Genomes and Genes
Experts and Doctors on introns in Germany
Publications259 found, 100 shown here
- Böger C, Fischereder M, Deinzer M, Aslanidis C, Schmitz G, Stubanus M, et al. RANTES gene polymorphisms predict all-cause and cardiac mortality in type 2 diabetes mellitus hemodialysis patients. Atherosclerosis. 2005;183:121-9 pubmed..Further study of the role of chemokine and chemokine receptor gene variation in determining vascular end points is needed. ..
- Zemojtel T, Penzkofer T, Schultz J, Dandekar T, Badge R, Vingron M. Exonization of active mouse L1s: a driver of transcriptome evolution?. BMC Genomics. 2007;8:392 pubmed
- Worheide G, Epp L, Macis L. Deep genetic divergences among Indo-Pacific populations of the coral reef sponge Leucetta chagosensis (Leucettidae): founder effects, vicariance, or both?. BMC Evol Biol. 2008;8:24 pubmed publisher..The genetic diversity and biodiversity of tropical Indo-Pacific sponges appears to be substantially underestimated since the high level of genetic divergence is not necessarily manifested at the morphological level. ..
- Dayoub R, Groitl P, Dobner T, Bosserhoff A, Schlitt H, Weiss T. Foxa2 (HNF-3beta) regulates expression of hepatotrophic factor ALR in liver cells. Biochem Biophys Res Commun. 2010;395:465-70 pubmed publisher..In addition, we could not detect any binding of C/EBPbeta and IL-6 RE-BP to the promoter of ALR. In conclusion, these results indicate that ALR is regulated by Foxa2, and this regulation may be amplified by IL-6. ..
- Kostrzewa M, Muller U. Genomic structure and complete sequence of the human FGFR4 gene. Mamm Genome. 1998;9:131-5 pubmed..The STRPs together with the sequence information will facilitate the rapid analysis of FGFR4 in those human disorders in which this gene can be considered a candidate. ..
- Stemmler M, Hecht A, Kemler R. E-cadherin intron 2 contains cis-regulatory elements essential for gene expression. Development. 2005;132:965-76 pubmed..Taken together, our findings reveal a complex mechanism of gene regulation, with a vital role for the large intron 2. ..
- Weikard R, Kuhn C, Goldammer T, Freyer G, Schwerin M. The bovine PPARGC1A gene: molecular characterization and association of an SNP with variation of milk fat synthesis. Physiol Genomics. 2005;21:1-13 pubmed
- Voelter Mahlknecht S, Ho A, Mahlknecht U. Chromosomal organization and localization of the novel class IV human histone deacetylase 11 gene. Int J Mol Med. 2005;16:589-98 pubmed..88. Fluorescence in situ hybridization analysis localized the human HDAC11 gene to chromosome 3p25, a region characterized by frequent gains and losses of chromosomal material in a number of various types of cancer. ..
- Guldner H, Szostecki C, Schroder P, Matschl U, Jensen K, Luders C, et al. Splice variants of the nuclear dot-associated Sp100 protein contain homologies to HMG-1 and a human nuclear phosphoprotein-box motif. J Cell Sci. 1999;112 ( Pt 5):733-47 pubmed..Furthermore, PML was occasionally redistributed. These data indicate that alternatively spliced Sp100 proteins are expressed, differ in part in localization from Sp100, and might bind to chromatin via the HMG domain. ..
- Xing X, Burgermeister E, Geisler F, Einwächter H, Fan L, Hiber M, et al. Hematopoietically expressed homeobox is a target gene of farnesoid X receptor in chenodeoxycholic acid-induced liver hypertrophy. Hepatology. 2009;49:979-88 pubmed publisher..HEX/Hex is a novel bile acid-induced FXR/Fxr target gene during adaptation of hepatocytes to chronic bile acid exposure. ..
- Dodemont H, Riemer D, Ledger N, Weber K. Eight genes and alternative RNA processing pathways generate an unexpectedly large diversity of cytoplasmic intermediate filament proteins in the nematode Caenorhabditis elegans. EMBO J. 1994;13:2625-38 pubmed..Minimally 12 distinct IF proteins are encoded by the various mRNAs. Different abundances in mixed-stage nematode populations suggest cell type- and/or stage-specific expression of individual mRNAs. ..
