286 related articles for article (PubMed ID: 31557133)
1. Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice.
Fahrner JA; Lin WY; Riddle RC; Boukas L; DeLeon VB; Chopra S; Lad SE; Luperchio TR; Hansen KD; Bjornsson HT
JCI Insight; 2019 Oct; 4(20):. PubMed ID: 31557133
[TBL] [Abstract][Full Text] [Related]
2. Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome.
Carosso GA; Boukas L; Augustin JJ; Nguyen HN; Winer BL; Cannon GH; Robertson JD; Zhang L; Hansen KD; Goff LA; Bjornsson HT
JCI Insight; 2019 Oct; 4(20):. PubMed ID: 31465303
[TBL] [Abstract][Full Text] [Related]
3. The KMT2D Kabuki syndrome histone methylase controls neural crest cell differentiation and facial morphology.
Shpargel KB; Mangini CL; Xie G; Ge K; Magnuson T
Development; 2020 Jul; 147(21):. PubMed ID: 32541010
[TBL] [Abstract][Full Text] [Related]
4. The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration.
Schwenty-Lara J; Nehl D; Borchers A
Hum Mol Genet; 2020 Jan; 29(2):305-319. PubMed ID: 31813957
[TBL] [Abstract][Full Text] [Related]
5. Abnormal Peyer patch development and B-cell gut homing drive IgA deficiency in Kabuki syndrome.
Pilarowski GO; Cazares T; Zhang L; Benjamin JS; Liu K; Jagannathan S; Mousa N; Kasten J; Barski A; Lindsley AW; Bjornsson HT
J Allergy Clin Immunol; 2020 Mar; 145(3):982-992. PubMed ID: 31816409
[TBL] [Abstract][Full Text] [Related]
6. A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome.
Benjamin JS; Pilarowski GO; Carosso GA; Zhang L; Huso DL; Goff LA; Vernon HJ; Hansen KD; Bjornsson HT
Proc Natl Acad Sci U S A; 2017 Jan; 114(1):125-130. PubMed ID: 27999180
[TBL] [Abstract][Full Text] [Related]
7. Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation.
Wright A; Hall A; Daly T; Fontelonga T; Potter S; Schafer C; Lindsley A; Hung C; Bodamer O; Gussoni E
FASEB J; 2021 Nov; 35(11):e21955. PubMed ID: 34613626
[TBL] [Abstract][Full Text] [Related]
8. Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of
Porntaveetus T; Abid MF; Theerapanon T; Srichomthong C; Ohazama A; Kawasaki K; Kawasaki M; Suphapeetiporn K; Sharpe PT; Shotelersuk V
Int J Biol Sci; 2018; 14(4):381-389. PubMed ID: 29725259
[TBL] [Abstract][Full Text] [Related]
9. Genetic and behavioral characterization of a Kmt2d mouse mutant, a new model for Kabuki Syndrome.
Yamamoto PK; de Souza TA; Antiorio ATFB; Zanatto DA; Garcia-Gomes MSA; Alexandre-Ribeiro SR; Oliveira NS; Menck CFM; Bernardi MM; Massironi SMG; Mori CMC
Genes Brain Behav; 2019 Nov; 18(8):e12568. PubMed ID: 30891914
[TBL] [Abstract][Full Text] [Related]
10. Using Xenopus to analyze neurocristopathies like Kabuki syndrome.
Schwenty-Lara J; Pauli S; Borchers A
Genesis; 2021 Feb; 59(1-2):e23404. PubMed ID: 33351273
[TBL] [Abstract][Full Text] [Related]
11. Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Murakami H; Tsurusaki Y; Enomoto K; Kuroda Y; Yokoi T; Furuya N; Yoshihashi H; Minatogawa M; Abe-Hatano C; Ohashi I; Nishimura N; Kumaki T; Enomoto Y; Naruto T; Iwasaki F; Harada N; Ishikawa A; Kawame H; Sameshima K; Yamaguchi Y; Kobayashi M; Tominaga M; Ishikiriyama S; Tanaka T; Suzumura H; Ninomiya S; Kondo A; Kaname T; Kosaki K; Masuno M; Kuroki Y; Kurosawa K
Am J Med Genet A; 2020 Oct; 182(10):2333-2344. PubMed ID: 32803813
[TBL] [Abstract][Full Text] [Related]
