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3 values
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5 values
3ABAOCJ4R84YSDO6ZYVU8BIYA3YMQ5
biomed
We first tested DNA CpG methylation [25] at major satellite repeats and found no significant difference between control and p150CAF-1-depleted cells (Figure 6).
Figure
0.236111
easy
31GECDVA9JM3TSKUX9AFDA4LK2766I
biomed
Activating E2fs may also promote apoptosis in the Rb KO retina (Figure 1B).
Figure
0.283333
easy
3GKAWYFRAPTAO7HEMSH2PG5UWTKPDZ
biomed
To confirm that the arrest of plaques without any sign of clearance was not unique to the line 107 mice, we repeated the dox-suppression experiment in a second line of tet-off APP mice (CaMKIIα-tTA × tet-APPswe/ind line 18; n = 22).
sign
0.025
very easy
3L21G7IH47WA5QT3XMTQ15XXB2E1YB
biomed
However, the control mice used in this study were heterozygous for a null allele of Bmpr1a, and they showed little sign of osteoarthritis even late in life.
sign
0.211538
easy
3L21G7IH47WA5QT3XMTQ15XXB1F1YA
biomed
Heterozygous animals showed intermediate amounts of all three forms.
amounts
0.025
very easy
3TL87MO8CMPHV6GCL6JLWZZV3WZLF8
biomed
A typical western diet contains relatively equal amounts of cholesterol and non-cholesterol sterols, mainly plant sterols, of which about 55% of the dietary cholesterol is absorbed and retained compared to ~1% of the dietary non-cholesterol sterols [1-3].
amounts
0.183333
very easy
37YYO3NWHDQHPQ2WHR0LLAO5CBMCC3
biomed
If small amounts of PGC-1α activity are present in the mice reported here, it could explain some of the observed differences between the models.
amounts
0.191176
very easy
3E22YV8GG16JAJ8RBMV5LLHOAXMNPF
biomed
In the embryo, alterations in the determination or migration of melanoblasts from the neural crest affect the number or distribution of pigment cells in the skin (reviewed in Reedy et al. 1998).
skin
0.025
very easy
3YKP7CX6G2FS34FUCAWFU4Q9TFV7BY
biomed
In addition, the protein is overexpressed in human cancers of many tissues, such as lung, liver, brain, breast, kidney and skin (40).
skin
0.05
very easy
3GS542CVJVNUS7MEQX3M5EHNE8Z95B
biomed
By positional cloning and gene targeting, we identify an allele of droopy ear, deH, as a loss of function for Tbx15, which encodes a T-box transcription factor expressed in a dynamic and spatially restricted manner in the developing skin and musculoskeletal system.
skin
0.25
easy
3OCZWXS7ZO7PT9NNFU6CAN8IE3E5L4
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].
skin
0.291667
easy
3FVBZG9CLJEOC6IWR3L210JKGDX0H8
biomed
Activity levels appeared to follow a relatively normal diurnal cycle, decreasing substantially during the daylight hours.
daylight
0.025
very easy
386659BNTLHD8VXIPEIH9D3DZO610F
biomed
Are some olfactory receptor mRNAs more stable than others, leading to higher transcript levels per expressing cell?
others
0.025
very easy
338GLSUI43B4ZJB25FGM8LDQVQ7FSG
biomed
We, as well as others, have proposed Abcg5/sterolin-1 and Abcg8/sterolin-2 to function as obligate heterodimers.
others
0.223684
easy
3G4VVJO6PZGI2DNOE93PTT0KG3AKP2
biomed
Therefore, we, and others, set out to discover huntingtin's essential activities by studying the effects of huntingtin deficiency in the mouse.
others
0.225
easy
3P7QK0GJ3TLHZ1L4CCVNKVG492VZ2G
biomed
However, more detailed quantification by others [3] reported that at P4 about 77% of vestibular neurons and only 29% of spiral neurons are lost.
others
0.328125
easy
32PT7WK7DMF3HICROUKVCD2TRXND36
biomed
Susceptibility to most complex diseases is controlled by many genes, each having a small effect on the disease.
diseases
0.025
very easy
3QD8LUVX4XYKT34CTD90LH35LBV5XV
biomed
Additional studies with this system should greatly enhance our knowledge of the development, function, and disease mechanisms of joints, and may bring us closer to better prevention and treatment of joint diseases.
