403 related articles for article (PubMed ID: 24614070)
1. Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
Tatton-Brown K; Seal S; Ruark E; Harmer J; Ramsay E; Del Vecchio Duarte S; Zachariou A; Hanks S; O'Brien E; Aksglaede L; Baralle D; Dabir T; Gener B; Goudie D; Homfray T; Kumar A; Pilz DT; Selicorni A; Temple IK; Van Maldergem L; Yachelevich N; ; van Montfort R; Rahman N
Nat Genet; 2014 Apr; 46(4):385-8. PubMed ID: 24614070
[TBL] [Abstract][Full Text] [Related]
2. Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.
Okamoto N; Toribe Y; Shimojima K; Yamamoto T
Am J Med Genet A; 2016 May; 170A(5):1339-42. PubMed ID: 26866722
[TBL] [Abstract][Full Text] [Related]
3. Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Jeffries AR; Maroofian R; Salter CG; Chioza BA; Cross HE; Patton MA; Dempster E; Temple IK; Mackay DJG; Rezwan FI; Aksglaede L; Baralle D; Dabir T; Hunter MF; Kamath A; Kumar A; Newbury-Ecob R; Selicorni A; Springer A; Van Maldergem L; Varghese V; Yachelevich N; Tatton-Brown K; Mill J; Crosby AH; Baple EL
Genome Res; 2019 Jul; 29(7):1057-1066. PubMed ID: 31160375
[TBL] [Abstract][Full Text] [Related]
4. Skeletal abnormalities in mice with Dnmt3a missense mutations.
Bell-Hensley A; Beard DC; Feeney K; Zheng H; Jiang Y; Zhang X; Liu J; Gabel H; McAlinden A
Bone; 2024 Jun; 183():117085. PubMed ID: 38522809
[TBL] [Abstract][Full Text] [Related]
5. Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar
Hollink IHIM; van den Ouweland AMW; Beverloo HB; Arentsen-Peters STCJM; Zwaan CM; Wagner A
J Med Genet; 2017 Dec; 54(12):805-808. PubMed ID: 28432085
[TBL] [Abstract][Full Text] [Related]
6. Dnmt3a deficiency in the skin causes focal, canonical DNA hypomethylation and a cellular proliferation phenotype.
Chen DY; Ferguson IM; Braun KA; Sutton LA; Helton NM; Ramakrishnan SM; Smith AM; Miller CA; Ley TJ
Proc Natl Acad Sci U S A; 2021 Apr; 118(16):. PubMed ID: 33846253
[TBL] [Abstract][Full Text] [Related]
7. Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K; Loveday C; Yost S; Clarke M; Ramsay E; Zachariou A; Elliott A; Wylie H; Ardissone A; Rittinger O; Stewart F; Temple IK; Cole T; ; Mahamdallie S; Seal S; Ruark E; Rahman N
Am J Hum Genet; 2017 May; 100(5):725-736. PubMed ID: 28475857
[TBL] [Abstract][Full Text] [Related]
8. Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J; Alarcón P; Arias P; Dapía I; García-Miñaur S; Palomares Bralo M; Campistol J; Climent S; Valenzuela I; Ramos S; Monseny AM; Grondona FL; Botet J; Serrano M; Solís M; Santos-Simarro F; Álvarez S; Teixidó-Tura G; Fernández Jaén A; Gordo G; Bardón Rivera MB; Nevado J; Hernández A; Cigudosa JC; Ruiz-Pérez VL; Tizzano EF; ; Lapunzina P
Eur J Hum Genet; 2020 Apr; 28(4):469-479. PubMed ID: 31685998
[TBL] [Abstract][Full Text] [Related]
9. The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
Shen W; Heeley JM; Carlston CM; Acuna-Hidalgo R; Nillesen WM; Dent KM; Douglas GV; Levine KL; Bayrak-Toydemir P; Marcelis CL; Shinawi M; Carey JC
Am J Med Genet A; 2017 Nov; 173(11):3022-3028. PubMed ID: 28941052
[TBL] [Abstract][Full Text] [Related]
10. De novo mutations in MLL cause Wiedemann-Steiner syndrome.
Jones WD; Dafou D; McEntagart M; Woollard WJ; Elmslie FV; Holder-Espinasse M; Irving M; Saggar AK; Smithson S; Trembath RC; Deshpande C; Simpson MA
Am J Hum Genet; 2012 Aug; 91(2):358-64. PubMed ID: 22795537
[TBL] [Abstract][Full Text] [Related]
11. Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.
