Linkage analysis and physical mapping near the gene for X-linked agammaglobulinemia at Xq22.

abstract：:The genes encoding the alpha 1 chain of Type III collagen (COL3A1) and the alpha 2 chain of Type V (COL5A2) collagen have been mapped to the long arm of human chromosome 2. Linkage analysis in CEPH families indicated that these two genes are close to each other, with no recombination in 37 informative meioses. In the ...

journal_title：Genomics

authors： Cutting GR,McGinniss MJ,Kasch LM,Tsipouras P,Antonarakis SE

更新日期：1990-10-01 00:00:00

abstract：:The puffer fish, Fugu rubripes (Fugu), has been proposed as a model vertebrate genome. We have characterized two putative G-protein-coupled receptor encoding genes, FCB1A and FCB1B, obtained by degenerate PCR and low-stringency hybridization of a Fugu genomic library. These two genes show high homology to the human ca...

journal_title：Genomics

authors： Yamaguchi F,Macrae AD,Brenner S

更新日期：1996-08-01 00:00:00

abstract：:Specific language impairment (SLI) is defined as failure to acquire normal language skills despite adequate intelligence and environmental stimulation. Although SLI disorders are often heritable, the genetic basis is likely to involve a number of risk factors. This study describes a 7-year-old girl carrying an inherit...

journal_title：Genomics

authors： Kwasnicka-Crawford DA,Carson AR,Roberts W,Summers AM,Rehnström K,Järvelä I,Scherer SW

更新日期：2005-08-01 00:00:00

abstract：:One hundred nineteen YACs were assembled into 6 contigs spanning about 7.1 Mb of Xq28. The contigs were formatted with 65 STSs and 136 hybridization probes and were extensive enough to be aligned and oriented by published genetic linkage and somatic cell hybrid panel data. Selected YACs from the entire region were map...

journal_title：Genomics

authors： Palmieri G,Romano G,Ciccodicola A,Casamassimi A,Campanile C,Esposito T,Cappa V,Lania A,Johnson S,Reinbold R

更新日期：1994-11-01 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：: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：:Sperm motility is one of the most important indicators to evaluate poultry fertility. In order to explore key molecular regulation roles related to sperm motility, we employed testicular RNA sequencing of pigeon. A total of 705 known and 385 novel microRNAs were identified. Compared with the low sperm motility group, ...

journal_title：Genomics

authors： Yin Z,Xu X,Tan Y,Cao H,Zhou W,Dong X,Mao H

更新日期：2021-01-01 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：:The sequence of 20,114 bp of DNA including the human glucose-6-phosphate dehydrogenase (G6PD) gene was determined. The region included a prominent CpG island, starting about 680 nucleotides upstream of the transcription start site, extending about 1050 nucleotides downstream of the start site, and ending just at the s...

journal_title：Genomics

authors： Chen EY,Cheng A,Lee A,Kuang WJ,Hillier L,Green P,Schlessinger D,Ciccodicola A,D'Urso M

更新日期：1991-07-01 00:00:00

abstract：:This study has investigated the transcriptional regulation of the Emr1 gene in murine macrophages and defined an enhancer element within the proximal promoter that is necessary for Emr1 expression in myeloid cells. This element consists of an extended purine-rich sequence (PuRS) of 83 consecutive purine residues conta...

journal_title：Genomics

authors： O'Reilly D,Addley M,Quinn C,MacFarlane AJ,Gordon S,McKnight AJ,Greaves DR

更新日期：2004-12-01 00:00:00

abstract：:A new member of the insulin gene superfamily (INSL5) was identified by searching EST databases for the presence of the conserved insulin B-chain cysteine motif. Human and murine INSL5 are both polypeptides of 135 amino acids, matching the classical signature of the insulin superfamily. Through the B- and A-chain regio...

