Confirmation of the assignment of MYCL to chromosome 1 in humans and its position relative to RH, UMPK, and PGM1.

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：: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：:We employed the polymerase chain reaction and genomic DNA library screening to clone novel human genes, GPR9 and GPR10, and a rat gene, GPR14. GPR9, GPR10, and GPR14 each encode G protein-coupled receptors. GPR10 and GPR14 are intronless within their coding regions, while GPR9 contains at least one intron. The recepto...

journal_title：Genomics

authors： Marchese A,Heiber M,Nguyen T,Heng HH,Saldivia VR,Cheng R,Murphy PM,Tsui LC,Shi X,Gregor P

更新日期：1995-09-20 00:00:00

abstract：:The ability to utilize formalin-fixed, paraffin-embedded (FFPE) archival specimens reliably for high-resolution molecular genetic analysis would be of immense practical application in the study of human disease. We have evaluated the ability of the GenomePlex whole genome amplification (WGA) kit to amplify frozen and ...

journal_title：Genomics

authors： Little SE,Vuononvirta R,Reis-Filho JS,Natrajan R,Iravani M,Fenwick K,Mackay A,Ashworth A,Pritchard-Jones K,Jones C

更新日期：2006-02-01 00:00:00

abstract：:Familial hypertrophic cardiomyopathy (HCM) is a primary myocardial disease with a prevalence of 1 in 500 in human beings. Causative mutations have been identified in several sarcomeric genes, including the cardiac myosin binding protein C (MYBPC3) gene. Heritable HCM also exists in a large-animal model, the cat, and w...

journal_title：Genomics

authors： Meurs KM,Norgard MM,Ederer MM,Hendrix KP,Kittleson MD

更新日期：2007-08-01 00:00:00

abstract：:A cDNA clone encoding the major antigen (CDR62) associated with the antibody-induced paraneoplastic cerebellar degeneration has been used to identify the chromosomal location of the corresponding structural gene(s) by screening for its retention in a panel of rodent-human somatic cell hybrids. Having established the s...

journal_title：Genomics

authors： Gress T,Baldini A,Rocchi M,Furneaux H,Posner JB,Siniscalco M

更新日期：1992-08-01 00:00:00

abstract：:The large number of redundant sequences available in nucleotide databases provides a resource for the identification of polymorphisms. Expressed polymorphisms in X-linked genes can be used to determine the inactivation status of the genes, and polymorphisms in genes that are subject to inactivation can then be used as...

journal_title：Genomics

authors： Kutsche R,Brown CJ

更新日期：2000-04-01 00:00:00

abstract：:Heme oxygenase catalyzes the oxidation of heme to biliverdin, the precursor of the bile pigment bilirubin, and carbon monoxide, a putative neurotransmitter. We have employed polymerase chain reaction and fluorescence in situ hybridization to determine the chromosome localization of the genes coding for the two known h...

journal_title：Genomics

authors： Kutty RK,Kutty G,Rodriguez IR,Chader GJ,Wiggert B

更新日期：1994-04-01 00:00:00

abstract：:Aspartylglucosaminuria (AGU) is a recessively inherited lysosomal disease caused by inadequate aspartylglucosaminidase (AGA) activity. The disease is prevalent in the genetically isolated Finnish population. We have used a new method, solid-phase minisequencing, to determine the frequency of two missense mutations in ...

journal_title：Genomics

authors： Syvänen AC,Ikonen E,Manninen T,Bengtström M,Söderlund H,Aula P,Peltonen L

更新日期：1992-03-01 00:00:00

abstract：:Members of the Janus (JAK) protein tyrosine kinase family including JAK3 have recently emerged as important components in cytokine signal transduction. Mutations of JAK3 have been found in a number of patients who present with severe combined immunodeficiency. To facilitate the further identification of JAK3-SCID pati...

journal_title：Genomics

authors： Riedy MC,Dutra AS,Blake TB,Modi W,Lal BK,Davis J,Bosse A,O'Shea JJ,Johnston JA