Liu Z; Li Z; Zhi X; Du Y; Lin Z; Wu J
Mol Neurobiol; 2018 Mar; 55(3):2483-2493. PubMed ID: 28386848
[TBL] [Abstract][Full Text] [Related]
12. Co-occurrence of a maternally inherited
Polonis K; Blackburn PR; Urrutia RA; Lomberk GA; Kruisselbrink T; Cousin MA; Boczek NJ; Hoppman NL; Babovic-Vuksanovic D; Klee EW; Pichurin PN
Cold Spring Harb Mol Case Stud; 2018 Aug; 4(4):. PubMed ID: 29802153
[TBL] [Abstract][Full Text] [Related]
13. Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis.
Ghaoui R; Ha TT; Kerkhof J; McConkey H; Gao S; Babic M; King R; Ravenscroft G; Koszyca B; Otto S; Laing NG; Scott H; Sadikovic B; Kassahn KS
Neuromuscul Disord; 2023 Jun; 33(6):484-489. PubMed ID: 37209493
[TBL] [Abstract][Full Text] [Related]
14. Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.
Kosaki R; Terashima H; Kubota M; Kosaki K
Am J Med Genet A; 2017 Jan; 173(1):250-253. PubMed ID: 27991732
[TBL] [Abstract][Full Text] [Related]
15. An adult patient with Tatton-Brown-Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy.
AlSabah AA; Alsalmi M; Massie R; Bilodeau MC; Campeau PM; McGraw S; D'Agostino MD
Am J Med Genet A; 2024 Apr; 194(4):e63484. PubMed ID: 38041495
[TBL] [Abstract][Full Text] [Related]
16. Tatton-Brown-Rahman syndrome: Novel pathogenic variants and new neuroimaging findings.
Jiménez de la Peña M; Rincón-Pérez I; López-Martín S; Albert J; Martín Fernández-Mayoralas D; Fernández-Perrone AL; Jiménez de Domingo A; Tirado P; Calleja-Pérez B; Porta J; Álvarez S; Fernández-Jaén A
Am J Med Genet A; 2024 Feb; 194(2):211-217. PubMed ID: 37795572
[TBL] [Abstract][Full Text] [Related]
17. Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome.
Tovy A; Rosas C; Gaikwad AS; Medrano G; Zhang L; Reyes JM; Huang YH; Arakawa T; Kurtz K; Conneely SE; Guzman AG; Aguilar R; Gao A; Chen CW; Kim JJ; Carter MT; Lasa-Aranzasti A; Valenzuela I; Van Maldergem L; Brunetti L; Hicks MJ; Marcogliese AN; Goodell MA; Rau RE
Haematologica; 2022 Apr; 107(4):887-898. PubMed ID: 34092059
[TBL] [Abstract][Full Text] [Related]
18. Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia.
Yan XJ; Xu J; Gu ZH; Pan CM; Lu G; Shen Y; Shi JY; Zhu YM; Tang L; Zhang XW; Liang WX; Mi JQ; Song HD; Li KQ; Chen Z; Chen SJ
Nat Genet; 2011 Mar; 43(4):309-15. PubMed ID: 21399634
[TBL] [Abstract][Full Text] [Related]
19. The methyltransferase domain of DNMT1 is an essential domain in acute myeloid leukemia independent of DNMT3A mutation.
Bhogal B; Weir BA; Crescenzo R; Marien A; Kwon MC; Philippar U; Cowley GS
Commun Biol; 2022 Nov; 5(1):1174. PubMed ID: 36329185
[TBL] [Abstract][Full Text] [Related]
20. The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape.
Weinberg DN; Papillon-Cavanagh S; Chen H; Yue Y; Chen X; Rajagopalan KN; Horth C; McGuire JT; Xu X; Nikbakht H; Lemiesz AE; Marchione DM; Marunde MR; Meiners MJ; Cheek MA; Keogh MC; Bareke E; Djedid A; Harutyunyan AS; Jabado N; Garcia BA; Li H; Allis CD; Majewski J; Lu C
Nature; 2019 Sep; 573(7773):281-286. PubMed ID: 31485078
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
