Type |
Details |
Score |
Publication |
First Author: |
Storm T |
Year: |
2019 |
Journal: |
Invest Ophthalmol Vis Sci |
Title: |
Selective Ablation of Megalin in the Retinal Pigment Epithelium Results in Megaophthalmos, Macromelanosome Formation and Severe Retina Degeneration. |
Volume: |
60 |
Issue: |
1 |
Pages: |
322-330 |
|
•
•
•
•
•
|
Publication |
First Author: |
Go YM |
Year: |
2020 |
Journal: |
FASEB J |
Title: |
MTOR-initiated metabolic switch and degeneration in the retinal pigment epithelium. |
Volume: |
34 |
Issue: |
9 |
Pages: |
12502-12520 |
|
•
•
•
•
•
|
Publication |
First Author: |
Cai J |
Year: |
2022 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
DARPP32, a target of hyperactive mTORC1 in the retinal pigment epithelium. |
Volume: |
119 |
Issue: |
33 |
Pages: |
e2207489119 |
|
•
•
•
•
•
|
Publication |
First Author: |
Huang J |
Year: |
2019 |
Journal: |
Theranostics |
Title: |
Abnormal mTORC1 signaling leads to retinal pigment epithelium degeneration. |
Volume: |
9 |
Issue: |
4 |
Pages: |
1170-1180 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yao J |
Year: |
2015 |
Journal: |
Autophagy |
Title: |
Deletion of autophagy inducer RB1CC1 results in degeneration of the retinal pigment epithelium. |
Volume: |
11 |
Issue: |
6 |
Pages: |
939-53 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shang P |
Year: |
2017 |
Journal: |
Aging Cell |
Title: |
The amino acid transporter SLC36A4 regulates the amino acid pool in retinal pigmented epithelial cells and mediates the mechanistic target of rapamycin, complex 1 signaling. |
Volume: |
16 |
Issue: |
2 |
Pages: |
349-359 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ghosh S |
Year: |
2017 |
Journal: |
J Pathol |
Title: |
Activating the AKT2-nuclear factor-κB-lipocalin-2 axis elicits an inflammatory response in age-related macular degeneration. |
Volume: |
241 |
Issue: |
5 |
Pages: |
583-588 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bullock J |
Year: |
2021 |
Journal: |
Invest Ophthalmol Vis Sci |
Title: |
Degradation of Photoreceptor Outer Segments by the Retinal Pigment Epithelium Requires Pigment Epithelium-Derived Factor Receptor (PEDF-R). |
Volume: |
62 |
Issue: |
2 |
Pages: |
30 |
|
•
•
•
•
•
|
Publication |
First Author: |
Masuda T |
Year: |
2014 |
Journal: |
J Biol Chem |
Title: |
Transcription factor SOX9 plays a key role in the regulation of visual cycle gene expression in the retinal pigment epithelium. |
Volume: |
289 |
Issue: |
18 |
Pages: |
12908-21 |
|
•
•
•
•
•
|
Publication |
First Author: |
Valapala M |
Year: |
2014 |
Journal: |
Autophagy |
Title: |
Lysosomal-mediated waste clearance in retinal pigment epithelial cells is regulated by CRYBA1/βA3/A1-crystallin via V-ATPase-MTORC1 signaling. |
Volume: |
10 |
Issue: |
3 |
Pages: |
480-96 |
|
•
•
•
•
•
|
Publication |
First Author: |
Swarup A |
Year: |
2019 |
Journal: |
Am J Physiol Cell Physiol |
Title: |
Modulating GLUT1 expression in retinal pigment epithelium decreases glucose levels in the retina: impact on photoreceptors and Müller glial cells. |
Volume: |
316 |
Issue: |
1 |
Pages: |
C121-C133 |
|
•
•
•
•
•
|
Allele |
Name: |
transgene insertion 1, Joshua L Dunaief |
Allele Type: |
Transgenic |
Attribute String: |
Recombinase |
|
•
•
•
•
•
|
HT Experiment |
|
Experiment Type: |
RNA-Seq |
Study Type: |
Baseline |
Source: |
GEO |
|
•
•
•
•
•
|
HT Experiment |
|
Experiment Type: |
RNA-Seq |
Study Type: |
Baseline |
Source: |
GEO |
|
•
•
•
•
•
|
HT Experiment |
Series Id: |
GSE43951 |
Experiment Type: |
transcription profiling by array |
Study Type: |
WT vs. Mutant |
Source: |
ArrayExpress |
|
•
•
•
•
•
|
Publication |
First Author: |
Samra YA |
Year: |
2021 |
Journal: |
Int J Mol Sci |
Title: |
