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5 values
38LRF35D5LWPYKNDAPAKMD6HDXHU3W
biomed
All of these findings raise many questions as to the possible role(s) of alpha-crystallin in the nucleus and in cell cycle regulation during differentiation.
cycle
0.234375
easy
37VE3DA4YUHPWTL6PJIRLHF37HTHBA
biomed
The onset of some transcriptional programs in neurons, however, has also been shown to occur long after neurons exit the cell cycle.
cycle
0.25
easy
3EHVO81VN5LOJV3ENMP2F52UL581HH
biomed
But whether the orderly expression and activity of transcriptional programs at much later developmental stages, well after cell cycle exit, is an essential step in the progression of neuronal differentiation and circuit assembly has yet to be resolved.
cycle
0.25
easy
3VQTAXTYN3LU1FRQPIPQ4W4T1PVBU5
biomed
Altogether, our data demonstrate that loss of p150CAF-1 function in ES cells and early embryos alters first the organization of heterochromatin in the nucleus and, in a subsequent step, cell cycle and viability.
cycle
0.333333
easy
38XPGNCKHT0ATVVHFTP8S40654NV48
biomed
Exposure of cultured cells to cadmium causes a decrease in, and destruction of, cellular contact proteins and the actin cytoskeleton (59).
destruction
0.2
easy
3X2LT8FDHWIORLIOH6KHVIZPEZQW8V
biomed
Red blood cells which lack the ability to vesiculate cause a disease with red blood cell destruction and haemoglobinuria [21].
destruction
0.203125
easy
3TD33TP5DL2AM6DSJD8Z4VSZUM8BAY
biomed
A better understanding of the molecular mechanisms that create and maintain articular cartilage is crucial for discovering the causes of joint disorders and providing useful medical treatments.
causes
0.316667
easy
3KLL7H3EGD1457JCU09RMT9AAA7HVG
biomed
In summary, our findings demonstrate the impact of epistatic interactions between 129 and C57BL/6 genomes on the development of SLE and illustrate how these background gene effects may lead to incorrect interpretations when analysing the autoimmune phenotype of specific genetic disruptions.
disruptions
0.2
easy
34YWR3PJ28ALYWIBW73O4M7E43EX0W
biomed
However, membrane organelle disruptions precede subunit c accumulation in homozygous CbCln3Δex7/8 cells, since they are observed without aging at confluency.
disruptions
0.321429
easy
3U18MJKL1UM0GUZN6H9Z1LIHBE7NC1
biomed
It is widely accepted that the cerebellum is involved in the performance of the rotating rod task, since mice with structural abnormalities in the cerebellum [31] or with disruptions in genes enriched in the cerebellum [32] exhibit performance deficits in this task.
disruptions
0.4375
neutral
3PEG1BH7AERGYJMEV4LOY9VVZZUKBG
biomed
In contrast, radial columns of elongated fiber cells of uniform size and shape containing ball and socket interdigitations were observed in the posterior subcapsular region in 5 wk (Figure 4I), 46 wk (Figure 4L) and 72 wk (data not shown) wild type lenses, and fiber cells in contact with the posterior capsule could be traced back to the equatorial bow region and anterior epithelium.
contact
0.234375
easy
35XW21VSVGEQZBLYRQJK3YIASMTLSR
biomed
At sites of cell-cell contact, however, E-cadherin-β-catenin complexes recruit α-catenin, which in turn coordinates the associated actin polymerization dynamics necessary to stabilize nascent AJs and integrate the cytoskeleton across an epithelial sheet [6,7,8].
contact
0.235294
easy
37ZQELHEQ0YDPGBEJ63D4HNT5SBMNI
biomed
Exposure of cultured cells to cadmium causes a decrease in, and destruction of, cellular contact proteins and the actin cytoskeleton (59).
