145 related articles for article (PubMed ID: 33393008)
1. Clinical and molecular findings in a Turkish family with an ultra-rare condition, ELP2-related neurodevelopmental disorder.
Dogan M; Teralı K; Eroz R; Demirci H; Kocabay K
Mol Biol Rep; 2021 Jan; 48(1):701-708. PubMed ID: 33393008
[TBL] [Abstract][Full Text] [Related]
2. ELP2 is a novel gene implicated in neurodevelopmental disabilities.
Cohen JS; Srivastava S; Farwell KD; Lu HM; Zeng W; Lu H; Chao EC; Fatemi A
Am J Med Genet A; 2015 Jun; 167(6):1391-5. PubMed ID: 25847581
[TBL] [Abstract][Full Text] [Related]
3. ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature.
Russo A; Forest C; Leone GJ; Iascone M; Tenconi R; Maffei M; Cersosimo A; Cordelli DM; Suppiej A
Eur J Med Genet; 2021 Dec; 64(12):104361. PubMed ID: 34653680
[TBL] [Abstract][Full Text] [Related]
4. A Novel
Turkyilmaz A; Sager G
Mol Syndromol; 2020 Dec; 11(5-6):315-319. PubMed ID: 33510603
[TBL] [Abstract][Full Text] [Related]
5. The Elp2 subunit is essential for elongator complex assembly and functional regulation.
Dong C; Lin Z; Diao W; Li D; Chu X; Wang Z; Zhou H; Xie Z; Shen Y; Long J
Structure; 2015 Jun; 23(6):1078-86. PubMed ID: 25960406
[TBL] [Abstract][Full Text] [Related]
6. Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.
Kojic M; Gawda T; Gaik M; Begg A; Salerno-Kochan A; Kurniawan ND; Jones A; Drożdżyk K; Kościelniak A; Chramiec-Głąbik A; Hediyeh-Zadeh S; Kasherman M; Shim WJ; Sinniah E; Genovesi LA; Abrahamsen RK; Fenger CD; Madsen CG; Cohen JS; Fatemi A; Stark Z; Lunke S; Lee J; Hansen JK; Boxill MF; Keren B; Marey I; Saenz MS; Brown K; Alexander SA; Mureev S; Batzilla A; Davis MJ; Piper M; Bodén M; Burne THJ; Palpant NJ; Møller RS; Glatt S; Wainwright BJ
Nat Commun; 2021 May; 12(1):2678. PubMed ID: 33976153
[TBL] [Abstract][Full Text] [Related]
7. A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype.
Hancarova M; Babikyan D; Bendova S; Midyan S; Prchalova D; Shahsuvaryan G; Stranecky V; Sarkisian T; Sedlacek Z
Mol Genet Genomic Med; 2019 Sep; 7(9):e865. PubMed ID: 31334606
[TBL] [Abstract][Full Text] [Related]
8. HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies.
Sager G; Turkyilmaz A; Ates EA; Kutlubay B
Acta Neurol Belg; 2022 Apr; 122(2):391-399. PubMed ID: 33813722
[TBL] [Abstract][Full Text] [Related]
9. The Elp2 subunit of elongator and elongating RNA polymerase II holoenzyme is a WD40 repeat protein.
Fellows J; Erdjument-Bromage H; Tempst P; Svejstrup JQ
J Biol Chem; 2000 Apr; 275(17):12896-9. PubMed ID: 10777588
[TBL] [Abstract][Full Text] [Related]
10. Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.
