| Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and the RBFOX1 Gene. | Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and the RBFOX1 Gene.
Kostic M, Raymond JJ, Freyre CAC, Henry B, Tumkaya T, Khlghatyan J, Dvornik J, Li J, Hsiao JS, Cheon SH, Chung J, Sun Y, Dolmetsch RE, Worringer KA, Ihry RJ., Free PMC Article | 11/18/2023 |
| Behavioural and functional evidence revealing the role of RBFOX1 variation in multiple psychiatric disorders and traits. | Behavioural and functional evidence revealing the role of RBFOX1 variation in multiple psychiatric disorders and traits.
O'Leary A, Fernàndez-Castillo N, Gan G, Yang Y, Yotova AY, Kranz TM, Grünewald L, Freudenberg F, Antón-Galindo E, Cabana-Domínguez J, Harneit A, Schweiger JI, Schwarz K, Ma R, Chen J, Schwarz E, Rietschel M, Tost H, Meyer-Lindenberg A, Pané-Farré CA, Kircher T, Hamm AO, Burguera D, Mota NR, Franke B, Schweiger S, Winter J, Heinz A, Erk S, Romanczuk-Seiferth N, Walter H, Ströhle A, Fehm L, Fydrich T, Lueken U, Weber H, Lang T, Gerlach AL, Nöthen MM, Alpers GW, Arolt V, Witt S, Richter J, Straube B, Cormand B, Slattery DA, Reif A., Free PMC Article | 01/11/2023 |
| Low-grade oncocytic renal tumor (LOT): mutations in mTOR pathway genes and low expression of FOXI1. | Low-grade oncocytic renal tumor (LOT): mutations in mTOR pathway genes and low expression of FOXI1.
Morini A, Drossart T, Timsit MO, Sibony M, Vasiliu V, Gimenez-Roqueplo AP, Favier J, Badoual C, Mejean A, Burnichon N, Verkarre V. | 04/9/2022 |
| Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With GRIN2A, RBFOX1, or RBFOX3 Gene Variants. | Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With GRIN2A, RBFOX1, or RBFOX3 Gene Variants.
Tascón-Arcila J, Rojas-Jiménez S, Cornejo-Sánchez D, Gómez-Builes P, Ucroz-Benavides A, Holguín BM, Restrepo-Arbeláez D, Gómez-Castillo C, Solarte-Mia R, Cornejo-Ochoa W, Pineda-Trujillo N. | 02/26/2022 |
| RNA-binding proteins in neurological development and disease. | RNA-binding proteins in neurological development and disease.
Prashad S, Gopal PP., Free PMC Article | 01/1/2022 |
| Association Between Common Variants in RBFOX1, an RNA-Binding Protein, and Brain Amyloidosis in Early and Preclinical Alzheimer Disease. | Association Between Common Variants in RBFOX1, an RNA-Binding Protein, and Brain Amyloidosis in Early and Preclinical Alzheimer Disease.
Raghavan NS, Dumitrescu L, Mormino E, Mahoney ER, Lee AJ, Gao Y, Bilgel M, Goldstein D, Harrison T, Engelman CD, Saykin AJ, Whelan CD, Liu JZ, Jagust W, Albert M, Johnson SC, Yang HS, Johnson K, Aisen P, Resnick SM, Sperling R, De Jager PL, Schneider J, Bennett DA, Schrag M, Vardarajan B, Hohman TJ, Mayeux R, Alzheimer’s Disease Neuroimaging Initiative., Free PMC Article | 06/26/2021 |
| Genetics of Gene Expression in the Aging Human Brain Reveal TDP-43 Proteinopathy Pathophysiology. | Genetics of Gene Expression in the Aging Human Brain Reveal TDP-43 Proteinopathy Pathophysiology.
Yang HS, White CC, Klein HU, Yu L, Gaiteri C, Ma Y, Felsky D, Mostafavi S, Petyuk VA, Sperling RA, Ertekin-Taner N, Schneider JA, Bennett DA, De Jager PL., Free PMC Article | 10/24/2020 |
| From Rare Copy Number Variants to Biological Processes in ADHD. | From Rare Copy Number Variants to Biological Processes in ADHD.
Harich B, van der Voet M, Klein M, Čížek P, Fenckova M, Schenck A, Franke B. | 10/10/2020 |
| The SNPs rs4787050 and rs8045980 showed a significant association with susceptibility to lung cancer. Moreover, cooking oil fume exposure was found to increase the risk of lung cancer. | Polymorphisms of rs4787050 and rs8045980 are associated with lung cancer risk in northeast Chinese female nonsmokers.
