Type |
Details |
Score |
Genotype |
Symbol: |
Cyfip2/Cyfip2<+> |
Background: |
(C57BL/6N x C57BL/6J)F1 |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Cyfip1/Cyfip1<+> |
Background: |
B6J.129S7-Cyfip1 |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Nufip1/Nufip1<+> |
Background: |
C57BL/6NCrl-Nufip1/Mmucd |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Fmr1/Fmr1 Fxr2/Fxr2 |
Background: |
involves: 129P2/OlaHsd * 129S7/SvEvBrd |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Fxr2/Fxr2<+> |
Background: |
C57BL/6N-Fxr2/Bay |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Cyfip2/Cyfip2<+> |
Background: |
involves: C57BL/6 |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Cyfip2/Cyfip2<+> |
Background: |
C57BL/6N-Cyfip2/Wtsi |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Cyfip2/Cyfip2 Tg(Dkk3-cre)D9Tfur/? |
Background: |
involves: C3H * C57BL/6 * C57BL/6N |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Balekoglu N |
Year: |
2024 |
Journal: |
iScience |
Title: |
The WAVE regulatory complex interacts with Boc and is required for Shh-mediated axon guidance. |
Volume: |
27 |
Issue: |
12 |
Pages: |
111333 |
|
•
•
•
•
•
|
Publication |
First Author: |
Morimoto K |
Year: |
2020 |
Journal: |
Sci Rep |
Title: |
Reverse genetics reveals single gene of every candidate on Hybrid sterility, X Chromosome QTL 2 (Hstx2) are dispensable for spermatogenesis. |
Volume: |
10 |
Issue: |
1 |
Pages: |
9060 |
|
•
•
•
•
•
|
Publication |
First Author: |
Beggs JE |
Year: |
2015 |
Journal: |
Biochem J |
Title: |
The MAP kinase-interacting kinases regulate cell migration, vimentin expression and eIF4E/CYFIP1 binding. |
Volume: |
467 |
Issue: |
1 |
Pages: |
63-76 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wu M |
Year: |
2000 |
Journal: |
Genomics |
Title: |
An integrated deletion and physical map encompassing l71Rl, a chromosome 7 locus required for peri-implantation survival in the mouse. |
Volume: |
67 |
Issue: |
2 |
Pages: |
228-31 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hukema RK |
Year: |
2014 |
Journal: |
Cell Cycle |
Title: |
Induced expression of expanded CGG RNA causes mitochondrial dysfunction in vivo. |
Volume: |
13 |
Issue: |
16 |
Pages: |
2600-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Qiao X |
Year: |
1998 |
Journal: |
J Neurosci |
Title: |
Cerebellar brain-derived neurotrophic factor-TrkB defect associated with impairment of eyeblink conditioning in Stargazer mutant mice. |
Volume: |
18 |
Issue: |
17 |
Pages: |
6990-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhou C |
Year: |
2020 |
Journal: |
Immunity |
Title: |
Transfer of cGAMP into Bystander Cells via LRRC8 Volume-Regulated Anion Channels Augments STING-Mediated Interferon Responses and Anti-viral Immunity. |
Volume: |
52 |
Issue: |
5 |
Pages: |
767-781.e6 |
|
•
•
•
•
•
|
Strain |
Attribute String: |
inbred strain |
|
•
•
•
•
•
|
Strain |
Attribute String: |
inbred strain |
|
•
•
•
•
•
|
Strain |
Attribute String: |
coisogenic, mutant strain, spontaneous mutation, targeted mutation |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Cyfip2/Cyfip2 |
Background: |
C57BL/6N-Cyfip2/Cyfip2 |
Zygosity: |
ht |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Cyfip2/Cyfip2<+> Fmr1/? |
Background: |
involves: 129P2/OlaHsd * C57BL/6J * C57BL/6NTac |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Nufip1/Nufip1 S100a4/S100a4<+> |
Background: |
involves: C57BL/6J |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Cyfip2/Cyfip2 Shh/Shh<+> |
Background: |