- Romig H, Ruff J, Fackelmayer F, Patil M, Richter A. Characterisation of two intronic nuclear-matrix-attachment regions in the human DNA topoisomerase I gene. Eur J Biochem. 1994;221:411-9 pubmed
- Zapp D, Bartkowski S, Zoidl C, Klein Hitpass L, Ryffel G. Genomic structure of the Xenopus laevis liver transcription factor LFB1. Gene. 1993;134:251-6 pubmed..This is in agreement with the structure found in the rat gene and supports the notion that the LFB1 homeobox evolved separately from the other genes encoding homeodomain proteins. ..
- Gehrig A, Schmidt S, Muller C, Srsen S, Srsnova K, Kress W. Molecular defects in alkaptonuria. Cytogenet Cell Genet. 1997;76:14-6 pubmed..The data formally establish the homogentisate 1,2 dioxygenase gene (HGD) as the molecular cause of alkaptonuria and allow for the development of molecular carrier tests in populations at risk. ..
- Moller G, Leenders F, van Grunsven E, Dolez V, Qualmann B, Kessels M, et al. Characterization of the HSD17B4 gene: D-specific multifunctional protein 2/17beta-hydroxysteroid dehydrogenase IV. J Steroid Biochem Mol Biol. 1999;69:441-6 pubmed..We have now checked the consequences of one frequent mutation, G16 S, which results in inactivation of the enzyme due to loss of interaction with NAD+. ..
- Leeb T, Doppe A, Kriegesmann B, Brenig B. Genomic structure and nucleotide polymorphisms of the porcine agouti signalling protein gene (ASIP). Anim Genet. 2000;31:335-6 pubmed
- Hayer M, Bonisch H, Bruss M. Molecular cloning, functional characterization and genomic organization of four alternatively spliced isoforms of the human organic cation transporter 1 (hOCT1/SLC22A1). Ann Hum Genet. 1999;63:473-82 pubmed..When stably expressed in human embryonic kidney (HEK293) cells, only the full length hOCT1 cDNA mediated decynium-22 (D22)-sensitive uptake of tritiated 1-methyl-4-phenylpyridinium ([3H]-MPP+). ..
- Mujica A, Hankeln T, Schmidt E. A novel serine/threonine kinase gene, STK33, on human chromosome 11p15.3. Gene. 2001;280:175-81 pubmed..9 (1995) 576]. STK33 shows a differential expression in a variety of normal and malignant tissues. ..
- Glanz S, Bunse A, Wimbert A, Balczun C, Kück U. A nucleosome assembly protein-like polypeptide binds to chloroplast group II intron RNA in Chlamydomonas reinhardtii. Nucleic Acids Res. 2006;34:5337-51 pubmed..These data indicate that the chloroplast protein described here is a novel member of the NAP family and most probably has not been acquired from a prokaryotic endosymbiont. ..
- Wibberg D, Jelonek L, Rupp O, Hennig M, Eikmeyer F, Goesmann A, et al. Establishment and interpretation of the genome sequence of the phytopathogenic fungus Rhizoctonia solani AG1-IB isolate 7/3/14. J Biotechnol. 2013;167:142-55 pubmed publisher..Exons have a mean length of 214 bp, whereas introns on average are 66 bp in length. Annotation of the genome revealed that 4169 of 12,422 genes could be assigned to KOG functional categories. ..
- Eberst R, Dai S, Klugbauer N, Hofmann F. Identification and functional characterization of a calcium channel gamma subunit. Pflugers Arch. 1997;433:633-7 pubmed
- Hofmann A, Lehmann M. The transcriptional switch between the Drosophila genes Pig-1 and Sgs-4 depends on a SEBP1 binding site within a shared enhancer region. Mol Gen Genet. 1998;259:656-63 pubmed
- Muller C, Fregin A, Srsen S, Srsnova K, Halliger Keller B, Felbor U, et al. Allelic heterogeneity of alkaptonuria in Central Europe. Eur J Hum Genet. 1999;7:645-51 pubmed
- Fischer U, Hemmer D, Heckel D, Michel A, Feiden W, Steudel W, et al. KUB3 amplification and overexpression in human gliomas. Glia. 2001;36:1-10 pubmed..The KUB3 amplification and overexpression may interfere with the function of KUB3 in the DNA-PK complex involved in the maintenance of genome stability and reduction of mutation frequency. ..
