345 related articles for article (PubMed ID: 32135084)
1. Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development.
Lennox AL; Hoye ML; Jiang R; Johnson-Kerner BL; Suit LA; Venkataramanan S; Sheehan CJ; Alsina FC; Fregeau B; Aldinger KA; Moey C; Lobach I; Afenjar A; Babovic-Vuksanovic D; Bézieau S; Blackburn PR; Bunt J; Burglen L; Campeau PM; Charles P; Chung BHY; Cogné B; Curry C; D'Agostino MD; Di Donato N; Faivre L; Héron D; Innes AM; Isidor B; Keren B; Kimball A; Klee EW; Kuentz P; Küry S; Martin-Coignard D; Mirzaa G; Mignot C; Miyake N; Matsumoto N; Fujita A; Nava C; Nizon M; Rodriguez D; Blok LS; Thauvin-Robinet C; Thevenon J; Vincent M; Ziegler A; Dobyns W; Richards LJ; Barkovich AJ; Floor SN; Silver DL; Sherr EH
Neuron; 2020 May; 106(3):404-420.e8. PubMed ID: 32135084
[TBL] [Abstract][Full Text] [Related]
2. Aberrant cortical development is driven by impaired cell cycle and translational control in a
Hoye ML; Calviello L; Poff AJ; Ejimogu NE; Newman CR; Montgomery MD; Ou J; Floor SN; Silver DL
Elife; 2022 Jun; 11():. PubMed ID: 35762573
[TBL] [Abstract][Full Text] [Related]
3. A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report.
Moresco G; Costanza J; Santaniello C; Rondinone O; Grilli F; Prada E; Orcesi S; Coro I; Pichiecchio A; Marchisio P; Miozzo M; Fontana L; Milani D
Ital J Pediatr; 2021 Mar; 47(1):81. PubMed ID: 33789733
[TBL] [Abstract][Full Text] [Related]
4. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Snijders Blok L; Madsen E; Juusola J; Gilissen C; Baralle D; Reijnders MR; Venselaar H; Helsmoortel C; Cho MT; Hoischen A; Vissers LE; Koemans TS; Wissink-Lindhout W; Eichler EE; Romano C; Van Esch H; Stumpel C; Vreeburg M; Smeets E; Oberndorff K; van Bon BW; Shaw M; Gecz J; Haan E; Bienek M; Jensen C; Loeys BL; Van Dijck A; Innes AM; Racher H; Vermeer S; Di Donato N; Rump A; Tatton-Brown K; Parker MJ; Henderson A; Lynch SA; Fryer A; Ross A; Vasudevan P; Kini U; Newbury-Ecob R; Chandler K; Male A; ; Dijkstra S; Schieving J; Giltay J; van Gassen KL; Schuurs-Hoeijmakers J; Tan PL; Pediaditakis I; Haas SA; Retterer K; Reed P; Monaghan KG; Haverfield E; Natowicz M; Myers A; Kruer MC; Stein Q; Strauss KA; Brigatti KW; Keating K; Burton BK; Kim KH; Charrow J; Norman J; Foster-Barber A; Kline AD; Kimball A; Zackai E; Harr M; Fox J; McLaughlin J; Lindstrom K; Haude KM; van Roozendaal K; Brunner H; Chung WK; Kooy RF; Pfundt R; Kalscheuer V; Mehta SG; Katsanis N; Kleefstra T
Am J Hum Genet; 2015 Aug; 97(2):343-52. PubMed ID: 26235985
[TBL] [Abstract][Full Text] [Related]
5. De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
Nicola P; Blackburn PR; Rasmussen KJ; Bertsch NL; Klee EW; Hasadsri L; Pichurin PN; Rankin J; Raymond FL; ; Clayton-Smith J
Am J Med Genet A; 2019 Apr; 179(4):570-578. PubMed ID: 30734472
[TBL] [Abstract][Full Text] [Related]
6. Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.
Parra A; Pascual P; Cazalla M; Arias P; Gallego-Zazo N; San-Martín EA; Silván C; Santos-Simarro F; ; Nevado J; Tenorio-Castano J; Lapunzina P
Clin Genet; 2024 Feb; 105(2):140-149. PubMed ID: 37904618
[TBL] [Abstract][Full Text] [Related]
7. A comprehensive review on DDX3X liquid phase condensation in health and neurodevelopmental disorders.
Rosa E Silva I; Smetana JHC; de Oliveira JF
Int J Biol Macromol; 2024 Feb; 259(Pt 2):129330. PubMed ID: 38218270
[TBL] [Abstract][Full Text] [Related]
8. A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.
Kellaris G; Khan K; Baig SM; Tsai IC; Zamora FM; Ruggieri P; Natowicz MR; Katsanis N
Hum Genomics; 2018 Mar; 12(1):11. PubMed ID: 29490693
[TBL] [Abstract][Full Text] [Related]
9. Unwind and Relax: DDX3X RNA Helicase as a Critical Mediator of Cortical Neurogenesis.
Vuocolo B; Holder JL
Neuron; 2020 May; 106(3):357-358. PubMed ID: 32380046
[TBL] [Abstract][Full Text] [Related]
10. Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.
