BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

213 related articles for article (PubMed ID: 34791706)

  • 21. Mixed Neurodevelopmental and Neurodegenerative Pathology in
    Xu M; Ouyang Q; Gong J; Pescosolido MF; Pruett BS; Mishra S; Schmidt M; Jones RN; Gamsiz Uzun ED; Lizarraga SB; Morrow EM
    eNeuro; 2017; 4(6):. PubMed ID: 29349289
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. 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]  

  • 24. 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]  

  • 25. 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]  

  • 26. Amyloid clearance defect in ApoE4 astrocytes is reversed by epigenetic correction of endosomal pH.
    Prasad H; Rao R
    Proc Natl Acad Sci U S A; 2018 Jul; 115(28):E6640-E6649. PubMed ID: 29946028
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Genetic disorders associated with postnatal microcephaly.
    Seltzer LE; Paciorkowski AR
    Am J Med Genet C Semin Med Genet; 2014 Jun; 166C(2):140-55. PubMed ID: 24839169
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Expanding the phenotype of intellectual disability caused by HIVEP2 variants.
    Goldsmith H; Wells A; Sá MJN; Williams M; Heussler H; Buckman M; Pfundt R; de Vries BBA; Goel H
    Am J Med Genet A; 2019 Sep; 179(9):1872-1877. PubMed ID: 31207095
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Loss of endosomal exchanger NHE6 leads to pathological changes in tau in human neurons.
    Fernandez MA; Bah F; Ma L; Lee Y; Schmidt M; Welch E; Morrow EM; Young-Pearse TL
    Stem Cell Reports; 2022 Sep; 17(9):2111-2126. PubMed ID: 36055242
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Early lysosome defects precede neurodegeneration with amyloid-β and tau aggregation in NHE6-null rat brain.
    Lee Y; Miller MR; Fernandez MA; Berg EL; Prada AM; Ouyang Q; Schmidt M; Silverman JL; Young-Pearse TL; Morrow EM
    Brain; 2022 Sep; 145(9):3187-3202. PubMed ID: 34928329
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Christianson syndrome in a patient with an interstitial Xq26.3 deletion.
    Tzschach A; Ullmann R; Ahmed A; Martin T; Weber G; Decker-Schwering O; Pauly F; Shamdeen MG; Reith W; Oehl-Jaschkowitz B
    Am J Med Genet A; 2011 Nov; 155A(11):2771-4. PubMed ID: 21932316
    [TBL] [Abstract][Full Text] [Related]  

  • 32. If not Angelman, what is it? A review of Angelman-like syndromes.
    Tan WH; Bird LM; Thibert RL; Williams CA
    Am J Med Genet A; 2014 Apr; 164A(4):975-92. PubMed ID: 24779060
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.
    Lambert S; Maystadt I; Boulanger S; Vrielynck P; Destrée A; Lederer D; Moortgat S
    Eur J Med Genet; 2016 Oct; 59(10):522-5. PubMed ID: 27465203
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Human iPSC lines from a Christianson syndrome patient with NHE6 W523X mutation, a biologically-related control, and CRISPR/Cas9 gene-corrected isogenic controls.
    Ma L; Schmidt M; Morrow EM
    Stem Cell Res; 2021 Jul; 54():102435. PubMed ID: 34182254
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?
    Mathieu ML; de Bellescize J; Till M; Flurin V; Labalme A; Chatron N; Sanlaville D; Chemaly N; des Portes V; Ostrowsky K; Arzimanoglou A; Lesca G
    Eur J Paediatr Neurol; 2018 Nov; 22(6):1124-1132. PubMed ID: 30126759
    [TBL] [Abstract][Full Text] [Related]  

  • 36. RT-PCR analysis of mRNA revealed the splice-altering effect of rare intronic variants in monogenic disorders.
    Zhang X; Qiu W; Liu H; Ye X; Sun Y; Fan Y; Yu Y
    Ann Hum Genet; 2020 Nov; 84(6):456-462. PubMed ID: 32776513
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition.
    Garbern JY; Neumann M; Trojanowski JQ; Lee VM; Feldman G; Norris JW; Friez MJ; Schwartz CE; Stevenson R; Sima AA
    Brain; 2010 May; 133(Pt 5):1391-402. PubMed ID: 20395263
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies.
    Lizarraga SB; Ma L; Maguire AM; van Dyck LI; Wu Q; Ouyang Q; Kavanaugh BC; Nagda D; Livi LL; Pescosolido MF; Schmidt M; Alabi S; Cowen MH; Brito-Vargas P; Hoffman-Kim D; Gamsiz Uzun ED; Schlessinger A; Jones RN; Morrow EM
    Sci Transl Med; 2021 Feb; 13(580):. PubMed ID: 33568516
    [TBL] [Abstract][Full Text] [Related]  

  • 39. X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction.
    Strømme P; Dobrenis K; Sillitoe RV; Gulinello M; Ali NF; Davidson C; Micsenyi MC; Stephney G; Ellevog L; Klungland A; Walkley SU
    Brain; 2011 Nov; 134(Pt 11):3369-83. PubMed ID: 21964919
    [TBL] [Abstract][Full Text] [Related]  

  • 40. An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome.
    Boschann F; Fischer-Zirnsak B; Wienker TF; Holtgrewe M; Seelow D; Eichhorn B; Döhnert S; Fahsold R; Horn D; Graul-Neumann LM
    Eur J Med Genet; 2020 Sep; 63(9):103973. PubMed ID: 32505691
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.