- Karls U, Muller U, Gilbert D, Copeland N, Jenkins N, Harbers K. Structure, expression, and chromosome location of the gene for the beta subunit of brain-specific Ca2+/calmodulin-dependent protein kinase II identified by transgene integration in an embryonic lethal mouse mutant. Mol Cell Biol. 1992;12:3644-52 pubmed..Transgene integration is accompanied by a large deletion of cellular DNA; death is therefore most likely caused by the loss of a gene or genes that are important for early postimplantation development. ..
- Schnülle V, Antropova O, Gronemeier M, Wedemeyer N, Jockusch H, Bartsch J. The mouse Clc1/myotonia gene: ETn insertion, a variable AATC repeat, and PCR diagnosis of alleles. Mamm Genome. 1997;8:718-25 pubmed..Close to the 3' end of intron 12, a tetranucleotide repeat (AATC)n was found that is polymorphic between mouse species Mus musculus, M. molossinus, M. castaneus, and M. spretus, and can thus be used for chromosomal mapping studies. ..
- Peter M, Bunger K, Drop S, Sippell W. Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studies. Eur J Endocrinol. 1998;139:96-100 pubmed
- Ciana P, Braliou G, Demay F, von Lindern M, Barettino D, Beug H, et al. Leukemic transformation by the v-ErbA oncoprotein entails constitutive binding to and repression of an erythroid enhancer in vivo. EMBO J. 1998;17:7382-94 pubmed..Taken together, our data suggest that v-ErbA prevents CAII activation by 'neutralizing' in cis the activity of erythroid transcription factors. ..
- Rupec R, Poujol D, Grosgeorge J, Carle G, Livolsi A, Peyron J, et al. Structural analysis, expression, and chromosomal localization of the mouse ikba gene. Immunogenetics. 1999;49:395-403 pubmed..The cloning and determination of the structure are a prerequisite for the construction of vectors for conditional gene targeting experiments. ..
- Hübener C, Mincheva A, Lichter P, Schraven B, Bruyns E. Genomic organization and chromosomal localization of the human gene encoding the T-cell receptor-interacting molecule (TRIM). Immunogenetics. 2000;51:154-8 pubmed
- Mehling A, Loser K, Varga G, Metze D, Luger T, Schwarz T, et al. Overexpression of CD40 ligand in murine epidermis results in chronic skin inflammation and systemic autoimmunity. J Exp Med. 2001;194:615-28 pubmed
- Haberle J, Schmidt E, Pauli S, Rapp B, Christensen E, Wermuth B, et al. Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset. Hum Mutat. 2003;21:444 pubmed..New data on the genomic structure of the CPS1 gene provided in this study are useful to characterize the heterogenous molecular basis of the disease in patients deficient for carbamylphosphate 1 deficiency. ..
- Zimek A, Weber K. In contrast to the nematode and fruit fly all 9 intron positions of the sea anemone lamin gene are conserved in human lamin genes. Eur J Cell Biol. 2008;87:305-9 pubmed publisher..Here the lamin genes have much fewer introns and these occur often at novel positions. In the single nematode lamin gene and the Drosophila lamin Dmo gene no intron position coincides with an intron in the sea anemone lamin gene. ..
- Weinspach S, Siepermann M, Schaper J, Sarikaya Seiwert S, Rieder H, Gerigk M, et al. Intracranial hemorrhage in a female leading to the diagnosis of severe hemophilia A and Turner syndrome. Klin Padiatr. 2009;221:167-71 pubmed publisher..Repetitive prolonged aPTT and clinical bleeding signs should lead to further hemostasiological investigations. An algorithm for hemostasiological investigations in case of unexplained clinical bleeding is given. ..
- Janssen U, Fink T, Lichter P, Stoffel W. Human mitochondrial 3,2-trans-enoyl-CoA isomerase (DCI): gene structure and localization to chromosome 16p13.3. Genomics. 1994;23:223-8 pubmed..The human DCI gene locus was assigned to chromosome 16 by use of human-rodent somatic cell hybrids and to chromosome 16p13.3 by chromosomal in situ suppression hybridization studies. ..
