Works matching DE "NULL mutation"

Results: 58

Alzheimer neuropathology without frontotemporal lobar degeneration hallmarks ( TAR DNA-binding protein 43 inclusions) in missense progranulin mutation Cys139 Arg.

Published in:

Brain Pathology, 2018, v. 28, n. 1, p. 72, doi. 10.1111/bpa.12480

By:

Redaelli, Veronica;
Rossi, Giacomina;
Maderna, Emanuela;
Kovacs, Gabor G.;
Piccoli, Elena;
Caroppo, Paola;
Cacciatore, Francesca;
Spinello, Sonia;
Grisoli, Marina;
Sozzi, Giuliano;
Salmaggi, Andrea;
Tagliavini, Fabrizio;
Giaccone, Giorgio

Publication type:

Article

Functional Characteristics of Bread Wheat (Triticum aestivum L.) Near-Isogenic Lines Differing at the Waxy (Wx) Locus.

Published in:

Cereal Chemistry, 2016, v. 93, n. 1, p. 77, doi. 10.1094/CCHEM-04-15-0085-R

By:

Ramachandran, Adithya;
Hucl, Pierre;
Briggs, Connie

Publication type:

Article

Mesectoderm is a major target of retinoic acid action.

Published in:

European Journal of Oral Sciences, 1998, v. 106, p. 24, doi. 10.1111/j.1600-0722.1998.tb02149.x

By:

Mark, Manuel;
Ghyselinck, Norbert B.;
Kastner, Philippe;
Dupé, Valérie;
Wendling, Olivia;
Krezel, Wojciech;
Mascrez, Bénédicte;
Chambon, Pierre

Publication type:

Article

Kharon1 Null Mutants of Leishmania mexicana Are Avirulent in Mice and Exhibit a Cytokinesis Defect within Macrophages.

Published in:

PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0134432

By:

Tran, Khoa D.;
Vieira, Danielle P.;
Sanchez, Marco A.;
Valli, Jessica;
Gluenz, Eva;
Landfear, Scott M.

Publication type:

Article

The Inner Membrane Protein PilG Interacts with DNA and the Secretin PilQ in Transformation.

Published in:

PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0134954

By:

Frye, Stephan A.;
Lång, Emma;
Beyene, Getachew Tesfaye;
Balasingham, Seetha V.;
Homberset, Håvard;
Rowe, Alexander D.;
Ambur, Ole Herman;
Tønjum, Tone

Publication type:

Article

Oxidative Stress in Caenorhabditis elegans: Protective Effects of Spartin.

Published in:

PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0130455

By:

Truong, Timothy;
Karlinski, Zachary A.;
O’Hara, Christopher;
Cabe, Maleen;
Kim, Hongkyun;
Bakowska, Joanna C.

Publication type:

Article

Disruption of Escherichia coli Nissle 1917 K5 Capsule Biosynthesis, through Loss of Distinct kfi genes, Modulates Interaction with Intestinal Epithelial Cells and Impact on Cell Health.

Published in:

PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0120430

By:

Nzakizwanayo, Jonathan;
Kumar, Sandeep;
Ogilvie, Lesley A.;
Patel, Bhavik A.;
Dedi, Cinzia;
Macfarlane, Wendy M.;
Jones, Brian V.

Publication type:

Article

Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in <i>C. elegans</i>.

Published in:

PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0083450

By:

Therrien, Martine;
Rouleau, Guy A.;
Dion, Patrick A.;
Parker, J. Alex

Publication type:

Article

Fluorescent In Situ Hybridization: A New Tool for the Direct Identification and Detection of F. psychrophilum.

Published in:

PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0049280

By:

Strepparava, Nicole;
Wahli, Thomas;
Segner, Helmut;
Polli, Bruno;
Petrini, Orlando

Publication type:

Article

GABAergic Neuron Deficit As An Idiopathic Generalized Epilepsy Mechanism: The Role Of BRD2 Haploinsufficiency In Juvenile Myoclonic Epilepsy.

Published in:

PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023656

By:

Velíšek, Libor;
Enyuan Shang;
Velíškova, Jana;
Chachua, Tamar;
Macchiarulo, Stephania;
Maglakelidze, Giorgi;
Wolgemuth, Debra J.;
Greenberg, David A.

Publication type:

Article

Varenicline Blocks β2-nAChR–Mediated Response and Activates β4-nAChR–Mediated Responses in Mice In Vivo.