更新日期：1996-10-01 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：:Dynamins, microtubule-binding GTPases, are encoded by at least three genes in mammals. Two distinct gene-specific cDNAs were used to analyze the segregation of dynamin genes Dnm1 and Dnm2 in a mouse interspecies backcross. The nervous system-expressed gene Dnm1 was localized to Chr 2 between the genes for vimentin and...

journal_title：Genomics

authors： Klocke R,Augustin A,Ronsiek M,Stief A,van der Putten H,Jockusch H

更新日期：1997-04-15 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：:Type XI collagen, a minor structural component of cartilage fibrils, is composed of three chains, alpha 1(XI), alpha 2(XI), and alpha 3(XI). Using a cloned fragment of the human alpha 2(XI) collagen gene (COL11A2) as a molecular probe for in situ hybridization and somatic cell hybrid mapping, we have localized the gen...

journal_title：Genomics

authors： Hanson IM,Gorman P,Lui VC,Cheah KS,Solomon E,Trowsdale J

更新日期：1989-11-01 00:00:00

abstract：:The Alu repeat sequence is estimated to account for 5% of human genomic DNA. The precise relationship of Alu sequences to human fully spliced cDNA has yet to be determined, although many new protocols for cloning cDNAs either depend on the presence of Alus or--more usually--rely on their absence in a population of mes...

journal_title：Genomics

authors： Yulug IG,Yulug A,Fisher EM

更新日期：1995-06-10 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：:Calcyclin is a member of the S100 family of proteins, many of which are encoded by genes that have been localized to the proximal long arm of human chromosome 1 (bands q21-q22). A 450-kb yeast artificial chromosome clone containing the human calcyclin gene was identified by PCR screening and used as a probe for fluore...

journal_title：Genomics

authors： Hardas BD,Zhang J,Trent JM,Elder JT

更新日期：1994-05-15 00:00:00

abstract：:Proteins of the DUF1313 family contain a highly conserved domain and are only found in plants; they play important roles in most plant functions. In this study, 269 DUF1313 genes from 81 photoautotrophic species were identified; they were classified into three major types based on the amino acid substitutions in the c...

journal_title：Genomics

authors： Li J,Hu E,Chen X,Xu J,Lan H,Li C,Hu Y,Lu Y

更新日期：2016-05-01 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：:Chimpanzees are naturally and asymptomatically infected by simian immunodeficiency virus (SIV). Pathogenic properties of SIV/HIV vary and differences in susceptibility and pathogenicity of SIV/HIV depend in part on host-specific factors such as virus-receptor/co-receptor interactions. Since CD4 plays a primary role in...

journal_title：Genomics

authors： Hvilsom C,Carlsen F,Siegismund HR,Corbet S,Nerrienet E,Fomsgaard A

更新日期：2008-11-01 00:00:00

abstract：:We have characterized three terminal deletions of the long arm of the X chromosome. Southern analysis using Xq27/q28 probes suggests that two of the deletions have breakpoints near the fragile site at Xq27.3. Flow karyotype analysis provides an estimate of 12 X 10(6) bp for the size of the deleted region. We have not ...

journal_title：Genomics

authors： Patterson M,Schwartz C,Bell M,Sauer S,Hofker M,Trask B,van den Engh G,Davies KE

更新日期：1987-12-01 00:00:00

abstract：:LRP1B is a novel candidate tumor suppressor gene that is inactivated by genetic and transcript alterations in nearly 50% of non-small-cell lung cancer cell lines. The gene-encoded protein is highly homologous to the gigantic lipoprotein receptor-related protein 1 (LRP1) that belongs to the family of low-density lipopr...

