BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

189 related articles for article (PubMed ID: 32778990)

  • 21. Insights into the pathological mechanisms of p85α mutations using a yeast-based phosphatidylinositol 3-kinase model.
    Oliver MD; Fernández-Acero T; Luna S; Rodríguez-Escudero I; Molina M; Pulido R; Cid VJ
    Biosci Rep; 2017 Apr; 37(2):. PubMed ID: 28143957
    [TBL] [Abstract][Full Text] [Related]  

  • 22. The First Iranian Cohort of Pediatric Patients with Activated Phosphoinositide 3-Kinase-δ (PI3Kδ) Syndrome (APDS).
    Fekrvand S; Delavari S; Chavoshzadeh Z; Sherkat R; Mahdaviani SA; Sadeghi Shabestari M; Azizi G; Arzanian MT; Shahin Shamsian B; Eskandarzadeh S; Eslami N; Rae W; Condino-Neto A; Mohammadi J; Abolhassani H; Yazdani R; Aghamohammadi A
    Immunol Invest; 2022 Apr; 51(3):644-659. PubMed ID: 33401995
    [TBL] [Abstract][Full Text] [Related]  

  • 23. SHORT syndrome in an adult Brazilian patient.
    Gonçalves ACG; Moretti PN; Cordoba MS; Oliveira RS; Lopes FSC; Oliveira SF; Pic-Taylor A; Castro LC; Mazzeu JF
    Am J Med Genet A; 2022 May; 188(5):1635-1638. PubMed ID: 35080105
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2.
    Hong Y; Nanthapisal S; Omoyinmi E; Olbrich P; Neth O; Speckmann C; Lucena JM; Gilmour K; Worth A; ; Klein N; Eleftheriou D; Brogan P
    Front Immunol; 2019; 10():2589. PubMed ID: 31781101
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Truncation of Pik3r1 causes severe insulin resistance uncoupled from obesity and dyslipidaemia by increased energy expenditure.
    Kwok A; Zvetkova I; Virtue S; Luijten I; Huang-Doran I; Tomlinson P; Bulger DA; West J; Murfitt S; Griffin J; Alam R; Hart D; Knox R; Voshol P; Vidal-Puig A; Jensen J; O'Rahilly S; Semple RK
    Mol Metab; 2020 Oct; 40():101020. PubMed ID: 32439336
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy.
    Michalovich D; Nejentsev S
    Front Immunol; 2018; 9():369. PubMed ID: 29535736
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. EXPANSION OF THE SHORT SYNDROME PHENOTYPE IN AN ADULT PATIENT WITH UNILATERAL BASAL GANGLIA CALCIFICATION.
    Salinas-Torres VM; De La O-Expinoza EA; Salinas-Torres RA
    Genet Couns; 2016; 27(4):479-483. PubMed ID: 30226966
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature.
    Olbrich P; Lorenz M; Cura Daball P; Lucena JM; Rensing-Ehl A; Sanchez B; Führer M; Camacho-Lovillo M; Melon M; Schwarz K; Neth O; Speckmann C
    Pediatr Allergy Immunol; 2016 Sep; 27(6):640-4. PubMed ID: 27116393
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Paradoxical dominant negative activity of an immunodeficiency-associated activating
    Tomlinson PR; Knox R; Perisic O; Su HC; Brierley GV; Williams RL; Semple RK
    bioRxiv; 2023 Dec; ():. PubMed ID: 38077044
    [No Abstract]   [Full Text] [Related]  