- Stober G, Nöthen M, Porzgen P, Bruss M, Bonisch H, Knapp M, et al. Systematic search for variation in the human norepinephrine transporter gene: identification of five naturally occurring missense mutations and study of association with major psychiatric disorders. Am J Med Genet. 1996;67:523-32 pubmed..The detection of a highly polymorphic silent 1287G/A polymorphism was utilized to demonstrate biallelic expression of the NET in adult human brain. ..
- Glienke J, Sobanov Y, Brostjan C, Steffens C, Nguyen C, Lehrach H, et al. The genomic organization of NKG2C, E, F, and D receptor genes in the human natural killer gene complex. Immunogenetics. 1998;48:163-73 pubmed..NKG2F consists of only four exons and part of exon IV is in some cases spliced to the 5' end of the NKG2D transcript. NKG2D has only a low similarity to the other NKG2 genes. ..
- Biervert C, Steinlein O. Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. Hum Genet. 1999;104:234-40 pubmed..In addition to facilitating more effective mutation detection among BFNC patients, the results presented here provide the basis for analysing the role of KCNQ2 in other types of epilepsy. ..
- Fischer U, Pollard V, Luhrmann R, Teufel M, Michael M, Dreyfuss G, et al. Rev-mediated nuclear export of RNA is dominant over nuclear retention and is coupled to the Ran-GTPase cycle. Nucleic Acids Res. 1999;27:4128-34 pubmed..Finally, we demonstrate that Rev/RRE-activated RNA export is, like other nuclear export pathways, linked to the Ran-GTPase cycle. ..
- Gründemann D, Schomig E. Gene structures of the human non-neuronal monoamine transporters EMT and OCT2. Hum Genet. 2000;106:627-35 pubmed..Since EMT and OCT2 may play important roles in catecholamine homeostasis and, as such, are candidate genes in human disease, the present results provide a basis for the analysis of genetic variation and the regulation of transcription. ..
- Kurek R, Reugels A, Lammermann U, Bünemann H. Molecular aspects of intron evolution in dynein encoding mega-genes on the heterochromatic Y chromosome of Drosophila sp. Genetica. 2000;109:113-23 pubmed..Size control by recombination, on the other hand, is suppressed in Drosophila males by achiasmatic meiosis. ..
- Engel T, Lorkowski S, Lueken A, Rust S, Schluter B, Berger G, et al. The human ABCG4 gene is regulated by oxysterols and retinoids in monocyte-derived macrophages. Biochem Biophys Res Commun. 2001;288:483-8 pubmed..6 kb in size on chromosome 11q23.3. Based on its structural features and an LXR/RXR-responsive regulation similar to the cellular lipid export protein ABCA1, we conclude that ABCG4 may be involved in macrophage lipid homeostasis...
- Schulze Bahr E, Neu A, Friederich P, Kaupp U, Breithardt G, Pongs O, et al. Pacemaker channel dysfunction in a patient with sinus node disease. J Clin Invest. 2003;111:1537-45 pubmed..Taken together, the clinical, genetic, and in vitro data provide a likely explanation for the patient's sinus bradycardia and the chronotropic incompetence. ..
- Voelter Mahlknecht S, Letzel S, Mahlknecht U. Fluorescence in situ hybridization and chromosomal organization of the human Sirtuin 7 gene. Int J Oncol. 2006;28:899-908 pubmed..Functional characteristics of SIRT7 are essentially unknown at present and remain to be further elucidated. ..
- Kumar A, Ragg H. Ancestry and evolution of a secretory pathway serpin. BMC Evol Biol. 2008;8:250 pubmed publisher..It is shown that the intron distribution pattern of neuroserpin gene orthologs has undergone substantial rearrangements during metazoan evolution. ..
- Hofferbert S, Burfeind P, Hoyer Fender S, Lange R, Haidl G, Engel W. A homozygous deletion of 27 basepairs in the coding region of the human outer dense fiber protein gene does not result in a pathologic phenotype. Hum Mol Genet. 1993;2:2167-70 pubmed
- Rickert R, Roes J, Rajewsky K. B lymphocyte-specific, Cre-mediated mutagenesis in mice. Nucleic Acids Res. 1997;25:1317-8 pubmed..In a model system involving the cross of CD19-Cre mice with mice bearing a loxP -flanked substrate, we find a deletion efficiency of 75-80% in bone marrow-derived pre-B cells that increases to 90-95% in splenic B cells. ..