journal_title：Genomics

authors： Liu CX,Musco S,Lisitsina NM,Yaklichkin SY,Lisitsyn NA

更新日期：2000-10-15 00:00:00

abstract：:Uroporphyrinogen-III (URO) synthase is the heme biosynthetic enzyme defective in congenital erythropoietic porphyria. The approximately 34-kb human URO-synthase gene (UROS) was isolated, and its organization and tissue-specific expression were determined. The gene had two promoters that generated housekeeping and eryt...

journal_title：Genomics

authors： Aizencang G,Solis C,Bishop DF,Warner C,Desnick RJ

更新日期：2000-12-01 00:00:00

abstract：:Mutations in genes encoding polycystin-1 (PC1) and polycystin-2 cause autosomal dominant polycystic kidney disease. The polycystin protein family is composed of Ca2+-permeable pore-forming subunits and receptor-like integral membrane proteins. Here we describe a novel member of the polycystin-1-like subfamily, polycys...

journal_title：Genomics

authors： Yuasa T,Takakura A,Denker BM,Venugopal B,Zhou J

更新日期：2004-07-01 00:00:00

abstract：:Homozygous transgenic mice from line A4 have an early-onset progressive neuromuscular disorder characterized by paralysis of the rear limbs, muscle atrophy, and lethality by 4 weeks of age. The transgene insertion site was mapped to distal chromosome 15 close to the locus motor endplate disease (med). The sequence of ...

journal_title：Genomics

authors： Kohrman DC,Plummer NW,Schuster T,Jones JM,Jang W,Burgess DL,Galt J,Spear BT,Meisler MH

更新日期：1995-03-20 00:00:00

abstract：:Eight genes located on the short arm of the human X chromosome (MAOA, SYN1, OAT, OTC, CYBB, DMD, ZFX, POLA) have been mapped in several marsupial species by cell hybrid analysis and/or in situ hybridization using probes derived from human cDNA. Seven appear to be autosomal in all marsupial species examined. The eighth...

journal_title：Genomics

authors： Spencer JA,Sinclair AH,Watson JM,Graves JA

更新日期：1991-10-01 00:00:00

abstract：:A linkage analysis with 12 DNA markers from proximal 19q was performed in eight families with central core disease (CCO). Two-point analysis gave a peak lod score of Z = 4.95 at theta = 0.00 for the anonymous marker D19S190 and of Z = 2.53 at theta = 0.00 for the ryanodine receptor (RYR1) candidate gene. Multipoint li...

journal_title：Genomics

authors： Schwemmle S,Wolff K,Palmucci LM,Grimm T,Lehmann-Horn F,Hübner C,Hauser E,Iles DE,MacLennan DH,Müller CR

更新日期：1993-07-01 00:00:00

abstract：:The use of round spermatids that are fully active at the transcriptional level to create zygotes (i.e. round spermatid injection; ROSI) raises the question regarding the downregulation of all specific genes that are transcribed from the paternal genome at fertilization. In this study, we show that protamine 1 and 2 mR...

journal_title：Genomics

authors： Borghol N,Blachère T,Lefèvre A

更新日期：2008-05-01 00:00:00

abstract：:Head and neck squamous cell carcinoma (HNSCC) is a malignant tumor of the upper aerodigestive tract. The loss and gain of miRNA function promote cancer development through various mechanisms. RNA sequencing (RNA-seq) and miRNAs sequencing data from the Cancer Genome Atlas (TCGA) was used to show the dysfunctional miRN...

journal_title：Genomics

authors： Wu ZH,Zhong Y,Zhou T,Xiao HJ

更新日期：2021-01-01 00:00:00

abstract：:The chromosomal locations and the tissue expression patterns of the human transcriptional adaptors TADA2L and GCN5L2 have been determined. Northern blot analysis across a range of human tissues revealed that both the TADA2L and the GCN5L2 mRNAs are expressed to varying degrees in all tissue types. Furthermore, in most...

journal_title：Genomics

authors： Carter KC,Wang L,Shell BK,Zamir I,Berger SL,Moore PA

更新日期：1997-03-15 00:00:00