diseases
0.125
very easy
3FSEU3P2NR0P1UGYHLGBZ0MDCCZRRZ
biomed
In addition, mutations of human CRX have been demonstrated to be associated with three types of photoreceptor diseases: autosomal dominant cone-rod dystrophy 2, autosomal dominant-type retinitis pigmentosa, and Leber's congenital amaurosis (LCA) [11-14].
diseases
0.15625
very easy
34KYK9TV2R8EM2ZM0DUQPVM5GSASB6
biomed
Hence, RanBP2 and its partners emerge as key players and target genes in mediating neuropathophysiological mechanisms implicated in various genetic and environmental lesions to the CNS, as in patients with Parkinson, diabetes with insulin-resistance, and other neuropathies and neurodegenerative diseases, often linked to aging manifestations.
diseases
0.197368
very easy
3B9XR6P1WEVLNZGWDJLCXUVIK92BJE
biomed
Lastly, we propose that the PGC-1α−/− mice should serve as a useful murine model to investigate the role of altered energy metabolism in obesity, diabetes, hepatic steatosis, and diseases of the heart, skeletal muscle, and central nervous system.
diseases
0.288462
easy
3QD8LUVX4XYKT34CTD90LH35LBQ5XQ
biomed
Although missense mutation of ITPR1 had previously been ruled out [2] and the mode of inheritance was inconsistent with that seen in the Itpr1Δ18 and Itpr1opt mice, the phenotypic presence of ataxia in the mice led us to reexamine this candidate gene as a possible cause of SCA15.
cause
0.171875
very easy
3S4TINXCC0NZOA7TTWDH5QC4J37BOS
biomed
Human germline mutations in APC cause FAP [4,5], which is characterized by hundreds of adenomatous colorectal polyps, with an almost inevitable progression to colorectal cancer in the third and fourth decades of life.
cause
0.178571
very easy
3O0M2G5VC62CWOIECSKC0MB9EC4491
biomed
Null mutations in Bmpr1a cause early embryonic lethality, with defects in gastrulation similar to those seen in mice with mutations in Bmp4 (Mishina et al. 1995; Winnier et al. 1995).
cause
0.25
easy
3DW3BNF1GHIBCWIJRWFL9GGB7QJV8F
biomed
The underlying cause of the preimplantation lethality in Capn2-/- embryos has not yet been clarified.
cause
0.289474
easy
371QPA24C2OEO4U9NG6RTO5IW0VT1D
biomed
One explanation of why the Dhcr24-/- mice are developmentally normal but Dhcr7-/- mice are affected may be because desmosterol can functionally substitute for cholesterol, whereas the other cholesterol precursors can not.
explanation
0.027778
very easy
3D1UCPY6GG9R0NG07M9FQLOSG6W831
biomed
At present, there is no obvious explanation for this result.
explanation
0.096154
very easy
3TZ0XG8CBUKDFP5GOVAPHYREGY098D
biomed
Another possible explanation is that any differences in NBEC from BC individuals compared to non-BC individuals resulted from development of BC, instead of being a hereditary cause of increased risk for cancer.
explanation
0.220588
easy
3OID399FXG7YXUSK8PLXDMRQUOQFDH
biomed
Quantities of stria vascularis isolated from these different mice were similar, since no significant differences were found in the numbers of 18S rRNA molecules (log(rRNA) = 9.46 ± 0.08, n = 17, pooled data).
numbers
0.027778
very easy
3S8A4GJRD33O8IZVYHINP2KK1VYV6Y
biomed
Such large numbers of nonsynonymous substitutions between orthologues is suggestive of adaptive selection.
numbers
0.202381
easy
33CLA8O0MIBSY4BPQQGHIB8U9OJFRN
biomed
In conclusion, the mammalian Pygo2 gene is required for normal branching morphogenesis of the ureteric bud, with mutants showing dilated tips and reduced numbers of tips.
numbers
0.211538
easy
36FFXPMST9O9FNAFTONDR1F2EGHOHQ
biomed
The long term retention of afferents in the cochlear apex in the absence of any apparent differentiation of hair cells raises hopes for cochlear implants in deaf-born children.
hair
0.027778
very easy
3PUV2Q8SV448KDG43NZ1UW05FP0DBX
biomed
Agouti protein has a short radius of action (Silvers and Russel 1955) and can be switched on and off during a single hair cycle (Bultman et al. 1992, 1994; Miller et al. 1993; Vrieling et al. 1994); thus, its regulated expression is thought to be responsible for the cream-colored or yellow ventral surface of mice carrying the black-and-tan (at) allele and for the yellow markings around the feet, ears, or head, i.e., tan points or head spots, of certain dog breeds.
