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... and osteopenia were revealed in the  homozygous 
Standardized, systemic phenotypic analysis of Slc12a1I299F mutant mice
Standardized, systemic phenotypic analysis of Slc12a1I299F mutant mice
Kemter, Elisabeth; Rathkolb, Birgit; Becker, Lore; Bolle, Ines; Busch, Dirk H; Dalke, Claudia; Elvert, Ralf; Favor, Jack; Graw, Jochen; Hans, Wolfgang; Ivandic, Boris; Kalaydjiev, Svetoslav; Klopstock, Thomas; Rácz, Ildikó; Rozman, Jan; Schrewe, Anja; Schulz, Holger; Zimmer, Andreas; Fuchs, Helmut; Gailus-Durner, Valérie; de Angelis, Martin Hrabé; Wolf, Eckhard; Aigner, Bernhard
mutant mice which were also described in ...
... desmin and in muscles of hetero- and  homozygous 
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue
Winter, Lilli; Wittig, Ilka; Peeva, Viktoriya; Eggers, Britta; Heidler, Juliana; Chevessier, Frederic; Kley, Rudolf A.; Barkovits, Katalin; Strecker, Valentina; Berwanger, Carolin; Herrmann, Harald; Marcus, Katrin; Kornblum, Cornelia; Kunz, Wolfram S.; Schröder, Rolf; Clemen, Christoph S.
knock-in mice carrying the R349P desmin ...
... carried the silent mutation in the  homozygous 
Common silent mutations in all types of hereditary complement C1q deficiencies
Common silent mutations in all types of hereditary complement C1q deficiencies
Petry, Franz; Loos, Michael
(18%) or heterozygous (36%) state. ...
... McDevitt 1989; Brodde 1991) in volunteers  homozygous 
β-Adrenoceptor polymorphisms
β-Adrenoceptor polymorphisms
Leineweber, K.; Büscher, R.; Bruck, H.; Brodde, O.-E.
for the Gly389 or Arg389 β1-adrenoceptors ...
... CMT patients to display the location of  homozygous 
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease
Fischer, Carina; Trajanoski, Slave; Papić, Lea; Windpassinger, Christian; Bernert, Günther; Freilinger, Michael; Schabhüttl, Maria; Arslan-Kirchner, Mine; Javaher-Haghighi, Poupak; Plecko, Barbara; Senderek, Jan; Rauscher, Christian; Löscher, Wolfgang N.; Pieber, Thomas R.; Janecke, Andreas R.; Auer-Grumbach, Michaela
regions and their extent of marker count ...
... sex reversal, who was, surprisingly,  homozygous 
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion
A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion
Pop, Ramona; Zaragoza, Michael V.; Gaudette, Mara; Dohrmann, Ulrike; Scherer, Gerd
for the nonsense mutation Y440X. ...
... of homozygotes. Results A scan for  homozygous 
Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle
Homozygous haplotype deficiency reveals deleterious mutations compromising reproductive and rearing success in cattle
Pausch, Hubert; Schwarzenbacher, Hermann; Burgstaller, Johann; Flisikowski, Krzysztof; Wurmser, Christine; Jansen, Sandra; Jung, Simone; Schnieke, Angelika; Wittek, Thomas; Fries, Ruedi
haplotype deficiency in 25,544 Fleckvieh ...
... nigra. In addition, we observed in the  homozygous 
Microphthalmia, parkinsonism, and enhanced nociception in Pitx3416insG mice
Microphthalmia, parkinsonism, and enhanced nociception in Pitx3416insG mice
Rosemann, Michael; Ivashkevich, Alesia; Favor, Jack; Dalke, Claudia; Hölter, Sabine M.; Becker, Lore; Rácz, Ildikó; Bolle, Ines; Klempt, Martina; Rathkolb, Birgit; Kalaydjiev, Svetoslav; Adler, Thure; Aguilar, Antonio; Hans, Wolfgang; Horsch, Marion; Rozman, Jan; Calzada-Wack, Julia; Kunder, Sandra; Naton, Beatrix; Gailus-Durner, Valerie; Fuchs, Helmut; Schulz, Holger; Beckers, Johannes; Busch, Dirk H.; Burbach, J. Peter H.; Smidt, Marten P.; Quintanilla-Martinez, Leticia; Esposito, Irene; Klopstock, Thomas; Klingenspor, Martin; Ollert, Markus; Wolf, Eckhard; Wurst, Wolfgang; Zimmer, Andreas; Hrabé de Angelis, Martin; Atkinson, Michael; Heinzmann, Ulrich; Graw, Jochen
eyeless mutants increased extramedullary ...
