These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
138 related articles for article (PubMed ID: 29432562)
1. Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. Mizuguchi T; Nakashima M; Kato M; Okamoto N; Kurahashi H; Ekhilevitch N; Shiina M; Nishimura G; Shibata T; Matsuo M; Ikeda T; Ogata K; Tsuchida N; Mitsuhashi S; Miyatake S; Takata A; Miyake N; Hata K; Kaname T; Matsubara Y; Saitsu H; Matsumoto N Hum Mol Genet; 2018 Apr; 27(8):1421-1433. PubMed ID: 29432562 [TBL] [Abstract][Full Text] [Related]
2. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. Myers CT; Stong N; Mountier EI; Helbig KL; Freytag S; Sullivan JE; Ben Zeev B; Nissenkorn A; Tzadok M; Heimer G; Shinde DN; Rezazadeh A; Regan BM; Oliver KL; Ernst ME; Lippa NC; Mulhern MS; Ren Z; Poduri A; Andrade DM; Bird LM; Bahlo M; Berkovic SF; Lowenstein DH; Scheffer IE; Sadleir LG; Goldstein DB; Mefford HC; Heinzen EL Am J Hum Genet; 2017 Oct; 101(4):516-524. PubMed ID: 28942967 [TBL] [Abstract][Full Text] [Related]
3. Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: a case report. Yang S; Shen X; Kang Q; Kuang X; Ning Z; Liu S; Liao H; Cao Z; Yang L BMC Pediatr; 2020 Jun; 20(1):315. PubMed ID: 32593294 [TBL] [Abstract][Full Text] [Related]
4. Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression. Rydzanicz M; Wachowska M; Cook EC; Lisowski P; Kuźniewska B; Szymańska K; Diecke S; Prigione A; Szczałuba K; Szybińska A; Koppolu A; Murcia Pienkowski V; Kosińska J; Wiweger M; Kostrzewa G; Brzozowska M; Domańska-Pakieła D; Jurkiewicz E; Stawiński P; Gromadka A; Zielenkiewicz P; Demkow U; Dziembowska M; Kuźnicki J; Creamer TP; Płoski R Eur J Hum Genet; 2019 Jan; 27(1):61-69. PubMed ID: 30254215 [TBL] [Abstract][Full Text] [Related]
5. Early-onset infant epileptic encephalopathy associated with a de novo Qian Y; Wu B; Lu Y; Dong X; Qin Q; Zhou W; Wang H Cold Spring Harb Mol Case Stud; 2018 Dec; 4(6):. PubMed ID: 30455226 [TBL] [Abstract][Full Text] [Related]
6. PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. Panneerselvam S; Wang J; Zhu W; Dai H; Pappas JG; Rabin R; Low KJ; Rosenfeld JA; Emrick L; Xiao R; Xia F; Yang Y; Eng CM; Anderson A; Chau V; Soler-Alfonso C; Streff H; Lalani SR; Mercimek-Andrews S; ; ; Bi W Clin Genet; 2021 Aug; 100(2):227-233. PubMed ID: 33963760 [TBL] [Abstract][Full Text] [Related]
12. Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene. Jamsheer A; Sowińska-Seidler A; Olech EM; Socha M; Kozłowski K; Pyrkosz A; Trzeciak T; Materna-Kiryluk A; Latos-Bieleńska A J Hum Genet; 2016 May; 61(5):457-61. PubMed ID: 26763883 [TBL] [Abstract][Full Text] [Related]
13. Molecular cloning, structural analysis and tissue expression of protein phosphatase 3 catalytic subunit alpha isoform (PPP3CA) gene in Tianfu goat muscle. Wan L; Ma J; Xu G; Wang D; Wang N Int J Mol Sci; 2014 Feb; 15(2):2346-58. PubMed ID: 24514563 [TBL] [Abstract][Full Text] [Related]
14. TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model. Lüthy K; Mei D; Fischer B; De Fusco M; Swerts J; Paesmans J; Parrini E; Lubarr N; Meijer IA; Mackenzie KM; Lee WT; Cittaro D; Aridon P; Schoovaerts N; Versées W; Verstreken P; Casari G; Guerrini R Brain; 2019 Aug; 142(8):2319-2335. PubMed ID: 31257402 [TBL] [Abstract][Full Text] [Related]
15. De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Burrage LC; Charng WL; Eldomery MK; Willer JR; Davis EE; Lugtenberg D; Zhu W; Leduc MS; Akdemir ZC; Azamian M; Zapata G; Hernandez PP; Schoots J; de Munnik SA; Roepman R; Pearring JN; Jhangiani S; Katsanis N; Vissers LE; Brunner HG; Beaudet AL; Rosenfeld JA; Muzny DM; Gibbs RA; Eng CM; Xia F; Lalani SR; Lupski JR; Bongers EM; Yang Y Am J Hum Genet; 2015 Dec; 97(6):904-13. PubMed ID: 26637980 [TBL] [Abstract][Full Text] [Related]
16. X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3. Sun JH; Chen J; Ayala Valenzuela FE; Brown C; Masser-Frye D; Jones M; Romero LP; Rinaldi B; Li WL; Li QQ; Wu D; Gerard B; Thorpe E; Bayat A; Shi YS PLoS Genet; 2021 Jun; 17(6):e1009608. PubMed ID: 34161333 [TBL] [Abstract][Full Text] [Related]
17. Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy. Yamamoto T; Shimojima K; Yano T; Ueda Y; Takayama R; Ikeda H; Imai K Brain Dev; 2016 Mar; 38(3):280-4. PubMed ID: 26384463 [TBL] [Abstract][Full Text] [Related]
18. Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions. Tan TY; Gonzaga-Jauregui C; Bhoj EJ; Strauss KA; Brigatti K; Puffenberger E; Li D; Xie L; Das N; Skubas I; Deckelbaum RA; Hughes V; Brydges S; Hatsell S; Siao CJ; Dominguez MG; Economides A; Overton JD; Mayne V; Simm PJ; Jones BO; Eggers S; Le Guyader G; Pelluard F; Haack TB; Sturm M; Riess A; Waldmueller S; Hofbeck M; Steindl K; Joset P; Rauch A; Hakonarson H; Baker NL; Farlie PG Am J Hum Genet; 2017 Dec; 101(6):985-994. PubMed ID: 29198724 [TBL] [Abstract][Full Text] [Related]
19. Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report. Tan Y; Hou M; Ma S; Liu P; Xia S; Wang Y; Chen L; Chen Z BMC Med Genet; 2018 Jun; 19(1):92. PubMed ID: 29866057 [TBL] [Abstract][Full Text] [Related]
20. A novel calcineurin splice variant that modifies calcineurin activity. Reuter A; Mi J; Sehrsam I; Ludolph AC; Völkel H Eur J Biochem; 2001 Nov; 268(22):5955-60. PubMed ID: 11722584 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]