Works matching DE "EXONS (Genetics)"

Results: 4688

Functional characterization of SLC7A9 polymorphisms assumed to influence the cystinuria phenotype.

Published in:

Clinical Nephrology, 2006, v. 65, n. 4, p. 262, doi. 10.5414/CNP65262

By:

Brauers, E.;
Schmidt, C.;
Zerres, K.;
Eggermann, T.

Publication type:

Article

Detection of c-kit exons 11- and 17-activating mutations in testicular seminomas by high-resolution melting amplicon analysis.

Published in:

Modern Pathology, 2006, v. 19, n. 9, p. 1164, doi. 10.1038/modpathol.3800623

By:

Willmore-Payne, Carlynn;
Holden, Joseph A .;
Chadwick., Barbara E.;
Layfield, Lester J.

Publication type:

Article

Expression and genomic status of EGFR and ErbB-2 in alveolar and embryonal rhabdomyosarcoma.

Published in:

Modern Pathology, 2006, v. 19, n. 9, p. 1213, doi. 10.1038/modpathol.3800636

By:

Ganti, Ramapriya;
Skapek, Stephen X.;
Zhang, Jie;
Fuller, Christine E.;
Wu, Jianrong;
Billups, Catherine A.;
Breitfeld, Philip P.;
Dalton, James D.;
Meyer, William H.;
Khoury, Joseph D.

Publication type:

Article

Frequentß-catenin overexpression without exon 3 mutation in cutaneous lymphomas.

Published in:

Modern Pathology, 2004, v. 17, n. 10, p. 1275, doi. 10.1038/modpathol.3800181

By:

Bellei, Barbara;
Pacchiarotti, Alberto;
Perez, Marie;
Faraggiana, Tullio

Publication type:

Article

Differential expression of KIT/PDGFRA mutant isoforms in epithelioid and mixed variants of gastrointestinal stromal tumors depends predominantly on the tumor site.

Published in:

Modern Pathology, 2004, v. 17, n. 8, p. 889, doi. 10.1038/modpathol.3800136

By:

Wasag, Bartosz;
Debiec-Rychter, Maria;
Pauwels, Patrick;
Stul, Michel;
Vranckx, Hilde;
Van Oosterom, Allan;
Hagemeijer, Anne;
Sciot, Raf

Publication type:

Article

c-kit Mutations in Gastrointestinal Stromal Tumors Occur Preferentially in the Spindle Rather Than in the Epithelioid Cell Variant.

Published in:

Modern Pathology, 2002, v. 15, n. 2, p. 125, doi. 10.1038/modpathol.3880504

By:

Wardelmann, Eva;
Neidt, Iris;
Bierhoff, Erhard;
Speidel, Nicola;
Manegold, Christoph;
Fischer, Hans-Peter;
Pfeifer, Ulrich;
Pietsch, Torsten

Publication type:

Article

ESRRA-C11orf20 Is a Recurrent Gene Fusion in Serous Ovarian Carcinoma.

Published in:

PLoS Biology, 2011, v. 9, n. 9, p. 1, doi. 10.1371/journal.pbio.1001156

By:

Salzman, Julia;
Marinelli, Robert J.;
Wang, Peter L.;
Green, Ann E.;
Nielsen, Julie S.;
Nelson, Brad H.;
Drescher, Charles W.;
Brown, Patrick O.

Publication type:

Article

iCLIP Predicts the Dual Splicing Effects of TIA-RNA Interactions.

Published in:

PLoS Biology, 2010, v. 8, n. 10, p. 1, doi. 10.1371/journal.pbio.1000530

By:

Zhen Wang;
Kayikci, Melis;
Briese, Michael;
Zarnack, Kathi;
Luscombe, Nicholas M.;
Rot, Gregor;
Zupan, Blaž;
Curk, Tomaž;
Ule, Jernej

Publication type:

Article

The Hierarchy of Exon-Junction Complex Assembly by the Spliceosome Explains Key Features of Mammalian Nonsense-Mediated mRNA Decay.