journal_title：Genomics

authors： Conklin D,Lofton-Day CE,Haldeman BA,Ching A,Whitmore TE,Lok S,Jaspers S

更新日期：1999-08-15 00:00:00

abstract：:Mutations in the DKC1 gene are responsible for causing X-linked recessive dyskeratosis congenita (DKC) and a more severe allelic variant of the disease, Hoyeraal-Hreidarsson syndrome. Both diseases are characterized by progressive and fatal bone marrow failure. The nucleolar protein dyskerin is the pseudouridine synth...

journal_title：Genomics

authors： Heiss NS,Bächner D,Salowsky R,Kolb A,Kioschis P,Poustka A

更新日期：2000-07-15 00:00:00

abstract：:We have isolated a human homologue (MEST) of the mouse mesoderm-specific transcript (Mest) gene that shares about 70% nucleotide sequence homology. Northern blot analysis showed that the MEST gene was expressed in all major fetal organs and tissues so far examined, i.e., amnion, brain, heart, lung, stomach, gut, adren...

journal_title：Genomics

authors： Nishita Y,Yoshida I,Sado T,Takagi N

更新日期：1996-09-15 00:00:00

abstract：:In humans, uridine 5'-diphosphate glucuronosyltransferase (UGT) operates in opposition to glucuronidase (GUS) to control activity of diverse metabolites such as hormones by reversible conjugation with glucuronic acid. Previous data revealed that, as in mammals, these enzymes are required for plant life in that a UGT f...

journal_title：Genomics

authors： Woo HH,Jeong BR,Hirsch AM,Hawes MC

更新日期：2007-07-01 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：:The EF-hand superfamily of calcium binding proteins includes the S100, calcium binding protein, and troponin subfamilies. This study represents a genome, structure, and expression analysis of the S100 protein family, in mouse, human, and rat. We confirm the high level of conservation between mammalian sequences but sh...

journal_title：Genomics

authors： Ravasi T,Hsu K,Goyette J,Schroder K,Yang Z,Rahimi F,Miranda LP,Alewood PF,Hume DA,Geczy C

更新日期：2004-07-01 00:00:00

abstract：:Mesomelic dysplasia is a severe shortening of forearms and forelegs, and is found in several distinct human syndromes. Here, we report the cloning of the breakpoints of a human t(2;8)(q31;p21) balanced translocation associated with mesomelic dysplasia of the upper limbs, as well as with vertebral defects. We show that...

journal_title：Genomics

authors： Spitz F,Montavon T,Monso-Hinard C,Morris M,Ventruto ML,Antonarakis S,Ventruto V,Duboule D

更新日期：2002-04-01 00:00:00

abstract：:The genes encoding human U2 small nuclear RNA are arrayed in tandem (the RNU2 locus) and have undergone concerted evolution for >35 Myr. Tandem organization of repetitive sequences may facilitate recombination that underlies concerted evolution, but could risk instability. Since DNA methylation plays a crucial role in...

journal_title：Genomics

authors： Jiang C,Liao D

更新日期：1999-12-15 00:00:00

abstract：:We have developed a graphical image database CancerProView (URL: http://cancerproview.dmb.med.keio.ac.jp/php/cpv.html) to assist the search for alterations of the motifs/domains in the cancer-related proteins that are caused by mutations in the corresponding genes. For the CancerProView, we have collected various kind...

journal_title：Genomics

authors： Mitsuyama S,Shimizu N

更新日期：2012-08-01 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：:We report the mapping of the human gene MPB1 (c-myc promoter binding protein), a recently identified gene regulatory protein. MPB1 binds to the c-myc P2 promoter and exerts a negative regulatory role on c-myc transcription. Since exogenous expression from transfection of the MPB1 gene suppresses the tumorigenic proper...

journal_title：Genomics

authors： White RA,Adkison LR,Dowler LL,Ray RB

更新日期：1997-02-01 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：:The human ubiquitin-homology domain protein PIC1 interacts with the acute promyelocytic leukemia protein PML, and both proteins form part of the large, nuclear, multiprotein complexes known as PML nuclear bodies. The normal punctate immunohistochemical staining pattern of these complexes is disrupted by viral infectio...

