247 related articles for article (PubMed ID: 27076228)
1. Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.
Petrovski S; Parrott RE; Roberts JL; Huang H; Yang J; Gorentla B; Mousallem T; Wang E; Armstrong M; McHale D; MacIver NJ; Goldstein DB; Zhong XP; Buckley RH
J Clin Immunol; 2016 Jul; 36(5):462-71. PubMed ID: 27076228
[TBL] [Abstract][Full Text] [Related]
2. SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation.
Alcantara D; Elmslie F; Tetreault M; Bareke E; Hartley T; ; Majewski J; Boycott K; Innes AM; Dyment DA; O'Driscoll M
Hum Mol Genet; 2017 Oct; 26(19):3713-3721. PubMed ID: 28934384
[TBL] [Abstract][Full Text] [Related]
3. Mutations in PIK3R1 cause SHORT syndrome.
Dyment DA; Smith AC; Alcantara D; Schwartzentruber JA; Basel-Vanagaite L; Curry CJ; Temple IK; Reardon W; Mansour S; Haq MR; Gilbert R; Lehmann OJ; Vanstone MR; Beaulieu CL; ; Majewski J; Bulman DE; O'Driscoll M; Boycott KM; Innes AM
Am J Hum Genet; 2013 Jul; 93(1):158-66. PubMed ID: 23810382
[TBL] [Abstract][Full Text] [Related]
4. Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.
Lucas CL; Zhang Y; Venida A; Wang Y; Hughes J; McElwee J; Butrick M; Matthews H; Price S; Biancalana M; Wang X; Richards M; Pozos T; Barlan I; Ozen A; Rao VK; Su HC; Lenardo MJ
J Exp Med; 2014 Dec; 211(13):2537-47. PubMed ID: 25488983
[TBL] [Abstract][Full Text] [Related]
5. PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.
Thauvin-Robinet C; Auclair M; Duplomb L; Caron-Debarle M; Avila M; St-Onge J; Le Merrer M; Le Luyer B; Héron D; Mathieu-Dramard M; Bitoun P; Petit JM; Odent S; Amiel J; Picot D; Carmignac V; Thevenon J; Callier P; Laville M; Reznik Y; Fagour C; Nunes ML; Capeau J; Lascols O; Huet F; Faivre L; Vigouroux C; Rivière JB
Am J Hum Genet; 2013 Jul; 93(1):141-9. PubMed ID: 23810378
[TBL] [Abstract][Full Text] [Related]
6. Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.
Bravo García-Morato M; García-Miñaúr S; Molina Garicano J; Santos Simarro F; Del Pino Molina L; López-Granados E; Ferreira Cerdán A; Rodríguez Pena R
Clin Immunol; 2017 Jun; 179():77-80. PubMed ID: 28302518
[TBL] [Abstract][Full Text] [Related]
7. PIK3R1 mutations in SHORT syndrome.
Schroeder C; Riess A; Bonin M; Bauer P; Riess O; Döbler-Neumann M; Wieser S; Moog U; Tzschach A
Clin Genet; 2014 Sep; 86(3):292-4. PubMed ID: 23980586
[TBL] [Abstract][Full Text] [Related]
8. Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.
Bárcena C; Quesada V; De Sandre-Giovannoli A; Puente DA; Fernández-Toral J; Sigaudy S; Baban A; Lévy N; Velasco G; López-Otín C
BMC Med Genet; 2014 May; 15():51. PubMed ID: 24886349
[TBL] [Abstract][Full Text] [Related]
9. APDS2 and SHORT Syndrome in a Teenager with PIK3R1 Pathogenic Variant.
Ramirez L; Tamayo W; Ale H
J Clin Immunol; 2020 Oct; 40(7):1020-1025. PubMed ID: 32778990
[TBL] [Abstract][Full Text] [Related]
10. A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature.
Sun L; Zhang Q; Li Q; Tang Y; Wang Y; Li X; Li N; Wang J; Wang X
BMC Med Genet; 2020 Oct; 21(1):215. PubMed ID: 33129256
[TBL] [Abstract][Full Text] [Related]
