114 related articles for article (PubMed ID: 37094224)
21. Polyclonal hypergammaglobulinaemia: assessment, clinical interpretation, and management.
Zhao EJ; Cheng CV; Mattman A; Chen LYC
Lancet Haematol; 2021 May; 8(5):e365-e375. PubMed ID: 33894171
[TBL] [Abstract][Full Text] [Related]
22. First case of pyrin-associated autoinflammation with neutrophilic dermatosis complicated by amyloidosis.
Kiyota M; Oya M; Ayano M; Niiro H; Iwasaki T; Fujiwara M; Oda Y; Fujimoto K; Ida H
Rheumatology (Oxford); 2020 Sep; 59(9):e41-e43. PubMed ID: 31998953
[No Abstract] [Full Text] [Related]
23. Dynamic QT Changes in Long QT Syndrome Type 8.
Harada M; Suzuki H; Ohno S; Ozawa J; Saitoh A; Horie M
Circ J; 2019 Jun; 83(7):1614. PubMed ID: 30584231
[No Abstract] [Full Text] [Related]
24. Identification of a distinct subset of disease-associated gain-of-function missense mutations in the STAT1 coiled-coil domain as system mutants.
Petersen J; Staab J; Bader O; Buhl T; Ivetic A; Meyer T
Mol Immunol; 2019 Oct; 114():30-40. PubMed ID: 31336247
[TBL] [Abstract][Full Text] [Related]
25. Hypergammaglobulinaemia predicts glandular and extra-glandular damage in primary Sjögren's syndrome: results from the KISS cohort study.
Koh JH; Park Y; Lee J; Park SH; Kwok SK
Clin Exp Rheumatol; 2021; 39 Suppl 133(6):114-122. PubMed ID: 34796856
[TBL] [Abstract][Full Text] [Related]
26. A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.
Zhou Q; Lee GS; Brady J; Datta S; Katan M; Sheikh A; Martins MS; Bunney TD; Santich BH; Moir S; Kuhns DB; Long Priel DA; Ombrello A; Stone D; Ombrello MJ; Khan J; Milner JD; Kastner DL; Aksentijevich I
Am J Hum Genet; 2012 Oct; 91(4):713-20. PubMed ID: 23000145
[TBL] [Abstract][Full Text] [Related]
27. A novel SLC40A1 p.Y333H mutation with gain of function of ferroportin: A recurrent cause of haemochromatosis in China.
Zhang W; Xu A; Li Y; Zhao S; Zhou D; Wu L; Zhang B; Zhao X; Wang Y; Wang X; Duan W; Wang Q; Nan Y; You H; Jia J; Ou X; Huang J;
Liver Int; 2019 Jun; 39(6):1120-1127. PubMed ID: 30500107
[TBL] [Abstract][Full Text] [Related]
28. A novel gain-of-function sodium channel β2 subunit mutation in idiopathic small fiber neuropathy.
Alsaloum M; Labau JIR; Sosniak D; Zhao P; Almomani R; Gerrits M; Hoeijmakers JGJ; Lauria G; Faber CG; Waxman SG; Dib-Hajj S
J Neurophysiol; 2021 Sep; 126(3):827-839. PubMed ID: 34320850
[TBL] [Abstract][Full Text] [Related]
29. Identification of Gain and Loss of Function Missense Variants in MRGPRX2's Transmembrane and Intracellular Domains for Mast Cell Activation by Substance P.
Chompunud Na Ayudhya C; Roy S; Alkanfari I; Ganguly A; Ali H
Int J Mol Sci; 2019 Oct; 20(21):. PubMed ID: 31652731
[TBL] [Abstract][Full Text] [Related]
30. Splice-variant specific effects of a CACNA1H mutation associated with writer's cramp.
Souza IA; Gandini MA; Zamponi GW
Mol Brain; 2021 Sep; 14(1):145. PubMed ID: 34544471
[TBL] [Abstract][Full Text] [Related]
31. A dominant-negative effect drives selection of
Boettcher S; Miller PG; Sharma R; McConkey M; Leventhal M; Krivtsov AV; Giacomelli AO; Wong W; Kim J; Chao S; Kurppa KJ; Yang X; Milenkowic K; Piccioni F; Root DE; Rücker FG; Flamand Y; Neuberg D; Lindsley RC; Jänne PA; Hahn WC; Jacks T; Döhner H; Armstrong SA; Ebert BL
Science; 2019 Aug; 365(6453):599-604. PubMed ID: 31395785
[No Abstract] [Full Text] [Related]
32. Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
Hamanaka K; Miyoshi K; Sun JH; Hamada K; Komatsubara T; Saida K; Tsuchida N; Uchiyama Y; Fujita A; Mizuguchi T; Gerard B; Bayat A; Rinaldi B; Kato M; Tohyama J; Ogata K; Shi YS; Saito K; Miyatake S; Matsumoto N
Hum Genet; 2022 Feb; 141(2):283-293. PubMed ID: 35031858
[TBL] [Abstract][Full Text] [Related]
33. Significance of hypergammaglobulinemia in patients with chronic myelomonocytic leukemia.
Zack MT; Geissler K
Wien Med Wochenschr; 2023 Feb; 173(1-2):21-26. PubMed ID: 36445600
[TBL] [Abstract][Full Text] [Related]
34. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia.
Jain A; Ma CA; Liu S; Brown M; Cohen J; Strober W
Nat Immunol; 2001 Mar; 2(3):223-8. PubMed ID: 11224521
[TBL] [Abstract][Full Text] [Related]
35. Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases.
Ressler AK; Goldstein DB
Mol Genet Genomic Med; 2023 Jan; 11(1):e2097. PubMed ID: 36374045
[TBL] [Abstract][Full Text] [Related]
36. Hyperimmunoglobulinaemia D syndrome in India: report of two siblings with a novel mutation.
Lawrence A; Hol F; Aggarwal A; Drenth JP
Ann Rheum Dis; 2006 Dec; 65(12):1674-6. PubMed ID: 17105862
[No Abstract] [Full Text] [Related]
37. A critical region of A20 unveiled by missense
El Khouri E; Diab F; Louvrier C; Assrawi E; Daskalopoulou A; Nguyen A; Piterboth W; Deshayes S; Desdoits A; Copin B; Dastot Le Moal F; Karabina SA; Amselem S; Aouba A; Giurgea I
Elife; 2023 Jun; 12():. PubMed ID: 37342083
[TBL] [Abstract][Full Text] [Related]
38. Hypermorphic mutation of phospholipase C, γ2 acquired in ibrutinib-resistant CLL confers BTK independency upon B-cell receptor activation.
Liu TM; Woyach JA; Zhong Y; Lozanski A; Lozanski G; Dong S; Strattan E; Lehman A; Zhang X; Jones JA; Flynn J; Andritsos LA; Maddocks K; Jaglowski SM; Blum KA; Byrd JC; Dubovsky JA; Johnson AJ
Blood; 2015 Jul; 126(1):61-8. PubMed ID: 25972157
[TBL] [Abstract][Full Text] [Related]
39. Idiopathic hypergammaglobulinaemia associated with nephrogenic diabetes insipidus and distal renal tubular acidosis.
Spruce BA; Baylis PH; Kerr DN; Morley AR
Postgrad Med J; 1984 Jul; 60(705):493-4. PubMed ID: 6463004
[TBL] [Abstract][Full Text] [Related]
40. A Human STAT1 Gain-of-Function Mutation Impairs CD8
Qian W; Miner CA; Ingle H; Platt DJ; Baldridge MT; Miner JJ
J Virol; 2019 Oct; 93(19):. PubMed ID: 31315996
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