- Sudbrak R, Brown J, Dobson Stone C, Carter S, Ramser J, White J, et al. Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump. Hum Mol Genet. 2000;9:1131-40 pubmed
- Lorkowski S, Rust S, Engel T, Jung E, Tegelkamp K, Galinski E, et al. Genomic sequence and structure of the human ABCG1 (ABC8) gene. Biochem Biophys Res Commun. 2001;280:121-31 pubmed..Nevertheless, both promoters responded in macrophages to stimulation by hydroxycholesterol and retinoic acid...
- Backofen B, Jacob R, Serth K, Gossler A, Naim H, Leeb T. Cloning and characterization of the mammalian-specific nicolin 1 gene (NICN1) encoding a nuclear 24 kDa protein. Eur J Biochem. 2002;269:5240-5 pubmed..The highest NICN1 expression levels are found in brain, testis, liver, and kidney. On the other hand the NICN1 expression is weak in spleen, leukocytes, small intestine and colon. The NICN1 gene is also expressed during development. ..
- Hallmann A. The pherophorins: common, versatile building blocks in the evolution of extracellular matrix architecture in Volvocales. Plant J. 2006;45:292-307 pubmed..Pherophorins have therefore been a versatile element during the evolution of ECM architecture in these green algae. ..
- Naumann J, Der J, Wafula E, Jones S, Wagner S, Honaas L, et al. Detecting and Characterizing the Highly Divergent Plastid Genome of the Nonphotosynthetic Parasitic Plant Hydnora visseri (Hydnoraceae). Genome Biol Evol. 2016;8:345-63 pubmed publisher..visseri. A four-stage model of gene reduction, including the potential for complete plastome loss, is proposed to account for the range of plastid genomes in nonphotosynthetic plants. ..
- Brugiolo M, Botti V, Liu N, Müller McNicoll M, Neugebauer K. Fractionation iCLIP detects persistent SR protein binding to conserved, retained introns in chromatin, nucleoplasm and cytoplasm. Nucleic Acids Res. 2017;45:10452-10465 pubmed publisher..Hence, Fr-iCLIP detects the cellular location of RNA-protein interactions and provides insight into co-transcriptional, post-transcriptional and cytoplasmic RBP functions for coding and non-coding RNAs...
- Hong Y, Schartl M. Structure of the rainbow trout metallothionein A gene. Gene. 1992;120:277-9 pubmed..The transcription start point is centered around an A residue 81 nt upstream of the ATG codon. ..
- Gossen M, Wüllrich A, Kilimann M. Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13. Hum Genet. 1995;95:469-70 pubmed..It should be a useful marker for linkage analysis of families with heritable phosphorylase kinase deficiency and for gene mapping in the vicinity of the X inactivation center. ..
- Jonas P, Phannavong B, Schuster R, Schroder C, Gundelfinger E. Expression of the ligand-binding nicotinic acetylcholine receptor subunit D alpha 2 in the Drosophila central nervous system. J Neurobiol. 1994;25:1494-508 pubmed..Between 1.7 and 7.3 kb upstream of the transcription start site one or more elements that are required for D alpha 2 expression in optic lobe tangential cells are located. ..
- Lorenz C, Meyer Kleine C, Steinmeyer K, Koch M, Jentsch T. Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. Hum Mol Genet. 1994;3:941-6 pubmed..Functional expression of R496S cRNA in Xenopus oocytes did not yield detectable currents. It neither suppressed wild-type currents in a co-expression assay, confirming it as a recessive mutation. ..
- Burfeind P, Belgardt B, Szpirer C, Hoyer Fender S. Structure and chromosomal assignment of a gene encoding the major protein of rat sperm outer dense fibres. Eur J Biochem. 1993;216:497-505 pubmed..By immunoblotting and immunocytochemistry, it was demonstrated that the isolated gene encodes a major protein of rat sperm outer dense fibres. ..