contact
0.305556
easy
3EQPA8A374WH5XJCJX1FJC2LBCIZJ2
biomed
When sensory axons contact developing myotubes, they induce muscle spindle differentiation, forming ring-like spiral nerve endings around them.
contact
0.3625
easy
3I7SHAD35MWOMVJR3ZMO8K135D77MT
biomed
The smaller response to dDAVP indicates some residual activity of the mutant AQP2 channel, which must be sufficient to allow survival of the individual, in contrast to the T126M knock-in mouse [18].
individual
0.2
easy
379OL9DBSSESUVWY1Z8JGBFG9D8Y9L
biomed
By using positional cloning procedures or by screening for genes induced by exposure to LXR agonists, two groups identified not one but two genes, ABCG5 and ABCG8, which encode the proteins sterolin-1 and sterolin-2, mutations of which cause sitosterolemia [14-16].
procedures
0.303571
easy
3O71U79SRBPA5T3JR2KZ3BXZSREMSP
biomed
It could be argued that although the biliary sterol output is comparable to that seen in wild-type mice that this is inappropriately low, since the tissue and plasma pools of sitosterol are so elevated in the knockout mice.
output
0.2
easy
3PUV2Q8SV448KDG43NZ1UW05FP0BDV
biomed
In their studies, although diosgenin-fed mice showed a marked increase in biliary cholesterol output, mRNA levels of Abcg5 and Abcg8 were not altered.
output
0.357143
easy
3ZUE82NE0A1MGZWTRHAHRUDPJXT8F4
biomed
The Bochdalek or posterolateral hernias (often referred to as congenital diaphragmatic hernia [CDH]) occur in 1/3,000 live births [1], and although these are the most common type of diaphragmatic defect presenting at birth, diaphragmatic aplasia and diaphragmatic muscularization defects (eventrations) may have a similar clinical presentation.
presentation
0.235294
easy
3V7ICJJAZAGVKHXBACY8RS6Z2C7B4I
biomed
Raising intracellular Ca2+ led to relocation of these annexins to the nuclear membrane.
Raising
0.2
easy
3UY4PIS8QRLGTRPPQKKFKPZQ7HB1NK
biomed
To avoid such deleterious outcomes, surveillance systems ("checkpoints") exist to sense meiotic errors and eliminate cells containing unresolved defects.
checkpoints
0.2
easy
3HFWPF5AK9J9J7V9LKFK7COTS02S3K
biomed
In alphaA/BKO lenses the embryonic/fetal nucleus (primary lens fibers) had migrated posteriorly and appeared to be in contact with the posterior capsule.
fibers
0.2
easy
30U1YOGZGAW71ZX6E9LWKLA5JDMDSY
biomed
The resulting double-homozygous mutant embryos showed a context-dependent reduction in canonical Wnt signaling as measured by Wnt reporter transgene expression.
reporter
0.2
easy
38EHZ67RIMS7FOUSW2QIEXEW4GKGMZ
biomed
Secondly we investigated reporter co-visualization in balanced adult chimeras comprised of both ECFP+ and EYFP+ compartments.
reporter
0.277778
easy
3ZUE82NE0A1MGZWTRHAHRUDPJW1F8H
biomed
However expression of the RFP reporter could not be detected in any organ of adult mice nor in embryos (data not shown).
reporter
0.28125
easy
3MIVREZQVHY32PO3EMIETYQULYYQKZ
biomed
This suggests that the DsRed1 RFP reporter was unable to recapitulate the expression profile of the promoter/enhancer combination employed.
reporter
0.388889
easy
3JTPR5MTZSCE9355UUUBVNV3P395K1
biomed
Furthermore, Amantana et al. (49) showed that expression of a reporter gene fused to a rat Sepw1 promoter fragment can be induced in rat glial cells by copper and zinc, but not cadmium.
reporter
0.45
neutral
3XDSWAMB22SLJRCFM91G5FDMGPPCQ8
biomed
Furthermore, with the growing amount of large-scale proteomic and genomic data becoming publicly available, this analysis can now be extended to reveal the complex interplay between evolution of gene structure and protein function.