Published in:

PLoS Biology, 2009, v. 7, n. 5, p. 1, doi. 10.1371/journal.pbio.1000120

By:

Gehring, Niels H.;
Lamprinaki, Styliani;
Hentze, Matthias W.;
Kulozik, Andreas E.

Publication type:

Article

Where Do Introns Come From.

Published in:

2008

By:

Catania, Francesco;
Lynch, Michael

Publication type:

Essay

Enhancement of SMN2 Exon 7 Inclusion by Antisense Oligonucleotides Targeting the Exon.

Published in:

PLoS Biology, 2007, v. 5, n. 4, p. 0729, doi. 10.1371/journal.pbio.0050073

By:

Yimin Hua;
Vickers, Timothy A.;
Baker, Brenda F.;
Bennett, C. Frank;
Krainer, Adrian R.

Publication type:

Article

Splicing and the Evolution of Proteins in Mammals.

Published in:

PLoS Biology, 2007, v. 5, n. 2, p. 343, doi. 10.1371/journal.pbio.0050014

By:

Parmley, Joanna L.;
Urrutia, Araxi O.;
Potrzebowski, Lukasz;
Kaessmann, Henrik;
Hurst, Laurence D.

Publication type:

Article

Exon Silencing by UAGG Motifs in Response to Neuronal Excitation.

Published in:

PLoS Biology, 2007, v. 5, n. 2, p. 263, doi. 10.1371/journal.pbio.0050036

By:

Ping An;
Grabowski, Paula J.

Publication type:

Article

Depolarization and CaM Kinase IV Modulate NMDA Receptor Splicing through Two Essential RNA Elements.

Published in:

PLoS Biology, 2007, v. 5, n. 2, p. 281, doi. 10.1371/journal.pbio.0050040

By:

Ji-Ann Lee;
Yi Xing;
Nguyen, David;
Jiuyong Xie;
Lee, Christopher J.;
Black, Douglas L.

Publication type:

Article

Epigenetic Control of the foxp3 Locus in Regulatory T Cells.

Published in:

PLoS Biology, 2007, v. 5, n. 2, p. 169, doi. 10.1371/journal.pbio.0050038

By:

Floess, Stefan;
Freyer, Jennifer;
Siewert, Christiane;
Baron, Udo;
Olek, Sven;
Polansky, Julia;
Schlawe, Kerstin;
Hyun-Dong Chang;
Bopp, Tobias;
Schmitt, Edgar;
Klein-Hessling, Stefan;
Serfling, Edgar;
Hamann, Alf;
Jochen Huehn

Publication type:

Article

Sing the Genome Electric: Excited Cells Adjust Their Splicing.

Published in:

PLoS Biology, 2007, v. 5, n. 2, p. 141, doi. 10.1371/journal.pbio.0050055

By:

Ares Jr., Manuel

Publication type:

Article

SITEX 2.0: Projections of protein functional sites on eukaryotic genes. Extension with orthologous genes.

Published in:

Journal of Bioinformatics & Computational Biology, 2017, v. 15, n. 2, p. -1, doi. 10.1142/S021972001650044X

By:

Medvedeva, Irina V.;
Demenkov, Pavel S.;
Ivanisenko, Vladimir A.

Publication type:

Article

Histone modifications influence skipped exons inclusion.

Published in:

Journal of Bioinformatics & Computational Biology, 2017, v. 15, n. 1, p. -1, doi. 10.1142/S0219720017500032

By:

Hou, Yue;
Huang, Huan;
Hu, Wenqiao;
Liu, Hongde;
Sun, Xiao

Publication type:

Article

Representation of DNA sequences in genetic codon context with applications in exon and intron prediction.

Published in:

Journal of Bioinformatics & Computational Biology, 2015, v. 13, n. 2, p. -1, doi. 10.1142/S0219720015500043

By:

Yin, Changchuan

Publication type:

Article

FUNCTIONAL UNDERSTANDING OF THE DIVERSE EXON-INTRON STRUCTURES OF HUMAN GPCR GENES.

