459 related articles for article (PubMed ID: 31163979)
21. Induced Pluripotent Stem Cell-Derived Cardiomyocytes from a Patient with MYL2-R58Q-Mediated Apical Hypertrophic Cardiomyopathy Show Hypertrophy, Myofibrillar Disarray, and Calcium Perturbations.
Zhou W; Bos JM; Ye D; Tester DJ; Hrstka S; Maleszewski JJ; Ommen SR; Nishimura RA; Schaff HV; Kim CS; Ackerman MJ
J Cardiovasc Transl Res; 2019 Oct; 12(5):394-403. PubMed ID: 30796699
[TBL] [Abstract][Full Text] [Related]
22. Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11.
Yagasaki H; Nakane T; Hasebe Y; Watanabe A; Kise H; Toda T; Koizumi K; Hoshiai M; Sugita K
Am J Med Genet A; 2015 Dec; 167A(12):3144-7. PubMed ID: 26286251
[TBL] [Abstract][Full Text] [Related]
23. Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
Denayer E; Devriendt K; de Ravel T; Van Buggenhout G; Smeets E; Francois I; Sznajer Y; Craen M; Leventopoulos G; Mutesa L; Vandecasseye W; Massa G; Kayserili H; Sciot R; Fryns JP; Legius E
Genes Chromosomes Cancer; 2010 Mar; 49(3):242-52. PubMed ID: 19953625
[TBL] [Abstract][Full Text] [Related]
24. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
Umeki I; Niihori T; Abe T; Kanno SI; Okamoto N; Mizuno S; Kurosawa K; Nagasaki K; Yoshida M; Ohashi H; Inoue SI; Matsubara Y; Fujiwara I; Kure S; Aoki Y
Hum Genet; 2019 Jan; 138(1):21-35. PubMed ID: 30368668
[TBL] [Abstract][Full Text] [Related]
25. CRISPR correction of the PRKAG2 gene mutation in the patient's induced pluripotent stem cell-derived cardiomyocytes eliminates electrophysiological and structural abnormalities.
Ben Jehuda R; Eisen B; Shemer Y; Mekies LN; Szantai A; Reiter I; Cui H; Guan K; Haron-Khun S; Freimark D; Sperling SR; Gherghiceanu M; Arad M; Binah O
Heart Rhythm; 2018 Feb; 15(2):267-276. PubMed ID: 28917552
[TBL] [Abstract][Full Text] [Related]
26. RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literature.
Thompson D; Patrick-Esteve J; Surcouf JW; Rivera D; Castellanos B; Desai P; Lilje C; Lacassie Y; Marble M; Zambrano R
Clin Dysmorphol; 2017 Oct; 26(4):195-199. PubMed ID: 28777121
[TBL] [Abstract][Full Text] [Related]
27. Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human-Induced Pluripotent Stem Cells.
Ma N; Zhang JZ; Itzhaki I; Zhang SL; Chen H; Haddad F; Kitani T; Wilson KD; Tian L; Shrestha R; Wu H; Lam CK; Sayed N; Wu JC
Circulation; 2018 Dec; 138(23):2666-2681. PubMed ID: 29914921
[TBL] [Abstract][Full Text] [Related]
28. Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes.
Josowitz R; Mulero-Navarro S; Rodriguez NA; Falce C; Cohen N; Ullian EM; Weiss LA; Rauen KA; Sobie EA; Gelb BD
Stem Cell Reports; 2016 Sep; 7(3):355-369. PubMed ID: 27569062
[TBL] [Abstract][Full Text] [Related]
29. Enhanced myofilament calcium sensitivity aggravates abnormal calcium handling and diastolic dysfunction in patient-specific induced pluripotent stem cell-derived cardiomyocytes with MYH7 mutation.
Guo G; Wang L; Li X; Fu W; Cao J; Zhang J; Liu Y; Liu M; Wang M; Zhao G; Zhao X; Zhou Y; Niu S; Liu G; Zhang Y; Dong J; Tao H; Zhao X
Cell Calcium; 2024 Jan; 117():102822. PubMed ID: 38101154
[TBL] [Abstract][Full Text] [Related]
30. Isogenic models of hypertrophic cardiomyopathy unveil differential phenotypes and mechanism-driven therapeutics.
Bhagwan JR; Mosqueira D; Chairez-Cantu K; Mannhardt I; Bodbin SE; Bakar M; Smith JGW; Denning C
J Mol Cell Cardiol; 2020 Aug; 145():43-53. PubMed ID: 32531470
[TBL] [Abstract][Full Text] [Related]
31. Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.