evolution
0.202381
easy
3K3G488TR280K6307ZE8R97CO915QT
biomed
Although two additional new candidate TACC family members, Oryctolagus cuniculus TACC4 [9] and human RHAMM [10] have been proposed, their true identity and placement in the evolution of the TACC family is under debate.
evolution
0.222222
easy
33EEIIWHK77HI0IFDQWLV71B1WAVQV
biomed
In accordance with the proposed quadruplication of the vertebrate genome during evolution, there is a fourth FGFR family member in vertebrates, raising the question of whether a fourth TACC gene is associated with FGFR4 in vertebrate genomes.
evolution
0.230769
easy
307FVKVSYRF8I5ULXVMSMQK3JMM47V
biomed
The phenotypical features of FAP and its variant, Gardner's syndrome, can be very variable.
syndrome
0.203125
easy
3MZ3TAMYTLNC8VDFRYM2L8LMPGBIRH
biomed
ATR-X syndrome is a severe, nonprogressive form of X-linked mental retardation that is frequently associated with multiple congenital abnormalities [1].
syndrome
0.220588
easy
30OITAWPBQ368069RZ4VUBKDJHW9HY
biomed
Previously, we generated a TTD mouse model (XPDR722W) that phenocopies the human syndrome [15,21].
syndrome
0.296875
easy
33TGB4G0LPHME5F2U9RYOX9J1EHTXA
biomed
Examples of such very successful and useful modeling efforts are provided by HIV protease [11], or very recently by the peptidase from a coronavirus involved in the severe acute respiratory syndrome [12], among others.
syndrome
0.326087
easy
3XEIP58NL0NN0N7CMIDSZRFDF2LZL4
biomed
In this study, we described a large, densely mapped, segregating F2 mouse population designed to study the genetic regulation of several traits associated with the so-called metabolic syndrome.
syndrome
0.366667
easy
38Z7YZ2SB32CWUYFEJX2GIBHTUEQIT
biomed
One further point worthy of note is the striking similarity between the hybrid photoreceptor identified in this study and a naturally occurring photoreceptor found in ground squirrels.
ground
0.409091
neutral
3N3WJQXELSQXUC40XB4ECG56USP2L0
biomed
This is reflected by a reduction of the Vmax of HKI without significantly affecting the Km of the active site of HKI toward glucose (Figure 2A and 2B).
reduction
0.203125
easy
3M0556243SK7J6JXXJZ09R3K8SSNF7
biomed
Conversely, beads soaked with neurotrophin function-blocking antibodies led to reduction of sensory and motor axon growth towards the limb.
reduction
0.205882
easy
37SOB9Z0SSXMFU0J1BIJVQAY06V3LI
biomed
ETF reduction assays of liver homogenates were performed to characterize the MCAD−/− mice at the enzymatic level.
reduction
0.25
easy
3EHIMLB7F7Z6UVNZM7YHUFP2ZC6H8B
biomed
Since Sertoli cells produce FGF9, loss of proliferation of Sertoli precursors may result in a reduction of the overall level of FGF9, and/or other male paracrine signals, below a critical threshold level required to antagonize the influence of WNT4.
reduction
0.3
easy
3RWO3EJELH9GWC126ZX7OE4L7XAP14
biomed
Taken together with the immunoblotting data for full-length APPswe/ind, the ELISA measurements indicate that dox-mediated suppression of transgenic APPswe/ind synthesis leads to parallel reduction of Aβ levels.
reduction
0.338235
easy
3JHB4BPSFK9JLT5CAPRP3PCEA4S9QU
biomed
Mutations in retinal specific genes, such as Crx, have been associated with LCA [14,15], as well as GUCY2D [18], RPE65 [19], AIPL-1 [20], CRB-1 [21], and RPGRIP-1 [22].