Published in:

Nicotine & Tobacco Research, 2012, v. 14, n. 6, p. 711, doi. 10.1093/ntr/ntr284

By:

Ortiz, Nick C.;
O’Neill, Heidi C.;
Marks, Michael J.;
Grady, Sharon R.

Publication type:

Article

Cis-2-dodecenoic acid quorum sensing system modulates N-acyl homoserine lactone production through RpfR and cyclic di-GMP turnover in Burkholderia cenocepacia.

Published in:

BMC Microbiology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2180-13-148

By:

Yinyue Deng;
Amy Lim;
Jing Wang;
Tielin Zhou;
Shaohua Chen;
Jasmine Lee;
Yi-Hu Dong;
Lian-Hui Zhang

Publication type:

Article

Contribution of PsbS Function and Stomatal Conductance to Foliar Temperature in Higher Plants.

Published in:

Plant & Cell Physiology, 2016, v. 57, n. 7, p. 1495, doi. 10.1093/pcp/pcw083

By:

Kulasek, Milena;
Bernacki, Maciej Jerzy;
Ciszak, Kamil;
Witon, Damian;
Karpiński, Stanislaw

Publication type:

Article

Genome Editing in Trees: From Multiple Repair Pathways to Long-Term Stability.

Published in:

Frontiers in Plant Science, 2018, p. N.PAG, doi. 10.3389/fpls.2018.01732

By:

Bewg, William Patrick;
Ci, Dong;
Tsai, Chung-Jui

Publication type:

Article

Late-onset Non-HLH presentations of Growth arrest, Inflammatory arachnoiditis, and severe Infectious Mononucleosis, in siblings with Hypomorphic Defects in UNC13D.

Published in:

Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.00944

By:

Gray, Paul Edgar;
Shadur, Bella;
Russell, Susan;
Mitchell, Richard;
Buckley, Michael;
Gallagher, Kerri;
Andrews, Ian;
Thia, Kevin;
Trapani, Joseph A.;
Kirk, Edwin Philip;
Voskoboinik, Ilia

Publication type:

Article

The experience of women living with Congenital Adrenal Hyperplasia: impact of the condition and the care given.

Published in:

Clinical Endocrinology, 2016, v. 85, n. 1, p. 21, doi. 10.1111/cen.13054

By:

Engberg, Hedvig;
Möller, Anders;
Hagenfeldt, Kerstin;
Nordenskjöld, Agneta;
Frisén, Louise

Publication type:

Article

Probing druggability and biological function of essential proteins in L eishmania combining facilitated null mutant and plasmid shuffle analyses.

Published in:

Molecular Microbiology, 2014, v. 93, n. 1, p. 146, doi. 10.1111/mmi.12648

By:

Dacher, Mariko;
Morales, Miguel A.;
Pescher, Pascale;
Leclercq, Olivier;
Rachidi, Najma;
Prina, Eric;
Cayla, Mathieu;
Descoteaux, Albert;
Späth, Gerald F.

Publication type:

Article

Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.

Published in:

Clinical Genetics, 2012, v. 82, n. 2, p. 147, doi. 10.1111/j.1399-0004.2011.01734.x

By:

Akawi, NA;
Al-Gazali, L;
Ali, BR

Publication type:

Article

Phenotypic Characterization of a Leishmania donovani Cyclophilin 40 Null Mutant.

Published in:

Journal of Eukaryotic Microbiology, 2016, v. 63, n. 6, p. 823, doi. 10.1111/jeu.12329

By:

Yau, Wai‐Lok;
Lambertz, Ulrike;
Colineau, Lucie;
Pescher, Pascale;
MacDonald, Andrea;
Zander, Dorothea;
Retzlaff, Silke;
Eick, Julia;
Reiner, Neil E.;
Clos, Joachim;
Späth, Gerald F.

Publication type:

Article

A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder.

Published in:

2017

By:

Shamseldin, Hanan E.;
Alasmari, Ali;
Salih, Mohammed A.;
Samman, Manar M.;
Mian, Shahid A.;
Alshidi, Tarfa;
Ibrahim, Niema;
Hashem, Mais;
Faqeih, Eissa;
Al-Mohanna, Futwan;
Alkuraay, Fowzan S.;
Alkuraya, Fowzan S

Publication type:

journal article

The Long 3'UTR mRNA of CaMKII Is Essential for Translation-Dependent Plasticity of Spontaneous Release in Drosophila melanogaster.

