clones were obtained by PCR amplification of human fetal lung cDNA using THBS3-specific primers. Analysis of cDNA and genomic sequences showed the THBS3 gene to be compo...

journal_title：Genomics

authors： Adolph KW,Long GL,Winfield S,Ginns EI,Bornstein P

更新日期：1995-05-20 00:00:00