Implication of N-Methyl-d-Aspartate Receptor in Homocysteine-Induced Age-Related Macular Degeneration. |
Volume: |
22 |
Issue: |
17 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Han JYS |
Year: |
2020 |
Journal: |
FASEB J |
Title: |
Role of monocarboxylate transporters in regulating metabolic homeostasis in the outer retina: Insight gained from cell-specific Bsg deletion. |
Volume: |
34 |
Issue: |
4 |
Pages: |
5401-5419 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ando S |
Year: |
2021 |
Journal: |
Biochem Biophys Res Commun |
Title: |
Rubicon regulates A2E-induced autophagy impairment in the retinal pigment epithelium implicated in the pathology of age-related macular degeneration. |
Volume: |
551 |
|
Pages: |
148-154 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhang J |
Year: |
2015 |
Journal: |
Mol Cell Biochem |
Title: |
Effects of p75 neurotrophin receptor on regulating hypoxia-induced angiogenic factors in retinal pigment epithelial cells. |
Volume: |
398 |
Issue: |
1-2 |
Pages: |
123-34 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tomellini E |
Year: |
2014 |
Journal: |
Cell Mol Life Sci |
Title: |
Role of p75 neurotrophin receptor in stem cell biology: more than just a marker. |
Volume: |
71 |
Issue: |
13 |
Pages: |
2467-81 |
|
•
•
•
•
•
|
Publication |
First Author: |
Micera A |
Year: |
2007 |
Journal: |
Cytokine Growth Factor Rev |
Title: |
Nerve growth factor and tissue repair remodeling: trkA(NGFR) and p75(NTR), two receptors one fate. |
Volume: |
18 |
Issue: |
3-4 |
Pages: |
245-56 |
|
•
•
•
•
•
|
Publication |
First Author: |
Furuta J |
Year: |
2014 |
Journal: |
J Invest Dermatol |
Title: |
CD271 on melanoma cell is an IFN-γ-inducible immunosuppressive factor that mediates downregulation of melanoma antigens. |
Volume: |
134 |
Issue: |
5 |
Pages: |
1369-1377 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zeng F |
Year: |
2011 |
Journal: |
Biochem Pharmacol |
Title: |
Roles of p75NTR in the pathogenesis of Alzheimer's disease: a novel therapeutic target. |
Volume: |
82 |
Issue: |
10 |
Pages: |
1500-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Meeker R |
Year: |
2014 |
Journal: |
J Neuroimmune Pharmacol |
Title: |
Dynamic nature of the p75 neurotrophin receptor in response to injury and disease. |
Volume: |
9 |
Issue: |
5 |
Pages: |
615-28 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Domain |
Description: |
Tumor necrosis factor receptor superfamily member 16 (TNFRSF16), also known as nerve growth factor receptor (NGFR) or p75 neurotrophin receptor (p75NTR or p75), CD271, or Gp80-LNGFR, is a common receptor for both neurotrophins and proneurotrophins, and plays a diverse role in many tissues, including the nervous system. It has been shown to be expressed in various types of stem cells and has been used to prospectively isolate stem cells with different degrees of potency []. p75NTR owes its signaling to the recruitment of intracellular binding proteins, leading to the activation of different signaling pathways []. It binds nerve growth factor (NGF) and the complex can initiate a signaling cascade which has been associated with both neuronal apoptosis and neuronal survival of discrete populations of neurons, depending on the presence or absence of intracellular signaling molecules downstream of p75NTR (e.g. NF-kB, JNK, or p75NTR intracellular death domain). p75NTR can also bind NGF in concert with the neurotrophic tyrosine kinase receptor type 1 (TrkA) protein where it is thought to modulate the formation of the high-affinity neurotrophin binding complex [].In melanoma cells, p75NTR is an immunosuppressive factor, induced by interferon (IFN)-gamma, and mediates down-regulation of melanoma antigens []. It can interact with