Published in:

Journal of Neuroscience, 2017, v. 37, n. 44, p. 10554, doi. 10.1523/JNEUROSCI.1313-17.2017

By:

Kuklin, Elena A.;
Alkins, Stephen;
Bakthavachalu, Baskar;
Genco, Maria C.;
Sudhakaran, Indulekha;
Raghavan, K. Vijay;
Ramaswami, Mani;
Griffith, Leslie C.

Publication type:

Article

Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in Adolescent Shank3 Null Mutant Mice.

Published in:

Journal of Neuroscience, 2012, v. 32, n. 19, p. 6525, doi. 10.1523/JNEUROSCI.6107-11.2012

By:

Mu Yang;
Bozdagi, Ozlem;
Scattoni, Maria Luisa;
Wöhr, Markus;
Roullet, Florence I.;
Katz, Adam M.;
Abrams, Danielle N.;
Kalikhman, David;
Simon, Harrison;
Woldeyohannes, Leuk;
Zhang, James Y.;
Harris, Mark J.;
Saxena, Roheeni;
Silverman, Jill L.;
Buxbaum, Joseph D.;
Crawley, Jacqueline N.

Publication type:

Article

Role of herpes simplex virus 1 Us3 in viral neuroinvasiveness.

Published in:

Microbiology & Immunology, 2014, v. 58, n. 1, p. 31, doi. 10.1111/1348-0421.12108

By:

Koyanagi, Naoto;
Imai, Takahiko;
Arii, Jun;
Kato, Akihisa;
Kawaguchi, Yasushi

Publication type:

Article

Low frequency of filaggrin null mutations in Croatia and their relation with allergic diseases.

Published in:

International Journal of Immunogenetics, 2013, v. 40, n. 3, p. 192, doi. 10.1111/iji.12006

By:

Sabolić Pipinić, I.;
Varnai, V. M.;
Turk, R.;
Breljak, D.;
Kezić, S.;
Macan, J.

Publication type:

Article

Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.

Published in:

PLoS Genetics, 2016, v. 12, n. 7, p. 1, doi. 10.1371/journal.pgen.1006156

By:

Cabral, Wayne A.;
Ishikawa, Masaki;
Garten, Matthias;
Makareeva, Elena N.;
Sargent, Brandi M.;
Weis, MaryAnn;
Barnes, Aileen M.;
Webb, Emma A.;
Shaw, Nicholas J.;
Ala-Kokko, Leena;
Lacbawan, Felicitas L.;
Högler, Wolfgang;
Leikin, Sergey;
Blank, Paul S.;
Zimmerberg, Joshua;
Eyre, David R.;
Yamada, Yoshihiko;
Marini, Joan C.

Publication type:

Article

Null mutations of NT-3 and Bax affect trigeminal ganglion cell number but not brainstem barrelette pattern formation.

Published in:

Somatosensory & Motor Research, 2013, v. 30, n. 3, p. 114, doi. 10.3109/08990220.2013.775118

By:

Mosconi, Tony;
Arends, J. J.;
Jacquin, Mark F.

Publication type:

Article

Foxc1 Gene Null Mutation Causes Ectopic Budding and Kidney Hypoplasia but Not Dysplasia.

Published in:

Cells Tissues Organs, 2013, v. 198, n. 1, p. 22, doi. 10.1159/000351291

By:

Komaki, Fumiyo;
Miyazaki, Yoichi;
Niimura, Fumio;
Matsusaka, Taiji;
Ichikawa, Iekuni;
Motojima, Masaru

Publication type:

Article

Axonopathy in the Central Nervous System Is the Hallmark of Mice with a Novel Intragenic Null Mutation of Dystonin.

Published in:

Genetics, 2016, v. 204, n. 1, p. 191, doi. 10.1534/genetics.116.186932

By:

Seehusen, Frauke;
Kiel, Kirsten;
Jottini, Stefano;
Wohlsein, Peter;
Habierski, Andre;
Seibel, Katharina;
Vogel, Tanja;
Urlaub, Henning;
Kollmar, Martin;
Baumgärtner, Wolfgang;
Teichmann, Ulrike

Publication type:

Article

Estimating Relatedness in the Presence of Null Alleles.

Published in:

Genetics, 2016, v. 202, n. 1, p. 247, doi. 10.1534/genetics.114.163956

By:

Kang Huang;
Ritland, Kermit;
Dunn, Derek W.;
Xiaoguang Qi;
Songtao Guo;
Baoguo Li

Publication type:

Article

Peri-implantation lethality in mice carrying megabase-scale deletion on 5qc3.3 is caused by Exoc1 null mutation.