Scala M; Torella A; Severino M; Morana G; Castello R; Accogli A; Verrico A; Vari MS; Cappuccio G; Pinelli M; Vitiello G; Terrone G; D'Amico A; ; Nigro V; Capra V
Eur J Hum Genet; 2019 Aug; 27(8):1254-1259. PubMed ID: 30936465
[TBL] [Abstract][Full Text] [Related]
11. Mutations in genes encoding regulators of mRNA decapping and translation initiation: links to intellectual disability.
Weil D; Piton A; Lessel D; Standart N
Biochem Soc Trans; 2020 Jun; 48(3):1199-1211. PubMed ID: 32412080
[TBL] [Abstract][Full Text] [Related]
12. Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome.
Boitnott A; Garcia-Forn M; Ung DC; Niblo K; Mendonca D; Park Y; Flores M; Maxwell S; Ellegood J; Qiu LR; Grice DE; Lerch JP; Rasin MR; Buxbaum JD; Drapeau E; De Rubeis S
Biol Psychiatry; 2021 Dec; 90(11):742-755. PubMed ID: 34344536
[TBL] [Abstract][Full Text] [Related]
13. Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Paine I; Posey JE; Grochowski CM; Jhangiani SN; Rosenheck S; Kleyner R; Marmorale T; Yoon M; Wang K; Robison R; Cappuccio G; Pinelli M; Magli A; Coban Akdemir Z; Hui J; Yeung WL; Wong BKY; Ortega L; Bekheirnia MR; Bierhals T; Hempel M; Johannsen J; Santer R; Aktas D; Alikasifoglu M; Bozdogan S; Aydin H; Karaca E; Bayram Y; Ityel H; Dorschner M; White JJ; Wilichowski E; Wortmann SB; Casella EB; Kitajima JP; Kok F; Monteiro F; Muzny DM; Bamshad M; Gibbs RA; Sutton VR; ; Van Esch H; Brunetti-Pierri N; Hildebrandt F; Brautbar A; Van den Veyver IB; Glass I; Lessel D; Lyon GJ; Lupski JR
Am J Hum Genet; 2019 Aug; 105(2):302-316. PubMed ID: 31256877
[TBL] [Abstract][Full Text] [Related]
14. The variant landscape and function of DDX3X in cancer and neurodevelopmental disorders.
Gadek M; Sherr EH; Floor SN
Trends Mol Med; 2023 Sep; 29(9):726-739. PubMed ID: 37422363
[TBL] [Abstract][Full Text] [Related]
15. Medulloblastoma-associated mutations in the DEAD-box RNA helicase DDX3X/DED1 cause specific defects in translation.
Brown NP; Vergara AM; Whelan AB; Guerra P; Bolger TA
J Biol Chem; 2021; 296():100296. PubMed ID: 33460649
[TBL] [Abstract][Full Text] [Related]
16. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Balak C; Benard M; Schaefer E; Iqbal S; Ramsey K; Ernoult-Lange M; Mattioli F; Llaci L; Geoffroy V; Courel M; Naymik M; Bachman KK; Pfundt R; Rump P; Ter Beest J; Wentzensen IM; Monaghan KG; McWalter K; Richholt R; Le Béchec A; Jepsen W; De Both M; Belnap N; Boland A; Piras IS; Deleuze JF; Szelinger S; Dollfus H; Chelly J; Muller J; Campbell A; Lal D; Rangasamy S; Mandel JL; Narayanan V; Huentelman M; Weil D; Piton A
Am J Hum Genet; 2019 Sep; 105(3):509-525. PubMed ID: 31422817
[TBL] [Abstract][Full Text] [Related]
17. The Viral Protein K7 Inhibits Biochemical Activities and Condensate Formation by the DEAD-box Helicase DDX3X.
Venus S; Tandjigora K; Jankowsky E
J Mol Biol; 2023 Oct; 435(19):168217. PubMed ID: 37517790
[TBL] [Abstract][Full Text] [Related]
18. Cancer-associated DDX3X mutations drive stress granule assembly and impair global translation.
Valentin-Vega YA; Wang YD; Parker M; Patmore DM; Kanagaraj A; Moore J; Rusch M; Finkelstein D; Ellison DW; Gilbertson RJ; Zhang J; Kim HJ; Taylor JP
Sci Rep; 2016 May; 6():25996. PubMed ID: 27180681
[TBL] [Abstract][Full Text] [Related]
19. DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care.
Levy T; Siper PM; Lerman B; Halpern D; Zweifach J; Belani P; Thurm A; Kleefstra T; Berry-Kravis E; Buxbaum JD; Grice DE
Pediatr Neurol; 2023 Jan; 138():87-94. PubMed ID: 36434914
[TBL] [Abstract][Full Text] [Related]
20. Biochemical Differences and Similarities between the DEAD-Box Helicase Orthologs DDX3X and Ded1p.
Sharma D; Putnam AA; Jankowsky E
J Mol Biol; 2017 Nov; 429(23):3730-3742. PubMed ID: 29037760
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]