These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model. Deml B; Reis LM; Muheisen S; Bick D; Semina EV Birth Defects Res A Clin Mol Teratol; 2015 Jul; 103(7):630-40. PubMed ID: 26118977 [TBL] [Abstract][Full Text] [Related]
5. Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children. Yu KPT; Luk HM; Gordon CT; Fung G; Oufadem M; Garcia-Barcelo MM; Amiel J; Chung BHY; Lo IFM; Tiong YT Clin Dysmorphol; 2018 Apr; 27(2):31-35. PubMed ID: 29381487 [TBL] [Abstract][Full Text] [Related]
6. EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway. Wu J; Yang Y; He Y; Li Q; Wang X; Sun C; Wang L; An Y; Luo F Hum Genomics; 2019 Dec; 13(1):63. PubMed ID: 31806011 [TBL] [Abstract][Full Text] [Related]
7. Zebrafish rbm8a and magoh mutants reveal EJC developmental functions and new 3'UTR intron-containing NMD targets. Gangras P; Gallagher TL; Parthun MA; Yi Z; Patton RD; Tietz KT; Deans NC; Bundschuh R; Amacher SL; Singh G PLoS Genet; 2020 Jun; 16(6):e1008830. PubMed ID: 32502192 [TBL] [Abstract][Full Text] [Related]
8. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Huang L; Vanstone MR; Hartley T; Osmond M; Barrowman N; Allanson J; Baker L; Dabir TA; Dipple KM; Dobyns WB; Estrella J; Faghfoury H; Favaro FP; Goel H; Gregersen PA; Gripp KW; Grix A; Guion-Almeida ML; Harr MH; Hudson C; Hunter AG; Johnson J; Joss SK; Kimball A; Kini U; Kline AD; Lauzon J; Lildballe DL; López-González V; Martinezmoles J; Meldrum C; Mirzaa GM; Morel CF; Morton JE; Pyle LC; Quintero-Rivera F; Richer J; Scheuerle AE; Schönewolf-Greulich B; Shears DJ; Silver J; Smith AC; Temple IK; ; van de Kamp JM; van Dijk FS; Vandersteen AM; White SM; Zackai EH; Zou R; ; Bulman DE; Boycott KM; Lines MA Hum Mutat; 2016 Feb; 37(2):148-54. PubMed ID: 26507355 [TBL] [Abstract][Full Text] [Related]
9. Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53. Beauchamp MC; Djedid A; Bareke E; Merkuri F; Aber R; Tam AS; Lines MA; Boycott KM; Stirling PC; Fish JL; Majewski J; Jerome-Majewska LA Hum Mol Genet; 2021 May; 30(9):739-757. PubMed ID: 33601405 [TBL] [Abstract][Full Text] [Related]
10. Prpf31 is essential for the survival and differentiation of retinal progenitor cells by modulating alternative splicing. Li J; Liu F; Lv Y; Sun K; Zhao Y; Reilly J; Zhang Y; Tu J; Yu S; Liu X; Qin Y; Huang Y; Gao P; Jia D; Chen X; Han Y; Shu X; Luo D; Tang Z; Liu M Nucleic Acids Res; 2021 Feb; 49(4):2027-2043. PubMed ID: 33476374 [TBL] [Abstract][Full Text] [Related]
11. A review of craniofacial disorders caused by spliceosomal defects. Lehalle D; Wieczorek D; Zechi-Ceide RM; Passos-Bueno MR; Lyonnet S; Amiel J; Gordon CT Clin Genet; 2015 Nov; 88(5):405-15. PubMed ID: 25865758 [TBL] [Abstract][Full Text] [Related]
12. Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients. Lehalle D; Gordon CT; Oufadem M; Goudefroye G; Boutaud L; Alessandri JL; Baena N; Baujat G; Baumann C; Boute-Benejean O; Caumes R; Decaestecker C; Gaillard D; Goldenberg A; Gonzales M; Holder-Espinasse M; Jacquemont ML; Lacombe D; Manouvrier-Hanu S; Marlin S; Mathieu-Dramard M; Morin G; Pasquier L; Petit F; Rio M; Smigiel R; Thauvin-Robinet C; Vasiljevic A; Verloes A; Malan V; Munnich A; de Pontual L; Vekemans M; Lyonnet S; Attié-Bitach T; Amiel J Hum Mutat; 2014 Apr; 35(4):478-85. PubMed ID: 24470203 [TBL] [Abstract][Full Text] [Related]
13. prpf4 is essential for cell survival and posterior lateral line primordium migration in zebrafish. Wang Y; Han Y; Xu P; Ding S; Li G; Jin H; Meng Y; Meng A; Jia S J Genet Genomics; 2018 Aug; 45(8):443-453. PubMed ID: 30174136 [TBL] [Abstract][Full Text] [Related]
14. A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly. Yang M; Liu Y; Lin Z; Sun H; Hu T J Clin Lab Anal; 2022 May; 36(5):e24440. PubMed ID: 35435265 [TBL] [Abstract][Full Text] [Related]
15. Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. Voigt C; Mégarbané A; Neveling K; Czeschik JC; Albrecht B; Callewaert B; von Deimling F; Hehr A; Falkenberg Smeland M; König R; Kuechler A; Marcelis C; Puiu M; Reardon W; Riise Stensland HM; Schweiger B; Steehouwer M; Teller C; Martin M; Rahmann S; Hehr U; Brunner HG; Lüdecke HJ; Wieczorek D Orphanet J Rare Dis; 2013 Jul; 8():110. PubMed ID: 23879989 [TBL] [Abstract][Full Text] [Related]
16. Modulation of p53 and met expression by Krüppel-like factor 8 regulates zebrafish cerebellar development. Tsai MY; Lu YF; Liu YH; Lien HW; Huang CJ; Wu JL; Hwang SP Dev Neurobiol; 2015 Sep; 75(9):908-26. PubMed ID: 25528982 [TBL] [Abstract][Full Text] [Related]
17. Splicing factor DHX15 affects tp53 and mdm2 expression via alternate splicing and promoter usage. McElderry J; Carrington B; Bishop K; Kim E; Pei W; Chen Z; Ramanagoudr-Bhojappa R; Prakash A; Burgess SM; Liu PP; Sood R Hum Mol Genet; 2019 Dec; 28(24):4173-4185. PubMed ID: 31691804 [TBL] [Abstract][Full Text] [Related]
18. Spliceosomal components protect embryonic neurons from R-loop-mediated DNA damage and apoptosis. Sorrells S; Nik S; Casey MJ; Cameron RC; Truong H; Toruno C; Gulfo M; Lowe A; Jette C; Stewart RA; Bowman TV Dis Model Mech; 2018 Feb; 11(2):. PubMed ID: 29419415 [TBL] [Abstract][Full Text] [Related]
19. Craniofacial Defects in Embryos with Homozygous Deletion of Beauchamp MC; Boucher A; Dong Y; Aber R; Jerome-Majewska LA Int J Mol Sci; 2022 Aug; 23(16):. PubMed ID: 36012294 [TBL] [Abstract][Full Text] [Related]