the aggregated form of amyloid beta (Abeta) peptides, and plays an important role in etiopathogenesis of Alzheimer's disease by influencing protein tau hyper-phosphorylation []. p75NTR is involved in the formation and progression of retina diseases; its expression is induced in retinal pigment epithelium (RPE) cells and its knockdown rescues RPE cell proliferation activity and inhibits RPE apoptosis induced by hypoxia []. It can therefore be a potential therapeutic target for RPE hypoxia or oxidative stress diseases.This entry represents the N-terminal domain of TNFRSF16. TNF-receptors are modular proteins. The N-terminal extracellular part contains a cysteine-rich region responsible for ligand-binding. This region is composed of small modules of about 40 residues containing 6 conserved cysteines; the number and type of modules can vary in different members of the family [, , ]. |
|
•
•
•
•
•
|
Publication |
First Author: |
Marmorstein LY |
Year: |
2002 |
Journal: |
J Biol Chem |
Title: |
Bestrophin interacts physically and functionally with protein phosphatase 2A. |
Volume: |
277 |
Issue: |
34 |
Pages: |
30591-7 |
|
•
•
•
•
•
|
HT Experiment |
|
Experiment Type: |
RNA-Seq |
Study Type: |
WT vs. Mutant |
Source: |
GEO |
|
•
•
•
•
•
|
Publication |
First Author: |
Eblimit A |
Year: |
2018 |
Journal: |
Exp Eye Res |
Title: |
Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice. |
Volume: |
166 |
|
Pages: |
120-130 |
|
•
•
•
•
•
|
Publication |
First Author: |
Samra YA |
Year: |
2023 |
Journal: |
Int J Mol Sci |
Title: |
Warburg Effect as a Novel Mechanism for Homocysteine-Induced Features of Age-Related Macular Degeneration. |
Volume: |
24 |
Issue: |
2 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Le D |
Year: |
2021 |
Journal: |
Mol Cells |
Title: |
Tsg101 Is Necessary for the Establishment and Maintenance of Mouse Retinal Pigment Epithelial Cell Polarity. |
Volume: |
44 |
Issue: |
3 |
Pages: |
168-178 |
|
•
•
•
•
•
|
Publication |
First Author: |
Malsy J |
Year: |
2020 |
Journal: |
Elife |
Title: |
Distinct effects of complement and of NLRP3- and non-NLRP3 inflammasomes for choroidal neovascularization. |
Volume: |
9 |
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Wolkow N |
Year: |
2012 |
Journal: |
Am J Pathol |
Title: |
Ferroxidase hephaestin's cell-autonomous role in the retinal pigment epithelium. |
Volume: |
180 |
Issue: |
4 |
Pages: |
1614-24 |
|
•
•
•
•
•
|
Publication |
First Author: |
Klee K |
Year: |
2019 |
Journal: |
Exp Eye Res |
Title: |
Systemic knockout of Tspo in mice does not affect retinal morphology, function and susceptibility to degeneration. |
Volume: |
188 |
|
Pages: |
107816 |
|
•
•
•
•
•
|
Publication |
First Author: |
Sundermeier TR |
Year: |
2017 |
Journal: |
J Biol Chem |
Title: |
MicroRNA-processing Enzymes Are Essential for Survival and Function of Mature Retinal Pigmented Epithelial Cells in Mice. |
Volume: |
292 |
Issue: |
8 |
Pages: |
3366-3378 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, transgenic |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, transgenic |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Tg(BEST1-cre)1Jdun/? |
Background: |
C57BL/6-Tg(BEST1-cre)1Jdun |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Tg(BEST1-cre)1Jdun/? |
Background: |
involves: C57BL/6 * C57BL/6J |
Zygosity: |
ot |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Kaneko H |
Year: |
2011 |
Journal: |
Nature |
Title: |
DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration. |
Volume: |
471 |
Issue: |
7338 |
Pages: |
325-30 |
|
•
•
•
•
•
|
HT Experiment |
Series Id: |
GSE65154 |
Experiment Type: |
transcription profiling by array |
Study Type: |
WT vs. Mutant |
Source: |
ArrayExpress |
|
•
•
•
•
•