genes
0.203125
easy
360ZO6N6J1JS0E7KIWK8MGS903PM9E
biomed
We sequenced candidate hg modifier genes to complement the characterization of the speed congenics on MMU2, 9, 11 and 17.
genes
0.214286
easy
32LAQ1JNT9PUX1L7P4GB4QAF7WVTUD
biomed
Therefore, these sequence data can be used to guide the development of gene expression assays to confirm differential expression for candidates and suggests that genes identified by downstream experiments should also be sequenced.
genes
0.25
easy
31YWE12TE0CZG7IVH6OXJ1H1CHQX72
biomed
Analysis of the mechanisms by which transcription factor programs can be shifted over time to control different complements of downstream genes and thus different aspects of neuronal and cellular fates in progenitor cells or post-mitotic neurons may provide further insight into the way in which transcription factors act to control the assembly of neuronal circuits.
genes
0.328125
easy
3VADEH0UHCXGQW0WJICRKFRUXWUPST
biomed
During disease development, genes involved in the disease are likely to be differentially regulated.
genes
0.375
easy
3VMHWJRYHVGCV0X1ZPM97TUIA59FXO
biomed
It is becoming increasingly clear that many forms of glaucoma have a genetic component [6,7], and much current research is focused on identifying chromosomal regions and genes that contribute to glaucoma [8-10].
research
0.25
easy
3Q7TKIAPOTAKXM2GU0OV8ZWARJELDS
biomed
CF assisted with production of the mouse models, data collection, analysis, and interpretation.
production
0.222222
easy
3CESM1J3EI31N7Z0ORNJB43Y85TW64
biomed
Instead, our results reveal that huntingtin is required for normal anterior streak formation and the consequent production of paraxial mesoderm, with a previously unrecognized role for huntingtin in the proper extinction of transiently and/or dynamically expressed genes.
production
0.279412
easy
39KV3A5D187RKQWWNWIAKT09X3H7SZ
biomed
We detected co-expression of PAX6, HOMER3, DNCL1 and TRIM11 by RT-PCR in human adult brain RNA (IH, L Harrison and A Brown, data not shown).
Brown
0.203125
easy
34YWR3PJ28ALYWIBW73O4M7E44CX0W
biomed
This strategy was based upon previous structure/function studies showing that excision of the C-terminal 25 amino acid residues of the small subunit abolished calpain activity when co-expressed with the m-calpain large subunit in E. coli [34].
acid
0.203125
easy
385MDVINFCFDB2E78AH8K883UAKWJF
biomed
The μ-80 k and m-80 k subunits share 62% amino acid sequence identity, and are very similar in terms of structure, protein chemistry, and in vitro substrate specificity.
acid
0.232143
easy
3R6RZGK0XFCQR29140DF8T4D05RYV1
biomed
Indeed, the relative contribution of increased triglyceride synthesis rates to the steatotic phenotype cannot be fully discerned from our data, given that this response could reflect the direct effects of PGC-1α deficiency on target genes or a secondary compensatory response to hepatocyte fatty acid accumulation.
acid
0.234375
easy
3RTFSSG7T86J6S27BVTL0NLVYZKLW1
biomed
They are characterized by a bipartite structure with a conserved C-terminal core domain and a unique N-terminal domain that varies in length and amino acid composition.
acid
0.380952
easy
3YLPJ8OXX8D2XK0CF8QQGPXRLFV4XK
biomed
Mucolipidosis type IV (MLIV; MIM 252650) is an autosomal recessive lysosomal storage disorder that is characterized by corneal clouding, delayed psychomotor development, and mental retardation that usually presents during the first year of life [1].
year
0.234375
easy
3N7PQ0KLI5P89OQRKPVFIVKER9OE30
biomed
Genetic experiments in S. cerevisiae have identified elements of the pachytene checkpoint machinery (reviewed in [5]).
machinery
0.205882
easy
3DFYDSXB2W00JYP2DA272KN69U4JUY
biomed
The zebrafish is an excellent model system to elucidate the molecular machinery controlling gene expression during hematopoiesis (Thisse and Zon 2002; Galloway and Zon 2003).
machinery
0.321429
easy
33W1NHWFYHLBJ0FHVRFJLIPU9EFTZ7
biomed
Third, studies in primary cardiac myocytes in culture and in the hearts of transgenic mice have demonstrated that overexpression of PGC-1α promotes mitochondrial biogenesis [10,16].