  • 32. Respiratory Manifestations of the Activated Phosphoinositide 3-Kinase Delta Syndrome.
    Condliffe AM; Chandra A
    Front Immunol; 2018; 9():338. PubMed ID: 29556229
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Systematic review of mortality and survival rates for APDS.
    Hanson J; Bonnen PE
    Clin Exp Med; 2024 Jan; 24(1):17. PubMed ID: 38280023
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.
    Ranza E; Guimier A; Verloes A; Capri Y; Marques C; Auclair M; Mathieu-Dramard M; Morin G; Thevenon J; Faivre L; Thauvin-Robinet C; Innes AM; Dyment DA; Vigouroux C; Amiel J
    Clin Genet; 2020 Jul; 98(1):10-18. PubMed ID: 32233106
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
    Maccari ME; Wolkewitz M; Schwab C; Lorenzini T; Leiding JW; Aladjdi N; Abolhassani H; Abou-Chahla W; Aiuti A; Azarnoush S; Baris S; Barlogis V; Barzaghi F; Baumann U; Bloomfield M; Bohynikova N; Bodet D; Boutboul D; Bucciol G; Buckland MS; Burns SO; Cancrini C; Cathébras P; Cavazzana M; Cheminant M; Chinello M; Ciznar P; Coulter TI; D'Aveni M; Ekwall O; Eric Z; Eren E; Fasth A; Frange P; Fournier B; Garcia-Prat M; Gardembas M; Geier C; Ghosh S; Goda V; Hammarström L; Hauck F; Heeg M; Heropolitanska-Pliszka E; Hilfanova A; Jolles S; Karakoc-Aydiner E; Kindle GR; Kiykim A; Klemann C; Koletsi P; Koltan S; Kondratenko I; Körholz J; Krüger R; Jeziorski E; Levy R; Le Guenno G; Lefevre G; Lougaris V; Marzollo A; Mahlaoui N; Malphettes M; Meinhardt A; Merlin E; Meyts I; Milota T; Moreira F; Moshous D; Mukhina A; Neth O; Neubert J; Neven B; Nieters A; Nove-Josserand R; Oksenhendler E; Ozen A; Olbrich P; Perlat A; Pac M; Schmid JP; Pacillo L; Parra-Martinez A; Paschenko O; Pellier I; Sefer AP; Plebani A; Plantaz D; Prader S; Raffray L; Ritterbusch H; Riviere JG; Rivalta B; Rusch S; Sakovich I; Savic S; Scheible R; Schleinitz N; Schuetz C; Schulz A; Sediva A; Semeraro M; Sharapova SO; Shcherbina A; Slatter MA; Sogkas G; Soler-Palacin P; Speckmann C; Stephan JL; Suarez F; Tommasini A; Trück J; Uhlmann A; van Aerde KJ; van Montfrans J; von Bernuth H; Warnatz K; Williams T; Worth AJJ; Ip W; Picard C; Catherinot E; Nademi Z; Grimbacher B; Forbes Satter LR; Kracker S; Chandra A; Condliffe AM; Ehl S;
    J Allergy Clin Immunol; 2023 Oct; 152(4):984-996.e10. PubMed ID: 37390899
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma.
    Hauck F; Magg T; Krolo A; Bilic I; Hirschmugl T; Laass M; Rösen-Wolff A; Luksch H; Boztug K; Roesler J
    Klin Padiatr; 2017 May; 229(3):113-117. PubMed ID: 28561224
    [No Abstract]   [Full Text] [Related]  

  • 37. Human PIK3R1 mutations disrupt lymphocyte differentiation to cause activated PI3Kδ syndrome 2.
    Nguyen T; Lau A; Bier J; Cooke KC; Lenthall H; Ruiz-Diaz S; Avery DT; Brigden H; Zahra D; Sewell WA; Droney L; Okada S; Asano T; Abolhassani H; Chavoshzadeh Z; Abraham RS; Rajapakse N; Klee EW; Church JA; Williams A; Wong M; Burkhart C; Uzel G; Croucher DR; James DE; Ma CS; Brink R; Tangye SG; Deenick EK
    J Exp Med; 2023 Jun; 220(6):. PubMed ID: 36943234
    [TBL] [Abstract][Full Text] [Related]  

  • 38. SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.
    Chudasama KK; Winnay J; Johansson S; Claudi T; König R; Haldorsen I; Johansson B; Woo JR; Aarskog D; Sagen JV; Kahn CR; Molven A; Njølstad PR
    Am J Hum Genet; 2013 Jul; 93(1):150-7. PubMed ID: 23810379
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Disorders Related to PI3Kδ Hyperactivation: Characterizing the Clinical and Immunological Features of Activated PI3-Kinase Delta Syndromes.
    Redenbaugh V; Coulter T
    Front Pediatr; 2021; 9():702872. PubMed ID: 34422726
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Activated phosphoinositide 3-dinase delta syndrome (APDS): An update.
    Lougaris V; Cancrini C; Rivalta B; Castagnoli R; Giardino G; Volpi S; Leonardi L; La Torre F; Federici S; Corrente S; Cinicola BL; Soresina A; Marseglia GL; Cardinale F
    Pediatr Allergy Immunol; 2022 Jan; 33 Suppl 27(Suppl 27):69-72. PubMed ID: 35080319
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.