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 *

99 related articles for article (PubMed ID: 35810443)

  • 1. [Neurodevelopmental disorders associated with variants of GRIN gene family].
    Jiang X; Dong X; Zhou W
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jul; 39(7):783-787. PubMed ID: 35810443
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function.
    Santos-Gómez A; Miguez-Cabello F; García-Recio A; Locubiche-Serra S; García-Díaz R; Soto-Insuga V; Guerrero-López R; Juliá-Palacios N; Ciruela F; García-Cazorla À; Soto D; Olivella M; Altafaj X
    Hum Mol Genet; 2021 Feb; 29(24):3859-3871. PubMed ID: 33043365
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Distinct roles of
    Myers SJ; Yuan H; Kang JQ; Tan FCK; Traynelis SF; Low CM
    F1000Res; 2019; 8():. PubMed ID: 31807283
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and therapeutic significance of genetic variation in the GRIN gene family encoding NMDARs.
    Benke TA; Park K; Krey I; Camp CR; Song R; Ramsey AJ; Yuan H; Traynelis SF; Lemke J
    Neuropharmacology; 2021 Nov; 199():108805. PubMed ID: 34560056
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Spectrum of NMDA Receptor Variants in Neurodevelopmental Disorders and Epilepsy.
    Gjerulfsen CE; Krey I; Klöckner C; Rubboli G; Lemke JR; Møller RS
    Methods Mol Biol; 2024; 2799():1-11. PubMed ID: 38727899
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.
    Korinek M; Candelas Serra M; Abdel Rahman F; Dobrovolski M; Kuchtiak V; Abramova V; Fili K; Tomovic E; Hrcka Krausova B; Krusek J; Cerny J; Vyklicky L; Balik A; Smejkalova T
    Physiol Res; 2024 May; 73(Suppl 1):S413-S434. PubMed ID: 38836461
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Paradigmatic De Novo
    Santos-Gómez A; Miguez-Cabello F; Juliá-Palacios N; García-Navas D; Soto-Insuga V; García-Peñas JJ; Fuentes P; Ibáñez-Micó S; Cuesta L; Cancho R; Andreo-Lillo P; Gutiérrez-Aguilar G; Alonso-Luengo O; Málaga I; Hedrera-Fernández A; García-Cazorla À; Soto D; Olivella M; Altafaj X
    Int J Mol Sci; 2021 Nov; 22(23):. PubMed ID: 34884460
    [TBL] [Abstract][Full Text] [Related]  

  • 8. GRIN database: A unified and manually curated repertoire of GRIN variants.
    García-Recio A; Santos-Gómez A; Soto D; Julia-Palacios N; García-Cazorla À; Altafaj X; Olivella M
    Hum Mutat; 2021 Jan; 42(1):8-18. PubMed ID: 33252190
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder.
    Fernández-Marmiesse A; Kusumoto H; Rekarte S; Roca I; Zhang J; Myers SJ; Traynelis SF; Couce ML; Gutierrez-Solana L; Yuan H
    Mov Disord; 2018 Jul; 33(6):992-999. PubMed ID: 29644724
    [TBL] [Abstract][Full Text] [Related]  

  • 10.
    XiangWei W; Jiang Y; Yuan H
    Curr Opin Physiol; 2018 Apr; 2():27-35. PubMed ID: 29756080
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Positive allosteric modulators that target NMDA receptors rectify loss-of-function GRIN variants associated with neurological and neuropsychiatric disorders.
    Tang W; Liu D; Traynelis SF; Yuan H
    Neuropharmacology; 2020 Oct; 177():108247. PubMed ID: 32712275
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Gene Targeted Mice with Conditional Knock-In (-Out) of NMDAR Mutations.
    Sprengel R; Eltokhi A; Single FN
    Methods Mol Biol; 2017; 1677():201-230. PubMed ID: 28986875
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
    Gillentine MA; Wang T; Hoekzema K; Rosenfeld J; Liu P; Guo H; Kim CN; De Vries BBA; Vissers LELM; Nordenskjold M; Kvarnung M; Lindstrand A; Nordgren A; Gecz J; Iascone M; Cereda A; Scatigno A; Maitz S; Zanni G; Bertini E; Zweier C; Schuhmann S; Wiesener A; Pepper M; Panjwani H; Torti E; Abid F; Anselm I; Srivastava S; Atwal P; Bacino CA; Bhat G; Cobian K; Bird LM; Friedman J; Wright MS; Callewaert B; Petit F; Mathieu S; Afenjar A; Christensen CK; White KM; Elpeleg O; Berger I; Espineli EJ; Fagerberg C; Brasch-Andersen C; Hansen LK; Feyma T; Hughes S; Thiffault I; Sullivan B; Yan S; Keller K; Keren B; Mignot C; Kooy F; Meuwissen M; Basinger A; Kukolich M; Philips M; Ortega L; Drummond-Borg M; Lauridsen M; Sorensen K; Lehman A; ; Lopez-Rangel E; Levy P; Lessel D; Lotze T; Madan-Khetarpal S; Sebastian J; Vento J; Vats D; Benman LM; Mckee S; Mirzaa GM; Muss C; Pappas J; Peeters H; Romano C; Elia M; Galesi O; Simon MEH; van Gassen KLI; Simpson K; Stratton R; Syed S; Thevenon J; Palafoll IV; Vitobello A; Bournez M; Faivre L; Xia K; ; Earl RK; Nowakowski T; Bernier RA; Eichler EE
    Genome Med; 2021 Apr; 13(1):63. PubMed ID: 33874999
    [TBL] [Abstract][Full Text] [Related]  