hair
0.09375
very easy
3OYHVNTV5TY0HDBNZ9QA4TVU6XLKOQ
biomed
Our results indicate that the apparent uniformity of the dorsoventral boundary represents the sum of independent mechanisms that affect melanocyte density and/or differentiation, pigment-type synthesis, and hair length; surprisingly, none of these coincide with the somite–lateral plate lineage boundary.
hair
0.176471
very easy
378G7J1SJLY50MSFU96HNSVBP2JEW7
biomed
These observations suggest that the cochlear environment supports the survival of sensory hair cells in spite of the enlargement of the endolymphatic duct.
hair
0.2
easy
3YD0MU1NC21NKUA26WWJZT63BXA7A3
biomed
In trained hands, our measurement procedure is reliable, accurate and rapid enough to allow large scale genetic studies of factors determining IOP.
hands
0.05
very easy
3RIHDBQ1NEYLFKP3G880ZXQXJHVMH4
biomed
The initial experiments demonstrated that in our hands careful ocular cannulation has a very minor effect on IOP (average of -0.3 mmHg, mode -0.5 mmHg) and demonstrated significant differences in intraocular pressure levels between four mouse strains.
hands
0.205882
easy
3TLFH2L6Y9OLDPC56K65Y7FNO5BT2U
biomed
Dual color imaging of several GFP variant proteins is a very attractive prospect and has become a standard procedure in cell biology [7,8].
color
0.027778
very easy
34D9ZRXCYRU93SUUUZUUUK2ZYAPSAB
biomed
These were generated through the aggregation of diploid embryos with diploid embryos (or ES cells) of the complementary color.
color
0.166667
very easy
371QPA24C2OEO4U9NG6RTO5IW0V1TL
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).
color
0.234375
easy
372AGES0I459YQ2AQKM3OI81DTKXR1
biomed
Yet clear functions of RanBP2 in animal and cell physiology remain elusive.
animal
0.038462
very easy
3JY0Q5X05J67NEY6LZSN1SUZ8U8GGR
biomed
XY and KB performed the animal experiments.
animal
0.171875
very easy
3RSBJ6YZECQP1RJ9YYZDOG3PY14OFS
biomed
Adequate animal models are useful tools for the identification of genes involved in complex human diseases.
animal
0.180556
very easy
3P6ENY9P79WZJ1ZCVTA874JG27DIHK
biomed
In a forward genetic screen that used ethylnitrosourea (ENU) to induce mutations in a founder animal whose offspring were then screened for abnormal whole body metabolism [19,20], we found a family of mice that urinated and drank excessively.
animal
0.205882
easy
37MQ8Z1JQEWHUBBZGQT46O7237Z2YY
biomed
In the past decade, many studies applied this technique to study both RA and its animal models [15-22].
animal
0.25
easy
3KVQ0UJWPXL543ZMJ8DEJYPYC9P5W2
biomed
A genome database search revealed orthologs of ADAM11, ADAM22 and ADAM23 genes to exist in vertebrates such as mammals, fish, and amphibians, but not in invertebrates.
fish
0.05
very easy
301KG0KX9CLV8GLA6QPGKOCZDBM2HZ
biomed
However, vertebrate Dmrt gene function is not limited to sexual differentiation: Dmrt2 is required in both sexes for segmentation in mice and fish [33–35].
fish
0.216667
easy
3FHTJGYT8N0D0RR5OIIAV18R9LVGPV
biomed
Once Sry expression begins, expression patterns of other genes in the gonad begin to diverge.
patterns
0.05
very easy
37VHPF5VYC3FDNCJ0FKGJOSMMK18CT
biomed
Indeed, the patterns of protein expression seemed comparable and indistinguishable from wild-type embryos at all stages of lung development examined.
patterns
0.15
very easy
36818Z1KV3D5JB9F4KTTMCUN6VOA31
biomed
To determine if this is due to different methods in immunofluorescence staining or indeed different expression patterns in mouse and human, we repeated the immunofluorescence of human brain.
patterns
0.233333
easy
3BAKUKE49HC18PHHJR1WT9408E5R13
biomed
Many of the double transgenic mice showed similar circular patterns of swimming near the edge of the tank when tested in the Morris water maze.
patterns
0.235294
easy
324N5FAHSXBV7XKK0LCOZLP22QIVK3
biomed
Despite these similarities, the differential expression patterns of μ- and m-calpain in mammalian tissues suggest they have some isoform specific and distinct functions.