Published in:

Journal of Bioinformatics & Computational Biology, 2014, v. 12, n. 1, p. -1, doi. 10.1142/S0219720013500194

By:

HAMMOND, DOROTHY A.;
OLMAN, VICTOR;
XU, YING

Publication type:

Article

IDENTIFICATION OF SHORTENED 3′ UNTRANSLATED REGIONS FROM EXPRESSION ARRAYS.

Published in:

Journal of Bioinformatics & Computational Biology, 2012, v. 10, n. 2, p. 1241001-1, doi. 10.1142/S0219720012410016

By:

MARTIGNETTI, LOREDANA;
ZINOVYEV, ANDREI;
BARILLOT, EMMANUEL

Publication type:

Article

LEX-SVM:: EXPLORING THE POTENTIAL OF EXON EXPRESSION PROFILING FOR DISEASE CLASSIFICATION.

Published in:

Journal of Bioinformatics & Computational Biology, 2011, v. 9, n. 2, p. 299, doi. 10.1142/S0219720011005513

By:

YUAN, XIONGYING;
ZHAO, YI;
LIU, CHANGNING;
BU, DONGBO

Publication type:

Article

GLOBAL METAL-ION BINDING PROTEIN FINGERPRINT:: A METHOD TO IDENTIFY MOTIF-LESS METAL-ION BINDING PROTEINS.

Published in:

Journal of Bioinformatics & Computational Biology, 2010, v. 8, n. 4, p. 717, doi. 10.1142/S0219720010004884

By:

MOHAN, ABHILASH;
ANISHETTY, SHARMILA;
GAUTAM, PENNATHUR

Publication type:

Article

FINDING ALTERNATIVE SPLICING PATTERNS WITH STRONG SUPPORT FROM EXPRESSED SEQUENCES ON INDIVIDUAL EXONS/INTRONS.

Published in:

Journal of Bioinformatics & Computational Biology, 2008, v. 6, n. 5, p. 1021, doi. 10.1142/S0219720008003825

By:

WONG, THOMAS K. F.;
LAM, TAK-WAH;
YANG, WANLING;
YIU, S. M.

Publication type:

Article

OPTIMAL SPACED SEEDS FOR HOMOLOGOUS CODING REGIONS.

Published in:

Journal of Bioinformatics & Computational Biology, 2004, v. 1, n. 4, p. 595

By:

Brejová, Broňa;
Brown, Daniel G.;
Vinař, Tomáš

Publication type:

Article

An Interactive Tool for Extracting Exons and SNP from Genomic Sequence:: Isolation of HCN1 and HCN3 Ion Channel Genes.

Published in:

Journal of Bioinformatics & Computational Biology, 2003, v. 1, n. 3, p. 433, doi. 10.1142/S0219720003000277

By:

Yuan Liu;
Yuhong Wang;
Folander, Kimberly;
Guochun Xie;
Blevins, Richard

Publication type:

Article

EXPLORING ALTERNATIVE TRANSCRIPT STRUCTURE IN THE HUMAN GENOME USING BLOCKS AND INTERPRO.

Published in:

Journal of Bioinformatics & Computational Biology, 2003, v. 1, n. 2, p. 289, doi. 10.1142/S0219720003000113

By:

Loraine, Ann E.;
Helt, Gregg A.;
Cline, Melissa S.;
Siani-Rose, Michael A.

Publication type:

Article

The rice thermo-sensitive genic male sterility gene tms9: pollen abortion and gene isolation.

Published in:

Euphytica, 2015, v. 203, n. 1, p. 145, doi. 10.1007/s10681-014-1285-z

By:

Sheng, Zhonghua;
Tang, Liqun;
Shao, Gaoneng;
Xie, Lihong;
Jiao, Guiai;
Tang, Shaoqing;
Hu, Peisong

Publication type:

Article

RGA-ILP, a new type of functional molecular markers in bread wheat.