|
Publication |
First Author: |
Iacovelli J |
Year: |
2011 |
Journal: |
Invest Ophthalmol Vis Sci |
Title: |
Generation of Cre transgenic mice with postnatal RPE-specific ocular expression. |
Volume: |
52 |
Issue: |
3 |
Pages: |
1378-83 |
|
•
•
•
•
•
|
Publication |
First Author: |
Liu Y |
Year: |
2024 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Cone photoreceptor differentiation regulated by thyroid hormone transporter MCT8 in the retinal pigment epithelium. |
Volume: |
121 |
Issue: |
30 |
Pages: |
e2402560121 |
|
•
•
•
•
•
|
Publication |
First Author: |
Shao A |
Year: |
2022 |
Journal: |
Dis Model Mech |
Title: |
Arap1 loss causes retinal pigment epithelium phagocytic dysfunction and subsequent photoreceptor death. |
Volume: |
15 |
Issue: |
7 |
|
|
•
•
•
•
•
|
HT Experiment |
Series Id: |
GSE53411 |
Experiment Type: |
transcription profiling by array |
Study Type: |
WT vs. Mutant |
Source: |
ArrayExpress |
|
•
•
•
•
•
|
Publication |
First Author: |
Ma W |
Year: |
2017 |
Journal: |
Sci Rep |
Title: |
Monocyte infiltration and proliferation reestablish myeloid cell homeostasis in the mouse retina following retinal pigment epithelial cell injury. |
Volume: |
7 |
Issue: |
1 |
Pages: |
8433 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ghosh S |
Year: |
2019 |
Journal: |
Commun Biol |
Title: |
Neutrophils homing into the retina trigger pathology in early age-related macular degeneration. |
Volume: |
2 |
|
Pages: |
348 |
|
•
•
•
•
•
|
Publication |
First Author: |
Valapala M |
Year: |
2014 |
Journal: |
Aging Cell |
Title: |
Increased Lipocalin-2 in the retinal pigment epithelium of Cryba1 cKO mice is associated with a chronic inflammatory response. |
Volume: |
13 |
Issue: |
6 |
Pages: |
1091-4 |
|
•
•
•
•
•
|
Publication |
First Author: |
Valapala M |
Year: |
2015 |
Journal: |
Sci Rep |
Title: |
βA3/A1-crystallin is a critical mediator of STAT3 signaling in optic nerve astrocytes. |
Volume: |
5 |
|
Pages: |
8755 |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Heph/Heph Tg(BEST1-cre)1Jdun/? |
Background: |
involves: C57BL/6 * C57BL/6NTac |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Cryba1/Cryba1 Tg(BEST1-cre)1Jdun/? |
Background: |
involves: 129S6/SvEvTac * C57BL/6 |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Rb1cc1/Rb1cc1 Tg(BEST1-cre)1Jdun/? |
Background: |
involves: 129P2/OlaHsd * C57BL/6 |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Tfam/Tfam Tg(BEST1-cre)1Jdun/? |
Background: |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Clic4/Clic4 Tg(BEST1-cre)1Jdun/? |
Background: |
involves: C57BL/6 * C57BL/6J |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Tsc1/Tsc1 Tg(BEST1-cre)1Jdun/? |
Background: |
involves: 129S4/SvJae * C57BL/6J |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Kim JM |
Year: |
2023 |
Journal: |
Mol Cells |
Title: |
Wnt/β-Catenin Signaling Pathway Is Necessary for the Specification but Not the Maintenance of the Mouse Retinal Pigment Epithelium. |
Volume: |
46 |
Issue: |
7 |
Pages: |
441-450 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Bestrophin is a 68kDa basolateral plasma membrane protein expressed in retinal pigment epithelial cells (RPE). It is encoded by the VMD2 gene, which is mutated in Best macular dystrophy, a disease characterised by a depressed light peak in the electrooculogram []. VMD2 encodes a 585-amino acid protein with an approximate mass of 68kDa which has been designated bestrophin. Bestrophin shares homology with the Caenorhabditis elegans RFP gene family, named for the presence of a conserved arginine (R), phenylalanine (F), proline (P), amino acid sequence motif. Bestrophin is a plasma membrane protein, localised to the basolateral surface of RPE cells