journal_title：Genomics

authors： Howe K,Williamson J,Boddy N,Sheer D,Freemont P,Solomon E

更新日期：1998-01-01 00:00:00

abstract：:Ciliary neurotrophic factor (CNTF) has recently been found to be important for the survival of motor neurons and has shown activity in animal models of amyotrophic lateral sclerosis (ALS). CNTF therefore holds promise as a treatment for ALS, and it and its receptor (CNTFR) are candidates for a gene involved in familia...

journal_title：Genomics

authors： Donaldson DH,Britt DE,Jones C,Jackson CL,Patterson D

更新日期：1993-09-01 00:00:00

abstract：:The extremely high proliferation rate of tumor cells contributes to pancreatic cancer (PC) progression. Runt-related transcription factor 1(RUNX1), a key factor in hematopoiesis that was correlated with tumor progression. However, the role of RUNX1 in PC proliferation was still unclear. We found that RUNX1 was signifi...

journal_title：Genomics

authors： Liu S,Xie F,Gan L,Peng T,Xu X,Guo S,Fu W,Wang Y,Ouyang Y,Yang J,Wang X,Zheng Y,Zhang J,Wang H

更新日期：2020-11-01 00:00:00

abstract：:A relatively abundant component of the polymorphonuclear leukocyte granulocytes has been recently isolated and called defensin. Defensins have antimicrobial activity against gram-positive and gram-negative bacteria and enveloped viruses. A cDNA insert for defensin HNP-1 (DEF1) has been used to map the gene(s) to human...

journal_title：Genomics

authors： Sparkes RS,Kronenberg M,Heinzmann C,Daher KA,Klisak I,Ganz T,Mohandas T

更新日期：1989-08-01 00:00:00

abstract：:We mapped a new X-linked recessive atrophic macular degeneration locus to Xp21.1-p11.4 and show allelic involvement of the gene RPGR, which normally causes severe peripheral retinal degeneration leading to global blindness. Ten affected males whom we examined had primarily macular atrophy causing progressive loss of v...

journal_title：Genomics

authors： Ayyagari R,Demirci FY,Liu J,Bingham EL,Stringham H,Kakuk LE,Boehnke M,Gorin MB,Richards JE,Sieving PA

更新日期：2002-08-01 00:00:00

abstract：:The complete coding sequence for mouse tropoelastin was obtained from overlapping reverse transcriptase polymerase chain reaction (PCR) amplimers. These cDNA fragments were derived from mouse tropoelastin mRNA using PCR oligomers complementary to conserved domains within rat tropoelastin mRNA. A comparison of coding d...

journal_title：Genomics

authors： Wydner KS,Sechler JL,Boyd CD,Passmore HC

更新日期：1994-09-01 00:00:00

abstract：:Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs. A major locus (SPG4) causing AD-HSP in about 40% of the families was mapped to chromosome 2p. The analysis of six SPG4-linked AD-HSP families using the RED proce...

journal_title：Genomics

authors： Hazan J,Davoine CS,Mavel D,Fonknechten N,Paternotte C,Fizames C,Cruaud C,Samson D,Muselet D,Vega-Czarny N,Brice A,Gyapay G,Heilig R,Fontaine B,Weissenbach J

更新日期：1999-09-15 00:00:00

abstract：:MicroRNAs control gene expression at the posttranscriptional level by base-pairing to the 3'-UTR of their target mRNAs, thus leading to mRNA degradation of protein fabrication. We hypothesize, SNPs within miRNAs and their targets could be of significance to an individual's risk of developing cancer. We analyzed in sil...

journal_title：Genomics

authors： Reshmi G,Surya R,Jissa VT,Babu PS,Preethi NR,Santhi WS,Jayaprakash PG,Pillai MR

更新日期：2011-09-01 00:00:00