involves: C57BL/6 |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Cyfip2/Cyfip2<+> Eda/Eda |
Background: |
involves: C57BL/6 |
Zygosity: |
cx |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Tonelli Gombalová Z |
Year: |
2020 |
Journal: |
J Comp Neurol |
Title: |
Majority of cerebrospinal fluid-contacting neurons in the spinal cord of C57Bl/6N mice is present in ectopic position unlike in other studied experimental mice strains and mammalian species. |
Volume: |
528 |
Issue: |
15 |
Pages: |
2523-2550 |
|
•
•
•
•
•
|
Publication |
First Author: |
Fridell RA |
Year: |
1996 |
Journal: |
EMBO J |
Title: |
A nuclear role for the Fragile X mental retardation protein. |
Volume: |
15 |
Issue: |
19 |
Pages: |
5408-14 |
|
•
•
•
•
•
|
Publication |
First Author: |
Eberhart DE |
Year: |
1996 |
Journal: |
Hum Mol Genet |
Title: |
The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals. |
Volume: |
5 |
Issue: |
8 |
Pages: |
1083-91 |
|
•
•
•
•
•
|
Publication |
First Author: |
Corbin F |
Year: |
1997 |
Journal: |
Hum Mol Genet |
Title: |
The fragile X mental retardation protein is associated with poly(A)+ mRNA in actively translating polyribosomes. |
Volume: |
6 |
Issue: |
9 |
Pages: |
1465-72 |
|
•
•
•
•
•
|
Publication |
First Author: |
Brown V |
Year: |
2001 |
Journal: |
Cell |
Title: |
Microarray identification of FMRP-associated brain mRNAs and altered mRNA translational profiles in fragile X syndrome. |
Volume: |
107 |
Issue: |
4 |
Pages: |
477-87 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ohashi S |
Year: |
2002 |
Journal: |
J Biol Chem |
Title: |
Identification of mRNA/protein (mRNP) complexes containing Puralpha, mStaufen, fragile X protein, and myosin Va and their association with rough endoplasmic reticulum equipped with a kinesin motor. |
Volume: |
277 |
Issue: |
40 |
Pages: |
37804-10 |
|
•
•
•
•
•
|
Publication |
First Author: |
Ceman S |
Year: |
2003 |
Journal: |
Hum Mol Genet |
Title: |
Phosphorylation influences the translation state of FMRP-associated polyribosomes. |
Volume: |
12 |
Issue: |
24 |
Pages: |
3295-305 |
|
•
•
•
•
•
|
Publication |
First Author: |
Chen L |
Year: |
2003 |
Journal: |
Neuroscience |
Title: |
The fragile X mental retardation protein binds and regulates a novel class of mRNAs containing U rich target sequences. |
Volume: |
120 |
Issue: |
4 |
Pages: |
1005-17 |
|
•
•
•
•
•
|
Publication |
First Author: |
Todd PK |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
The fragile X mental retardation protein is required for type-I metabotropic glutamate receptor-dependent translation of PSD-95. |
Volume: |
100 |
Issue: |
24 |
Pages: |
14374-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Stefani G |
Year: |
2004 |
Journal: |
J Neurosci |
Title: |
Fragile X mental retardation protein is associated with translating polyribosomes in neuronal cells. |
Volume: |
24 |
Issue: |
33 |
Pages: |
7272-6 |
|
•
•
•
•
•
|
Publication |
First Author: |
Kanai Y |
Year: |
2004 |
Journal: |
Neuron |
Title: |
Kinesin transports RNA: isolation and characterization of an RNA-transporting granule. |
Volume: |
43 |
Issue: |
4 |
Pages: |
513-25 |
|
•
•
•
•
•
|
Publication |
First Author: |
Antar LN |
Year: |
2005 |
Journal: |
Genes Brain Behav |
Title: |
Localization of FMRP-associated mRNA granules and requirement of microtubules for activity-dependent trafficking in hippocampal neurons. |
Volume: |
4 |
Issue: |
6 |
Pages: |
350-9 |
|
•
•
•
•
•
|
Publication |
First Author: |
Gross C |
Year: |
2011 |
Journal: |
J Neurosci |
Title: |
