XY sex reversal associated with a nonsense mutation in SRY.

abstract：:Glomerulopathy with fibronectin deposits (GFND, MIM 601894) is an autosomal dominant kidney disease that leads to terminal renal failure at a median age of 47 years. It represents a distinct entity of membranoproliferative glomerulonephritis (MPGN) type III and is characterized by the unique feature of massive glomeru...

journal_title：Genomics

authors： Vollmer M,Kremer M,Ruf R,Miot S,Nothwang HG,Wirth J,Otto E,Krapf R,Hildebrandt F

更新日期：2000-09-01 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：:Spatiotemporal expression of the PAX3 gene is tightly regulated during development. We have isolated and sequenced the 5'-flanking regulatory region of human PAX3. Primer extension and ribonuclease protection mapping revealed that transcription is initiated from a single start site downstream of a TATA-like motif in h...

journal_title：Genomics

authors： Okladnova O,Syagailo YV,Tranitz M,Riederer P,Stöber G,Mössner R,Lesch KP

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：:Sp4H is a semi-dominant mutation that maps to mouse chromosome 1. Heterozygous mice exhibit white spotting of the belly, whereas the fate of the homozygous embryos is unknown. We have previously shown that the entire coding region of the Pax3 gene is deleted in the Sp4H mutant. In this study, we have analyzed the fate...

journal_title：Genomics

authors： Fleming J,Pearce A,Brown SD,Steel KP

更新日期：1996-06-01 00:00:00

abstract：:Cardiac hypertrophy is an important risk factor for cardiac morbidity and mortality. To unravel the underlying pathogenic genetic pathways, we hybridized left ventricular RNA from Transverse Aortic Constriction mice at 48 h, 1 week, and 2, 3, and 8 weeks after surgery to microarrays containing a 15K fetal cDNA collect...

journal_title：Genomics

authors： van den Bosch BJ,Lindsey PJ,van den Burg CM,van der Vlies SA,Lips DJ,van der Vusse GJ,Ayoubi TA,Doevendans PA,Smeets HJ

更新日期：2006-10-01 00:00:00

abstract：:To elucidate the functional significance of genome multiplication in somatic tissues, we performed a large-scale analysis of ploidy-associated changes in expression of non-tissue-specific (i.e., broadly expressed) genes in the heart and liver of human and mouse (6585 homologous genes were analyzed). These species have...

journal_title：Genomics

authors： Anatskaya OV,Vinogradov AE

更新日期：2007-01-01 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

abstract：:The wealth of genomic technologies has enabled biologists to rapidly ascribe phenotypic characters to biological substrates. Central to effective biological investigation is the operational definition of the process under investigation. We propose an elucidation of categories of biological characters, including diseas...

journal_title：Genomics

authors： Baker EJ,Jay JJ,Philip VM,Zhang Y,Li Z,Kirova R,Langston MA,Chesler EJ

更新日期：2009-12-01 00:00:00

abstract：:The GM2 activator locus (GM2A) had previously been considered as a candidate gene for some forms of spinal muscular atrophy (SMA; mapped to 5q11.2-q13.3). It was eliminated as a possible candidate because PCR-based mapping failed to localize the gene to chromosome 5, as was previously reported using an ELISA-based met...

journal_title：Genomics

authors： Heng HH,Xie B,Shi XM,Tsui LC,Mahuran DJ

更新日期：1993-11-01 00:00:00

abstract：:A mouse inositol polyphosphate 1-phosphatase (Inpp1) cDNA fragment (348 bp) was amplified by means of the polymerase chain reaction using a mouse cDNA library as template with primers designed from published human and bovine cDNA sequences. We isolated a 1623-bp full-length Inpp1 cDNA from a mouse brain cDNA library u...

journal_title：Genomics

authors： Okabe I,Nussbaum RL

更新日期：1995-11-20 00:00:00

abstract：:We have determined the chromosomal localization of four human homeobox-containing genes, EMX1, EMX2, OTX1, and OTX2, related to Drosophila genes expressed in the developing head of the fly. Murine homologs of these genes are expressed in specific nested domains in the developing rostral brain of midgestation embryos. ...