Third
0.205882
easy
33K3E8REWWV3GLNERBG3X1DWN1WX8P
biomed
Third, the growth of heart and soleus muscle, tissues with high reliance on mitochondrial energy production, is blunted.
Third
0.235294
easy
3D06DR5225J65XHPA2Y8IB3T6M5AMH
biomed
Absorption of dietary cholesterol from the intestine is an important part of cholesterol homeostasis and represents the initial step that allows dietary cholesterol to exert its metabolic effects.
Absorption
0.205882
easy
3SU800BH86SH5LTF80MGZLZSNQTUQZ
biomed
In contrast, radial columns of elongated fiber cells of uniform size and shape containing ball and socket interdigitations were observed in the posterior subcapsular region in 5 wk (Figure 4I), 46 wk (Figure 4L) and 72 wk (data not shown) wild type lenses, and fiber cells in contact with the posterior capsule could be traced back to the equatorial bow region and anterior epithelium.
ball
0.205882
easy
3EN4YVUOUCSS02JXIFDUMRMA3CLJXQ
biomed
Brown fat is predominantly responsible for thermogenesis and normally expresses high levels of Acadm mRNA.
fat
0.205882
easy
3SD15I2WD2U4W9XCE7CH67S1AB563C
biomed
Third, we found evidence for an age-related increase in body fat in PGC-1α−/− mice (females earlier than males), whereas Lin et al. identified a male-specific resistance to diet-induced obesity and insulin resistance.
fat
0.223684
easy
3JGHED38EDROGC85M2AZ2FOAENKY79
biomed
Aging has long been associated with an increase in marrow fat, where the generation of adipocytes is favored over osteoblasts [23].
fat
0.25
easy
3FO95NVK5C0129GBWAGGPAR9YFASRI
biomed
As the annexins belong to a wide spread and evolutionarily conserved protein family, redundant, but not identical functions are expected.
spread
0.205882
easy
3V0TR1NRVA2Q17SJ4YYCWHMTKUMA4M
biomed
Analysis of the mechanisms by which transcription factor programs can be shifted over time to control different complements of downstream genes and thus different aspects of neuronal and cellular fates in progenitor cells or post-mitotic neurons may provide further insight into the way in which transcription factors act to control the assembly of neuronal circuits.
Analysis
0.205882
easy
38XPGNCKHT0ATVVHFTP8S40655L4VH
biomed
Analysis of huntingtin deficient Hdhex4/5/Hdhex4/5 embryos reveals that homozygous inactivation of the mouse HD gene does not overtly affect development until E7.0.
Analysis
0.308824
easy
3M7OI89LVYOS99TV70NIZAWVGODC6B
biomed
Only in situations with severe physical injury, distinct environmental influences or additional platelet attributes like the platelet antigen polymorphism [53] differences might become apparent.
injury
0.205882
easy
3CIS7GGG65JS8I3AZ9RG54AE4M8EU8
biomed
Indirect support for this idea is provided by the observation that Fabp7 is up-regulated by microarray analysis in Nrl and Crx mutant retinas as well (unpublished data), suggesting that this change may represent a generalized response to injury in the retina rather than derepression of a cone-enriched gene.
