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 *

198 related articles for article (PubMed ID: 37794328)

  • 1. Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability.
    Hussain SI; Muhammad N; Shah SUD; Fardous F; Khan SA; Khan N; Rehman AU; Siddique M; Wasan SA; Niaz R; Ullah H; Khan N; Muhammad N; Mirza MU; Wasif N; Khan S
    BMC Neurol; 2023 Oct; 23(1):353. PubMed ID: 37794328
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome.
    Ilie A; Gao AYL; Boucher A; Park J; Berghuis AM; Hoffer MJV; Hilhorst-Hofstee Y; McKinney RA; Orlowski J
    Neurobiol Dis; 2019 Jan; 121():187-204. PubMed ID: 30296617
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Case Report: Compound Heterozygous Variants of
    Kang Q; Yang L; Liao H; Yang S; Yang H; Ning Z; Liao C; Wu L
    Front Pediatr; 2021; 9():801719. PubMed ID: 34966709
    [No Abstract]   [Full Text] [Related]  

  • 4. X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities.
    Sikora J; Leddy J; Gulinello M; Walkley SU
    Dis Model Mech; 2016 Jan; 9(1):13-23. PubMed ID: 26515654
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Christianson syndrome: A novel splicing variant of SLC9A6 causes exon skipping in a Chinese boy and a literature review.
    Zhang X; Wu X; Liu H; Song T; Jiang Y; He H; Yang S; Xie Y
    J Clin Lab Anal; 2022 Jan; 36(1):e24123. PubMed ID: 34791706
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death.
    Ilie A; Gao AY; Reid J; Boucher A; McEwan C; Barrière H; Lukacs GL; McKinney RA; Orlowski J
    Mol Neurodegener; 2016 Sep; 11(1):63. PubMed ID: 27590723
    [TBL] [Abstract][Full Text] [Related]  

  • 7. SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
    Dewulf JP; Wiame E; Dorboz I; Elmaleh-Bergès M; Imbard A; Dumitriu D; Rak M; Bourillon A; Helaers R; Malla A; Renaldo F; Boespflug-Tanguy O; Vincent MF; Benoist JF; Wevers RA; Schlessinger A; Van Schaftingen E; Nassogne MC; Schiff M
    Ann Neurol; 2019 Mar; 85(3):385-395. PubMed ID: 30635937
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Assorted dysfunctions of endosomal alkali cation/proton exchanger
    Ilie A; Boucher A; Park J; Berghuis AM; McKinney RA; Orlowski J
    J Biol Chem; 2020 May; 295(20):7075-7095. PubMed ID: 32277048
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
    Masurel-Paulet A; Piton A; Chancenotte S; Redin C; Thauvin-Robinet C; Henrenger Y; Minot D; Creppy A; Ruffier-Bourdet M; Thevenon J; Kuentz P; Lehalle D; Curie A; Blanchard G; Ghosn E; Bonnet M; Archimbaud-Devilliers M; Huet F; Perret O; Philip N; Mandel JL; Faivre L
    Am J Med Genet A; 2016 Aug; 170(8):2103-10. PubMed ID: 27256868
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).
    Zanni G; Barresi S; Cohen R; Specchio N; Basel-Vanagaite L; Valente EM; Shuper A; Vigevano F; Bertini E
    Epilepsy Res; 2014 May; 108(4):811-5. PubMed ID: 24630051
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments.
    Kerner-Rossi M; Gulinello M; Walkley S; Dobrenis K
    Neurobiol Learn Mem; 2019 Nov; 165():106867. PubMed ID: 29772390
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A Christianson syndrome-linked deletion mutation (Δ287ES288) in SLC9A6 impairs hippocampal neuronal plasticity.
    Gao AYL; Ilie A; Chang PKY; Orlowski J; McKinney RA
    Neurobiol Dis; 2019 Oct; 130():104490. PubMed ID: 31175985
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Case Report: Christianson Syndrome Caused by
    Lan Y; Yi S; Li M; Wang J; Yang Q; Yi S; Chen F; Huang L; Ruan Y; Shen Y; Luo J; Qin Z
    Front Genet; 2021; 12():783841. PubMed ID: 34987551
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.
    Sinajon P; Verbaan D; So J
    Hum Genet; 2016 Aug; 135(8):841-50. PubMed ID: 27142213
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Syndrome of X linked intellectual disability, epilepsy, progressive brain atrophy and large head associated with
    Padmanabha H; Saini AG; Sahu JK; Singhi P
    BMJ Case Rep; 2017 Dec; 2017():. PubMed ID: 29275387
    [No Abstract]   [Full Text] [Related]  

  • 16. Donor Splice Site Variant in
    Petraitytė G; Mikštienė V; Siavrienė E; Cimbalistienė L; Maldžienė Ž; Rančelis T; Vaitėnienė EM; Ambrozaitytė L; Dapkūnas J; Dzindzalieta R; Pranckevičienė E; Kučinskas V; Utkus A; Preikšaitienė E
    Medicina (Kaunas); 2022 Feb; 58(3):. PubMed ID: 35334527
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical and genetic analysis of Christianson syndrome caused by variant of
    Dong Y; Lian R; Jin L; Zhao S; Tao W; Wang L; Li M; Jia T; Chen X; Cao S
    Front Neurol; 2023; 14():1152696. PubMed ID: 37213903
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Loss of SLC9A6/NHE6 impairs nociception in a mouse model of Christianson syndrome.
    Petitjean H; Fatima T; Mouchbahani-Constance S; Davidova A; Ferland CE; Orlowski J; Sharif-Naeini R
    Pain; 2020 Nov; 161(11):2619-2628. PubMed ID: 32569089
    [TBL] [Abstract][Full Text] [Related]  

  • 19. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
    Gilfillan GD; Selmer KK; Roxrud I; Smith R; Kyllerman M; Eiklid K; Kroken M; Mattingsdal M; Egeland T; Stenmark H; Sjøholm H; Server A; Samuelsson L; Christianson A; Tarpey P; Whibley A; Stratton MR; Futreal PA; Teague J; Edkins S; Gecz J; Turner G; Raymond FL; Schwartz C; Stevenson RE; Undlien DE; Strømme P
    Am J Hum Genet; 2008 Apr; 82(4):1003-10. PubMed ID: 18342287
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families.
    Hussain SI; Muhammad N; Shah SA; Rehman AU; Khan SA; Saleha S; Khan YM; Muhammad N; Khan S; Wasif N
    BMC Med Genomics; 2024 Jul; 17(1):176. PubMed ID: 38956580
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.