- Kouba M, Vanetti M, Wang X, Schafer M, Hollt V. Cloning of a novel putative G-protein-coupled receptor (NLR) which is expressed in neuronal and lymphatic tissue. FEBS Lett. 1993;321:173-8 pubmed..5 kb mRNA species in various brain regions and neuronal cell lines, whereas in the spleen a 3 kb transcript is predominant. This distribution suggests a role of NLR in the nervous and immune systems. ..
- Weichenhan D, Kunze B, Traut W, Winking H. Evolution by fusion and amplification: the murine Sp100-rs gene cluster. Cytogenet Cell Genet. 1998;80:226-31 pubmed..The Sp100-rs gene cluster probably evolved by gene fusion followed by amplification and diversification. ..
- Jaszai J, Farkas L, Galter D, Reuss B, Strelau J, Unsicker K, et al. GDNF-related factor persephin is widely distributed throughout the nervous system. J Neurosci Res. 1998;53:494-501 pubmed..We conclude that PSP is synthesized throughout the nervous system and that it is presumably of both astroglial and neuronal origin, in contrast to GDNF and neurturin, which seem to be predominantly of neuronal origin. ..
- Paxian S, Liptay S, Adler G, Hameister H, Schmid R. Genomic organization and chromosomal mapping of mouse nuclear factor kappa B 2 (NFKB2). Immunogenetics. 1999;49:743-50 pubmed..NFKB2 is ubiquitously expressed, highest in lymph nodes and thymus, underlining its role in the immune function. ..
- Engemann S, Strödicke M, Paulsen M, Franck O, Reinhardt R, Lane N, et al. Sequence and functional comparison in the Beckwith-Wiedemann region: implications for a novel imprinting centre and extended imprinting. Hum Mol Genet. 2000;9:2691-706 pubmed..One of the genes outside the cluster, Obph1, is imprinted in mouse placenta indicating that at least in extra-embryonic tissues the imprinting cluster extends into a larger domain. ..
- Tang T, Rozhdestvensky T, d Orval B, Bortolin M, Huber H, Charpentier B, et al. RNomics in Archaea reveals a further link between splicing of archaeal introns and rRNA processing. Nucleic Acids Res. 2002;30:921-30 pubmed..This supports the notion that it might have an important but still unknown role in pre-rRNA biogenesis or might even target RNA molecules other than rRNA. ..
- Biermann R, Schnittger L, Beyer D, Ahmed J. Initiation of translation and cellular localization of Theileria annulata casein kinase IIalpha: implication for its role in host cell transformation. J Cell Physiol. 2003;196:444-53 pubmed..On the basis of the above findings it seems highly unlikely that export via the classical pathway of the parasite CKIIalpha is the way in which this protein possibly contributes to host cell transformation. ..
- Schaffeld M, Schultess J. Genes coding for intermediate filament proteins closely related to the hagfish "thread keratins (TK)" alpha and gamma also exist in lamprey, teleosts and amphibians. Exp Cell Res. 2006;312:1447-62 pubmed
- Gebert C, Wrenzycki C, Herrmann D, Gröger D, Reinhardt R, Hajkova P, et al. The bovine IGF2 gene is differentially methylated in oocyte and sperm DNA. Genomics. 2006;88:222-9 pubmed..Our study is the first report of a differentially methylated region in a bovine imprinted gene discovered by the analysis of female and male gametes. ..
- Funk H, Berg S, Krupinska K, Maier U, Krause K. Complete DNA sequences of the plastid genomes of two parasitic flowering plant species, Cuscuta reflexa and Cuscuta gronovii. BMC Plant Biol. 2007;7:45 pubmed..reflexa to a restricted photosynthetic activity and degenerated chloroplasts in C. gronovii to an achlorophyllous state in E. virginiana...
- Michael G, Cardoso M, Schwarz S. Molecular analysis of multiresistant porcine Salmonella enterica subsp. enterica serovar Bredeney isolates from Southern Brazil: identification of resistance genes, integrons and a group II intron. Int J Antimicrob Agents. 2008;32:120-9 pubmed publisher..This study revealed a wide genomic variety among the S. Bredeney isolates, and the high number of multiresistant isolates may point towards the risks that these S. Bredeney isolates can represent to human health. ..
- Schessl J, Kress W, Schoser B. Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. Muscle Nerve. 2012;45:740-2 pubmed publisher..Mutations in the anoctamin 5 gene (ANO5) have been recently identified.They cause limb girdle muscular dystrophy (LGMD2L) and Miyoshi muscular dystrophy...