Li X, Li X, Yin Z, Jiang M, Tian W, Tang M, Zhou B. | 07/4/2020 |
| this study shows that RBFOX1 is a susceptibility gene for an outbreak of hydrolyzed wheat allergy in Japan | HLA-DQ and RBFOX1 as susceptibility genes for an outbreak of hydrolyzed wheat allergy.
Noguchi E, Akiyama M, Yagami A, Hirota T, Okada Y, Kato Z, Kishikawa R, Fukutomi Y, Hide M, Morita E, Aihara M, Hiragun M, Chinuki Y, Okabe T, Ito A, Adachi A, Fukunaga A, Kubota Y, Aoki T, Aoki Y, Nishioka K, Adachi T, Kanazawa N, Miyazawa H, Sakai H, Kozuka T, Kitamura H, Hashizume H, Kanegane C, Masuda K, Sugiyama K, Tokuda R, Furuta J, Higashimoto I, Kato A, Seishima M, Tajiri A, Tomura A, Taniguchi H, Kojima H, Tanaka H, Sakai A, Morii W, Nakamura M, Kamatani Y, Takahashi A, Kubo M, Tamari M, Saito H, Matsunaga K. | 06/20/2020 |
| RNA-binding protein (RBFOX1) inherited polymorphism rs8051518 is not associated with splice factor mutations in myelodysplastic syndromes and myeloproliferative neoplasms. | RNA-binding protein (RBFOX1) inherited polymorphism rs8051518 is not associated with splice factor mutations in myelodysplastic syndromes and myeloproliferative neoplasms.
Faisal M, Büsche G, Schlue J, Kreipe H, Lehmann U, Bartels S. | 04/27/2019 |
| RBFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences. | rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.
Sellier C, Cerro-Herreros E, Blatter M, Freyermuth F, Gaucherot A, Ruffenach F, Sarkar P, Puymirat J, Udd B, Day JW, Meola G, Bassez G, Fujimura H, Takahashi MP, Schoser B, Furling D, Artero R, Allain FHT, Llamusi B, Charlet-Berguerand N., Free PMC Article | 12/22/2018 |
| Low RBFOX1 expression is associated with aberrant splicing in Type 1 diabetes. | Ancient antagonism between CELF and RBFOX families tunes mRNA splicing outcomes.
Gazzara MR, Mallory MJ, Roytenberg R, Lindberg JP, Jha A, Lynch KW, Barash Y., Free PMC Article | 06/2/2018 |
| Data show that while RBFOX1 and RBFOX2 do not mediate neuron-specific processing of UBE3A-ATS, these proteins play important roles in developing neurons and are not completely functionally redundant. | RBFOX1 and RBFOX2 are dispensable in iPSCs and iPSC-derived neurons and do not contribute to neural-specific paternal UBE3A silencing.
Chen PF, Hsiao JS, Sirois CL, Chamberlain SJ., Free PMC Article | 02/24/2018 |
| RBFOX1 - strong candidate gene, associated with clinical features of Depression (e.g., earlier age at onset and recurrent and more severe forms of Depression). Gene expression patterns in the prefrontal and anterior cingulate cortex most closely matched the genetic findings. | Psychiatric Genomics: An Update and an Agenda.
Sullivan PF, Agrawal A, Bulik CM, Andreassen OA, Børglum AD, Breen G, Cichon S, Edenberg HJ, Faraone SV, Gelernter J, Mathews CA, Nievergelt CM, Smoller JW, O'Donovan MC, Psychiatric Genomics Consortium., Free PMC Article | 02/10/2018 |
| Our findings suggested rs17648524 (intronic RBFOX1 gene) and rs7084402 (7.5kb 5' of the BICC1 gene) showed gender-specific associations with high myopia in the Han Chinese. | Evaluation of genome-wide susceptibility loci for high myopia in a Han Chinese population.
Li F, Ye Z, Zhai Y, Gong B, Jiang L, Wu H, Lin Y, Wan L, Yang Z, Shi Y, Wu Z. | 12/2/2017 |
| Report a 1.8 A X-ray structure of the free Fox-1 containing six distinct monomers. We use this and the nuclear magnetic resonance (NMR) structure of the Fox-1 protein/RNA complex for molecular dynamics (MD) analyses of the structured hydration. The individual monomers of the X-ray structure show diverse hydration patterns, however, MD excellently reproduces the most occupied hydration sites. | Structural study of the Fox-1 RRM protein hydration reveals a role for key water molecules in RRM-RNA recognition.