... ears and kidneys of Eya3 mutant mice.  Homozygous 
Pleiotropic effects in Eya3knockout mice
Pleiotropic effects in Eya3knockout mice
Söker, Torben; Dalke, Claudia; Puk, Oliver; Floss, Thomas; Becker, Lore; Bolle, Ines; Favor, Jack; Hans, Wolfgang; Hölter, Sabine M; Horsch, Marion; Kallnik, Magdalena; Kling, Eva; Moerth, Corinna; Schrewe, Anja; Stigloher, Christian; Topp, Stefanie; Gailus-Durner, Valerie; Naton, Beatrix; Beckers, Johannes; Fuchs, Helmut; Ivandic, Boris; Klopstock, Thomas; Schulz, Holger; Wolf, Eckhard; Wurst, Wolfgang; Bally-Cuif, Laure; de Angelis, Martin Hrabé; Graw, Jochen
mutants displayed decreased bone mineral ...
... been described before. We here report a  homozygous 
Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy
Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy
Geis, Tobias; Marquard, Klaus; Rödl, Tanja; Reihle, Christof; Schirmer, Sophie; Kalle, Thekla; Bornemann, Antje; Hehr, Ute; Blankenburg, Markus
novel DAG1 missense mutation c.2006G>T ...
... type foster mothers. Only about 17% of the  homozygous 
Replacement of connexin43 by connexin26 in transgenic mice leads to dysfunctional reproductive organs and slowed ventricular conduction in the heart
Replacement of connexin43 by connexin26 in transgenic mice leads to dysfunctional reproductive organs and slowed ventricular conduction in the heart
Winterhager, Elke; Pielensticker, Nicole; Freyer, Jennifer; Ghanem, Alexander; Schrickel, Jan W; Kim, Jung-Sun; Behr, Rüdiger; Grümmer, Ruth; Maass, Karen; Urschel, Stephanie; Lewalter, Thorsten; Tiemann, Klaus; Simoni, Manuela; Willecke, Klaus
connexin43 knock-in connexin26 mice ...
... −0.77% [−8.4 mmol/mol], p < 0.0001;  homozygous 
Influence of TCF7L2 gene variants on the therapeutic response to the dipeptidylpeptidase-4 inhibitor linagliptin
Influence of TCF7L2 gene variants on the therapeutic response to the dipeptidylpeptidase-4 inhibitor linagliptin
Zimdahl, Heike; Ittrich, Carina; Graefe-Mody, Ulrike; Boehm, Bernhard O.; Mark, Michael; Woerle, Hans-Juergen; Dugi, Klaus A.
risk variant carriers TT [n = 73]: −0.57% ...
... atherosclerosis. Methods Participants  Homozygous 
Monocytes of patients with familial hypercholesterolemia show alterations in cholesterol metabolism
Monocytes of patients with familial hypercholesterolemia show alterations in cholesterol metabolism
Mosig, Sandy; Rennert, Knut; Büttner, Petra; Krause, Siegfried; Lütjohann, Dieter; Soufi, Muhidien; Heller, Regine; Funke, Harald
and heterozygous FH patients with ...
... augmented contractile response in humans  homozygous 
The Arg389Gly β1-adrenoceptor gene polymorphism influences the acute effects of β-adrenoceptor blockade on contractility in the human heart
The Arg389Gly β1-adrenoceptor gene polymorphism influences the acute effects of β-adrenoceptor blockade on contractility in the human heart
Huntgeburth, Michael; La Rosée, Karl; ten Freyhaus, Henrik; Böhm, Michael; Schnabel, Petra; Hellmich, Martin; Rosenkranz, Stephan
for the Arg389 allele. ...
... 10.5/F/W t(8;21) (AML-M2) t(11;16) 0/18/  homozygous 
Polymorphisms in the MLL breakpoint cluster region (BCR)
Polymorphisms in the MLL breakpoint cluster region (BCR)
Echlin-Bell, Deborah R.; Smith, Lydia L.; Li, Loretta; Strissel, Pamela L.; Strick, Reiner; Gupta, Vandana; Banerjee, Jhula; Larson, Richard; Relling, Mary V.; Raimondi, Susan C.; Hayashi, Yasuhide; Taki, Tomohiko; Zeleznik-Le, Nancy; Rowley, Janet D.
-(GAA)5/5 UC-2 17/F/B Hodgkin's disease ...
... promoter was able to restore growth of  homozygous 
Requirement of proline synthesis during Arabidopsis reproductive development
Requirement of proline synthesis during Arabidopsis reproductive development
Funck, Dietmar; Winter, Gudrun; Baumgarten, Lukas; Forlani, Giuseppe
p5cr mutant embryos. ...
... compromise juvenile survival. A scan for  homozygous 
A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle
A missense mutation in TUBD1 is associated with high juvenile mortality in Braunvieh and Fleckvieh cattle
Schwarzenbacher, Hermann; Burgstaller, Johann; Seefried, Franz R.; Wurmser, Christine; Hilbe, Monika; Jung, Simone; Fuerst, Christian; Dinhopl, Nora; Weissenböck, Herbert; Fuerst-Waltl, Birgit; Dolezal, Marlies; Winkler, Reinhard; Grueter, Oskar; Bleul, Ulrich; Wittek, Thomas; Fries, Ruedi; Pausch, Hubert
haplotype deficiency revealed a short ...
