| 1 | EGI7, RORB
|
| Molecular and Phenotypic Characterization of the RORB-Related Disorder
|
| Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G.
|
| Neurology. Jan 23;102(2):e207945. doi: 10.1212/WNL.0000000000207945. Epub 2023 Dec 22. 2024
|
| 2 | KCNAB2, PPFIA1, RORB
|
| Human photoreceptor cells from different macular subregions have distinct transcriptional profiles
|
| Voigt AP, Mullin NK, Whitmore SS, DeLuca AP, Burnight ER, Liu X, Tucker BA, Scheetz TE, Stone EM, Mullins RF.
|
| Hum Mol Genet. Jul 28;30(16):1543-1558. doi: 10.1093/hmg/ddab140 2021
|
| 3 | RORB
|
| . Molecular characterization of selectively vulnerable neurons in Alzheimer's disease
|
| Leng K, Li E, Eser R, Piergies A, Sit R, Tan M, Neff N, Li SH, Rodriguez RD, Suemoto CK, Leite REP, Ehrenberg AJ, Pasqualucci CA, Seeley WW, Spina S, Heinsen H, Grinberg LT, Kampmann M
|
| Nat Neurosci. Feb;24(2):276-287. doi: 10.1038/s41593-020-00764-7. Epub 2021 Jan 11. 2021
|
| 4 | EGI7, RORB
|
| Eyelid myoclonia with absences, intellectual disability and attention deficit hyperactivity disorder: a clinical phenotype of the RORB gene mutation
|
| Morea A, Boero G, Demaio V, Francavilla T, La Neve A.
|
| Neurol Sci. May;42(5):2059-2062. doi: 10.1007/s10072-020-05031-y. Epub 2021 Jan 2. 2021
|
| 5 | EGI7, RORB
|
| Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy
|
| Sadleir LG, de Valles-Ibáñez G, King C, Coleman M, Mossman S, Paterson S, Nguyen J, Berkovic SF, Mullen S, Bahlo M, Hildebrand MS, Mefford HC, Scheffer IE.
|
| Epilepsia. Apr;61(4):e23-e29. doi: 10.1111/epi.16475. Epub 2020 Mar 12. 2020
|
| 6 | RORB, RORC
|
| RORB and RORC associate with human islet dysfunction and inhibit insulin secretion in INS-1 cells.
|
| Taneera J, Mohammed AK, Dhaiban S, Hamad M, Prasad RB, Sulaiman N, Salehi A.
|
| Islets ;11(1):10-20. doi: 10.1080/19382014.2019.1566684. Epub 2019 Feb 14. 2019
|
| 7 | RORB
|
| Rorβ regulates selective axon-target innervation in the mammalian midbrain.
|
| Byun H, Lee HL, Liu H, Forrest D, Rudenko A, Kim IJ.
|
| Development. Jul 22;146(14):dev171926. doi: 10.1242/dev.171926. 2019
|
| 8 | EGI7, RORB
|
| Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy
|
| Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Møller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, Schluth-Bolard C, Sloan-Béna F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P
|
| Eur J Hum Genet. Dec;24(12):1761-1770. doi: 10.1038/ejhg.2016.80. Epub 2016 Jun 29. 2016
|
| 9 | FOXN4, PTF1A, RORB
|
| Tfap2a and 2b act downstream of Ptf1a to promote amacrine cell differentiation during retinogenesis.
|
| Jin K, Jiang H, Xiao D, Zou M, Zhu J, Xiang M.
|
| Mol Brain 8:28. doi: 10.1186/s13041-015-0118-x.
2015
|
| 10 | RORB
|
| Retinoic acid-related orphan receptor RORβ, circadian rhythm abnormalities and tumorigenesis (Review)
|
| Feng S, Xu S, Wen Z, Zhu Y.
|
| Int J Mol Med. Jun;35(6):1493-500. doi: 10.3892/ijmm.2015.2155. Epub 2015 Mar 26. 2015
|
| 11 | FOXN4, PTF1A, RORB
|
| An isoform of retinoid-related orphan receptor β directs differentiation of retinal amacrine and horizontal interneurons.
|
| Liu H, Kim SY, Fu Y, Wu X, Ng L, Swaroop A, Forrest D.
|
| Nat Commun 4:1813. doi: 10.1038/ncomms2793.