Fragile X mental retardation protein regulates protein expression and mRNA translation of the potassium channel Kv4.2. |
Volume: |
31 |
Issue: |
15 |
Pages: |
5693-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhang Y |
Year: |
2014 |
Journal: |
RNA Biol |
Title: |
FMRP interacts with G-quadruplex structures in the 3'-UTR of its dendritic target Shank1 mRNA. |
Volume: |
11 |
Issue: |
11 |
Pages: |
1364-74 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zhang Y |
Year: |
2024 |
Journal: |
Hum Mol Genet |
Title: |
Neurodevelopmental disorder-associated CYFIP2 regulates membraneless organelles and eIF2α phosphorylation via protein interactors and actin cytoskeleton. |
Volume: |
33 |
Issue: |
19 |
Pages: |
1671-1687 |
|
•
•
•
•
•
|
Publication |
First Author: |
Miyashita A |
Year: |
1999 |
Journal: |
Gene |
Title: |
Five different genes, Eif4a1, Cd68, Supl15h, Sox15 and Fxr2h, are clustered in a 40 kb region of mouse chromosome 11. |
Volume: |
237 |
Issue: |
1 |
Pages: |
53-60 |
|
•
•
•
•
•
|
Publication |
First Author: |
Neppl RL |
Year: |
2017 |
Journal: |
J Cell Biol |
Title: |
lncRNA Chronos is an aging-induced inhibitor of muscle hypertrophy. |
Volume: |
216 |
Issue: |
11 |
Pages: |
3497-3507 |
|
•
•
•
•
•
|
Publication |
First Author: |
Naoe H |
Year: |
2010 |
Journal: |
Mol Cell Biol |
Title: |
The anaphase-promoting complex/cyclosome activator Cdh1 modulates Rho GTPase by targeting p190 RhoGAP for degradation. |
Volume: |
30 |
Issue: |
16 |
Pages: |
3994-4005 |
|
•
•
•
•
•
|
Publication |
First Author: |
McIntire JJ |
Year: |
2001 |
Journal: |
Nat Immunol |
Title: |
Identification of Tapr (an airway hyperreactivity regulatory locus) and the linked Tim gene family. |
Volume: |
2 |
Issue: |
12 |
Pages: |
1109-16 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mihola O |
Year: |
2020 |
Journal: |
Chromosoma |
Title: |
Copy-number variation introduced by long transgenes compromises mouse male fertility independently of pachytene checkpoints. |
Volume: |
129 |
Issue: |
1 |
Pages: |
69-82 |
|
•
•
•
•
•
|
HT Experiment |
|
Experiment Type: |
RNA-Seq |
Study Type: |
WT vs. Mutant |
Source: |
GEO |
|
•
•
•
•
•
|
Strain |
Attribute String: |
inbred strain |
|
•
•
•
•
•
|
Strain |
Attribute String: |
inbred strain |
|
•
•
•
•
•
|
Genotype |
Symbol: |
Cyfip2/Cyfip2<+> Shh/Shh<+> |
Background: |
involves: C57BL/6 |
Zygosity: |
cn |
Has Mutant Allele: |
true |
|
•
•
•
•
•
|
Publication |
First Author: |
Oak Ridge National Laboratory |
Year: |
2005 |
Journal: |
Unpublished |
Title: |
Information obtained from the Oak Ridge National Laboratory Mutant Mouse Database (ORNL), Oak Ridge, TN |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
O'Neil SD |
Year: |
2021 |
Journal: |
Elife |
Title: |
Action potential-coupled Rho GTPase signaling drives presynaptic plasticity. |
Volume: |
10 |
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Russell LB |
Year: |
1995 |
Journal: |
Genetics |
Title: |
Complementation analyses for 45 mutations encompassing the pink-eyed dilution (p) locus of the mouse. |
Volume: |
141 |
Issue: |
4 |
Pages: |
1547-62 |
|
•
•
•
•
•
|
Publication |
First Author: |
Rakeman AS |
Year: |
2006 |
Journal: |
Development |
Title: |
Axis specification and morphogenesis in the mouse embryo require Nap1, a regulator of WAVE-mediated actin branching. |
Volume: |
133 |
Issue: |
16 |
Pages: |
3075-83 |
|
•
•
•
•
•
|
HT Experiment |
|
Experiment Type: |
RNA-Seq |
Study Type: |
WT vs. Mutant |
Source: |
GEO |
|
•
•
•
•
•
|
Publication |
First Author: |
Dillman AA |
Year: |
2013 |
Journal: |
Nat Neurosci |
Title: |
mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex. |
Volume: |
16 |
Issue: |
4 |
Pages: |
499-506 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yang J |
Year: |
2014 |
Journal: |
Dev Cell |
Title: |
RBM24 is a major regulator of muscle-specific alternative splicing. |
Volume: |
31 |
Issue: |
1 |
Pages: |
87-99 |
|
•
•
•
•
•
|
Publication |
First Author: |
Yokoyama K |
Year: |
2011 |
Journal: |
EMBO J |
Title: |
NYAP: a phosphoprotein family that links PI3K to WAVE1 signalling in neurons. |
Volume: |
30 |
Issue: |
23 |
Pages: |
4739-54 |
|
•
•
•
•
•
|
HT Experiment |
|
Experiment Type: |
RNA-Seq |
Study Type: |
WT vs. Mutant |
Source: |
GEO |
|
•
•
•
•
•
|
Publication |
First Author: |
Li XY |
Year: |
2006 |
Journal: |
Reprod Fertil Dev |
Title: |
Transcription profile during maternal to zygotic transition in the mouse embryo. |
Volume: |
18 |
Issue: |
6 |
Pages: |
635-45 |
|
•
•
•
•
•
|
Publication |
First Author: |
Harikrishnan KN |
Year: |
2005 |
Journal: |
Nat Genet |
Title: |
Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing. |
Volume: |
37 |
Issue: |
3 |
Pages: |
254-64 |
|
•
•
•
•
•
|
Publication |
First Author: |
Arnaud D |
Year: |
1993 |
Journal: |
Genomics |
Title: |
A panel of deleted mouse X chromosome somatic cell hybrids derived from the embryonic stem cell line HD3 shows preferential breakage in the Hprt-DXHX254E region. |
Volume: |
18 |
Issue: |
3 |
Pages: |
520-6 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
167
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Agarwal P |
Year: |
2015 |
Journal: |
BMC Genomics |
Title: |
CGGBP1 mitigates cytosine methylation at repetitive DNA sequences. |
Volume: |
16 |
|
Pages: |
390 |
|
•
•
•
•
•
|
Publication |
First Author: |
Singh U |
Year: |
2015 |
Journal: |
Ups J Med Sci |
Title: |
CGGBP1--an indispensable protein with ubiquitous cytoprotective functions. |
Volume: |
120 |
Issue: |
4 |
Pages: |
219-32 |
|
•
•
•
•
•
|
Publication |
First Author: |
Agarwal P |
Year: |
2016 |
Journal: |
Cell Cycle |
Title: |
Growth signals employ CGGBP1 to suppress transcription of Alu-SINEs. |
Volume: |
15 |
Issue: |
12 |
Pages: |
1558-71 |
|
•
•
•
•
•
|
Publication |
First Author: |
Singh U |
Year: |
2014 |
Journal: |
Cell Cycle |
Title: |
CGGBP1 phosphorylation constitutes a telomere-protection signal. |
Volume: |
13 |
Issue: |
1 |
Pages: |
96-105 |
|
•
•
•
•
•
|
Publication |
First Author: |
Patel D |
Year: |
2019 |
Journal: |
Epigenetics Chromatin |
Title: |
CGGBP1 regulates CTCF occupancy at repeats. |
Volume: |
12 |
Issue: |
1 |
Pages: |
57 |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
CGG triplet repeat-binding protein 1 (CGGBP1) is a repetitive DNA-binding transcription regulator with target sites at CpG-rich sequences such as CGG repeats and Alu-SINEs and L1-LINEs []. CGGBP1 mitigates cytosine methylation at repetitive DNA sequences []. It also functions in DNA damage/repair and telomere metabolism []. There are indications that it may be involved in mRNA metabolism []. CGGBP1 ensures CTCF occupancy preferentially on repeats over canonical CTCF motifs, being a regulator of CTCF and its binding sites in interspersed repeats [].CGGBP1/p20 is known to bind to nonmethylated 5'-d(CGG)(n)-3' trinucleotide repeats in the in the promoter of the fragile X messenger ribonucleoprotein 1 (FMR1/FMRP) gene [, ], although it seems not to have a direct effect on FMR1 transcription []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Miyata H |
Year: |