- Mayer A, Rohrschneider K, Strom T, GlÃ¶ckle N, Kohl S, Wissinger B, et al. Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation. Eur J Hum Genet. 2016;24:459-62 pubmed publisher..Sequencing the entire genomic regions of known disease genes might identify more causal mutations in the autosomal recessive form of CRD. ..
- Wolff G, Burger G, Lang B, Kuck U. Mitochondrial genes in the colourless alga Prototheca wickerhamii resemble plant genes in their exons but fungal genes in their introns. Nucleic Acids Res. 1993;21:719-26 pubmed..Our finding of highly similar introns in fungi and algae is consistent with the idea that introns have already been present in the bacterial ancestors of present day mitochondria and evolved concomitantly with the organelles. ..
- Theil T, Zechner U, Klett C, Adolph S, Moroy T. Chromosomal localization and sequences of the murine Brn-3 family of developmental control genes. Cytogenet Cell Genet. 1994;66:267-71 pubmed..Fluorescence in situ hybridization experiments with mouse chromosomes showed that Brn-3a maps to mouse chromosome 14E1-3, Brn-3b to XF1-5 and Brn-3c to 18B3-E1. ..
- Coblenz A, Wolf K. Gcs1, a gene encoding gamma-glutamylcysteine synthetase in the fission yeast Schizosaccharomyces pombe. Yeast. 1995;11:1171-7 pubmed..In comparison with the Saccharomyces cerevisiae homologue it possesses 41% identical and 74% similar amino acids. ..
- Kohler J, Schäfer Preuss S, Buttgereit D. Related enhancers in the intron of the beta1 tubulin gene of Drosophila melanogaster are essential for maternal and CNS-specific expression during embryogenesis. Nucleic Acids Res. 1996;24:2543-50 pubmed..We suggest that the beta1 tubulin gene represents an ideal marker gene to elucidate connections between pro-neural or neurogenic genes and downstream target genes throughout the CNS. ..
- Hollemann T, Schuh R, Pieler T, Stick R. Xenopus Xsal-1, a vertebrate homolog of the region specific homeotic gene spalt of Drosophila. Mech Dev. 1996;55:19-32 pubmed..The pattern of expression suggests that Xsal-1 might be under control of signals emanating from the notochord and/or the floor plate and that it might function in neuronal cell specification. ..
- Marquardt A, Stohr H, Passmore L, Kramer F, Rivera A, Weber B. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Hum Mol Genet. 1998;7:1517-25 pubmed..In conclusion, our data provide strong evidence that mutations in the gene that we have identified cause Best's disease. ..
- Bergsdorf C, Paliga K, Kreger S, Masters C, Beyreuther K. Identification of cis-elements regulating exon 15 splicing of the amyloid precursor protein pre-mRNA. J Biol Chem. 2000;275:2046-56 pubmed..Finally, grafting experiments demonstrated that these regulatory regions cell-specifically enhance the blockage of a chimeric exon in the non-neuronal splicing system. ..
- Vorgerd M, Burwinkel B, Reichmann H, Malin J, Kilimann M. Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients. Neurogenetics. 1998;1:205-11 pubmed..In conclusion, we observed pronounced allelic heterogeneity and an unexpectedly high frequency of homozygosity for larger in-frame deletions within the GAA coding sequence in German adult-onset GSDII patients. ..
- Kornak U, Schulz A, Friedrich W, Uhlhaas S, Kremens B, Voit T, et al. Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. Hum Mol Genet. 2000;9:2059-63 pubmed..Our work shows that mutations in the gene encoding the a3 subunit of the proton pump are a rather common cause of infantile osteopetrosis and suggests that this disease is genetically heterogeneous. ..
- Schmidt P, Kuhn C, Maillard J, Pitra C, Tiemann U, Weikard R, et al. A comprehensive survey for polymorphisms in the bovine IFN-gamma gene reveals a highly polymorphic intronic DNA sequence allowing improved genotyping of Bovinae. J Interferon Cytokine Res. 2002;22:923-34 pubmed..Genotyping of randomly sampled Holstein Friesian cows at selected SNPs and of both intron 1 microsatellites revealed two dominant BoIFNG microhaplotypes. The detected SNPs improve the recently reported genotyping system of cattle. ..