journal_title：Genomics

authors： Kastury K,Druck T,Huebner K,Barletta C,Acampora D,Simeone A,Faiella A,Boncinelli E

更新日期：1994-07-01 00:00:00

abstract：:A human clone corresponding to the gene for the DNA-binding factor LFB3, a protein highly homologous to the liver-specific transcription factor LFB1, has been isolated and partially sequenced. This gene is designated TCF2. Oligonucleotide primers have been designed for LFB3 and used to amplify specifically the human g...

journal_title：Genomics

authors： Abbott C,Piaggio G,Ammendola R,Solomon E,Povey S,Gounari F,De Simone V,Cortese R

更新日期：1990-09-01 00:00:00

abstract：:The behaviors of autism overlap with a diverse array of other neurological disorders, suggesting common molecular mechanisms. We conducted a large comparative analysis of the network of genes linked to autism with those of 432 other neurological diseases to circumscribe a multi-disorder subcomponent of autism. We leve...

journal_title：Genomics

authors： Wall DP,Esteban FJ,Deluca TF,Huyck M,Monaghan T,Velez de Mendizabal N,Goñí J,Kohane IS

更新日期：2009-02-01 00:00:00

abstract：:Creating transgenic mice is an important technology for genetic studies and is currently performed by pronuclear microinjection of plasmid DNA into fertilized eggs. Since survival of injected embryos and integration of plasmid DNA are not efficient, total efficiency is only around 3% with a standard protocol. To circu...

journal_title：Genomics

authors： Sumiyama K,Kawakami K,Yagita K

更新日期：2010-05-01 00:00:00

abstract：:The frizzled (fz) locus in Drosophila is required for the transmission of polarity signals across the plasma membrane in epidermal cells, as well as to their neighboring cells in the developing wing. The identification of a tissue polarity gene from the fz locus in Drosophila melanogaster has been reported. The fz gen...

journal_title：Genomics

authors： Zhao Z,Lee CC,Baldini A,Caskey CT

更新日期：1995-05-20 00:00:00

abstract：:Overlapping DNA fragments spanning approximately 21 kb of genomic DNA and encompassing the human 4-hydroxyphenylpyruvate dioxygenase gene (HPD) have been cloned by screening a human leukocyte genomic library and by PCR amplification of human fibroblastic DNA. A continuous gene sequence of 20,890 nucleotides was establ...

journal_title：Genomics

authors： Rüetschi U,Rymo L,Lindstedt S

更新日期：1997-09-15 00:00:00

abstract：:Prostaglandin EP3 receptor subtype is a seven-membrane-spanning protein with multiple C-terminal tails generated by alternative mRNA splicing. We report here the structural organization of the human EP3 gene (PTGER3). The human EP3 gene spanned more than 80 kb and was composed of 10 exons separated by nine introns. Ex...

journal_title：Genomics

authors： Kotani M,Tanaka I,Ogawa Y,Usui T,Tamura N,Mori K,Narumiya S,Yoshimi T,Nakao K

更新日期：1997-03-15 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：:Environmental decline triggers a switch in reproductive strategy of Daphnia magna from asexual to sexual reproduction; however, the molecular basis of such environmental sex determination remains largely unknown. In insects most closely related to branchiopod crustaceans, orthologs of the Drosophila transformer gene s...

journal_title：Genomics

authors： Kato Y,Kobayashi K,Oda S,Tatarazako N,Watanabe H,Iguchi T

更新日期：2010-03-01 00:00:00

abstract：:The major component of the vascular and plaque amyloid deposits in Alzheimer disease is the amyloid beta peptide (A beta). A second intrinsic component of amyloid, the NAC (non-A beta component of amyloid) peptide, has recently been identified, and its precursor protein was named NACP. A computer homology search allow...

journal_title：Genomics

authors： Campion D,Martin C,Heilig R,Charbonnier F,Moreau V,Flaman JM,Petit JL,Hannequin D,Brice A,Frebourg T

