id
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30
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3 values
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stringclasses
5 values
3DWGDA5POF4T1WYYSB66U6T3TLB1V1
biomed
Moreover, the observed transcriptional shift in ETS signaling is paired with the onset of appropriate regulation of neuronal subtype specification and establishment of axonal projections into the target area.
specification
0.359375
easy
3ATYLI1PRT256T55HOQY3EVHR8LOJV
biomed
As of yet there is no evidence for quinine activation of T2Rs from functional assays of these receptors in heterologous cells or membrane preparations, likely due to the lipophilic nature of quinine [23].
receptors
0.222222
easy
3QTFNPMJC6IDONAXYVT7CJJ2KWNZN6
biomed
The total number of olfactory receptors for which gene structure is known is vastly increased by our study.
receptors
0.357143
easy
36FQTHX3Z3RA2LE7AYTPHNETOCBB3X
biomed
Alternatively (or in addition), another male-specific factor normally dependent on Sry may be required to sustain SOX9 expression, possibly FGF-binding proteins in the extracellular matrix or FGF receptors.
receptors
0.361111
easy
3XUY87HIVPE77YQE75ODR2YT021MMI
biomed
However, it appears that these two TGF-β/BMP type I receptors contribute to OFT rotation through different mechanisms.
receptors
0.397727
easy
3VCK0Q0PO5EGM247U1GF6KGG2PAN08
biomed
In most cases the receptors on phagocytes that recognize these PS-bridging molecules have not been defined, but it has been reported that GAS-6 is a ligand for the tyrosine kinase receptor Mer and that MFG-E8 can bind to the vitronectin receptor αvβ3 [16,24].
receptors
0.472222
neutral
3XU80RHWHZGBZIC2VXOLJE0TSKQ445
biomed
Consequently, our data, and data from other studies, suggest that the complete lack of D2Rs in the olfactory bulb does not prevent transduction of olfactory stimuli; rather it affects the ability to habituate, or tune, olfactory nerve activity associated with repeatedly encountered concentrations of chemical stimuli [32].
chemical
0.222222
easy
34D9ZRXCYRU93SUUUZUUUK2ZYAUSAG
biomed
We screened mice treated with the chemical mutagen N-ethyl-N-nitrosourea (ENU) for lines with developmental defects that present in the perinatal period [14].
chemical
0.233333
easy
3OZ4VAIBEXF0WDE2I0CCY6PPN1IVJ4
biomed
It has been reported that inhibition of cholesterol biosynthesis by chemical inhibitors of Dhcr7 also led to a disturbance of the Shh signaling with abnormal embryogenesis [27,28], and severe sterol deprivation can indeed inhibit the processing of transfected Shh in cultured mammalian cells [29].
chemical
0.326087
easy
3QQUBC64ZEEOJSAIXD5MFY3RCWQXN8
biomed
Thus, impaired gas exchange, as opposed to poor inflation and alveolar tension, may be the cause of respiratory failure in these pups.
tension
0.222222
easy
32L724R85LKRWIX0E6IDGDL7OYNIPP
biomed
In natural environments, color variation is a nearly universal mechanism for recognition, camouflage, or both; consequently, a large number of pigment patterns have been characterized from an evolutionary and ecological perspective (Boughman 2001; Jiggins et al. 2001).
environments
0.223684
easy
34YWR3PJ28ALYWIBW73O4M7E43G0X1
biomed
A positive perchlorate discharge test and an enlarged vestibular aqueduct appear to be the most reliable clinical signs of Pendred syndrome [5].
discharge
0.265625
easy
31SIZS5W59FPPT1Y46RBUAC8GRQQRS
biomed
The exchange strategy is detailed in Figure 3A.
exchange
0.223684
easy
3MJ9GGZYO36GYTDW0KFO32PV0HOA2Q
biomed
Together, previous studies indicate that an optimal RMCE requires (i) inverted heterologous loxP sites diverging by at least 2 nt to maximize the efficiency of exchange and (ii) an expression cassette enabling both positive selection to identify the initial recombinant and then negative selection to obtain a ‘marker-free’ mutant allele (14).