12. Loss of function of Kmt2d, a gene mutated in Kabuki syndrome, affects heart development in Xenopus laevis.
Schwenty-Lara J; Nürnberger A; Borchers A
Dev Dyn; 2019 Jun; 248(6):465-476. PubMed ID: 30980591
[TBL] [Abstract][Full Text] [Related]
13. Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.
Stadelmaier RT; Kenna MA; Barrett D; Mullen TE; Bodamer O; Agrawal PB; Robson CD; Wojcik MH
Am J Med Genet A; 2021 Dec; 185(12):3770-3783. PubMed ID: 34369642
[TBL] [Abstract][Full Text] [Related]
14. Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.
Haanpää M; Schlecht H; Batra G; Clayton-Smith J; Douzgou S
Am J Med Genet A; 2017 Apr; 173(4):1115-1118. PubMed ID: 28256057
[TBL] [Abstract][Full Text] [Related]
15. Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.
Luperchio TR; Applegate CD; Bodamer O; Bjornsson HT
Mol Genet Genomic Med; 2020 Feb; 8(2):e1072. PubMed ID: 31814321
[TBL] [Abstract][Full Text] [Related]
16. Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.
Sobreira N; Brucato M; Zhang L; Ladd-Acosta C; Ongaco C; Romm J; Doheny KF; Mingroni-Netto RC; Bertola D; Kim CA; Perez AB; Melaragno MI; Valle D; Meloni VA; Bjornsson HT
Eur J Hum Genet; 2017 Dec; 25(12):1335-1344. PubMed ID: 29255178
[TBL] [Abstract][Full Text] [Related]
17. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Bögershausen N; Gatinois V; Riehmer V; Kayserili H; Becker J; Thoenes M; Simsek-Kiper PÖ; Barat-Houari M; Elcioglu NH; Wieczorek D; Tinschert S; Sarrabay G; Strom TM; Fabre A; Baynam G; Sanchez E; Nürnberg G; Altunoglu U; Capri Y; Isidor B; Lacombe D; Corsini C; Cormier-Daire V; Sanlaville D; Giuliano F; Le Quan Sang KH; Kayirangwa H; Nürnberg P; Meitinger T; Boduroglu K; Zoll B; Lyonnet S; Tzschach A; Verloes A; Di Donato N; Touitou I; Netzer C; Li Y; Geneviève D; Yigit G; Wollnik B
Hum Mutat; 2016 Sep; 37(9):847-64. PubMed ID: 27302555
[TBL] [Abstract][Full Text] [Related]
18. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
Baldridge D; Spillmann RC; Wegner DJ; Wambach JA; White FV; Sisco K; Toler TL; Dickson PI; Cole FS; Shashi V; Grange DK
Am J Med Genet A; 2020 May; 182(5):1053-1065. PubMed ID: 32083401
[TBL] [Abstract][Full Text] [Related]
19. Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.
Lindsley AW; Saal HM; Burrow TA; Hopkin RJ; Shchelochkov O; Khandelwal P; Xie C; Bleesing J; Filipovich L; Risma K; Assa'ad AH; Roehrs PA; Bernstein JA
J Allergy Clin Immunol; 2016 Jan; 137(1):179-187.e10. PubMed ID: 26194542
[TBL] [Abstract][Full Text] [Related]
20. CHARGE and Kabuki syndromes: a phenotypic and molecular link.
Schulz Y; Freese L; Mänz J; Zoll B; Völter C; Brockmann K; Bögershausen N; Becker J; Wollnik B; Pauli S
Hum Mol Genet; 2014 Aug; 23(16):4396-405. PubMed ID: 24705355
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