2016 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Genome engineering uncovers 54 evolutionarily conserved and testis-enriched genes that are not required for male fertility in mice. |
Volume: |
113 |
Issue: |
28 |
Pages: |
7704-10 |
|
•
•
•
•
•
|
Publication |
First Author: |
Li J |
Year: |
2017 |
Journal: |
Nat Neurosci |
Title: |
Spatiotemporal profile of postsynaptic interactomes integrates components of complex brain disorders. |
Volume: |
20 |
Issue: |
8 |
Pages: |
1150-1161 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics and the Consortium: Deciphering the Mechanisms of Developmental Disorders (DMDD) |
Year: |
2017 |
Journal: |
Database Release |
Title: |
Obtaining and Loading Phenotype Annotations from Deciphering the Mechanisms of Developmental Disorders (DMDD) |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Oostra BA |
Year: |
1997 |
Journal: |
Ann Med |
Title: |
Animal model for fragile X syndrome. |
Volume: |
29 |
Issue: |
6 |
Pages: |
563-7 |
|
•
•
•
•
•
|
Publication |
First Author: |
Zarnescu DC |
Year: |
2005 |
Journal: |
Dev Cell |
Title: |
Fragile X protein functions with lgl and the par complex in flies and mice. |
Volume: |
8 |
Issue: |
1 |
Pages: |
43-52 |
|
•
•
•
•
•
|
Publication |
First Author: |
Jasińska M |
Year: |
2016 |
Journal: |
Mol Neurobiol |
Title: |
miR-132 Regulates Dendritic Spine Structure by Direct Targeting of Matrix Metalloproteinase 9 mRNA. |
Volume: |
53 |
Issue: |
7 |
Pages: |
4701-12 |
|
•
•
•
•
•
|
Publication |
First Author: |
Lewis HA |
Year: |
1999 |
Journal: |
Structure |
Title: |
Crystal structures of Nova-1 and Nova-2 K-homology RNA-binding domains. |
Volume: |
7 |
Issue: |
2 |
Pages: |
191-203 |
|
•
•
•
•
•
|
Publication |
First Author: |
GarcÃa-Mayoral MF |
Year: |
2007 |
Journal: |
Structure |
Title: |
The structure of the C-terminal KH domains of KSRP reveals a noncanonical motif important for mRNA degradation. |
Volume: |
15 |
Issue: |
4 |
Pages: |
485-98 |
|
•
•
•
•
•
|
Publication |
First Author: |
Matus-Ortega ME |
Year: |
2007 |
Journal: |
Biochim Biophys Acta |
Title: |
The KH and S1 domains of Escherichia coli polynucleotide phosphorylase are necessary for autoregulation and growth at low temperature. |
Volume: |
1769 |
Issue: |
3 |
Pages: |
194-203 |
|
•
•
•
•
•
|
Publication |
First Author: |
Oddone A |
Year: |
2007 |
Journal: |
EMBO Rep |
Title: |
Structural and biochemical characterization of the yeast exosome component Rrp40. |
Volume: |
8 |
Issue: |
1 |
Pages: |
63-9 |
|
•
•
•
•
•
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Publication |
First Author: |
Gloor BP |
Year: |
1975 |
Journal: |
Mod Probl Ophthalmol |
Title: |
[Transport of 131I-hippuric acid and 22Na from the space between retina and pigment epithelium after experimental amotio]. |
Volume: |
15 |
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Pages: |
115-8 |
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Publication |
First Author: |
Kruse C |
Year: |
2003 |
Journal: |
Cell Mol Life Sci |
Title: |
The multi-KH protein vigilin associates with free and membrane-bound ribosomes. |
Volume: |
60 |
Issue: |
10 |
Pages: |
2219-27 |
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Protein Domain |
Type: |
Domain |
Description: |