exchange
0.28125
easy
35ZRNT9RUIYULF3GE3YBN7ESVBUO3E
biomed
In the vertebrate limb, each digit can be uniquely identified based on its size, length, number of phalanges, and location within the autopod.
location
0.223684
easy
3E9VAUV7BWE6ZE63T5MJC6Q0FVLAY7
biomed
Since virtually all M-opsin–expressing cells are localized at the outer edge of the ONL by P28 in the rd7 mutant (Figure S8), any increase in M-opsin transcript in the mutant must have occurred in cells in that location.
location
0.263889
easy
32TMVRKDGNYCIJZ470EY0QGYU6M48C
biomed
In natural environments, color variation is a nearly universal mechanism for recognition, camouflage, or both; consequently, a large number of pigment patterns have been characterized from an evolutionary and ecological perspective (Boughman 2001; Jiggins et al. 2001).
mechanism
0.225
easy
3BVS8WK9Q0VPSOWQV10CLTGI7U8IB4
biomed
ITPR1 mutations have more than one potential pathogenic mechanism.
mechanism
0.265625
easy
3GL25Y6843UI1APILCQM2JER76GMXX
biomed
These results were thought to support a direct role for annexin A7 in surfactant secretion, but in these studies annexin A7 mediated membrane fusion was separated from a second GTP-dependent mechanism [38].
mechanism
0.266667
easy
33N1S8XHHMLAAG38T8V9FC6ZHVIZ1Y
biomed
Similarly, although the liver secretes free cholesterol into bile, it can preferentially excrete non-cholesterol sterols into bile and the mechanism(s) of this process has yet to be elucidated as well.
mechanism
0.267857
easy
3DA79LNS59VAY78OAKKAHHKFUK93TF
biomed
The deficient capacity of D2R-/- mice to disengage inappropriate decision strategies strongly argues that mesolimbic dopamine signaling, mediated by dopamine D2Rs is essential for efficient reversal learning to occur.
reversal
0.225
easy
362E9TQF2HQLJ541BNSQM47FN75IGQ
biomed
Additionally, a previous report demonstrated that excitotoxic lesions of terminal field targets of mesocortical dopamine have been shown to disrupt reversal learning [19].
reversal
0.573529
neutral
3Z33IC0JC0MBQ11TWOLZ9CBMRXYV93
biomed
Mice with forebrain-specific GluR-B depletion appeared almost completely normal throughout life with no developmental abnormalities, thus permitting a detailed, quantitative investigation of olfactory behavior.
depletion
0.225
easy
3VGET1QSZ0ZKR7D571SBHI3U3FF7WE
biomed
In contrast, centric domains showed an intensity and shape similar to control cells, suggesting that they remain unaffected by p150CAF-1 depletion (Figure 4C and 4D).
depletion
0.265625
easy
341YLJU21IZV4BWUC871K0DEDPTI22
biomed
In contrast, in undifferentiated cells that are already lineage committed (such as MEFs) genome architecture might be more stable than in ES cells and thus cannot be disrupted by CAF-1 depletion.
depletion
0.333333
easy
3BAWBGQGYLZ7CID0HRNFVGKGW6D7V4
biomed
Here, we have analyzed the importance of CAF-1 during early mouse development by genetic ablation and in ES cells by depletion using RNA interference (RNAi).
depletion
0.388889
easy
3SNR5F7R92TNZR8A5S22M1M3ARQEI5
biomed
The enhanced sensitivity to cadmium toxicity that we found for mouse embryonic fibroblasts upon a combination of Mtf1 deletion and depletion of glutathione further corroborates the importance of MTF-1 and its target genes as well as reduced glutathione for an efficient anti-cadmium defense.
depletion
0.45
neutral
3RDTX9JRTY19FB0XEQIJ3YVJ5FS79O
biomed
Gender differences in CIA susceptibility are dependent on many factors, including genetic, hormonal and behavioral influences [9].
influences
0.225
easy
3VW0145YLYCH6QKT48BLBA6CW81JM6
biomed
In a simple model, such a binding could interfere with the accessibility of the transcriptional start site for RNA polymerase II and/or general transcription factors, thus preventing transcription initiation of the gene.