patterns
0.328125
easy
3ODOP6T3ASK1W4XFRJ5XQZ3V86U247
biomed
We also developed a congenic mouse strain bearing a portion of 129 Chromosome 1 on a C57BL/6 background and showed that this wild-type congenic line expressed striking anti-nuclear autoimmunity.
mouse
0.05
very easy
39XCQ6V3KY47AOKGSQ0AL4QLO7S65Y
biomed
Medium-chain acyl-CoA dehydrogenase (MCAD) (the mouse gene is Acadm, whereas the protein is MCAD), specifically, is responsible for catalyzing the dehydrogenation of medium-chain length (C6-C12) fatty acid thioesters [1].
mouse
0.075
very easy
3MD8CKRQZZN836XL9G72X90M2V5JRZ
biomed
Sam68 protein expression was observed throughout the developing mouse embryo, in keeping with previous reports that identified the Sam68 mRNA to be widely expressed [38].
mouse
0.140625
very easy
3ZUE82NE0A1MGZWTRHAHRUDPJWVF8B
biomed
It has been reported that the disruption of Adam23 gene in the mouse results in premature death associated with ataxia and tremor [23].
mouse
0.214286
easy
3YOAVL4CA0HR2F0RGQEBDAD2TFT4ZH
biomed
Because the mutation is not in BCKDH, the validity of this mutant mouse line for modeling human MSUD is questionable.
mouse
0.234375
easy
3IKDQS3DQE082TOW91W7WDM0PFECIB
biomed
Unpaired images represent prenatal time points and are labeled with the gene symbol of the gene in question ("wt" indicates that the retina is from a wild-type animal) and a designation of the embryonic day from which the retina derives (e.g., e17.5 = embryonic day 17.5).
images
0.05
very easy
3VIVIU06FKCLBF0NMQQLZ9RCJTCIMT
biomed
In the development of the mammalian retina, a diverse range of cell types is generated from a pool of multipotent retinal progenitor cells.
range
0.05
very easy
3NBFJK3IOHIVFRF49I5V6131ZHXGOE
biomed
Heterozygous mutations of the human PAX6 gene cause aniridia (absence of the iris) and a range of other congenital eye malformations [2].
range
0.220588
easy
311HQEI8RSGOL2IAIOCIGMXCKIHZ7W
biomed
Apcs−/− mice spontaneously produce a wide range of ANAs and develop significant immune complex glomerulonephritis (Bickerstaff et al. 1999).
range
0.288462
easy
3PN6H8C9R4Q313BCX9Z5ZLGZX7FADZ
biomed
The pathogenesis of the wide range of metabolic disturbances in MCAD deficiency is poorly understood and certain aspects of patient management are controversial.
range
0.291667
easy
3I7SHAD35MWOMVJR3ZMO8K135EZ7MN
biomed
It should also be stressed that Capn4-/- ES and MEF cells from the presumptive hypomorphic allele can be maintained in culture despite an apparent lack of calpain activity, as assessed by casein zymography or by the appearance of characteristic spectrin breakdown products.
products
0.15625
very easy
3TCFMTM8HEOK450W41MVS1WSWMQ12Z
biomed
In large part, this has been due to the lack of inhibitors capable of specifically down-regulating the calpains without affecting other proteases.
lack
0.05
very easy
3CVBMEMMXBG2UHIGC26BGFT7OR2H7O
biomed
The lack of clearance in both models of AD pathology comes as a stark contrast to the rapid removal of protein aggregates found in similar tet-off mouse models of Huntington [32] and prion disease [62].
lack
0.071429
very easy
37SOB9Z0SSXMFU0J1BIJVQAY06PL3U
biomed
Possibly, the lack of dopamine D2R-mediated signaling prevents refinement of the corticostriatal reinforcement circuits in the brains of the D2R-/- mice, thus impairing their ability to form S+/S- contingencies and disengage inappropriate dopamine D1R-mediated associative responding when unexpected consequences to goal-directed behaviors happened.
lack
0.180556
very easy
36BTXXLZ2V8I0OE069KYR7B3KYA4RO
biomed
The apparent reduction of paraxial mesoderm in Hdhex4/5/Hdhex4/5 embryos could explain the lack of headfolds since paraxial mesoderm is important for the full development of neuroectoderm, and consequently, headfolds.
lack
0.25
easy
3087LXLJ6MG4YARQWDX2YF770YK0FA
biomed
Thus, our observations provide unexpected starting-points in the search for huntingtin's precise molecular activities, which began with the discovery that this HEAT domain protein hosts the dominant polyglutamine property that is the fundamental basis of HD pathogenesis.