Nyström AM; Ekvall S; Berglund E; Björkqvist M; Braathen G; Duchen K; Enell H; Holmberg E; Holmlund U; Olsson-Engman M; Annerén G; Bondeson ML
J Med Genet; 2008 Aug; 45(8):500-6. PubMed ID: 18456719
[TBL] [Abstract][Full Text] [Related]
32. Modelling diastolic dysfunction in induced pluripotent stem cell-derived cardiomyocytes from hypertrophic cardiomyopathy patients.
Wu H; Yang H; Rhee JW; Zhang JZ; Lam CK; Sallam K; Chang ACY; Ma N; Lee J; Zhang H; Blau HM; Bers DM; Wu JC
Eur Heart J; 2019 Dec; 40(45):3685-3695. PubMed ID: 31219556
[TBL] [Abstract][Full Text] [Related]
33. Cardiac transplantation in children with Noonan syndrome.
McCallen LM; Ameduri RK; Denfield SW; Dodd DA; Everitt MD; Johnson JN; Lee TM; Lin AE; Lohr JL; May LJ; Pierpont ME; Stevenson DA; Chatfield KC
Pediatr Transplant; 2019 Sep; 23(6):e13535. PubMed ID: 31259454
[TBL] [Abstract][Full Text] [Related]
34. Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation.
Hopper RK; Feinstein JA; Manning MA; Benitz W; Hudgins L
Am J Med Genet A; 2015 Apr; 167A(4):882-5. PubMed ID: 25706034
[TBL] [Abstract][Full Text] [Related]
35. Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.
Uludağ Alkaya D; Lissewski C; Yeşil G; Zenker M; Tüysüz B
Am J Med Genet A; 2021 Dec; 185(12):3623-3633. PubMed ID: 34184824
[TBL] [Abstract][Full Text] [Related]
36. Atypical, severe hypertrophic cardiomyopathy in a newborn presenting Noonan syndrome harboring a recurrent heterozygous MRAS variant.
Pires LVL; Bordim RA; Maciel MBR; Tanaka ACS; Yamamoto GL; Honjo RS; Kim CA; Bertola DR
Am J Med Genet A; 2021 Oct; 185(10):3099-3103. PubMed ID: 34080768
[TBL] [Abstract][Full Text] [Related]
37. iPSC-Based Modeling of Variable Clinical Presentation in Hypertrophic Cardiomyopathy.
Escribá R; Larrañaga-Moreira JM; Richaud-Patin Y; Pourchet L; Lazis I; Jiménez-Delgado S; Morillas-García A; Ortiz-Genga M; Ochoa JP; Carreras D; Pérez GJ; de la Pompa JL; Brugada R; Monserrat L; Barriales-Villa R; Raya A
Circ Res; 2023 Jul; 133(2):108-119. PubMed ID: 37317833
[TBL] [Abstract][Full Text] [Related]
38. Hypertrophic cardiomyopathy in Noonan syndrome.
Nishikawa T; Ishiyama S; Shimojo T; Takeda K; Kasajima T; Momma K
Acta Paediatr Jpn; 1996 Feb; 38(1):91-8. PubMed ID: 8992870
[TBL] [Abstract][Full Text] [Related]
39. Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control.
Fontaine V; Duboscq-Bidot L; Jouve C; Hamlin M; Curjol A; Briand V; Janiak P; Hulot JS; Pruniaux-Harnist MP; Charron P; Villard E
Stem Cell Res; 2021 Apr; 52():102245. PubMed ID: 33610018
[TBL] [Abstract][Full Text] [Related]
40. Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.
Xu S; Fan Y; Sun Y; Wang L; Gu X; Yu Y
BMC Med Genomics; 2017 Oct; 10(1):62. PubMed ID: 29084544
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