accessibility
0.225
easy
3ICOHX7ENCBCSWRU12DWGXM7OY20ER
biomed
The mab-3 gene of Caenorhabditis elegans has been shown to function analogously to DSX in several respects and can be functionally replaced by the male isoform of DSX, suggesting that the similarity in the sequence of these genes may stem from conservation of an ancestral DM domain sexual regulator [18,21,22].
respects
0.225
easy
3XEIP58NL0NN0N7CMIDSZRFDF1TLZW
biomed
At 6 mo, half of the animals were switched from normal chow to food containing dox at 200 mg/kg until they were sacrificed at 9 or 12 mo of age.
chow
0.225
easy
38O9DZ0A62NFBR1TA7YCNXN94X026S
biomed
Abcg8-/- mice appeared normal and healthy maintained on a regular rodent chow diet.
chow
0.275
easy
3IWA71V4TIGGC74QYWJ5DNH5H7Z6X7
biomed
The remaining control animals were kept on standard chow (untreated).
chow
0.275
easy
3CVDZS288H011OYXLIK0WCEK31KFMZ
biomed
We did not find evidence for glucose intolerance or insulin resistance in the PGC-1α−/− animals on standard chow.
chow
0.367647
easy
37G6BXQPLQL0GPWTI07BV3DP117QEK
biomed
We compared the levels of human transgene-derived Aβ40 and Aβ42 in untreated mice at 4 and 6 wk of age to animals that had either been born and raised on dox or that had been left untreated for 4 wk and then placed on dox chow for 2 wk prior to harvest (the same groups described above for immunoblot analysis of APPswe/ind levels, line 107).
chow
0.411765
neutral
3ZZAYRN1I6RZKW1ATI425KIQPB5TO0
biomed
Similar observations have been made by Furuta and colleagues when they used recombinant sindbis virus for the labeling of dendrites and axons within the CNS of adult mice [10].
virus
0.22619
easy
3IHWR4LC7DD6QQYJSPG2URQHZOSI8A
biomed
In further support of this conclusion, analysis of protein levels of ITPR1 in Epstein-Barr virus (EBV) immortalized lymphocytes from affected and unaffected AUS1 family members revealed that all affected members showed a dramatic decrease in ITPR1 levels when compared with the family member without the deletion (Figure 4).
virus
0.25
easy
3P458N04Q1HSU6LPBU72NA0T1152XS
biomed
Interestingly, the lower lung/body ratios at E18.5 in Dhcr7-/- embryos compared to wild-type suggested a disproportionate inhibition of lung growth than other organs.
embryos
0.230769
easy
32LAQ1JNT9PUX1L7P4GB4QAF7WVUTE
biomed
Since we were unable to obtain ES cells, embryos or mice with widespread expression of a RFP (DsRed1) we conclude that this reporter is not developmentally neutral or that its expression cannot be sustained at levels high enough for detection, and as such is not as versatile as other gene-based fluorescent reporters.
embryos
0.28125
easy
3X55NP42EOGC6FFHT3BQC7JI5GQ3PA
biomed
In agreement with a recent report [40], our analysis of heterochromatin in pre-implantation embryos has revealed drastic changes in nuclear organization between the two-cell and blastocyst stages.
embryos
0.366667
easy
3PKVGQTFIHKYYVSKVG857WFAFZERY1
biomed
To investigate the role of this protein during mouse development, we generated a conditionally deleted allele of the Atrx gene in mouse embryonic stem (ES) cells, and used these cells to examine the effect of ablating expression of the full-length Atrx protein in ES cells and in mouse embryos.
embryos
0.375
easy
3THR0FZ95PTB1JT5K92BJT89VXLLOP
biomed
In a recent in vitro study [43], mouse embryonic fibroblasts (MEFs) from Dhcr7-/- embryos, grown in lipid-depleted culture and transiently treated with cyclodextrin, showed no affect on Shh processing.