Ilyas M; Efthymiou S; Salpietro V; Noureen N; Zafar F; Rauf S; Mir A; Houlden H
BMC Med Genet; 2020 Mar; 21(1):59. PubMed ID: 32209057
[TBL] [Abstract][Full Text] [Related]
11. A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations.
Almatrafi A; Umair M; Eldardear A; Al-Luqmani M; Hashmi JA; Albalawi AM; Alfadhel M; Ramzan K; Basit S
J Gene Med; 2020 Aug; 22(8):e3196. PubMed ID: 32246862
[TBL] [Abstract][Full Text] [Related]
12. Genetic basis of neurodevelopmental disorders in 103 Jordanian families.
Froukh T; Nafie O; Al Hait SAS; Laugwitz L; Sommerfeld J; Sturm M; Baraghiti A; Issa T; Al-Nazer A; Koch PA; Hanselmann J; Kootz B; Bauer P; Al-Ameri W; Abou Jamra R; Alfrook AJ; Hamadallah M; Sofan L; Riess A; Haack TB; Riess O; Buchert R
Clin Genet; 2020 Apr; 97(4):621-627. PubMed ID: 32056211
[TBL] [Abstract][Full Text] [Related]
13. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
Kolanczyk M; Krawitz P; Hecht J; Hupalowska A; Miaczynska M; Marschner K; Schlack C; Emmerich D; Kobus K; Kornak U; Robinson PN; Plecko B; Grangl G; Uhrig S; Mundlos S; Horn D
Eur J Hum Genet; 2015 May; 23(5):633-8. PubMed ID: 24916641
[TBL] [Abstract][Full Text] [Related]
14. 4-Phenylbutyrate stimulates Hsp70 expression through the Elp2 component of elongator and STAT-3 in cystic fibrosis epithelial cells.
Suaud L; Miller K; Panichelli AE; Randell RL; Marando CM; Rubenstein RC
J Biol Chem; 2011 Dec; 286(52):45083-92. PubMed ID: 22069317
[TBL] [Abstract][Full Text] [Related]
15. Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
Ansar M; Paracha SA; Serretti A; Sarwar MT; Khan J; Ranza E; Falconnet E; Iwaszkiewicz J; Shah SF; Qaisar AA; Santoni FA; Zoete V; Megarbane A; Ahmed J; Colombo R; Makrythanasis P; Antonarakis SE
Hum Mol Genet; 2019 Mar; 28(6):972-979. PubMed ID: 30481285
[TBL] [Abstract][Full Text] [Related]
16. Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
Moudi M; Vahidi Mehrjardi MY; Hozhabri H; Metanat Z; Kalantar SM; Taheri M; Ghasemi N; Dehghani M
J Clin Lab Anal; 2022 Feb; 36(2):e24241. PubMed ID: 35019165
[TBL] [Abstract][Full Text] [Related]
17. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.
Rafiullah R; Aslamkhan M; Paramasivam N; Thiel C; Mustafa G; Wiemann S; Schlesner M; Wade RC; Rappold GA; Berkel S
J Med Genet; 2016 Feb; 53(2):138-44. PubMed ID: 26566883
[TBL] [Abstract][Full Text] [Related]
18. Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Stolz JR; Foote KM; Veenstra-Knol HE; Pfundt R; Ten Broeke SW; de Leeuw N; Roht L; Pajusalu S; Part R; Rebane I; Õunap K; Stark Z; Kirk EP; Lawson JA; Lunke S; Christodoulou J; Louie RJ; Rogers RC; Davis JM; Innes AM; Wei XC; Keren B; Mignot C; Lebel RR; Sperber SM; Sakonju A; Dosa N; Barge-Schaapveld DQCM; Peeters-Scholte CMPCD; Ruivenkamp CAL; van Bon BW; Kennedy J; Low KJ; Ellard S; Pang L; Junewick JJ; Mark PR; Carvill GL; Swanson GT
Am J Hum Genet; 2021 Sep; 108(9):1692-1709. PubMed ID: 34375587
[TBL] [Abstract][Full Text] [Related]
19. Novel LINS1 missense mutation in a family with non-syndromic intellectual disability.
Sheth J; Ranjan G; Shah K; Bhavsar R; Sheth F
Am J Med Genet A; 2017 Apr; 173(4):1041-1046. PubMed ID: 28181389
[TBL] [Abstract][Full Text] [Related]
20. Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.
Prasad A; Sdano MA; Vanzo RJ; Mowery-Rushton PA; Serrano MA; Hensel CH; Wassman ER
BMC Med Genet; 2018 Mar; 19(1):46. PubMed ID: 29554876
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]