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1  is caused by mutations in the gene encoding bestrophin.
2                           Here, we show that bestrophin 1 (BEST1) but not LRRC8A is crucial for volum
3                                 Mutations in bestrophin 1 (BEST1) cause certain eye diseases.
4                                 Mutations in bestrophin 1 (BEST1) cause macular degenerative disorder
5  higher expression in the periphery included bestrophin 1 (BEST1), transcription factor RNA binding m
6                       Mutations in the human bestrophin 1 (hBest1) chloride channel cause Best vitell
7                                        Human Bestrophin 1 (hBest1) is a calcium-activated chloride ch
8 n isolates with antibodies specific to human bestrophin 1 (hBest1) showed that hBest1 protein was exp
9 aob) and abnormally release GABA through the bestrophin 1 channel.
10                             Mutations in the bestrophin-1 (Best1) gene are linked to several kinds of
11                 Mutations in BEST1, encoding bestrophin-1 (Best1), cause Best vitelliform macular dys
12                                        Human bestrophin-1 (hBest1) is a calcium-activated chloride ch
13  in the founding member of the family, human bestrophin-1 (hBest1), are responsible for a form of ear
14 ction in the Cl(-) channel function of human bestrophin-1 (hBest1), but some patients with BVMD who h
15 y mutations in a chloride ion channel, human bestrophin-1 (hBest1).
16                           Mutations in human bestrophin-1 (VMD2) are genetically linked to a juvenile
17                                 Mutations in bestrophin-1 are increasingly recognized as an important
18 not impair the formation of active wild-type bestrophin-1 channels, consistent with the recessive nat
19  Best disease, cotransfection with wild-type bestrophin-1 did not impair the formation of active wild
20 L140V and p.D228N) caused mislocalization of bestrophin-1 from the basolateral membrane to the cytopl
21  observed in vivo and, thus, implies loss of bestrophin-1 function in cmr1-dogs and Y(29)X-affected p
22                                              Bestrophin-1 gene (BEST1) mutations are responsible for
23 We propose that ARB is the null phenotype of bestrophin-1 in humans.
24                                              Bestrophin-1 is preferentially expressed at the basolate
25                        One potential role of Bestrophin-1 is to trigger an increase in the standing p
26 ruct that would express neurogenin1 from RPE bestrophin-1 promoter or neurogenin3 from RPE65 promoter
27                The physiological function of bestrophin-1 remains poorly understood although its hete
28 ch-clamping of HEK293 cells transfected with bestrophin-1 to measure the Cl(-) current.
29                 One of these, BEST1, encodes bestrophin-1, a protein that when mutated causes Best ma
30 alcium-activated chloride channels (TMEM16A, Bestrophin-1, ClC2, and SLC26A9), both features striking
31                    The transmembrane protein bestrophin-1, encoded by BEST1, is located at the basola
32 Here, we describe four missense mutations in bestrophin-1, three that we believe are previously unrep
33 hannel activity and cellular localization of bestrophin-1.
34 kcc1) and the Ca(2+)-activated anion channel Bestrophin 2 (Best2), as well as glycoprotein accumulati
35                                              Bestrophin-2 (Best2), a putative Cl(-) channel is expres
36    Mice deficient in the bicarbonate channel bestrophin-2 (Best2), however, exhibit a lower IOP despi
37 igated the role of a candidate CaCC protein, bestrophin-2 (Best2), using Best2-/- mice.
38 matically replaced every amino acid in mouse bestrophin-2 (mBest2) between positions 69 and 104 with
39 inantly expressed in RPE/choroid and encodes bestrophin, a 580-amino acid protein of 66 kDa.
40 ated in Best macular dystrophy (BMD) encodes bestrophin, a 68-kDa basolateral plasma membrane protein
41            Neither wild-type (wt) nor mutant bestrophin affected the a- or b-waves of the ERG.
42  cells by adenovirus-mediated gene transfer, bestrophin again was determined by confocal microscopy a
43                                 VMD2 encodes bestrophin, an oligomeric chloride channel that is prefe
44          Protein-protein interaction between bestrophin and PP2Ac and the structural subunit of PP2A,
45 ltured for 21 days were harvested to compare bestrophin and RPE65 mRNA expression.
46 phin complex from RPE lysates and identified bestrophin and the beta-catalytic subunit of protein pho
47 e heart, including CFTR, ClC-2, ClC-3, CLCA, Bestrophin, and TMEM16A.
48   Cytoplasmic calcium (Ca(2+)) activates the bestrophin anion channel, allowing chloride ions to flow
49                                          The bestrophins are a newly described family of anion channe
50                                              Bestrophins are a newly identified family of Cl(-) chann
51  interpreted in terms of the hypotheses that bestrophins are Cl(-) channels and regulators of Ca sign
52          Recently, it has been proposed that bestrophins are Cl- channels and that the putative secon
53        This study provides evidence that the bestrophins are expressed in pancreatic duct cells and,
54                   It has been suggested that bestrophins are multifunctional proteins: they may regul
55                             We conclude that bestrophins are the first molecularly identified Cl- cha
56                             We conclude that bestrophins are volume sensitive and that they could pla
57                                              Bestrophin calcium-activated chloride channels (CaCCs) r
58  Several chloride channels including TMEM16, bestrophin, CFTR, CLCN2 and CLCA1, are also expressed in
59 provide the first structural analysis of the bestrophin channel family.