embryos
0.40625
neutral
3NRZ1LDP7W6DR8MAEA6ZG8OXKBPPZT
biomed
This mutant demonstrates slow retinal degeneration and abnormal lamination of the ONL with rosette formation [15,16].
degeneration
0.232143
easy
33NOQL7T9OZSLGNTST4OUMT7V1OZ8I
biomed
Histological evaluation of cryosections revealed an enlargement of scala media with a large bulging of Reissner's membrane and an apparent degeneration of the organ of Corti, as described earlier [14].
degeneration
0.264706
easy
3XAOZ9UYRZR1WO2H6CCWOJUVCS41QD
biomed
The diffuse cardiomyopathy with multifocal myocyte degeneration and necrosis observed in MCAD−/− mice has not been reported in human MCAD patients, however, cardiac arrhythmias and dysfunction have been reported in MCAD-deficient patients [17, 18].
degeneration
0.359375
easy
362E9TQF2HQLJ541BNSQM47FN70GIJ
biomed
The observation that endolymphatic and perilymphatic K+ concentrations were normal in Slc26a4-/- mice suggests that stria vascularis was able to secrete K+ in spite of the apparent signs of degeneration.
degeneration
0.375
easy
33EEIIWHK77HI0IFDQWLV71B1X3QVL
biomed
Interestingly, sensory hair cells in the cochlea appear normal until postnatal day (PD) 7 but show clear evidence of degeneration by PD 15 [14].
degeneration
0.434211
neutral
329E6HTMSW2BVOI1GB6IGQXJB6L3KA
biomed
However, the XY body appeared intact in most mutant spermatocytes upon probing with several markers of XY heterochromatinization (unpublished observations).
markers
0.232143
easy
3Y3N5A7N4G971FFSQ8COLXL09CFMY8
biomed
Although advances in the medical management of pulmonary hypoplasia may have decreased the mortality associated with CDH patients who survive to receive care at high-volume centers [2,3], the population-based mortality has been reported to be as great as 62%, and there are a large number of deaths prior to birth or to transfer to a tertiary care facility [4].
management
0.315789
easy
3GMLHYZ0LEXQENK1ZA3AC72UMZAUY2
biomed
An animal model for MCAD deficiency is essential to better understand the pathogenesis of MCAD deficiency and to develop better management regimens for human patients.
management
0.369565
easy
3M93N4X8HKNK4LXYO577NJ5IOXOSJW
biomed
As discussed subsequently, the ATP deficits in the retina likely account for the reduced electrophysiological responses of retinal neurons (Figure 8).
responses
0.232143
easy
3SR6AEG6W5TL91EHZBWBTSD4SR9HYP
biomed
It is somewhat puzzling that 22 of the 24 Tas2rs examined encode variant proteins in B6 and D2 mice even though these strains exhibit similar taste responses to bitter compounds such as DB or cyclohexamide [47].
responses
0.233333
easy
3T2HW4QDUV7FRSVT57QUJKNX6PLC9M
biomed
Human DMRT1 maps to an autosomal locus, which, when hemizygous, is associated with defective testicular development and consequent XY feminization [30].
maps
0.232143
easy
3ACRLU860NEDCJU4ZIAL0EIQF16BET
biomed
Mutations in two different ligands in the BMP family, Gdf5 and Gdf6, the Bmpr1b receptor, and in the human Noggin locus (Storm and Kingsley 1996; Gong et al. 1999; Baur et al. 2000; Yi et al. 2000; Settle et al. 2003) also produce defects in joint formation at specific locations in the limbs.
limbs
0.233333
easy
3IZVJEBJ6AK5H245ZE7QA8XGP656ZA
biomed
A considerable percentage of cardiac birth defects is caused by a failure in normal migration, differentiation or patterning of the cardiac neural crest (CNC).
patterning
0.233333
easy
3PGQRAZX02KAZASXA58AX6K612QYSR
biomed
To investigate the roles of BMP signaling at various stages of limb patterning and skeletogenesis, we constructed a series of mice deficient singly or in combination in the ability to produce BMP2, BMP4, and BMP7.
