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... from TLR2 and TLR4. These individuals are  homozygous 
ESID 2014 ORAL PRESENTATIONS
ESID 2014 ORAL PRESENTATIONS
for a loss-of-function TIRAP allele. ...
... 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 ...
... 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. ...
... that leads to loss of dysbindin-1 in  homozygous 
Dysbindin-1 and Its Protein Family
Dysbindin-1 and Its Protein Family
Talbot, K.; Ong, W.- Y.; Blake, D. J.; Tang, J.; Louneva, N.; Carlson, G. C.; Arnold, S. E.
mice, which also shows a loss or reduction ...
... major microfibrillar proteins. The PDLs of  homozygous 
Dilated capillaries, disorganized collagen fibers and differential gene expression in periodontal ligaments of hypomorphic fibrillin-1 mice
Dilated capillaries, disorganized collagen fibers and differential gene expression in periodontal ligaments of hypomorphic fibrillin-1 mice
Ganburged, Ganjargal; Suda, Naoto; Saito, Masahiro; Yamazaki, Yosuke; Isokawa, Keitaro; Moriyama, Keiji
mgR mice showed one-quarter of the elastic ...
... CbCln3 wild-type, heterozygous, and  homozygous 
Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis
Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis
Fossale, Elisa; Wolf, Pavlina; Espinola, Janice A; Lubicz-Nawrocka, Tanya; Teed, Allison M; Gao, Hanlin; Rigamonti, Dorotea; Cattaneo, Elena; MacDonald, Marcy E; Cotman, Susan L
neuronal precursor cell lines, which can ...
... vs. CC), recessive model (CC + CT vs. TT),  homozygous 
Association between the MTHFR C677T polymorphism and risk of cancer: evidence from 446 case–control studies
Association between the MTHFR C677T polymorphism and risk of cancer: evidence from 446 case–control studies
Xie, Shu-Zhe; Liu, Zhi-Zhong; Yu, Jun-hua; Liu, Li; Wang, Wei; Xie, Dao-Lin; Qin, Jiang-Bo
model (TT vs. ...
... test, the exploratory activity of the  homozygous 
Targeted mutation of CCK2 receptor gene modifies the behavioural effects of diazepam in female mice
Targeted mutation of CCK2 receptor gene modifies the behavioural effects of diazepam in female mice
Raud, Sirli; Rünkorg, Kertu; Veraksitš, Alar; Reimets, Ain; Nelovkov, Aleksei; Abramov, Urho; Matsui, Toshimitsu; Bourin, Michel; Volke, Vallo; Kõks, Sulev; Vasar, Eero
(−/−) mice was significantly higher ...
... In case an affected individual carries a  homozygous 
The Power of Homozygosity Mapping: Discovery of New Genetic Defects in Patients with Retinal Dystrophy
The Power of Homozygosity Mapping: Discovery of New Genetic Defects in Patients with Retinal Dystrophy
Littink, Karin W.; Hollander, Anneke I.; Cremers, Frans P. M.; Collin, Rob W. J.
mutation, the same mutation is inherited ...
... its unique cerebellar phenotype.  Homozygous 
The Spontaneous Ataxic Mouse Mutant Tippy is Characterized by a Novel Purkinje Cell Morphogenesis and Degeneration Phenotype
The Spontaneous Ataxic Mouse Mutant Tippy is Characterized by a Novel Purkinje Cell Morphogenesis and Degeneration Phenotype
Shih, Evelyn K.; Sekerková, Gabriella; Ohtsuki, Gen; Aldinger, Kimberly A.; Chizhikov, Victor V.; Hansel, Christian; Mugnaini, Enrico; Millen, Kathleen J.
tippy mutant mice are small, ataxic, and ...
... capture in a familial case identified a  homozygous 
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue
Alazami, Anas M.; Al-Qattan, Sarah M.; Faqeih, Eissa; Alhashem, Amal; Alshammari, Muneera; Alzahrani, Fatema; Al-Dosari, Mohammed S.; Patel, Nisha; Alsagheir, Afaf; Binabbas, Bassam; Alzaidan, Hamad; Alsiddiky, Abdulmonem; Alharbi, Nasser; Alfadhel, Majid; Kentab, Amal; Daza, Riza M.; Kircher, Martin; Shendure, Jay; Hashem, Mais; Alshahrani, Saif; Rahbeeni, Zuhair; Khalifa, Ola; Shaheen, Ranad; Alkuraya, Fowzan S.
truncating variant in a novel and ...
... pure or complicated HSP resulting from  homozygous 
Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks
Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks
Souza, Paulo Victor Sgobbi; Rezende Pinto, Wladimir Bocca Vieira; Rezende Batistella, Gabriel Novaes; Bortholin, Thiago; Oliveira, Acary Souza Bulle
or compound heterozygous mutations in the ...
... expressing the transgene in hemizygous and  homozygous 
Relative transgene expression frequencies in homozygous versus hemizygous transgenic mice
Relative transgene expression frequencies in homozygous versus hemizygous transgenic mice
Chang, Su-Ping; Opsahl, Margaret L.; Whitelaw, C. Bruce A.; Morley, Steven D.; West, John D.
mosaic 21OH/LacZ mouse adrenals and mosaic ...