Published in:

Scientific Reports, 2015, p. 13632, doi. 10.1038/srep13632

By:

Mizuno, Seiya;
Takami, Kohei;
Daitoku, Yoko;
Tanimoto, Yoko;
Dinh, Tra Thi Huong;
Mizuno-Iijima, Saori;
Hasegawa, Yoshikazu;
Takahashi, Satoru;
Sugiyama, Fumihiro;
Yagami, Ken-ichi

Publication type:

Article

Ribonuclease II preserves chloroplast RNA homeostasis by increasing mRNA decay rates, and cooperates with polynucleotide phosphorylase in 3' end maturation.

Published in:

Plant Journal, 2012, v. 72, n. 6, p. 960, doi. 10.1111/tpj.12006

By:

Germain, Arnaud;
Kim, Sang Hu;
Gutierrez, Ryan;
Stern, David B.

Publication type:

Article

Compensatory changes in CYP expression in three different toxicology mouse models: CAR-null, Cyp3a-null, and Cyp2b9/10/13-null mice.

Published in:

PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0174355

By:

Kumar, Ramiya;
Mota, Linda C.;
Litoff, Elizabeth J.;
Rooney, John P.;
Boswell, W. Tyler;
Courter, Elliott;
Henderson, Charles M.;
Hernandez, Juan P.;
Corton, J. Christopher;
Moore, David D.;
Baldwin, William S.

Publication type:

Article

The Yeast Eukaryotic Translation Initiation Factor 2B Translation Initiation Complex Interacts with the Fatty Acid Synthesis Enzyme YBR159W and Endoplasmic Reticulum Membranes.

Published in:

Molecular & Cellular Biology, 2013, v. 33, n. 5, p. 1041, doi. 10.1128/MCB.00811-12

By:

Browne, Christopher M.;
Samir, Parimal;
Fites, J. Scott;
Villarreal, Seth A.;
Link, Andrew J.

Publication type:

Article

Dyssegmental dysplasia, Silverman-Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy.

Published in:

2018

By:

Basalom, Shuaa;
Trakadis, Yannis;
Shear, Roberta;
Azouz, Michel E.;
De Bie, Isabelle

Publication type:

Case Study

Reverse genetics reveals single gene of every candidate on Hybrid sterility, X Chromosome QTL 2 (Hstx2) are dispensable for spermatogenesis.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65986-y

By:

Morimoto, Kento;
Numata, Koki;
Daitoku, Yoko;
Hamada, Yuko;
Kobayashi, Keiko;
Kato, Kanako;
Suzuki, Hayate;
Ayabe, Shinya;
Yoshiki, Atsushi;
Takahashi, Satoru;
Murata, Kazuya;
Mizuno, Seiya;
Sugiyama, Fumihiro

Publication type:

Article

The Expendables: Natural selection driving reduced gene function (Comment on DOI.

Published in:

BioEssays, 2015, v. 37, n. 11, p. 1153, doi. 10.1002/bies.201500147

By:

Bernstein, Max R.;
Rockman, Matthew V.

Publication type:

Article

Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 286, doi. 10.1038/ejhg.2012.169

By:

Lanthaler, Barbara;
Steichen-Gersdorf, Elisabeth;
Kollerits, Barbara;
Zschocke, Johannes;
Witsch-Baumgartner, Martina

Publication type:

Article

SAM68 is a physiological regulator of SMN2 splicing in spinal muscular atrophy.

Published in:

Journal of Cell Biology, 2015, v. 211, n. 1, p. 77, doi. 10.1083/jcb.201502059

By:

Pagliarini, Vittoria;
Pelosi, Laura;
Blaire Bustamante, Maria;
Nobili, Annalisa;
Berardinelli, Maria Grazia;
D'Amelio, Marcello;
Musarò, Antonio;
Sette, Claudio

Publication type:

Article

Surgical Intervention to Rescue Hirschsprung Disease in a Rat Model.

Published in:

Journal of Neurogastroenterology & Motility, 2015, v. 21, n. 4, p. 552, doi. 10.5056/jnm15079

By:

Stamp, Lincon A.;
Obermayr, Florian;
Pontell, Louise;
Young, Heather M.;
Dan Xie;
Croaker, David H.;
Zan-Min Song;
Furness, John B.

Publication type:

Article

EphA/ephrin-A signaling is critically involved in region-specific apoptosis during early brain development.

Published in:

Cell Death & Differentiation, 2013, v. 20, n. 1, p. 169, doi. 10.1038/cdd.2012.121

By:

Park, E;
Kim, Y;
Noh, H;
Lee, H;
Yoo, S;
Park, S

Publication type:

Article

Functional Rescue of Trafficking-Impaired ABCB4 Mutants by Chemical Chaperones.