injury
0.3125
easy
3B623HUYJ4QVK41FX1AGYTW48MP8SN
biomed
These mapping studies have shown that the disease expression in relation to the inheritance of the different alleles followed a threshold liability pattern in which a positive phenotype depended upon the presence of multiple discrete susceptibility loci with no single locus being a prerequisite factor.
relation
0.205882
easy
38O9DZ0A62NFBR1TA7YCNXN94X062W
biomed
During skeletal aging, there is a shift in the balance that favors osteoclast over osteoblast activity, which results in net bone loss [3].
shift
0.205882
easy
3QMELQS6Y5BWFBIEPXDDO5VHGPM6RH
biomed
The retinoblastoma protein (Rb) is critical for cell cycle exit during retinal transition cell birth.
birth
0.205882
easy
3511RHPADVEEYWLLC1JFDODE6L3RL4
biomed
Especially, nerves which control the breathing would be very important, because the respiration system undergoes significant maturation in the first 2–3 weeks after birth.
birth
0.205882
easy
3KTZHH2ONIFSM9OAD4EUMKXYGX78MB
biomed
Interestingly, AVPR2-deficient male pups also die within the first week after birth.
birth
0.216667
easy
3S37Y8CWI80N8KVM53U4E6JKCDV4WX
biomed
As these patients commonly present with severe respiratory failure at birth, therapy has been centered around developing better methods to provide ventilatory support while not producing further lung injury.
birth
0.285714
easy
31J7RYECZLQQ5RM4E7407XV12MGL17
biomed
With the normal time of eye opening at approximately 14 days after birth, the 5 wk old mice had their eyes open and lenses exposed to light for only about 3 weeks prior to morphological analysis.
birth
0.3
easy
3PZDSVZ3J5HXLQM8D23HIN6TJ2IN4I
biomed
The experimental conditions used for real-time PCR can be found in Additional data file 2.
file
0.206522
easy
3HEM8MA6H9C4DGLJRENMPFCTF84PQZ
biomed
A list of the primers used to confirm the expression of olfactory receptor genes by RT-PCR and PCR from cDNA library templates can be found in Additional data file 1.
file
0.216667
easy
3ZURAPD288N45ZC8SW12CKQH5QP1FD
biomed
Single strains on an HG background were created for each chromosomal region outside of MMU2, while a comprehensive panel of overlapping strains with identical donor regions on both B6 and HG backgrounds were developed for MMU2.
panel
0.208333
easy
391FPZIE4CM4SSUCPAZMQ77RW2ZUH3
biomed
The aggregated components of the chimera from which each organ originated is schematized in the top right of each panel in Fig. 4.
panel
0.235294
easy
3LVTFB9DE5IY03SKOVXZV6Y1EHMGQR
biomed
Several studies of this CSS panel, B6 Chr1-19, X, YA/J, have been reported for behavior [12], weight gain [13], sterols [13], and plasma amino acids levels [13,14], and have identified many more QTL than studies of the same traits using a genome-wide scan.
panel
0.328125
easy
34YWR3PJ28ALYWIBW73O4M7E43L0X6
biomed
Around P6, the outer plexiform layer becomes visible and the outer layer of retina separates into two layers, ONL and INL.
layers
0.208333
easy
3B623HUYJ4QVK41FX1AGYTW48MPS87
biomed
Subsequent exchanges between the placode and nascent dermal papilla result in further growth of the follicle into the underlying dermis, or down-growth, and eventual differentiation into the six concentric layers of the mature follicle.
layers
0.25
easy
3E9VAUV7BWE6ZE63T5MJC6Q0FWIYAU
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.
maze
0.208333
easy
3Z3R5YC0P3N5EJOHUFLCIQ9CX9LFT5
biomed
Although such “mosaic” expression is usually undesired, here we took advantage of it by ablating GluR-B via gene-targeted, floxed GluR-B alleles with the help of a transgenic mouse line with variegated Cre expression in forebrain.
help
0.234375
easy
33Q5P9PUSPMUXJD695KTW8PQLT8CZ2
biomed
New lines of transgenic mice were developed for this study that express high levels of APPswe/ind under the control of a tetracycline-responsive promoter.