- Ramos S, Khademi F, Somesh B, Rivero F. Genomic organization and expression profile of the small GTPases of the RhoBTB family in human and mouse. Gene. 2002;298:147-57 pubmed..All three genes were also detected in fetal tissues, and in a number of cell lines RHOBTB3 predominates. RHOBTB genes are upregulated in some cancer cell lines, suggesting that these proteins might participate in tumorigenesis. ..
- Stuck B, Pani M, Besrour F, Segni M, Krause M, Usadel K, et al. Fas ligand gene polymorphisms are not associated with Hashimoto's thyroiditis and Graves' disease. Hum Immunol. 2003;64:285-9 pubmed..In conclusion, our data do not suggest common genetic FasL variants to significantly contribute to the pathogenesis of either Hashimoto's thyroiditis or Graves' disease. ..
- Berthold P, Schmitt R, Mages W. An engineered Streptomyces hygroscopicus aph 7" gene mediates dominant resistance against hygromycin B in Chlamydomonas reinhardtii. Protist. 2002;153:401-12 pubmed..This advocates the hygromycin-resistance plasmid, pHyg3, as a new versatile tool for the transformation of a broad range of C. reinhardtii strains without the sustained need for using auxotrophic mutants as recipients. ..
- Weisschuh N, Neumann D, Wolf C, Wissinger B, Gramer E. Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients. Mol Vis. 2005;11:284-7 pubmed..Mutation screening also identified two potentially pathogenic MYOC mutations (T293K and A445V). The findings in the current study provide further evidence that MYOC and OPTN gene variants are rare causes of NTG. ..
- Menssen A, Epanchintsev A, Lodygin D, Rezaei N, Jung P, Verdoodt B, et al. c-MYC delays prometaphase by direct transactivation of MAD2 and BubR1: identification of mechanisms underlying c-MYC-induced DNA damage and chromosomal instability. Cell Cycle. 2007;6:339-52 pubmed
- Neth P, Profanter B, Geissler C, Nägler D, Nerlich A, Sommerhoff C, et al. T-SP1: a novel serine protease-like protein predominantly expressed in testis. Biol Chem. 2008;389:1495-504 pubmed publisher..Notably, T-SP1 protein was also detectable in prostate cancer and in some ovarian cancer tissues, indicating tumor-related synthesis of T-SP1 beyond testis tissue. ..
- Fedler M, Luh K, Stelter K, Nieto Jacobo F, Basse C. The a2 mating-type locus genes lga2 and rga2 direct uniparental mitochondrial DNA (mtDNA) inheritance and constrain mtDNA recombination during sexual development of Ustilago maydis. Genetics. 2009;181:847-60 pubmed publisher..This study shows for the first time an interplay of mitochondrial proteins in regulating uniparental mtDNA inheritance...
- Wittkopp N, Huntzinger E, Weiler C, Sauliere J, Schmidt S, Sonawane M, et al. Nonsense-mediated mRNA decay effectors are essential for zebrafish embryonic development and survival. Mol Cell Biol. 2009;29:3517-28 pubmed publisher..Our results together with previous studies show that NMD effectors are essential for vertebrate embryogenesis and suggest that the coupling of splicing and NMD has been maintained in vertebrates but lost in fungi and invertebrates. ..
- Morawski M, Bruckner G, Arendt T, Matthews R. Aggrecan: Beyond cartilage and into the brain. Int J Biochem Cell Biol. 2012;44:690-3 pubmed publisher..In this review we focus on the structure, expression and function of aggrecan in the central nervous system. ..
- Hein H, Schluter C, Kulke R, Christophers E, Schroder J, Bartels J. Genomic organization, sequence analysis and transcriptional regulation of the human MCP-4 chemokine gene (SCYA13) in dermal fibroblasts: a comparison to other eosinophilic beta-chemokines. Biochem Biophys Res Commun. 1999;255:470-6 pubmed..Like MCP-3, MCP-4 mRNA expression in dermal fibroblasts is upregulated by TNF-alpha, IL-1alpha, IFN-gamma or IL-4 and differs from RANTES and eotaxin mRNA expression in its response to IFN-gamma and/or IL-4. ..