148 related articles for article (PubMed ID: 36189577)
1. The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome.
Popp B; Brugger M; Poschmann S; Bartolomaeus T; Radtke M; Hentschel J; Di Donato N; Rump A; Gburek-Augustat J; Graf E; Wagner M; Sorge I; Lemke JR; Meitinger T; Abou Jamra R; Strehlow V; Brunet T
Clin Genet; 2023 Feb; 103(2):226-230. PubMed ID: 36189577
[TBL] [Abstract][Full Text] [Related]
2. The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy.
Hu X; Wu D; Li Y; Wei L; Li X; Qin M; Li H; Li M; Chen S; Gong C; Shen Y
BMC Med Genomics; 2020 Dec; 13(1):181. PubMed ID: 33276791
[TBL] [Abstract][Full Text] [Related]
3. Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants.
Nishi E; Yanagi K; Kaname T; Okamoto N
Mol Genet Genomic Med; 2024 Feb; 12(2):e2396. PubMed ID: 38353053
[TBL] [Abstract][Full Text] [Related]
4. Case report: A
Yang Q; Gong D; Yi S; Luo J; Zhang Q
Front Pediatr; 2023; 11():1064783. PubMed ID: 37351323
[TBL] [Abstract][Full Text] [Related]
5. De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype.
Jiang Y; Sun H; Lin Q; Wang Z; Wang G; Wang J; Jiang F; Yao R
BMC Med Genet; 2019 Aug; 20(1):134. PubMed ID: 31382906
[TBL] [Abstract][Full Text] [Related]
6. From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature.
Wiel LC; Bruno I; Barbi E; Sirchia F
Ital J Pediatr; 2022 May; 48(1):72. PubMed ID: 35550183
[TBL] [Abstract][Full Text] [Related]
7. Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature.
McConkey H; White-Brown A; Kerkhof J; Dyment D; Sadikovic B
Front Cell Dev Biol; 2022; 10():1022683. PubMed ID: 36589751
[TBL] [Abstract][Full Text] [Related]
8. Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Zanoni P; Steindl K; Sengupta D; Joset P; Bahr A; Sticht H; Lang-Muritano M; van Ravenswaaij-Arts CMA; Shinawi M; Andrews M; Attie-Bitach T; Maystadt I; Belnap N; Benoit V; Delplancq G; de Vries BBA; Grotto S; Lacombe D; Larson A; Mourmans J; Õunap K; Petrilli G; Pfundt R; Ramsey K; Blok LS; Tsatsaris V; Vitobello A; Faivre L; Wheeler PG; Wevers MR; Wojcik M; Zweier M; Gozani O; Rauch A
Genet Med; 2021 Aug; 23(8):1474-1483. PubMed ID: 33941880
[TBL] [Abstract][Full Text] [Related]
9. Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).
Boczek NJ; Lahner CA; Nguyen TM; Ferber MJ; Hasadsri L; Thorland EC; Niu Z; Gavrilova RH
Am J Med Genet A; 2018 Dec; 176(12):2798-2802. PubMed ID: 30345613
[TBL] [Abstract][Full Text] [Related]
10. De novo loss-of-function variants in
Barrie ES; Alfaro MP; Pfau RB; Goff MJ; McBride KL; Manickam K; Zmuda EJ
Cold Spring Harb Mol Case Stud; 2019 Aug; 5(4):. PubMed ID: 31171569
[TBL] [Abstract][Full Text] [Related]
11. De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features.
Lozier ER; Konovalov FA; Kanivets IV; Pyankov DV; Koshkin PA; Baleva LS; Sipyagina AE; Yakusheva EN; Kuchina AE; Korostelev SA
J Hum Genet; 2018 Jul; 63(8):919-922. PubMed ID: 29760529
[TBL] [Abstract][Full Text] [Related]
12. De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.
Derar N; Al-Hassnan ZN; Al-Owain M; Monies D; Abouelhoda M; Meyer BF; Moghrabi N; Alkuraya FS
Genet Med; 2019 Jan; 21(1):185-188. PubMed ID: 29892088
[TBL] [Abstract][Full Text] [Related]
13. Defining the NSD2 interactome: PARP1 PARylation reduces NSD2 histone methyltransferase activity and impedes chromatin binding.
Huang X; LeDuc RD; Fornelli L; Schunter AJ; Bennett RL; Kelleher NL; Licht JD
J Biol Chem; 2019 Aug; 294(33):12459-12471. PubMed ID: 31248990
[TBL] [Abstract][Full Text] [Related]
14. Global chromatin profiling reveals NSD2 mutations in pediatric acute lymphoblastic leukemia.
Jaffe JD; Wang Y; Chan HM; Zhang J; Huether R; Kryukov GV; Bhang HE; Taylor JE; Hu M; Englund NP; Yan F; Wang Z; Robert McDonald E; Wei L; Ma J; Easton J; Yu Z; deBeaumount R; Gibaja V; Venkatesan K; Schlegel R; Sellers WR; Keen N; Liu J; Caponigro G; Barretina J; Cooke VG; Mullighan C; Carr SA; Downing JR; Garraway LA; Stegmeier F
Nat Genet; 2013 Nov; 45(11):1386-91. PubMed ID: 24076604
[TBL] [Abstract][Full Text] [Related]
15. A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome.
Hannes F; Hammond P; Quarrell O; Fryns JP; Devriendt K; Vermeesch JR
Am J Med Genet A; 2012 May; 158A(5):996-1004. PubMed ID: 22438245
[TBL] [Abstract][Full Text] [Related]
16. A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome.
Nimura K; Ura K; Shiratori H; Ikawa M; Okabe M; Schwartz RJ; Kaneda Y
Nature; 2009 Jul; 460(7252):287-91. PubMed ID: 19483677
[TBL] [Abstract][Full Text] [Related]
17. Structural basis of the regulation of the normal and oncogenic methylation of nucleosomal histone H3 Lys36 by NSD2.
Sato K; Kumar A; Hamada K; Okada C; Oguni A; Machiyama A; Sakuraba S; Nishizawa T; Nureki O; Kono H; Ogata K; Sengoku T
Nat Commun; 2021 Nov; 12(1):6605. PubMed ID: 34782608
[TBL] [Abstract][Full Text] [Related]
18. NSD2 links dimethylation of histone H3 at lysine 36 to oncogenic programming.
Kuo AJ; Cheung P; Chen K; Zee BM; Kioi M; Lauring J; Xi Y; Park BH; Shi X; Garcia BA; Li W; Gozani O
Mol Cell; 2011 Nov; 44(4):609-20. PubMed ID: 22099308
[TBL] [Abstract][Full Text] [Related]
19. Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism.
Zollino M; Doronzio PN
J Hum Genet; 2018 Aug; 63(8):859-861. PubMed ID: 29884796
[No Abstract] [Full Text] [Related]
20. Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.
Andersen EF; Carey JC; Earl DL; Corzo D; Suttie M; Hammond P; South ST
Eur J Hum Genet; 2014 Apr; 22(4):464-70. PubMed ID: 23963300
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