patterning
0.25
easy
3RQVKZ7ZRKJYFRFYTH34TBN5Z8Q27X
biomed
BMP activity also plays an indirect role in limb patterning as a key component of a feedback loop between SHH production in the posterior limb bud and fibroblast growth factor production in the overlying apical ectodermal ridge (AER).
patterning
0.3375
easy
3NRZ1LDP7W6DR8MAEA6ZG8OXKCMPZS
biomed
A second study in Drosophila examined the effects of Pygo mutation on cuticle patterning, midgut constriction, central nervous system, and cardiac development, and concluded that "Pygo is an essential component in the Wg signal transduction pathway".
patterning
0.338235
easy
3TTPFEFXCTKJQH4BTS1JA1TBTGO6HK
biomed
Our data suggest that ALK5 is required cell autonomously in the NC to mediate non-redundant signaling events that are essential for appropriate patterning of the pharyngeal organs and cardiac OFT.
patterning
0.359375
easy
3JVP4ZJHDPSO81TGXL3N1CKZGQHI0O
biomed
Actin filament formation has been shown to be necessary for the differentiation of lens epithelial cells [15], however, the significance of alpha-crystallin interaction with actin in differentiation is not known.
significance
0.233333
easy
3INZSNUD80QPWK1753L53Q5FRPXD9N
biomed
Although actin filament formation has been shown to be necessary for differentiation of lens epithelial cells [15], the significance of alpha-crystallin's interaction with actin in differentiation is not known.
significance
0.25
easy
3Q2T3FD0ON86LCI41NJYV3PN0BL3MK
biomed
Here we report the application of this integrated approach to study the significance of sex on the genetic determinants of obesity and the associated regulation of liver gene expression in an F2 intercross derived from the inbred strains C57BL/6J (B6) and C3H/HeJ (C3H) on an apolipoprotein E null (ApoE−/−) background.
significance
0.3
easy
3L2OEKSTW9ASGQDOW725GFK5P7Q8Y6
biomed
The adaptive significance of such a change, if any, is unknown, and it may simply be due to relaxation of selective pressure for night vision in this strictly diurnal species.
significance
0.35
easy
3U18MJKL1UM0GUZN6H9Z1LIHBE8CNR
biomed
In those two misexpression cases, Sox9 expression may have been artificially sustained by exogenous regulatory sequences that bypass the fine dosage balance in this signaling network.
dosage
0.233333
easy
3TZDZ3Y0JS6V4PLVPA1A2O462SU91T
biomed
In 54 wk alphaA/BKO lenses, large, irregularly shaped cells were observed, interspersed among regions of high membrane staining density per unit area.
unit
0.233333
easy
32FESTC2NHQDBKJW3ILLFGABJBTCUD
biomed
SLC co-conceived of the study, participated in establishment and phenotypic analysis of cell lines, and drafted the manuscript.
lines
0.233333
easy
3X2YVV51PU46GLY3ILB2G8CH0UD1WB
biomed
For example, the BXD RI lines exhibited a range of quinine sensitivity, with several strains having similar sensitivities to that of B6, some strains with sensitivities similar to that of D2, and a third group with a more intermediate phenotype (Figures 1, 7).
lines
0.25
easy
351S7I5UG9WNO85TG9QLOPVC1YGNJF
biomed
To confirm these results biochemically, we transfected the same cell lines (wild-type AQP2 or vector) with F204V-GFP, biotinylated surface proteins after forskolin stimulation, and precipitated the biotinylated proteins (Figure 5D).
lines
0.288462
easy
3NSCTNUR2ZN8XQWJI3HM19S7KQH5AM
biomed
Second, forced expression studies in adipogenic and myogenic mammalian cell lines demonstrated that PGC-1α activates mitochondrial biogenesis through a group of transcription factor targets including nuclear respiratory factors 1 and 2 (NRF-1 and -2) and mitochondrial transcription factor A (Tfam), key transcriptional regulators of mitochondrial DNA transcription and replication [8].