The K homology (KH) domain was first identified in the human heterogeneous nuclear ribonucleoprotein (hnRNP) K. An evolutionarily conserved sequence of around 70 amino acids, the KH domain is present in a wide variety of nucleic acid-binding proteins. The KH domain binds RNA, and can function in RNA recognition []. It is found in multiple copies in several proteins, where they can function cooperatively or independently. For example, in the AU-rich element RNA-binding protein KSRP, which has 4 KH domains, KH domains 3 and 4 behave as independent binding modules to interact with different regions of the AU-rich RNA targets []. The solution structure of the first KH domain of FMR1 []and of the C-terminal KH domain of hnRNP K []determined by nuclear magnetic resonance(NMR) revealed a β-α-α-β-β-α structure. Proteins containing KH domains include:Bacterial and organelle PNPases [].Archaeal and eukaryotic exosome subunits [].Eukaryotic and prokaryotic RS3 ribosomal proteins [].Vertebrate Fragile X messenger ribonucleoprotein 1 (FMR1) [].Vigilin, which has 14 KH domains [].AU-rich element RNA-binding protein KSRP.hnRNP K, which contains 3 KH domains.Human onconeural ventral antigen-1 (NOVA-1) [].According to structural analyses [, , ], the KH domain can be separated in two groups - type 1 and type 2. |
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Publication |
First Author: |
Wei N |
Year: |
2015 |
Journal: |
Cell Rep |
Title: |
SRSF10 Plays a Role in Myoblast Differentiation and Glucose Production via Regulation of Alternative Splicing. |
Volume: |
13 |
Issue: |
8 |
Pages: |
1647-57 |
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Publication |
First Author: |
Hildebrandt MR |
Year: |
2019 |
Journal: |
Dev Biol |
Title: |
Cytoplasmic aggregation of DDX1 in developing embryos: Early embryonic lethality associated with Ddx1 knockout. |
Volume: |
455 |
Issue: |
2 |
Pages: |
420-433 |
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Publication |
First Author: |
Perez-Garcia V |
Year: |
2018 |
Journal: |
Nature |
Title: |
Placentation defects are highly prevalent in embryonic lethal mouse mutants. |
Volume: |
555 |
Issue: |
7697 |
Pages: |
463-468 |
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Publication |
First Author: |
Bensaid M |
Year: |
2009 |
Journal: |
Nucleic Acids Res |
Title: |
FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure. |
Volume: |
37 |
Issue: |
4 |
Pages: |
1269-79 |
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Publication |
First Author: |
Wang H |
Year: |
2009 |
Journal: |
J Biol Chem |
Title: |
Ca2+/calmodulin-dependent protein kinase IV links group I metabotropic glutamate receptors to fragile X mental retardation protein in cingulate cortex. |
Volume: |
284 |
Issue: |
28 |
Pages: |
18953-62 |
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Publication |
First Author: |
Ruth KS |
Year: |
2021 |
Journal: |
Nature |
Title: |
Genetic insights into biological mechanisms governing human ovarian ageing. |
Volume: |
596 |
Issue: |
7872 |
Pages: |
393-397 |
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Publication |
First Author: |
Michaelson JJ |
Year: |
2017 |
Journal: |
Biol Psychiatry |
Title: |
Neuronal PAS Domain Proteins 1 and 3 Are Master Regulators of Neuropsychiatric Risk Genes. |
Volume: |
82 |
Issue: |
3 |
Pages: |
213-223 |
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Publication |
First Author: |
Padmashri R |
Year: |
2013 |
Journal: |
J Neurosci |
Title: |
Altered structural and functional synaptic plasticity with motor skill learning in a mouse model of fragile X syndrome. |
Volume: |
33 |
Issue: |
50 |
Pages: |
19715-23 |
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Publication |
First Author: |
Hashem V |
Year: |
2009 |
Journal: |
Hum Mol Genet |
Title: |
Ectopic expression of CGG containing mRNA is neurotoxic in mammals. |
Volume: |
18 |
Issue: |
13 |
Pages: |