search
0.05
very easy
3JYPJ2TAYI87MRVADYCSDG8F86VFPV
biomed
For this study, an inducible, liver-specific Mtf1 knockout mouse line was generated to perform a search for MTF-1 target genes and cadmium-inducible genes in the adult liver.
search
0.083333
very easy
36BTXXLZ2V8I0OE069KYR7B3KZ8R4B
biomed
A previous target gene search for MTF-1 with mouse embryos of conventional Mtf1 knockout phenotype revealed, besides metallothionein genes, the multifunctional alpha-fetoprotein (Afp) and the liver-enriched transcription factor CCAAT/enhancer binding protein alpha (Cebpa) as prime candidates (65).
search
0.229167
easy
3ECKRY5B1QWLAMZ61FGF7BNLYYRZIQ
biomed
Thus, our observations provide unexpected starting-points in the search for huntingtin's precise molecular activities, which began with the discovery that this HEAT domain protein hosts the dominant polyglutamine property that is the fundamental basis of HD pathogenesis.
search
0.525
neutral
3UYRNV2KITZY4R9AP5TUZZMYLNH8NB
biomed
m-calpain was implicated in the acrosome reaction [47] which correlated with a translocation of m-calpain to the cortical membrane in oocytes where it might participate in the release of cortical granule contents required to prevent polyspermy [45].
release
0.3
easy
3XEDXEGFX3OFEWJ4XOOZESZC8U5K00
biomed
The manuscript was prepared jointly by STC and IMH, who have both read and approved the final version.
read
0.05
very easy
3BO3NEOQM0HK9ERYPN0GQIWCPCSIAE
biomed
DT provided the sections the human autopsy brain, analyzed them by immunofluorescence, and contributed to the analysis of data.
brain
0.05
very easy
3ZTE0JGGCESIYFZZ7W9CGAIM1ODCO6
biomed
The roles of PAX6 in brain development have mainly been studied in homozygous mutant mice or rats and include arealisation of the cerebral cortex [7], formation of the prosencephalon-mesencephalon boundary [8], axon guidance [8], differentiation of neurons from glia [9] and neuronal migration in the cerebellum [10].
brain
0.196429
very easy
3VP28W7DUNK10VXG07AU4EATI60FZG
biomed
Plasma and all tissues, apart from the brain, have significantly elevated sitosterol levels.
brain
0.225
easy
3GKAWYFRAPTAO7HEMSH2PG5UWTKDPN
biomed
Both Annexin A7 isoforms described in brain tissue seemingly are expressed by neurons and astrocytes, which was shown using total cell extracts of cultured neuo-2a, PC-12, and C6 cells.
brain
0.25
easy
3I7KR83SNADXAQ7HXK7S7305BZS9KW
biomed
While this approach is promising, constant exposure to antibodies that recognize an epitope highly enriched in the brain may have unexpected side effects that will limit its long-term use.
brain
0.296875
easy
3P0I4CQYVY7RCD54ON9DS4PPT4OWOS
biomed
In contrast, no mortality was noted in adult MCAD-/- mice unless challenged with cold stress and fasting.
stress
0.05
very easy
3QHITW7OYO9XQCFH2V5PZKNYGM4QAK
biomed
The present study confirms and extends the role of MTF-1 as an important stress response regulator.
stress
0.196429
very easy
39AYGO6AFFKB0DQMWQWWFLQ7FSR6NN
biomed
One type of stress response is triggered by heavy metals, such as zinc, copper and cadmium (for convenience, the terms zinc, copper and cadmium are also used here to denote Zn2+, Cu2+ and Cd2+, respectively).
stress
0.222222
easy
3M67TQBQQHORYDYVLTU3DPX96M0A9I
biomed
Alterations in the cytosolic pH in conjunction with free radical stress may lead to the loss of KCNJ10 protein expression in strial intermediate cells.
stress
0.222222
easy
3WPCIUYH1A88GZAL39QMUQ6RLXYDTN
biomed
We have identified and preliminarily characterized four target genes of MTF-1 in the adult mouse liver: in the case of Sepw1, MTF-1 is required to maintain basal expression, supporting a role of mouse MTF-1 in oxidative stress response.
stress
0.294118
easy
335VBRURDJ0UOQF71YWP98N0R1Y9EC
biomed
BMP2 and BMP7 are thus secondary signals produced in response to SHH activity.