Published in:

Euphytica, 2010, v. 172, n. 2, p. 263, doi. 10.1007/s10681-009-0063-9

By:

World Shang;
Ronghua Zhou;
Jizeng Jia;
Lifeng Gao

Publication type:

Article

An efficient and rapid method for cDNA cloning from difficult templates using codon optimization and SOE-PCR: with human RANK and TIMP2 gene as examples.

Published in:

Biotechnology Letters, 2011, v. 33, n. 10, p. 1939, doi. 10.1007/s10529-011-0656-y

By:

Huang, Gang;
Wen, Qianjun;
Gao, Qiangguo;
Zhang, Fang;
Bai, Yun

Publication type:

Article

Isolation of a novel C18-Δ9 polyunsaturated fatty acid specific elongase gene from DHA-producing Isochrysis galbana H29 and its use for the reconstitution of the alternative Δ8 pathway in Saccharomyces cerevisiae.

Published in:

Biotechnology Letters, 2011, v. 33, n. 9, p. 1823, doi. 10.1007/s10529-011-0626-4

By:

Ming Li;
Xiuyuan Ou;
Xiangdong Yang;
Dongquan Guo;
Xueyan Qian;
Laijun Xing;
Mingchun Li

Publication type:

Article

Generation of mice with a novel conditional null allele of the Sox9 gene.

Published in:

Biotechnology Letters, 2011, v. 33, n. 8, p. 1551, doi. 10.1007/s10529-011-0608-6

By:

Yap, Sook;
Xing, Xing;
Kraus, Petra;
Sivakamasundari, V.;
Chan, Hsiao;
Lufkin, Thomas

Publication type:

Article

Genome-wide survey of alternative splicing in the grass Brachypodium distachyon: a emerging model biosystem for plant functional genomics.

Published in:

Biotechnology Letters, 2011, v. 33, n. 3, p. 629, doi. 10.1007/s10529-010-0475-6

By:

Sablok, Gaurav;
Gupta, P. K.;
Baek, Jong-Min;
Vazquez, Franck;
Xiang Jia Min

Publication type:

Article

Insertion of a heterologous gene construct into a non-functional ORF of the Streptococcus thermophilus chromosome.

Published in:

Biotechnology Letters, 2009, v. 31, n. 5, p. 759, doi. 10.1007/s10529-009-9931-6

By:

Renye Jr., John A.;
Somkuti, George A.

Publication type:

Article

Mutational analysis of the TRE2 oncogene encoding an inactive RabGAP.

Published in:

Biotechnology Letters, 2007, v. 29, n. 12, p. 1927, doi. 10.1007/s10529-007-9475-6

By:

Bizimungu, Christelle;
Thomas, Annick;
Brasseur, Robert;
Vandenbol, Micheline

Publication type:

Article

High-level Expression of a Synthetic Gene Encoding a Sweet Protein, Monellin, in Escherichia coli.

Published in:

Biotechnology Letters, 2005, v. 27, n. 22, p. 1745, doi. 10.1007/s10529-005-3544-5

By:

Zhongjun Chen;
Heng Cai;
Fuping Lu;
Du, Lianxiang

Publication type:

Article

Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32.

Published in:

Heart & Vessels, 2016, v. 31, n. 10, p. 1717, doi. 10.1007/s00380-016-0793-2

By:

Maeda, Jun;
Kosaki, Kenjiro;
Shiono, Junko;
Kouno, Kazuki;
Aeba, Ryo;
Yamagishi, Hiroyuki

Publication type:

Article

Polymorphisms at exon 4 of p53 and the susceptibility to herpesvirus types 6 and 1 infection in renal transplant recipients.

Published in:

Transplant International, 2006, v. 19, n. 9, p. 732, doi. 10.1111/j.1432-2277.2006.00346.x

By:

Leite, Janaína L.;
Manfrinatto, Juliana A.;
Mazzali, Marilda;
Ward, Laura S.