consistent with a role for bestrophin in the generation or regulation of the EOG light peak. Bestrophin and other RFP family members represent a new class of calcium-activated chloride channels (CaCC) [], indicating a direct role for bestrophin in generating the light peak [, , ]. Bestrophins are also permeable to other monovalent anions including bicarbonate, bromine, iodine, thiocyanate an nitrate [, ]. Structural analysis revealed thatN-terminal region of the proteins is highly conserved and sufficient for its CaCC activity. The C-terminal region has low sequence identity. The VMD2 gene underlying Best disease was shown to represent the first human member of the RFP-TM protein family. More than 97% of the disease-causing mutations are located in the N-terminal domain altering the electrophysiological properties of the channel [, ]. |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
Bestrophin is a 68kDa basolateral plasma membrane protein expressed in retinal pigment epithelial cells (RPE). It is encoded by the VMD2 gene, which is mutated in Best macular dystrophy, a disease characterised by a depressed light peak in the electrooculogram []. VMD2 encodes a 585-amino acid protein with an approximate mass of 68kDa which has been designated bestrophin. Bestrophin shares homology with the Caenorhabditis elegans RFP gene family, named for the presence of a conserved arginine (R), phenylalanine (F), proline (P), amino acid sequence motif. Bestrophin is a plasma membrane protein, localised to the basolateral surface of RPE cells consistent with a role for bestrophin in the generation or regulation of the EOG light peak. Bestrophin and other RFP family members represent a new class of calcium-activated chloride channels (CaCC) [], indicating a direct role for bestrophin in generating the light peak [, , ]. Bestrophins are also permeable to other monovalent anions including bicarbonate, bromine, iodine, thiocyanate an nitrate [, ]. Structural analysis revealed that N-terminal region of the proteins is highly conserved and sufficient for its CaCC activity. The C-terminal region has low sequence identity. The VMD2 gene underlying Best disease was shown to represent the first human member of the RFP-TM protein family. More than 97% of the disease-causing mutations are located in the N-terminal domain altering the electrophysiological properties of the channel [, ].This entry also includes uncharacterised proteins belonging to protein family UPF0187. |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Cp/Cp Heph/Heph Tg(BEST1-cre)1Jdun/? |
Background: |
involves: 129X1/SvJ * C57BL/6 * C57BL/6NTac |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Cp/Cp Heph/Heph Tg(BEST1-cre)1Jdun/? Tg(Rho-cre)#Yzl/? |
Background: |
involves: 129X1/SvJ * C57BL/6 * C57BL/6NTac |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Spata7/Spata7 Tg(BEST1-cre)1Jdun/? |
Background: |
involves: 129S7/SvEvBrd * C57BL/6 |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Gt(ROSA)26Sor/Gt(ROSA)26Sor<+> Tg(BEST1-cre)1Jdun/? |
Background: |
involves: 129S4/SvJae * 129S4/SvJaeSor * C57BL/6 |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
HT Experiment |
|
Experiment Type: |
RNA-Seq |
Study Type: |
Baseline |
Source: |
GEO |
|
•
•
•
•
•
|
HT Experiment |
|
Experiment Type: |
RNA-Seq |
Study Type: |
WT vs. Mutant |
Source: |
GEO |
|
•
•
•
•
•
|
HT Experiment |
|
Experiment Type: |
RNA-Seq |
Study Type: |
Baseline |
Source: |
GEO |
|
•
•
•
•
•
|
Publication |
First Author: |
Kitamoto J |
Year: |
2005 |
Journal: |
Exp Eye Res |
Title: |
Myosin VI is required for normal retinal function. |
Volume: |
81 |
Issue: |
1 |
Pages: |
116-20 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wollmann G |