... and ApoE ε4/ε4 homozygosity an ApoE ε4/ε4  homozygous 
A large ApoE ε4/ε4 homozygous cohort reveals no association with Parkinson’s disease
A large ApoE ε4/ε4 homozygous cohort reveals no association with Parkinson’s disease
Multhammer, Manuel; Michels, Andreas; Zintl, Maria; Mendoza, Maria Cristina; Klünemann, Hans-Hermann
cohort was compared with an ApoE ε3/ε3 ...
... a panel of cell lines partially or fully  homozygous 
Very long haplotype tracts characterized at high resolution from HLA homozygous cell lines
Very long haplotype tracts characterized at high resolution from HLA homozygous cell lines
Norman, Paul J.; Norberg, Steve J.; Nemat-Gorgani, Neda; Royce, Thomas; Hollenbach, Jill A.; Shults Won, Melissa; Guethlein, Lisbeth A.; Gunderson, Kevin L.; Ronaghi, Mostafa; Parham, Peter
for HLA class I and II was assembled over ...
... GCD2-heterozygous (n = 1), and GCD2-  homozygous 
Histone methylation levels correlate with TGFBIp and extracellular matrix gene expression in normal and granular corneal dystrophy type 2 corneal fibroblasts
Histone methylation levels correlate with TGFBIp and extracellular matrix gene expression in normal and granular corneal dystrophy type 2 corneal fibroblasts
Maeng, Yong-Sun; Lee, Ga-Hyun; Choi, Seung-Il; Kim, Kyu Seo; Kim, Eung Kweon
(n = 3) primary human corneal fibroblasts ...
... and/or severe hepatic disease who are  homozygous 
Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis
Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis
Usta, Julnar; Daya, Hussein Abu; Halawi, Houssam; Al-Shareef, Ibraheem; El-Rifai, Omar; Malli, Ahmad H.; Sharara, Ala I.; Habib, Robert H.; Barada, Kassem
for W939C missense mutation on exon 12 of ...
... apparent), 8 of 50 dogs were found to be  homozygous 
A retrospective study of the prevalence of the canine degenerative myelopathy associated superoxide dismutase 1 mutation (SOD1:c.118G > A) in a referral population of German Shepherd dogs from the UK
A retrospective study of the prevalence of the canine degenerative myelopathy associated superoxide dismutase 1 mutation (SOD1:c.118G > A) in a referral population of German Shepherd dogs from the UK
Holder, Angela L; Price, James A; Adams, Jamie P; Volk, Holger A; Catchpole, Brian
and a further 19 were heterozygous for the ...
... to the Arg389Gly-β1AR genotype. Patients  homozygous 
In patients chronically treated with metoprolol, the demand of inotropic catecholamine support after coronary artery bypass grafting is determined by the Arg389Gly-β1-adrenoceptor polymorphism
In patients chronically treated with metoprolol, the demand of inotropic catecholamine support after coronary artery bypass grafting is determined by the Arg389Gly-β1-adrenoceptor polymorphism
Leineweber, Kirsten; Bogedain, Petra; Wolf, Christina; Wagner, Sören; Weber, Melanie; Jakob, Heinz-Günther; Heusch, Gerd; Philipp, Thomas; Brodde, Otto-Erich
for the Arg389-β1AR variant (n = 45) ...
... 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 ...
... objective of this study was to analyze the  homozygous 
Biased Homozygous Haplotypes Across the Human Caveolin 1 Upstream Purine Complex in Parkinson’s Disease
Biased Homozygous Haplotypes Across the Human Caveolin 1 Upstream Purine Complex in Parkinson’s Disease
Darvish, Hossein; Heidari, Abolfazl; Hosseinkhani, Saman; Movafagh, Abolfazl; Khaligh, Ali; Jamshidi, Javad; Noorollahi-Moghaddam, Hamid; Heidari-Rostami, Hamid Reza; Karkheiran, Siamak; Shahidi, Gholam-Ali; Togha, Mansoureh; Paknejad, Seyed Mohammad Hassan; Ashrafian, Hossein; Abdi, Siamak; Firouzabadi, Saghar Ghasemi; Jamaldini, Seyed Hamid; Ohadi, Mina
haplotype compartment of the human ...
... controls. In our analyses, we identify one  homozygous 
Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer’s disease
Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer’s disease
Nalls, M. A.; Guerreiro, R. J.; Simon-Sanchez, J.; Bras, J. T.; Traynor, B. J.; Gibbs, J. R.; Launer, L.; Hardy, J.; Singleton, A. B.
region on chromosome 8 that is ...
... expression of YWHAQ (14-3-3-theta).  Homozygous 
Tiling resolution array CGH and high density expression profiling of urothelial carcinomas delineate genomic amplicons and candidate target genes specific for advanced tumors
Tiling resolution array CGH and high density expression profiling of urothelial carcinomas delineate genomic amplicons and candidate target genes specific for advanced tumors
Heidenblad, Markus; Lindgren, David; Jonson, Tord; Liedberg, Fredrik; Veerla, Srinivas; Chebil, Gunilla; Gudjonsson, Sigurdur; Borg, Åke; Månsson, Wiking; Höglund, Mattias
deletions were identified at 10 different ...
... 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 ...
... (75.9%). Of the PRA controls none are  homozygous 
A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever
A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever
Downs, Louise M; Wallin-Håkansson, Berit; Bergström, Tomas; Mellersh, Cathryn S
for the mutation, only 3.5% carry the ...