  • 14. GRIN2A-related disorders: genotype and functional consequence predict phenotype.
    Strehlow V; Heyne HO; Vlaskamp DRM; Marwick KFM; Rudolf G; de Bellescize J; Biskup S; Brilstra EH; Brouwer OF; Callenbach PMC; Hentschel J; Hirsch E; Kind PC; Mignot C; Platzer K; Rump P; Skehel PA; Wyllie DJA; Hardingham GE; van Ravenswaaij-Arts CMA; Lesca G; Lemke JR;
    Brain; 2019 Jan; 142(1):80-92. PubMed ID: 30544257
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The role of NMDA receptor and neuroligin rare variants in synaptic dysfunction underlying neurodevelopmental disorders.
    Vieira MM; Jeong J; Roche KW
    Curr Opin Neurobiol; 2021 Aug; 69():93-104. PubMed ID: 33823469
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.
    Myers SJ; Yuan H; Perszyk RE; Zhang J; Kim S; Nocilla KA; Allen JP; Bain JM; Lemke JR; Lal D; Benke TA; Traynelis SF
    Hum Mol Genet; 2023 Sep; 32(19):2857-2871. PubMed ID: 37369021
    [TBL] [Abstract][Full Text] [Related]  

  • 17. De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases.
    Li J; Zhang J; Tang W; Mizu RK; Kusumoto H; XiangWei W; Xu Y; Chen W; Amin JB; Hu C; Kannan V; Keller SR; Wilcox WR; Lemke JR; Myers SJ; Swanger SA; Wollmuth LP; Petrovski S; Traynelis SF; Yuan H
    Hum Mutat; 2019 Dec; 40(12):2393-2413. PubMed ID: 31429998
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Intrathecal magnesium delivery for Mg++-insensitive NMDA receptor activity due to GRIN1 mutation.
    Lewis SA; Shetty S; Gamble S; Heim J; Zhao N; Stitt G; Pankratz M; Mangum T; Marku I; Rosenberg RB; Wilfong AA; Fahey MC; Kim S; Myers SJ; Appavu B; Kruer MC
    Orphanet J Rare Dis; 2023 Aug; 18(1):225. PubMed ID: 37537625
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.
    Tarabeux J; Kebir O; Gauthier J; Hamdan FF; Xiong L; Piton A; Spiegelman D; Henrion É; Millet B; ; Fathalli F; Joober R; Rapoport JL; DeLisi LE; Fombonne É; Mottron L; Forget-Dubois N; Boivin M; Michaud JL; Drapeau P; Lafrenière RG; Rouleau GA; Krebs MO
    Transl Psychiatry; 2011 Nov; 1(11):e55. PubMed ID: 22833210
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
    Mannucci I; Dang NDP; Huber H; Murry JB; Abramson J; Althoff T; Banka S; Baynam G; Bearden D; Beleza-Meireles A; Benke PJ; Berland S; Bierhals T; Bilan F; Bindoff LA; Braathen GJ; Busk ØL; Chenbhanich J; Denecke J; Escobar LF; Estes C; Fleischer J; Groepper D; Haaxma CA; Hempel M; Holler-Managan Y; Houge G; Jackson A; Kellogg L; Keren B; Kiraly-Borri C; Kraus C; Kubisch C; Le Guyader G; Ljungblad UW; Brenman LM; Martinez-Agosto JA; Might M; Miller DT; Minks KQ; Moghaddam B; Nava C; Nelson SF; Parant JM; Prescott T; Rajabi F; Randrianaivo H; Reiter SF; Schuurs-Hoeijmakers J; Shieh PB; Slavotinek A; Smithson S; Stegmann APA; Tomczak K; Tveten K; Wang J; Whitlock JH; Zweier C; McWalter K; Juusola J; Quintero-Rivera F; Fischer U; Yeo NC; Kreienkamp HJ; Lessel D
    Genome Med; 2021 May; 13(1):90. PubMed ID: 34020708
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.