lines
0.305556
easy
3ZTE0JGGCESIYFZZ7W9CGAIM1OCOCH
biomed
AQP2-F204V-GFP is expressed approximately equally in both cell lines (Figure 5D, total cells), but is biotinylated only when wild-type AQP2 is also expressed (Figure 5D, surface biotinylated).
lines
0.333333
easy
3KQC8JMJGCSKTYHTAQ3L3YHRJPH3H6
biomed
With the completion of the genome sequencing projects of human, mouse, rat, fruit fly and nematodes, we are now in a position to ask fundamental questions in regard to how genes interact in the context of the whole organism.
sequencing
0.233333
easy
3OJX0UFJ0Z7BDMCTRYBUDQ93DPXU9J
biomed
More importantly, sequencing hg modifier candidates allowed us to identify nonsynonomous polymorphism, which may underlie QTL.
sequencing
0.392857
easy
306996CF6WKESI0SNUF6TUZWQSX1BV
biomed
Therefore, signature genes of the diseases could be identified by detecting the expression patterns of the disease-related cells/tissues and their ideal controls.
signature
0.234375
easy
3J6BHNX0U9SIZSBBYUQXP4VPGNGKNB
biomed
Such aggregates, which are often found at the nuclear periphery, are also revealed by DAPI staining as a typical signature of p150CAF-1 loss-of-function.
signature
0.46875
neutral
3126F2F5F83FGDVEINSMVYNFW5MEPI
biomed
The ability of Abcg8-/- mice to secrete bile salt and phospholipid into bile as compared to wild-type mice was not significantly impaired.
salt
0.234375
easy
344M16OZKIFFDSJ128FUR9IKWQFENG
biomed
These are problems because multiple infrequent polymorphisms at different sites may all contribute to risk and unless the key polymorphisms can be identified through a functional test, a statistically valid assessment would require much larger study populations [27].
populations
0.234375
easy
3R0WOCG21M9NGCPA3EGWZMST4ACUD0
biomed
Patients with TTD additionally display hallmark sulphur-deficient brittle hair and nails and scaling skin [13], resulting from a basal transcription defect in specific cell types [16,17].
nails
0.271739
easy
3QO7EE372ON29MK9895LUV74Y4PBQ0
biomed
These studies provide a clear link between PAX6 function in the retina and the brain, and are of particular relevance to the neurological phenotypes of individuals with PAX6 mutations.
individuals
0.234375
easy
3VDVA3ILIDFAJZ833G7KU5QT66O1GD
biomed
However, there are alternative explanations for the observed correlation of CEBPG with antioxidant and DNA repair genes in non-BC individuals.
individuals
0.235294
easy
3EHIMLB7F7Z6UVNZM7YHUFP2ZB8H8B
biomed
When sensory axons contact developing myotubes, they induce muscle spindle differentiation, forming ring-like spiral nerve endings around them.
endings
0.234375
easy
3L60IFZKF3IZN6OSPBSN7SI12U4HHW
biomed
In contrast, we selected not only against known QTL, we also screened for genome wide heterozygosity increasing the probability that effects observed are due to genetic variation within each donor region.
variation
0.234375
easy
3LAZVA75NIR50X7XA3K64X90PXUO23
biomed
At 54 wk, these cells in the alphaA/BKO lenses were larger in cross sectional diameter than wild type, and exhibited a much greater variation in the cross sectional size and cell shape.
variation
0.25
easy
3N2YPY1GI6YSLXSA4Z1L1QCXITHEVX
biomed
First, that there is inter-individual variation in regulation of key antioxidant and DNA repair genes by one or more transcription factors.
variation
0.265625
easy
3WGCNLZJKF877FYC1Q6COKNWTDF1D8
biomed
In the laboratory, color variation has been the subject of vertebrate genetics for more than a century (Searle 1968; Silvers 1979), and many pigmentary components have been identified whose actions are understood in a cellular or organ-based context (reviewed in Bennett and Lamoreux 2003).
variation
0.283333
easy
38LRF35D5LWPYKNDAPAKMD6HDYGU3X
biomed
For example, ectopic application of BMP antagonists demonstrates that BMP signaling is necessary for this process, and in its absence, webbing occurs [17–19]).