60 nction further, we immunoaffinity purified a bestrophin complex from RPE lysates and identified bestr
61 kage and a approximately 70-80% reduction in bestrophin current.
62 es in extracellular osmolarity increased the bestrophin currents slightly, but this was difficult to
63 photoreceptor discs, we investigated whether bestrophin currents were affected by cell volume.
64  that have a single "selectivity filter," in bestrophin, distinct regions of the pore govern anion-vs
65 curs before activation of bestrophin or that bestrophin does not directly generate the LP conductance
66              The human genome codes for four bestrophins, each of which confers a distinctive plasma
67                                Recently, the bestrophin family of proteins have been proposed as a po
68 ls at the apical membrane are members of the bestrophin family which, like CFTR, are also permeable t
69  Cl- channels, which included members of the bestrophin family.
70  here that human, Drosophila, and C. elegans bestrophins form oligomeric chloride channels, and that
71                                We cloned two bestrophins from Xenopus oocytes, which express high lev
72                      BEST1 (alias VMD2), the bestrophin gene causally associated with BMD, was evalua
73                             Mutations in the Bestrophin gene were shown in patients affected with VMD
74                              We predict that bestrophin has six transmembrane domains with the conser
75      In the present study, the expression of bestrophins has been investigated in the cystic fibrosis
76                                     Although bestrophins have been shown clearly to be Cl(-) ion chan
77                           There are multiple bestrophin homologues in the human, Drosophila, and Caen
78                                           Wt bestrophin, however, increased the c-wave and fast oscil
79          Immunohistochemical localization of bestrophin in a series of 22 unaffected eyes revealed a
80                                              Bestrophin in human RPE partitioned in the detergent pha
81 ochemistry could not confirm the presence of Bestrophin in normal human retina.
82      Our findings reveal a novel function of bestrophin in regulation of Ca(V) channels and suggest a
83   Purified PP2A effectively dephosphorylated bestrophin in vitro.
84  sensitive control of ion selectivity in the bestrophins, including reversal of anion/cation selectiv
85 echanism in C termini may be universal among bestrophins investigated in the study.
86                                              Bestrophin is a 68-kDa basolateral plasma membrane prote
87                Recently it was proposed that bestrophin is a chloride channel responsible for generat
88                      These data suggest that bestrophin is in the signal transduction pathway that mo
89 phosphorylation, and that phosphorylation of bestrophin is in turn regulated by PP2A.
90 g of macaque and porcine eyes indicated that bestrophin is localized at the basolateral plasma membra
91 oligomeric chloride channels, and that human bestrophin is sensitive to intracellular calcium.
92                                              Bestrophin is thought to be the Cl channel that generate
93                              The function of bestrophin is unknown.
94                                Expression of bestrophins is strongly correlated with the function of
95              All of the cell lines expressed bestrophin mRNA by reverse transcription-PCR, but not on
96 ed positive identification of all four human bestrophin mRNAs.
97                                Bestrophin or bestrophin mutants (W93C or R218C) were overexpressed in
98                                              Bestrophin or bestrophin mutants (W93C or R218C) were ov
99 explants, but expressed very little mRNA for bestrophin or RPE65.
100 ing LP amplitude occurs before activation of bestrophin or that bestrophin does not directly generate
101 model of BMD and to determine the effects of bestrophin overexpression on the RPE-generated component
102  of bestrophin suggests the possibility that bestrophin plays a role in generating the altered electr
103 smembrane domain participates in forming the bestrophin pore.
104 hannels, as was previously thought, and that bestrophins, previously prime candidates for Ca(2+)-acti
105                            The expression of bestrophin protein and mRNA was evaluated by immunohisto
106     Topographic differences in the levels of bestrophin protein may in part explain the propensity fo
107 structure of the anion conduction pathway of bestrophins provides insights into how mutations produce
108     LP response functions were unaffected by bestrophin R218C but were significantly altered by bestr
109                 Because overexpression of wt bestrophin shifted luminance response but did not alter
110 -binding domain that is not present in other bestrophin subtypes.
111  basolateral plasma membrane localization of bestrophin suggests the possibility that bestrophin play
112                                              Bestrophin, the protein product of the VMD gene, has fou
113 ss a range of stimuli were not altered by wt bestrophin, though the luminance response function was d
114                                              Bestrophins (VMD2, VMD2L1, VMD2L2, and VMD2L3) are a new
115 phin R218C but were significantly altered by bestrophin W93C.
116                                              Bestrophin was confined to the basolateral plasma membra
117                                              Bestrophin was phosphorylated when expressed in RPE-J ce
118         The C-terminal cytoplasmic domain of bestrophin was sufficient for the interaction with PP2A
119 ne on chromosome 11q13, encoding the protein bestrophin, was identified.
120                              To characterize bestrophin, we initially probed the retinal pigment epit
121                     To facilitate studies of bestrophin, we produced both rabbit polyclonal and mouse
122                         Four of these mutant bestrophins were coexpressed with the wild type and each
123                                  The Xenopus bestrophins were expressed in a variety of tissues.
124                                 When Xenopus bestrophins were heterologously expressed in human embry
125     The prediction of enzymatic activity for bestrophin, whose gene is mutated in Best macular dystro

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