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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

224 related articles for article (PubMed ID: 31953711)

  • 61. A mutation in PIK3CD gene causing pediatric systemic lupus erythematosus: A case report.
    Li GM; Liu HM; Guan WZ; Xu H; Wu BB; Feng JY; Sun L
    Medicine (Baltimore); 2019 May; 98(18):e15329. PubMed ID: 31045771
    [TBL] [Abstract][Full Text] [Related]  

  • 62. PI3K Orchestrates T Follicular Helper Cell Differentiation in a Context Dependent Manner: Implications for Autoimmunity.
    Preite S; Huang B; Cannons JL; McGavern DB; Schwartzberg PL
    Front Immunol; 2018; 9():3079. PubMed ID: 30666254
    [TBL] [Abstract][Full Text] [Related]  

  • 63. 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]  

  • 64. Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa.
    Takizawa Y; Pulkkinen L; Chao SC; Nakajima H; Nakano Y; Shimizu H; Uitto J
    J Invest Dermatol; 2000 Aug; 115(2):307-11. PubMed ID: 10951251
    [TBL] [Abstract][Full Text] [Related]  

  • 65. 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]  

  • 66. Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome.
    Asano T; Okada S; Tsumura M; Yeh TW; Mitsui-Sekinaka K; Tsujita Y; Ichinose Y; Shimada A; Hashimoto K; Wada T; Imai K; Ohara O; Morio T; Nonoyama S; Kobayashi M
    Front Immunol; 2018; 9():568. PubMed ID: 29675019
    [TBL] [Abstract][Full Text] [Related]  

  • 67. Copy number neutral loss of heterozygosity at 17p and homozygous mutations of TP53 are associated with complex chromosomal aberrations in patients newly diagnosed with myelodysplastic syndromes.
    Svobodova K; Zemanova Z; Lhotska H; Novakova M; Podskalska L; Belickova M; Brezinova J; Sarova I; Izakova S; Lizcova L; Berkova A; Siskova M; Jonasova A; Cermak J; Michalova K
    Leuk Res; 2016 Mar; 42():7-12. PubMed ID: 26851439
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Successful Sirolimus Treatment for Korean Patients with Activated Phosphoinositide 3-kinase δ Syndrome 1: the First Case Series in Korea.
    Kang JM; Kim SK; Kim D; Choi SR; Lim YJ; Kim SK; Park BK; Park WS; Kang ES; Ko YH; Choe YH; Lee JW; Kim YJ
    Yonsei Med J; 2020 Jun; 61(6):542-546. PubMed ID: 32469178
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa.
    Fassihi H; Wessagowit V; Ashton GH; Moss C; Ward R; Denyer J; Mellerio JE; McGrath JA
    Clin Exp Dermatol; 2005 Jan; 30(1):71-4. PubMed ID: 15663509
    [TBL] [Abstract][Full Text] [Related]  

  • 70. RETRACTED: Generalized verrucosis and abnormal T cell activation due to homozygous TAOK2 mutation.
    Molho-Pessach V; Ramot Y; Mogilevsky M; Cohen-Daniel L; Eisenstein EM; Abu-Libdeh A; Siam I; Berger M; Karni R; Zlotogorski A
    J Dermatol Sci; 2017 Aug; 87(2):123-129. PubMed ID: 28385331
    [TBL] [Abstract][Full Text] [Related]  

  • 71. Case report: A case of novel homozygous LRBA variant induced by chromosomal segmental uniparental disomy - genetic and clinical insights.
    Jiang L; Chen S
    Front Immunol; 2024; 15():1351076. PubMed ID: 38504982
    [TBL] [Abstract][Full Text] [Related]  

  • 72. CD45-deficient severe combined immunodeficiency caused by uniparental disomy.
    Roberts JL; Buckley RH; Luo B; Pei J; Lapidus A; Peri S; Wei Q; Shin J; Parrott RE; Dunbrack RL; Testa JR; Zhong XP; Wiest DL
    Proc Natl Acad Sci U S A; 2012 Jun; 109(26):10456-61. PubMed ID: 22689986
    [TBL] [Abstract][Full Text] [Related]  

  • 73. 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]  

  • 74. A novel germline gain-of-function variant in PIK3CD.
    Rae W; Gao Y; Ward D; Mattocks CJ; Eren E; Williams AP
    Clin Immunol; 2017 Aug; 181():29-31. PubMed ID: 28578023
    [No Abstract]   [Full Text] [Related]  

  • 75. Activated PIK3CD drives innate B cell expansion yet limits B cell-intrinsic immune responses.
    Wray-Dutra MN; Al Qureshah F; Metzler G; Oukka M; James RG; Rawlings DJ
    J Exp Med; 2018 Oct; 215(10):2485-2496. PubMed ID: 30194267
    [TBL] [Abstract][Full Text] [Related]  

  • 76. Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib.
    Rao VK; Webster S; Dalm VASH; Šedivá A; van Hagen PM; Holland S; Rosenzweig SD; Christ AD; Sloth B; Cabanski M; Joshi AD; de Buck S; Doucet J; Guerini D; Kalis C; Pylvaenaeinen I; Soldermann N; Kashyap A; Uzel G; Lenardo MJ; Patel DD; Lucas CL; Burkhart C
    Blood; 2017 Nov; 130(21):2307-2316. PubMed ID: 28972011
    [TBL] [Abstract][Full Text] [Related]  

  • 77. Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis.
    Hartman HN; Niemela J; Hintermeyer MK; Garofalo M; Stoddard J; Verbsky JW; Rosenzweig SD; Routes JM
    J Clin Immunol; 2015 Jan; 35(1):11-4. PubMed ID: 25352054
    [TBL] [Abstract][Full Text] [Related]  

  • 78. A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1).
    Lougaris V; Baronio M; Moratto D; Tampella G; Gazzurelli L; Facchetti M; Martire B; Cardinale F; Lanzarotto F; Bondioni MP; Villanacci V; Grimbacher B; Plebani A
    Clin Immunol; 2019 Mar; 200():31-34. PubMed ID: 30639166
    [TBL] [Abstract][Full Text] [Related]  

  • 79. 'Deletion rescue' by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome.
    Johnson JP; Haag M; Beischel L; McCann C; Phillips S; Tunby M; Hansen J; Schwanke C; Reynolds JF
    Clin Genet; 2014 Apr; 85(4):376-80. PubMed ID: 23586500
    [TBL] [Abstract][Full Text] [Related]  

  • 80. Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.
    Pulkkinen L; Bullrich F; Czarnecki P; Weiss L; Uitto J
    Am J Hum Genet; 1997 Sep; 61(3):611-9. PubMed ID: 9326326
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.