application
0.235294
easy
3LN50BUKPVBTMJ56Z9FQ8TDZ52MPLF
biomed
Thus, with the appropriate application of bioinformatics, it is now possible to trace the lineage of particular genes and gene families, with related gene families in other organisms.
application
0.309524
easy
3I01FDIL6M8EW0G8KU6QT3X1LJND2V
biomed
The strong expression levels produced with the tet-off vectors, combined with the ability to reduce this expression by several orders of magnitude with tetracycline [14], allowed for a stringent test of how a highly effective pharmaceutical inhibitor of Aβ production would impact the progression of amyloid pathology and whether reversal of these lesions might be possible following such treatment.
orders
0.235294
easy
356TQKY9XFX916HN9YC53208L8C870
biomed
In the absence of a dominant (wild-type [wt]) allele, genetic interactions between recessive alleles (referred to here as “biallelic” effects) could result in different phenotypic outcomes including interallelic complementation.
outcomes
0.235294
easy
32CAVSKPCEPTOH9YNLW1YKRKFE21UC
biomed
In undifferentiated cells the protein is equally distributed between cytosol and membrane fractions while in differentiated cells it is exclusively present in the membrane fraction [7].
fractions
0.235294
easy
3MQY1YVHS3KLH3IO6YFKYD91IYB2BD
biomed
In all animals harboring amyloid deposits, we found that the vast majority of Aβ (>99%) was extracted into the SDS and FA fractions (Figure 5A and 5B).
fractions
0.25
easy
3PIOQ99R7YMW2OGNS8UZVR4NIE9NU6
biomed
Our initial observations suggested the affected mice suffered from an apparently paroxysmal movement disorder, often induced by touch.
touch
0.235294
easy
375VMB7D4JJI7LUA9XRIGJ4IAFKDI6
biomed
The progressive loss of afferent and efferent innervation in Brn3c null mutants shows neither in spatial nor in temporal pattern a resemblance to losses reported in simple BDNF or NT-3 null mutations [6].
losses
0.235294
easy
3HA5ODM5KASTVGXS5ULQQ7GCJKQSVC
biomed
These studies indicate that Sox9 plays a central role in sex determination.
determination
0.235294
easy
3S4TINXCC0NZOA7TTWDH5QC4J3CBOX
biomed
Indeed, the ectopic expression of the QKI-6/7 isoforms in vivo led to the formation of glial cells rather than neurons from neural progenitor, demonstrating its role in cell fate determination [34].
determination
0.361111
easy
308KJXFUJR6AIS79JZZK4PYL0T8TA6
biomed
During the last few years the Wnt1-Cre transgenic driver line has proven to be a powerful tool for tissue-specific gene deletion in NCCs [12,13,27,28].
deletion
0.235294
easy
391JB9X4ZY8CHAQBMTBXCP6PBX6MKD
biomed
The data provided by these approaches provide compelling evidence that heterozygous deletion of ITPR1 causes SCA15.
deletion
0.272727
easy
3Y3CZJSZ9KT0W7I0KE38WZHHKUAR5L
biomed
These experiments showed deletion at the SCA15 locus in all affected members assayed, from SUMF1 through ITPR1.
deletion
0.275
easy
35A1YQPVFEGN38FHUR9ZI7GQXYM5IQ
biomed
Inactivation of this gene due to chromosomal rearrangement or deletion would result in a heterozygous null mutation similar to that found in the patient we report.
deletion
0.426471
neutral
3TKXBROM5TAVA7U2JTDTJHZVFZMIJU
biomed
Here we describe this effort and the discovery of deletion at the ITPR1 locus as a cause of this disorder in mice and of spinocerebellar ataxia 15 (SCA15) in humans.
deletion
0.453125
neutral
3QQUBC64ZEEOJSAIXD5MFY3RCWVXND
biomed
The murine Tif1α and Tif1γ genes have not yet been subjected to gene targeting experiments, whereas analysis of mouse mutants demonstrates that Tif1β is required for postimplantation embryogenesis and mesoderm induction in particular (Cammas et al. 2000).
targeting
0.236111
easy