2013
|
| 12 | NRL, RORB
|
| Combinatorial regulation of photoreceptor differentiation factor, neural retina leucine zipper gene NRL, revealed by in vivo promoter analysis.
|
| Kautzmann MA, Kim DS, Felder-Schmittbuhl MP, Swaroop A.
|
| J Biol Chem 286(32):28247-55. Epub 2011 Jun 14.
2011
|
| 13 | CRX, NRL, OTX2, RORB
|
| Transcriptional regulation of neural retina leucine zipper (Nrl), a photoreceptor cell fate determinant.
|
| Montana CL, Lawrence KA, Williams NL, Tran NM, Peng GH, Chen S, Corbo JC.
|
| J Biol Chem 286(42):36921-31. doi: 10.1074/jbc.M111.279026. Epub 2011 Aug 24.
2011
|
| 14 | RORB
|
| Evidence for genetic association of RORB with bipolar disorder.
|
| McGrath CL, Glatt SJ, Sklar P, Le-Niculescu H, Kuczenski R, Doyle AE, Biederman J, Mick E, Faraone SV, Niculescu AB, Tsuang MT.
|
| BMC Psychiatry 9:70.
2009
|
| 15 | NRL, RORB
|
| Retinoid-related orphan nuclear receptor RORbeta is an early-acting factor in rod photoreceptor development.
|
| Jia L, Oh EC, Ng L, Srinivas M, Brooks M, Swaroop A, Forrest D.
|
| Proc Natl Acad Sci U S A 106(41):17534-9. Epub 2009 Sep 24.
2009
|
| 16 | RORB
|
| Analysis of area-specific expression patterns of RORbeta, ER81 and Nurr1 mRNAs in rat neocortex by double in situ hybridization and cortical box method.
|
| Hirokawa J, Watakabe A, Ohsawa S, Yamamori T.
|
| PLoS One 3(9):e3266.
2008
|
| 17 | RORB
|
| Behavioral characterization and modulation of circadian rhythms by light and melatonin in C3H/HeN mice homozygous for the RORbeta knockout.
|
| Masana MI, Sumaya IC, Becker-Andre M, Dubocovich ML.
|
| Am J Physiol Regul Integr Comp Physiol 292(6):R2357-67. Epub 2007 Feb 15.
2007
|
| 18 | OPN1SW, RORB
|
| Activation of the blue opsin gene in cone photoreceptor development by retinoid-related orphan receptor beta.
|
| Srinivas M, Ng L, Liu H, Jia L, Forrest D.
|
| Mol Endocrinol 20(8):1728-41. Epub 2006 Mar 30.
2006
|
| 19 | RORB
|
| Rhythmic expression of ROR beta mRNA in the mice suprachiasmatic nucleus.
|
| Sumi Y, Yagita K, Yamaguchi S, Ishida Y, Kuroda Y, Okamura H.
|
| Neurosci Lett 320(1-2):13-6. 2002
|
| 20 | RORB
|
| X-ray structure of the orphan nuclear receptor RORbeta ligand-binding domain in the active conformation.
|
| Stehlin C, Wurtz JM, Steinmetz A, Greiner E, Schüle R, Moras D, Renaud JP.
|
| EMBO J 20(21):5822-31.
2001
|
| 21 | RORA, RORB
|
| Differential binding and transcriptional behaviour of two highly related orphan receptors, ROR alpha(4) and ROR beta(1).
|
| Gawlas K, Stunnenberg HG.
|
| Biochim Biophys Acta 1494(3):236-41. 2000
|
| 22 | RORB
|
| Disruption of retinoid-related orphan receptor beta changes circadian behavior, causes retinal degeneration and leads to vacillans phenotype in mice.
|
| Andre E, et al.
|
| EMBO J 17(14):3867-77 1998
|
| 23 | RORB
|
| RZRs, a new family of retinoid-related orphan receptors that function as both monomers and homodimers.
|
| Carlberg C, et al.
|
| Mol Endocrinol 8(6):757-70 1994
|