Published in:

PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0150098

By:

Gordo-Gilart, Raquel;
Andueza, Sara;
Hierro, Loreto;
Jara, Paloma;
Alvarez, Luis

Publication type:

Article

Metabolic and Phenotypic Differences between Mice Producing a Werner Syndrome Helicase Mutant Protein and Wrn Null Mice.

Published in:

PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0140292

By:

Aumailley, Lucie;
Garand, Chantal;
Dubois, Marie Julie;
Johnson, F. Brad;
Marette, André;
Lebel, Michel

Publication type:

Article

Null boundary terms for Lanczos-Lovelock gravity.

Published in:

General Relativity & Gravitation, 2019, v. 51, n. 2, p. 1, doi. 10.1007/s10714-019-2502-9

By:

Chakraborty, Sumanta;
Parattu, Krishnamohan

Publication type:

Article

Sex Differences in Ethanol's Anxiolytic Effect and Chronic Ethanol Withdrawal Severity in Mice with a Null Mutation of the 5α-Reductase Type 1 Gene.

Published in:

Behavior Genetics, 2015, v. 45, n. 3, p. 354, doi. 10.1007/s10519-014-9691-5

By:

Tanchuck-Nipper, Michelle;
Ford, Matthew;
Hertzberg, Anna;
Beadles-Bohling, Amy;
Cozzoli, Debra;
Finn, Deborah

Publication type:

Article

Null Mutation of 5α-Reductase Type I Gene Alters Ethanol Consumption Patterns in a Sex-Dependent Manner.

Published in:

Behavior Genetics, 2015, v. 45, n. 3, p. 341, doi. 10.1007/s10519-014-9694-2

By:

Ford, Matthew;
Nickel, Jeffrey;
Kaufman, Moriah;
Finn, Deborah

Publication type:

Article

Dislocated Tongue Muscle Attachment and Cleft Palate Formation.

Published in:

2016

By:

Kouskoura, T.;
El Fersioui, Y.;
Angelini, M.;
Graf, D.;
Katsaros, C.;
Chiquet, M.

Publication type:

journal article

Genome-wide Association Studies of Pit-and-Fissure- and Smooth-surface Caries in Permanent Dentition.

Published in:

Journal of Dental Research, 2013, v. 92, n. 5, p. 432, doi. 10.1177/0022034513481976

By:

Zeng, Z.;
Shaffer, J.R.;
Wang, X.;
Feingold, E.;
Weeks, D.E.;
Lee, M.;
Cuenco, K.T.;
Wendell, S.K.;
Weyant, R.J.;
Crout, R.;
McNeil, D.W.;
Marazita, M.L.

Publication type:

Article

Induction of Nickel Accumulation in Response to Zinc Deficiency in Arabidopsis thaliana.

Published in:

International Journal of Molecular Sciences, 2015, v. 16, n. 5, p. 9420, doi. 10.3390/ijms16059420

By:

Sho Nishida;
Aki Kato;
Chisato Tsuzuki;
Junko Yoshida;
Takafumi Mizuno

Publication type:

Article

Loss of Vps54 Function Leads to Vesicle Traffic Impairment, Protein Mis-Sorting and Embryonic Lethality.

Published in:

International Journal of Molecular Sciences, 2013, v. 14, n. 6, p. 10908, doi. 10.3390/ijms140610908

By:

Karlsson, Páll;
Droce, Aida;
Moser, Jakob M.;
Cuhlmann, Simon;
Padilla, Carolina Ortiz;
Heimann, Peter;
Bartsch, Jörg W.;
Füchtbauer, Annette;
Füchtbauer, Ernst-Martin;
Schmitt-John, Thomas

Publication type:

Article

Salvage of the thiamin pyrimidine moiety by plant TenA proteins lacking an active-site cysteine.

Published in:

Biochemical Journal, 2014, v. 463, n. 1, p. 145, doi. 10.1042/BJ20140522

By:

ZALLOT, Rémi;
YAZDANI, Mohammad;
GOYER, Aymeric;
ZIEMAK, Michael J.;
GUAN, Jiahn-Chou;
MCCARTY, Donald R.;
DE CRÉCY-LAGARD, Valeéie;
GERDES, Svetlana;
GARRETTH, Timothy J.;
BENACH, Jordi;
HUNT, John F.;
SHINTANI, David K.;
HANSON, Andrew D.

Publication type:

Article