Year: |
2006 |
Journal: |
Vision Res |
Title: |
Voltage-dependent ion channels in the mouse RPE: comparison with Norrie disease mice. |
Volume: |
46 |
Issue: |
5 |
Pages: |
688-98 |
|
•
•
•
•
•
|
Publication |
First Author: |
Qu Z |
Year: |
2008 |
Journal: |
Am J Physiol Cell Physiol |
Title: |
Bestrophin Cl- channels are highly permeable to HCO3-. |
Volume: |
294 |
Issue: |
6 |
Pages: |
C1371-7 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
508
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
669
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
551
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
420
 |
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
508
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Stöhr H |
Year: |
2002 |
Journal: |
Eur J Hum Genet |
Title: |
Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family. |
Volume: |
10 |
Issue: |
4 |
Pages: |
281-4 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tsunenari T |
Year: |
2003 |
Journal: |
J Biol Chem |
Title: |
Structure-function analysis of the bestrophin family of anion channels. |
Volume: |
278 |
Issue: |
42 |
Pages: |
41114-25 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kane Dickson V |
Year: |
2014 |
Journal: |
Nature |
Title: |
Structure and insights into the function of a Ca(2+)-activated Cl(-) channel. |
Volume: |
516 |
Issue: |
7530 |
Pages: |
213-8 |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Slc16a2/Slc16a2 Tg(BEST1-cre)1Jdun/? Tyr/Tyr |
Background: |
involves: 129S1/SvImJ * C57BL/6J * C57BL/6N |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Slc16a2/? Tg(BEST1-cre)1Jdun/? Tyr/Tyr |
Background: |
involves: 129S1/SvImJ * C57BL/6J * C57BL/6N |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
HT Experiment |
Series Id: |
GSE22882 |
Experiment Type: |
transcription profiling by array |
Study Type: |
Baseline |
Source: |
ArrayExpress |
|
•
•
•
•
•
|
Publication |
First Author: |
Weng J |
Year: |
1999 |
Journal: |
Cell |
Title: |
Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. |
Volume: |
98 |
Issue: |
1 |
Pages: |
13-23 |
|
•
•
•
•
•
|
Publication |
First Author: |
Parry DA |
Year: |
2009 |
Journal: |
Am J Hum Genet |
Title: |
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. |
Volume: |
84 |
Issue: |
5 |
Pages: |
683-91 |
|
•
•
•
•
•
|
Publication |
First Author: |
Saksens NT |
Year: |
2016 |
Journal: |
Nat Genet |
Title: |
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. |
Volume: |
48 |
Issue: |
2 |
Pages: |
144-51 |
|
•
•
•
•
•
|
Publication |
First Author: |
Redmond TM |
Year: |
1998 |
Journal: |
Nat Genet |
Title: |
Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. |
Volume: |
20 |
Issue: |
4 |
Pages: |
344-51 |
|
•
•
•
•
•
|
Publication |
First Author: |
Amae S |
Year: |
1998 |
Journal: |
Biochem Biophys Res Commun |
Title: |
Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium. |
Volume: |
247 |
Issue: |
3 |
Pages: |
710-5 |
|
•
•
•
•
•
|
Publication |
First Author: |
Imanishi Y |
Year: |
2008 |
Journal: |
J Biol Chem |
Title: |
Retinyl ester homeostasis in the adipose differentiation-related protein-deficient retina. |
Volume: |
283 |
Issue: |
36 |
Pages: |
25091-102 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bumsted KM |
Year: |
2001 |
Journal: |
Exp Eye Res |
Title: |
Defects in the MITF(mi/mi) apical surface are associated with a failure of outer segment elongation. |
Volume: |
73 |
Issue: |
3 |
Pages: |
383-92 |
|
•
•
•
•
•
|
Publication |
First Author: |
Moon KH |
Year: |
2018 |
Journal: |
Dev Cell |
Title: |
Differential Expression of NF2 in Neuroepithelial Compartments Is Necessary for Mammalian Eye Development. |
Volume: |
44 |
Issue: |
1 |
Pages: |
13-28.e3 |
|
•
•
•
•
•
|