New
0.25
easy
363A7XIFV4MPVKBYOUZZ57M6XEJAVY
biomed
Microarray-based global gene expression is a powerful technique for investigating complex diseases.
technique
0.210526
easy
30ZKOOGW2W6998V0HGFAYJFQ8BB1A1
biomed
We then screened a brain library with this peptide using the yeast two-hybrid technique and identified three novel interacting proteins, HOMER3, DNCL1 and TRIM11.
technique
0.397059
easy
3BVS8WK9Q0VPSOWQV10CLTGI7U8BIX
biomed
The use of mouse models has provided valuable insight into the etiology of monogenic syndromes caused by single gene mutations.
insight
0.210526
easy
35NNO802AVWRTXLNYR5LCOGCOJRINY
biomed
To gain further insight into the mechanisms of this disease, we developed a mouse model of MCAD deficiency by gene targeting in embryonic stem (ES) cells (for reviews [13,14]).
insight
0.302632
easy
33IXYHIZB5IJO6U8GPHAZLFMLWME2P
biomed
Mice with or without intact dopamine D2R-mediated signaling displayed similar decreases in latencies to retrieve unhidden food pellets (Fig. 1) and learned to dig for food buried in unscented sand (Fig. 2).
sand
0.210526
easy
3Z8UJEJOCZDRESZACEFTQHJ30D693L
biomed
To this effect, the RanBP2 mouse model will serve as a unique genetic tool to probe selective, multiple and novel pathways, which may have not been anticipated to be linked to metabolic processes and allied pathophysiological states.
processes
0.2125
easy
3KG2UQJ0MJO4AV96BZAULQ7YFU1QN4
biomed
Suppression of the KCNJ10 K+ channel in strial intermediate cells, which is essential for the generation of the endocochlear potential, is probably the direct cause of deafness in Slc26a4-/- mice and patients suffering from Pendred syndrome.
deafness
0.2125
easy
3UL5XDRDNCJUE234L5X85IMCU2H85L
biomed
These observations suggest that a primary event leading to deafness in Slc26a4-/- mice, and potentially in patients suffering from Pendred syndrome, is the loss of the endocochlear potential.
deafness
0.381579
easy
3GL25Y6843UI1APILCQM2JER76LXMD
biomed
The SNP data showed a deletion of between 188 kb and 210 kb in size; examination of SNPs at the flanking unknown regions of this deletion allowed us to delimit the borders of the deletion to 7.5 kb on the telomeric side of the deletion (between rs12634249 and rs793396) and ~14.4 kb on the centromeric side of the deletion (between rs4073665 and rs17709863).
examination
0.2125
easy
3DIIW4IV8PV57PBHGMQPDFACX2X4IQ
biomed
Our present results suggest that although many of the observed phenotypes seen in Alk5/Wnt1-Cre mutants superficially resemble those seen in VCF/DGS, a detailed examination shows that the NC-specific abrogation of Alk5 does not lead to VCF/DGS-like phenotypes.
examination
0.21875
easy
3VCK0Q0PO5EGM247U1GF6KGG2PB0NM
biomed
However, downstream targets of mr-s still remain unclear.
targets
0.214286
easy
3H5TOKO3D9JPE5GGELH0GCK7OB164X
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].
targets
0.25
easy
3ATYLI1PRT256T55HOQY3EVHR8LJOQ
biomed
Thus, this effect may not be limited to the Shh pathway and other targets may be more important.
targets
0.265625
easy
3QE4DGPGBRBRBY5MQYQMS3XWIPZG44
biomed
Lastly, the information and knowledge gained from studies with the MSUD models described here will also be applicable and transferable to other mitochondrial disorders due to defects in multisubunit enzymes.
knowledge
0.222222
easy