activity
0.05
very easy
3CRWSLD91K4V71BQKL3QJ6NYV2GOMZ
biomed
Because synapsis occurs in TRIP13-deficient spermatocytes and is dependent on DSB formation (activity of SPO11 and MEI1), we suggest that TRIP13 functions after homology recognition and strand exchange, and that recombination events entering the CO repair pathway are either completed or nearly so (because OA treated resulted in bivalent chromosomes).
activity
0.140625
very easy
3R15W654VDTEMV6LZMUF8Y39AY8LQ2
biomed
However, again we were unable to generate ES cells or mice exhibiting robust widespread reporter activity (A.-K.H. and V.E. Papaioannou, unpublished observations).
activity
0.176471
very easy
3BPP3MA3TCKPPSGGQVZFEHEVRVFELE
biomed
Previous studies have shown that the alpha-crystallin possesses molecular chaperone activity, binding to partially denatured proteins, both in vitro [5] and probably in vivo [6], to inhibit further denaturation.
activity
0.235294
easy
35O6H0UNLSGJYJZNC9UZU8VQADGJ5L
biomed
Initial studies targeted Capn4 based on the prediction that loss of this calpain subunit would abolish activity of both μ- and m-calpain.
activity
0.45
neutral
32L724R85LKRWIX0E6IDGDL7OYNPIW
biomed
The activity of BCKDH in livers of homozygous knockout mouse pups was undetectable, accounting for the accumulation of unmetabolized BCAA.
livers
0.05
very easy
3LCXHSGDLT6CT5B6A4WGQ3SQJPTESY
biomed
The comparison of gene expression in livers of mock- or cadmium-treated Mtf1Mx-cre and Mtf1loxP mice revealed several MTF-1 target gene candidates.
livers
0.323529
easy
35JDMRECC499302FF42Z1P9NVETEG8
biomed
Many of the double transgenic mice showed similar circular patterns of swimming near the edge of the tank when tested in the Morris water maze.
swimming
0.05
very easy
3FCO4VKOZ4DQA7REM1Y5VCWUWC87EY
biomed
In kidneys taken from mutant animals, however, AQP2 was distributed randomly throughout the cell in the basal state (Figure 4A, third row), while AQP3 (green) appropriately localized to the basolateral surface [23].
kidneys
0.05
very easy
3PR3LXCWSFZ3UQ6OW3MHXX877879XL
biomed
A total of 200 female mice (ten months of age) of the N2 backcross between NFR/N and C57BL/B10.
total
0.05
very easy
3B286OTISEHG4PB475LG2JBC2RCJAM
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.
start
0.142857
very easy
34R0BODSP1ZBN3DVY8J8XSIY55KE5V
biomed
Second, we cannot rule out the existence of an alternate start site for ITPR1 that may result in a product that confers a pathogenic gain of function to the protein; however, Western blot analysis of cells derived from affected AUS1 family members, which was performed using an antibody raised against the C-terminal portion of ITPR1, failed to identify any disease-specific truncated protein products.
start
0.15625
very easy
31YWE12TE0CZG7IVH6OXJ1H1CIIX7W
biomed
In the case of Csrp1, expression analyses and DNA-binding studies indicate that MTF-1 is required for cadmium induction by binding to an MRE upstream of the transcription start.
start
0.282609
easy
3KTZHH2ONIFSM9OAD4EUMKXYGX88MC
biomed
Here we report the generation of additional mutant Xpd alleles that fail to support viability on their own but nevertheless ameliorate TTD-associated premature segmental ageing, cutaneous features, cellular DNA repair capacity, and UV survival when present in a compound heterozygote state.
survival
0.055556
very easy
3S8APUMBJXJ5IXU0UTURIW3QR3EFBA
biomed
One striking observation of this study is that precocious induction of ETS signaling promotes neuronal survival without a requirement for neurotrophic support and in complete absence of Trk receptor expression.
survival
0.125
very easy
3S37Y8CWI80N8KVM53U4E6JKCENW4J
biomed
Clearly this would have survival value since DNA repair gene up-regulation in response to E2F1 provides additional DNA repair when the DNA is replicating and is particularly vulnerable to damage.
survival
0.134615
very easy
3CO05SML7V5110WZN8XWF4LQ3MUR0V
biomed
The presence of some mature glycosylated proteins (35-45 kDa) in Aqp2F204V/F204V mice presumably permits their survival compared to Aqp2T126M/T126M mice, and is consistent with a diminished response to dDAVP.
survival
0.15
very easy