Publication |
First Author: |
Dakubo GD |
Year: |
2008 |
Journal: |
Dev Biol |
Title: |
Indian hedgehog signaling from endothelial cells is required for sclera and retinal pigment epithelium development in the mouse eye. |
Volume: |
320 |
Issue: |
1 |
Pages: |
242-55 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kim Y |
Year: |
2014 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
DICER1/Alu RNA dysmetabolism induces Caspase-8-mediated cell death in age-related macular degeneration. |
Volume: |
111 |
Issue: |
45 |
Pages: |
16082-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rattner A |
Year: |
2008 |
Journal: |
J Neurosci |
Title: |
The genomic response of the retinal pigment epithelium to light damage and retinal detachment. |
Volume: |
28 |
Issue: |
39 |
Pages: |
9880-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Tarallo V |
Year: |
2012 |
Journal: |
Cell |
Title: |
DICER1 loss and Alu RNA induce age-related macular degeneration via the NLRP3 inflammasome and MyD88. |
Volume: |
149 |
Issue: |
4 |
Pages: |
847-59 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mori M |
Year: |
2012 |
Journal: |
Genesis |
Title: |
Temporally controlled targeted somatic mutagenesis in mouse eye pigment epithelium. |
Volume: |
50 |
Issue: |
11 |
Pages: |
828-32 |
|
•
•
•
•
•
|
Publication |
First Author: |
Bäumer N |
Year: |
2003 |
Journal: |
Development |
Title: |
Retinal pigmented epithelium determination requires the redundant activities of Pax2 and Pax6. |
Volume: |
130 |
Issue: |
13 |
Pages: |
2903-15 |
|
•
•
•
•
•
|
Publication |
First Author: |
Palczewska G |
Year: |
2016 |
Journal: |
J Biol Chem |
Title: |
Receptor MER Tyrosine Kinase Proto-oncogene (MERTK) Is Not Required for Transfer of Bis-retinoids to the Retinal Pigmented Epithelium. |
Volume: |
291 |
Issue: |
52 |
Pages: |
26937-26949 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ng ESY |
Year: |
2022 |
Journal: |
Cells |
Title: |
Membrane Attack Complex Mediates Retinal Pigment Epithelium Cell Death in Stargardt Macular Degeneration. |
Volume: |
11 |
Issue: |
21 |
|
|
•
•
•
•
•
|
Publication |
First Author: |
Kim SR |
Year: |
2004 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Rpe65 Leu450Met variant is associated with reduced levels of the retinal pigment epithelium lipofuscin fluorophores A2E and iso-A2E. |
Volume: |
101 |
Issue: |
32 |
Pages: |
11668-72 |
|
•
•
•
•
•
|
Publication |
First Author: |
Maeda A |
Year: |
2014 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Two-photon microscopy reveals early rod photoreceptor cell damage in light-exposed mutant mice. |
Volume: |
111 |
Issue: |
14 |
Pages: |
E1428-37 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhang KR |
Year: |
2022 |
Journal: |
Exp Eye Res |
Title: |
Conditional knockout of hephaestin in the neural retina disrupts retinal iron homeostasis. |
Volume: |
218 |
|
Pages: |
109028 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fujimura N |
Year: |
2009 |
Journal: |
Dev Biol |
Title: |
Spatial and temporal regulation of Wnt/beta-catenin signaling is essential for development of the retinal pigment epithelium. |
Volume: |
334 |
Issue: |
1 |
Pages: |
31-45 |
|
•
•
•
•
•
|
Publication |
First Author: |
Augustin S |
Year: |
2023 |
Journal: |
J Neuroinflammation |
Title: |
Melanophages give rise to hyperreflective foci in AMD, a disease-progression marker. |
Volume: |
20 |
Issue: |
1 |
Pages: |
28 |
|
•
•
•
•
•
|
Publication |
First Author: |
Marneros AG |
Year: |
2005 |
Journal: |
Am J Pathol |
Title: |
Vascular endothelial growth factor expression in the retinal pigment epithelium is essential for choriocapillaris development and visual function. |
Volume: |
167 |
Issue: |
5 |
Pages: |
1451-9 |
|
•
•
•
•
•
|