Krepl M, Blatter M, Cléry A, Damberger FF, Allain FHT, Sponer J., Free PMC Article | 10/14/2017 |
| Copy-number variations are enriched for RBFOX1 and other neurodevelopmental genes in children with developmental coordination disorder. | Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Mosca SJ, Langevin LM, Dewey D, Innes AM, Lionel AC, Marshall CC, Scherer SW, Parboosingh JS, Bernier FP. | 08/26/2017 |
| We present a joint atomistic molecular dynamics (MD) and experimental study of two RRM-containing proteins bound with their single-stranded target RNAs, namely the Fox-1 and SRSF1 complexes.The simulations predict unanticipated specific participation of Arg142 at the protein-RNA interface of the SRFS1 complex, which is subsequently confirmed by NMR and ITC measurements | Synergy between NMR measurements and MD simulations of protein/RNA complexes: application to the RRMs, the most common RNA recognition motifs.
Krepl M, Cléry A, Blatter M, Allain FH, Sponer J., Free PMC Article | 06/24/2017 |
| FGF12, RBFOX1, and MIR302F could be important in human heterotaxy, because they were noted in multiple cases. Further investigation into genes involved in the NODAL, BMP, and WNT body patterning pathways and into the dosage effects of FGF12, RBFOX1, and MIR302F is warranted. | Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.
Hagen EM, Sicko RJ, Kay DM, Rigler SL, Dimopoulos A, Ahmad S, Doleman MH, Fan R, Romitti PA, Browne ML, Caggana M, Brody LC, Shaw GM, Jelliffe-Pawlowski LL, Mills JL., Free PMC Article | 06/24/2017 |
| Data indicate that multiple rare, coding variants in RBFOX1 protein associated with reduced systolic blood pressure (SBP). | Rare variants in fox-1 homolog A (RBFOX1) are associated with lower blood pressure.
He KY, Wang H, Cade BE, Nandakumar P, Giri A, Ware EB, Haessler J, Liang J, Smith JA, Franceschini N, Le TH, Kooperberg C, Edwards TL, Kardia SL, Lin X, Chakravarti A, Redline S, Zhu X., Free PMC Article | 06/10/2017 |
| study identifies regulation of RNA splicing by RBFox1 as an important player in transcriptome reprogramming during heart failure that influence pathogenesis of the disease | RBFox1-mediated RNA splicing regulates cardiac hypertrophy and heart failure.
Gao C, Ren S, Lee JH, Qiu J, Chapski DJ, Rau CD, Zhou Y, Abdellatif M, Nakano A, Vondriska TM, Xiao X, Fu XD, Chen JN, Wang Y., Free PMC Article | 06/28/2016 |
| The SNP rs1478697 in A2BP1 may be associated with antipsychotic induced weight gain induced by 8-week treatment with olanzapine. | A2BP1 gene polymorphisms association with olanzapine-induced weight gain.
Dong L, Yan H, Huang X, Hu X, Yang Y, Ma C, Du B, Lu T, Jin C, Wang L, Yu H, Dong Z, Li W, Ruan Y, Zhang H, Zhang H, Mi W, Ma W, Li K, Lv L, Zhang D, Yue W. | 06/28/2016 |
| This study underlines that tightly regulated splicing is necessary for unconstrained cardiac function and renders the splicing regulator rbfox1 an interesting target for investigation in human heart failure and cardiomyopathy. | RNA splicing regulated by RBFOX1 is essential for cardiac function in zebrafish.
Frese KS, Meder B, Keller A, Just S, Haas J, Vogel B, Fischer S, Backes C, Matzas M, Köhler D, Benes V, Katus HA, Rottbauer W., Free PMC Article | 06/4/2016 |
| Cytoplasmic Rbfox1 target mRNAs were enriched in genes involved in cortical development and autism | Cytoplasmic Rbfox1 Regulates the Expression of Synaptic and Autism-Related Genes.
Lee JA, Damianov A, Lin CH, Fontes M, Parikshak NN, Anderson ES, Geschwind DH, Black DL, Martin KC., Free PMC Article | 05/28/2016 |