11. A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.
Prontera P; Micale L; Verrotti A; Napolioni V; Stangoni G; Merla G
Hum Mutat; 2015 Nov; 36(11):1043-7. PubMed ID: 26252249
[TBL] [Abstract][Full Text] [Related]
12. PIK3R1 Mutation Associated with Hyper IgM (APDS2 Syndrome): A Case Report and Review of the Literature.
Yazdani R; Hamidi Z; Babaha F; Azizi G; Fekrvand S; Abolhassani H; Aghamohammadi A
Endocr Metab Immune Disord Drug Targets; 2019; 19(7):941-958. PubMed ID: 30799802
[TBL] [Abstract][Full Text] [Related]
13. Autosomal dominant PIK3R1 mutations cause SHORT syndrome.
Chung BK; Gibson WT
Clin Genet; 2014 Mar; 85(3):228-9. PubMed ID: 24033310
[TBL] [Abstract][Full Text] [Related]
14. Mice Carrying a Dominant-Negative Human PI3K Mutation Are Protected From Obesity and Hepatic Steatosis but Not Diabetes.
Solheim MH; Winnay JN; Batista TM; Molven A; Njølstad PR; Kahn CR
Diabetes; 2018 Jul; 67(7):1297-1309. PubMed ID: 29724723
[TBL] [Abstract][Full Text] [Related]
15. SHORT syndrome in two Chinese girls: A case report and review of the literature.
Zhang Y; Ji B; Li J; Li Y; Zhang M; Ban B
Mol Genet Genomic Med; 2020 Sep; 8(9):e1385. PubMed ID: 32602265
[TBL] [Abstract][Full Text] [Related]
16. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
Negishi Y; Miya F; Hattori A; Johmura Y; Nakagawa M; Ando N; Hori I; Togawa T; Aoyama K; Ohashi K; Fukumura S; Mizuno S; Umemura A; Kishimoto Y; Okamoto N; Kato M; Tsunoda T; Yamasaki M; Kanemura Y; Kosaki K; Nakanishi M; Saitoh S
BMC Med Genet; 2017 Jan; 18(1):4. PubMed ID: 28086757
[TBL] [Abstract][Full Text] [Related]
17. Clinical and immunological assessment of APDS2 with features of the SHORT syndrome related to a novel mutation in
Szczawińska-Popłonyk A; Bernat-Sitarz K; Schwartzmann E; Piechota M; Badura-Stronka M
Allergol Immunopathol (Madr); 2022; 50(4):1-9. PubMed ID: 35789397
[TBL] [Abstract][Full Text] [Related]
18. Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6-month follow up.
Yin X; Liu J; Feng R; Xu M; Liu J
J Diabetes Investig; 2021 Oct; 12(10):1919-1922. PubMed ID: 33742773
[TBL] [Abstract][Full Text] [Related]
19. Evaluation of B-cell intracellular signaling by monitoring the PI3K-Akt axis in patients with common variable immunodeficiency and activated phosphoinositide 3-kinase delta syndrome.
Del Pino-Molina L; Torres Canizales JM; Rodríguez-Pena R; López-Granados E
Cytometry B Clin Cytom; 2021 Jul; 100(4):460-466. PubMed ID: 32961022
[TBL] [Abstract][Full Text] [Related]
20. Phosphatase and tensin homolog (PTEN) mutation can cause activated phosphatidylinositol 3-kinase δ syndrome-like immunodeficiency.
Tsujita Y; Mitsui-Sekinaka K; Imai K; Yeh TW; Mitsuiki N; Asano T; Ohnishi H; Kato Z; Sekinaka Y; Zaha K; Kato T; Okano T; Takashima T; Kobayashi K; Kimura M; Kunitsu T; Maruo Y; Kanegane H; Takagi M; Yoshida K; Okuno Y; Muramatsu H; Shiraishi Y; Chiba K; Tanaka H; Miyano S; Kojima S; Ogawa S; Ohara O; Okada S; Kobayashi M; Morio T; Nonoyama S
J Allergy Clin Immunol; 2016 Dec; 138(6):1672-1680.e10. PubMed ID: 27426521
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]