145 related articles for article (PubMed ID: 35087184)
1. A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development.
Rahikkala E; Urpa L; Ghimire B; Topa H; Kurki MI; Koskela M; Airavaara M; Hämäläinen E; Pylkäs K; Körkkö J; Savolainen H; Suoranta A; Bertoli-Avella A; Rolfs A; Mattila P; Daly M; Palotie A; Pietiläinen O; Moilanen J; Kuismin O
Eur J Hum Genet; 2022 May; 30(5):619-627. PubMed ID: 35087184
[TBL] [Abstract][Full Text] [Related]
2. Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.
Abdel-Salam GMH; Duan R; Abdel-Hamid MS; Sayed ISM; Jhangiani SN; Khan Z; Du H; Gibbs RA; Posey JE; Marafi D; Lupski JR
Am J Med Genet A; 2022 Feb; 188(2):648-657. PubMed ID: 34761517
[TBL] [Abstract][Full Text] [Related]
3. Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.
Alzahrani F; Kuwahara H; Long Y; Al-Owain M; Tohary M; AlSayed M; Mahnashi M; Fathi L; Alnemer M; Al-Hamed MH; Lemire G; Boycott KM; Hashem M; Han W; Al-Maawali A; Al Mahrizi F; Al-Thihli K; Gao X; Alkuraya FS
Am J Hum Genet; 2020 Dec; 107(6):1178-1185. PubMed ID: 33242396
[TBL] [Abstract][Full Text] [Related]
4. Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing.
Yang Q; Qin Z; Zhang Q; Yi S; Yi S; Luo J
BMC Med Genomics; 2022 Mar; 15(1):67. PubMed ID: 35321723
[TBL] [Abstract][Full Text] [Related]
5. MicroRNA 4651 regulates nonsense-mediated mRNA decay by targeting SMG9 mRNA.
Tan Y; Ma Z; Jin Y; Zong R; Wu J; Ren Z
Gene; 2019 Jun; 701():65-71. PubMed ID: 30902786
[TBL] [Abstract][Full Text] [Related]
6. Effect of nonsense-mediated mRNA decay factor SMG9 deficiency on premature aging in zebrafish.
Lai S; Shiraishi H; Sebastian WA; Shimizu N; Umeda R; Ikeuchi M; Kiyota K; Takeno T; Miyazaki S; Yano S; Shimada T; Yoshimura A; Hanada R; Hanada T
Commun Biol; 2024 May; 7(1):654. PubMed ID: 38806677
[TBL] [Abstract][Full Text] [Related]
7. Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.
Shaheen R; Anazi S; Ben-Omran T; Seidahmed MZ; Caddle LB; Palmer K; Ali R; Alshidi T; Hagos S; Goodwin L; Hashem M; Wakil SM; Abouelhoda M; Colak D; Murray SA; Alkuraya FS
Am J Hum Genet; 2016 Apr; 98(4):643-52. PubMed ID: 27018474
[TBL] [Abstract][Full Text] [Related]
8. Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.
Lecoquierre F; Bonnevalle A; Chadie A; Gayet C; Dumant-Forest C; Renaux-Petel M; Leca JB; Hazelzet T; Brasseur-Daudruy M; Louillet F; Muraine M; Coutant S; Quenez O; Boland A; Deleuze JF; Frebourg T; Goldenberg A; Saugier-Veber P; Guerrot AM; Nicolas G
Am J Med Genet A; 2019 Nov; 179(11):2257-2262. PubMed ID: 31390136
[TBL] [Abstract][Full Text] [Related]
9. The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans.
Bai J; Qu Y; Cao Y; Yang L; Ge L; Jin Y; Wang H; Song F
Gene; 2018 Feb; 644():49-55. PubMed ID: 29080838
[TBL] [Abstract][Full Text] [Related]
10. Structure of a SMG8-SMG9 complex identifies a G-domain heterodimer in the NMD effector proteins.
Li L; Lingaraju M; Basquin C; Basquin J; Conti E
RNA; 2017 Jul; 23(7):1028-1034. PubMed ID: 28389433
[TBL] [Abstract][Full Text] [Related]
11. Bi-allelic
Rasheed A; Gumus E; Zaki M; Johnson K; Manzoor H; LaForce G; Ross D; McEvoy-Venneri J; Stanley V; Lee S; Virani A; Ben-Omran T; Gleeson JG; Naz S; Schaffer A
J Med Genet; 2021 Apr; 58(4):237-246. PubMed ID: 32439809
[TBL] [Abstract][Full Text] [Related]
12. Homozygous KIDINS220 loss-of-function variants in fetuses with cerebral ventriculomegaly and limb contractures.
Mero IL; Mørk HH; Sheng Y; Blomhoff A; Opheim GL; Erichsen A; Vigeland MD; Selmer KK
Hum Mol Genet; 2017 Oct; 26(19):3792-3796. PubMed ID: 28934391
[TBL] [Abstract][Full Text] [Related]
13. Cryo-EM structure of SMG1-SMG8-SMG9 complex.
Zhu L; Li L; Qi Y; Yu Z; Xu Y
Cell Res; 2019 Dec; 29(12):1027-1034. PubMed ID: 31729466
[TBL] [Abstract][Full Text] [Related]
14. Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Nguyen LS; Kim HG; Rosenfeld JA; Shen Y; Gusella JF; Lacassie Y; Layman LC; Shaffer LG; Gécz J
Hum Mol Genet; 2013 May; 22(9):1816-25. PubMed ID: 23376982
[TBL] [Abstract][Full Text] [Related]
15. A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.
Abdullah ; Shah PW; Nawaz S; Hussain S; Ullah A; Basit S; Ahmad W
Mol Biol Rep; 2020 Sep; 47(9):7083-7088. PubMed ID: 32886330
[TBL] [Abstract][Full Text] [Related]
16. A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition.
Häuser F; Gökce S; Werner G; Danckwardt S; Sollfrank S; Neukirch C; Beyer V; Hennermann JB; Lackner KJ; Mengel E; Rossmann H
Mol Genet Metab; 2020 May; 130(1):27-35. PubMed ID: 32222271
[TBL] [Abstract][Full Text] [Related]
17. A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report.
Niu Y; Huang S; Wang Z; Xu P; Wang L; Li J; Gao M; Gao X; Gao Y
BMC Med Genet; 2020 Oct; 21(1):211. PubMed ID: 33087052
[TBL] [Abstract][Full Text] [Related]
18.
Kato K; Ohno S; Sonoda K; Fukuyama M; Makiyama T; Ozawa T; Horie M
Circ Genom Precis Med; 2020 Oct; 13(5):435-443. PubMed ID: 32818388
[TBL] [Abstract][Full Text] [Related]
19. Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Courraud J; Engel C; Quartier A; Drouot N; Houessou U; Plassard D; Sorlin A; Brischoux-Boucher E; Gouy E; Van Maldergem L; Rossi M; Lesca G; Edery P; Putoux A; Bilan F; Gilbert-Dussardier B; Atallah I; Kalscheuer VM; Mandel JL; Piton A
Mol Psychiatry; 2024 Feb; 29(2):287-296. PubMed ID: 38030819
[TBL] [Abstract][Full Text] [Related]
20. OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.
Abdel-Salam GMH; Abdel-Hamid MS; Sayed ISM; Zechner U; Bolz HJ
J Hum Genet; 2022 Jan; 67(1):55-64. PubMed ID: 34354232
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