更新日期：1995-03-20 00:00:00

abstract：:Retinal degeneration slow (rds) is a mouse neurological mutation that is characterized phenotypically by abnormal development of rod and cone photoreceptors followed by their slow degeneration. This phenotype resembles the pathologic abnormalities seen in retinitis pigmentosa. The mouse rds gene has recently been clon...

journal_title：Genomics

authors： Travis GH,Christerson L,Danielson PE,Klisak I,Sparkes RS,Hahn LB,Dryja TP,Sutcliffe JG

更新日期：1991-07-01 00:00:00

abstract：:Although 338 genetic loci and 1 or more candidate tumor suppressor genes have been assigned to chromosome 6, the physical and genetic map of this chromosome is at a very preliminary stage. In this study, we have performed subregional localization of 20 single-copy DNA sequences previously assigned to chromosome 6 usin...

journal_title：Genomics

authors： Rao PH,Murty VV,Gaidano G,Hauptschein R,Dalla-Favera R,Chaganti RS

更新日期：1993-05-01 00:00:00

abstract：:Several studies have reported significant linkage for schizophrenia on 6p23, with a maximum lod score between D6S274 and D6S285. In this paper, we present a new human kinesin gene localized in this 2-cM interval. This gene, termed KIF13A, belongs to the unc-104/KIF1A kinesin subfamily and represents the orthologue of ...

journal_title：Genomics

authors： Jamain S,Quach H,Fellous M,Bourgeron T

更新日期：2001-05-15 00:00:00

abstract：:Aldehyde reductase (EC 1.1.1.2; AKR1A1) is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. To study the regulation of its expression, the human aldehyde reductase gene and promoter were cloned and characterized. The protein coding region consists of eight exons,...

journal_title：Genomics

authors： Barski OA,Gabbay KH,Bohren KM

更新日期：1999-09-01 00:00:00

abstract：UNLABELLED:Pancreatic cancer is one of the most aggressive malignant tumors, mainly due to an aggressive metastasis spreading. In recent years, circulating tumor cells became associated to tumor metastasis. Little is known about their expression profiles. The aim of this study was to develop a complete workflow making ...

journal_title：Genomics

authors： Görner K,Bachmann J,Holzhauer C,Kirchner R,Raba K,Fischer JC,Martignoni ME,Schiemann M,Alunni-Fabbroni M

更新日期：2015-07-01 00:00:00

abstract：:Non-coding RNA is no longer considered to be "junk" DNA, based on evidence uncovered in recent decades. In particular, the important role played by natural antisense transcripts (NATs) in regulating the expression of genes is receiving increasing attention. However, the regulatory mechanisms of NATs remain incompletel...

journal_title：Genomics

authors： Jung J,Lee S,Cho HS,Park K,Ryu JW,Jung M,Kim J,Kim H,Kim DS

更新日期：2019-03-01 00:00:00

abstract：:Comparative genetic analysis between human and chimpanzee may detect genetic divergences responsible for human-specific characteristics. Previous studies have identified a series of genes that potentially underwent Darwinian positive selection during human evolution. However, without a closely related species as outgr...

journal_title：Genomics

authors： Yu XJ,Zheng HK,Wang J,Wang W,Su B

更新日期：2006-12-01 00:00:00

abstract：:The Long Evans cinnamon (LEC) rat is highly susceptible to X-irradiation due to defective DNA repair and is thus a model for hepatocellular carcinogenesis. We constructed a bacterial artificial chromosome (BAC) contig of rat chromosome 4 completely covering the region associated with radiation susceptibility. We used ...

journal_title：Genomics

authors： Tsuji AB,Sugyo A,Sudo H,Sagara M,Ishikawa A,Ohtsuki M,Kimura T,Ogiu T,Miyagishi M,Taira K,Imai T,Harada YN

更新日期：2006-02-01 00:00:00

abstract：:Vertebrate tissue inhibitors of metalloproteinases (TIMPs) regulate extracellular matrix metalloproteinases and are thus involved in a wide variety of developmental and physiological processes. By identifying cDNAs of a transcript detected within an intron of the Drosophila synapsin gene we have cloned the Drosophila ...

journal_title：Genomics

authors： Pohar N,Godenschwege TA,Buchner E

更新日期：1999-04-15 00:00:00