Publication type:

Article

Hirschsprung's disease and medullary thyroid carcinoma.

Published in:

2012

By:

Wiwanitkit, Viroj

Publication type:

Letter

Abstracts (pages 36-40).

Published in:: 2004
Publication type:: Abstract

Identification of four novel mutations of the WFS1 gene in Iranian Wolfram syndrome pedigrees.

Published in:

Acta Diabetologica, 2016, v. 53, n. 6, p. 899, doi. 10.1007/s00592-016-0884-7

By:

Ghahraman, Martha;
Abbaszadegan, Mohammad;
Vakili, Rahim;
Hosseini, Sousan;
Fardi Golyan, Fatemeh;
Ghaemi, Nosrat;
Forghanifard, Mohammad

Publication type:

Article

The coexistence of type 1 diabetes, MODY2 and metabolic syndrome in a young girl.

Published in:

2012

By:

Calcaterra, Valeria;
Martinetti, Miryam;
Salina, Alessandro;
Aloi, Concetta;
Larizza, Daniela

Publication type:

Report

Description of an AGPAT2 pathologic allelic variant in a 54-year-old Caucasian woman with Berardinelli-Seip syndrome.

Published in:

2011

By:

Pelosini, Caterina;
Martinelli, Silvia;
Bagattini, Brunella;
Pucci, Enrico;
Fierabracci, Paola;
Scartabelli, Giovanna;
Salvetti, Guido;
Vitti, Paolo;
Maffei, Margherita;
Pinchera, Aldo;
Santini, Ferruccio

Publication type:

Report

Hypomorphic phenotype of Foxn1 gene-modified rats by CRISPR/Cas9 system.

Published in:

Transgenic Research, 2016, v. 25, n. 4, p. 533, doi. 10.1007/s11248-016-9941-9

By:

Goto, Teppei;
Hara, Hiromasa;
Nakauchi, Hiromitsu;
Hochi, Shinichi;
Hirabayashi, Masumi

Publication type:

Article

BCSG1 Methylation Status and BCSG1 Expression in Breast Tissues Derived from Chinese Women with Breast Cancer.

Published in:

Oncology, 2008, v. 74, n. 1/2, p. 61, doi. 10.1159/000139125

By:

Yu-Mei Gu;
Tan, Jian-Xin;
Xiao-Wei Lu;
Yun Ding;
Xiao Han;
Yu-Jie Sun

Publication type:

Article

B-raf Exon 15 Mutations Are Common in Primary Melanoma Resection Specimens but Not Associated with Clinical Outcome.

Published in:

Oncology, 2004, v. 66, n. 5, p. 411, doi. 10.1159/000079490

By:

Deichmann, Martin;
Thome, Marianne;
Benner, Axel;
Näher, Helmut

Publication type:

Article

Aromatase and Intracrinology of Estrogen in Hormone-Dependent Tumors.

Published in:

Oncology, 1999, v. 57, p. 7, doi. 10.1159/000055270

By:

Harada, Nobuhiro

Publication type:

Article

Estrogen Dependency in Uterine Endometrial Cancers.

Published in:

Oncology, 1998, v. 55, p. 53, doi. 10.1159/000055259

By:

Fujimoto, Jiro;
Hirose, Reiko;
Sakaguchi, Hideki;
Tamaya, Teruhiko

Publication type:

Article

Disruption of the nuclear hormone receptor RORalpha in staggerer mice.

Published in:

Nature, 1996, v. 379, n. 6567, p. 736, doi. 10.1038/379736a0

By:

Hamilton, Bruce A.;
Frankel, Wayne N.

Publication type:

Article

The uncertain origins of introns.

Published in:

Nature, 1994, v. 371, n. 6496, p. 381, doi. 10.1038/371381a0

By:

Hurst, Laurence D.

Publication type:

Article