2443-51 |
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Publication |
First Author: |
Yao B |
Year: |
2014 |
Journal: |
Hum Mol Genet |
Title: |
Genome-wide alteration of 5-hydroxymethylcytosine in a mouse model of fragile X-associated tremor/ataxia syndrome. |
Volume: |
23 |
Issue: |
4 |
Pages: |
1095-107 |
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Publication |
First Author: |
Torossian A |
Year: |
2021 |
Journal: |
Neurobiol Dis |
Title: |
Increased rates of cerebral protein synthesis in Shank3 knockout mice: Implications for a link between synaptic protein deficit and dysregulated protein synthesis in autism spectrum disorder/intellectual disability. |
Volume: |
148 |
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Pages: |
105213 |
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Publication |
First Author: |
Gu Y |
Year: |
2003 |
Journal: |
Cytogenet Genome Res |
Title: |
FMR2 function: insight from a mouse knockout model. |
Volume: |
100 |
Issue: |
1-4 |
Pages: |
129-39 |
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Publication |
First Author: |
Gabel LA |
Year: |
2004 |
Journal: |
J Neurosci |
Title: |
Visual experience regulates transient expression and dendritic localization of fragile X mental retardation protein. |
Volume: |
24 |
Issue: |
47 |
Pages: |
10579-83 |
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Publication |
First Author: |
Liu J |
Year: |
2012 |
Journal: |
Hum Mol Genet |
Title: |
Signaling defects in iPSC-derived fragile X premutation neurons. |
Volume: |
21 |
Issue: |
17 |
Pages: |
3795-805 |
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Publication |
First Author: |
Lu C |
Year: |
2012 |
Journal: |
Hum Mol Genet |
Title: |
Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice. |
Volume: |
21 |
Issue: |
23 |
Pages: |
5039-47 |
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Publication |
First Author: |
Metsu S |
Year: |
2014 |
Journal: |
PLoS Genet |
Title: |
FRA2A is a CGG repeat expansion associated with silencing of AFF3. |
Volume: |
10 |
Issue: |
4 |
Pages: |
e1004242 |
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Publication |
First Author: |
Zhou LT |
Year: |
2017 |
Journal: |
Neuroscience |
Title: |
A novel role of fragile X mental retardation protein in pre-mRNA alternative splicing through RNA-binding protein 14. |
Volume: |
349 |
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Pages: |
64-75 |
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Publication |
First Author: |
Ramaiah M |
Year: |
2019 |
Journal: |
EMBO Rep |
Title: |
A microRNA cluster in the Fragile-X region expressed during spermatogenesis targets FMR1. |
Volume: |
20 |
Issue: |
2 |
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Publication |
First Author: |
Zhao X |
Year: |
2018 |
Journal: |
PLoS Genet |
Title: |
MutLγ promotes repeat expansion in a Fragile X mouse model while EXO1 is protective. |
Volume: |
14 |
Issue: |
10 |
Pages: |
e1007719 |
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Publication |
First Author: |
Lustyk D |
Year: |
2019 |
Journal: |
Genetics |
Title: |
Genomic Structure of Hstx2 Modifier of Prdm9-Dependent Hybrid Male Sterility in Mice. |
Volume: |
213 |
Issue: |
3 |
Pages: |
1047-1063 |
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Publication |
First Author: |
Kong SW |
Year: |
2014 |
Journal: |
Mol Autism |
Title: |
Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis. |
Volume: |
5 |
Issue: |
1 |
Pages: |
16 |
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