... a heterozygous CAR1/car1 deletion or a  homozygous 
Contribution of the fermenting yeast strain to ethyl carbamate generation in stone fruit spirits
Contribution of the fermenting yeast strain to ethyl carbamate generation in stone fruit spirits
Schehl, Beatus; Senn, Thomas; Lachenmeier, Dirk W.; Rodicio, Rosaura; Heinisch, Jürgen J.
defect (car1/car1) were constructed. ...
... caused a sudden accumulation of  homozygous 
A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle
A frameshift mutation in GON4L is associated with proportionate dwarfism in Fleckvieh cattle
Schwarzenbacher, Hermann; Wurmser, Christine; Flisikowski, Krzysztof; Misurova, Lubica; Jung, Simone; Langenmayer, Martin C.; Schnieke, Angelika; Knubben-Schweizer, Gabriela; Fries, Ruedi; Pausch, Hubert
calves with dwarfism. ...
... in TIRAP/Mal and TLR4 and patients  homozygous 
Influence of genetic variations in TLR4 and TIRAP/Mal on the course of sepsis and pneumonia and cytokine release: an observational study in three cohorts
Influence of genetic variations in TLR4 and TIRAP/Mal on the course of sepsis and pneumonia and cytokine release: an observational study in three cohorts
Kumpf, Oliver; Giamarellos-Bourboulis, Evangelos J; Koch, Alexander; Hamann, Lutz; Mouktaroudi, Maria; Oh, Djin-Ye; Latz, Eicke; Lorenz, Eva; Schwartz, David A; Ferwerda, Bart; Routsi, Christina; Skalioti, Chryssanthi; Kullberg, Bart-Jan; van der Meer, Jos WM; Schlag, Peter M; Netea, Mihai G; Zacharowski, Kai; Schumann, Ralf R
for the TIRAP/Mal SNP had a significantly ...
... and two in ALS2. Thirteen mutations are  homozygous 
Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9–2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)
Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9–2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP)
Herzfeld, Thilo; Wolf, Nicole; Winter, Pia; Hackstein, Holger; Vater, Daniel; Müller, Ulrich
and have occurred in children of ...
... indicate novel alleles. HapMap SNPs  homozygous 
Comprehensive assessment of sequence variation within the copy number variable defensin cluster on 8p23 by target enriched in-depth 454 sequencing
Comprehensive assessment of sequence variation within the copy number variable defensin cluster on 8p23 by target enriched in-depth 454 sequencing
Taudien, Stefan; Szafranski, Karol; Felder, Marius; Groth, Marco; Huse, Klaus; Raffaelli, Francesca; Petzold, Andreas; Zhang, Xinmin; Rosenstiel, Philip; Hampe, Jochen; Schreiber, Stefan; Platzer, Matthias
for the variant allele of the CTRL and ...
... compared to wild-type mice. In contrast,  homozygous 
Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia
Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia
Diener, Susanne; Bayer, Sieglinde; Sabrautzki, Sibylle; Wieland, Thomas; Mentrup, Birgit; Przemeck, Gerhard K. H.; Rathkolb, Birgit; Graf, Elisabeth; Hans, Wolfgang; Fuchs, Helmut; Horsch, Marion; Schwarzmayr, Thomas; Wolf, Eckhard; Klopocki, Eva; Jakob, Franz; Strom, Tim M.; Angelis, Martin Hrabě; Lorenz-Depiereux, Bettina
Fam46a E157*Mhda mice showed severe ...
... sequencing (WES), determination of  homozygous 
The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation
The missing “link”: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation
Schreml, Julia; Durmaz, Burak; Cogulu, Ozgur; Keupp, Katharina; Beleggia, Filippo; Pohl, Esther; Milz, Esther; Coker, Mahmut; Ucar, Sema Kalkan; Nürnberg, Gudrun; Nürnberg, Peter; Kuhn, Joachim; Ozkinay, Ferda
stretches by WES variants, and classical ...
... mice were intercrossed, however, no viable  homozygous 
Assessing Behavioural Effects of Chronic HPA Axis Activation Using Conditional CRH-Overexpressing Mice
Assessing Behavioural Effects of Chronic HPA Axis Activation Using Conditional CRH-Overexpressing Mice
Dedic, Nina; Touma, Chadi; Romanowski, Cristoph P.; Schieven, Marcel; Kühne, Claudia; Ableitner, Martin; Lu, Ailing; Holsboer, Florian; Wurst, Wolfgang; Kimura, Mayumi; Deussing, Jan M.
R26 Crh/Crh were obtained. ...