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 *

68 related articles for article (PubMed ID: 23956177)

  • 1. Mutation in TTI2 reveals a role for triple T complex in human brain development.
    Langouët M; Saadi A; Rieunier G; Moutton S; Siquier-Pernet K; Fernet M; Nitschke P; Munnich A; Stern MH; Chaouch M; Colleaux L
    Hum Mutat; 2013 Nov; 34(11):1472-6. PubMed ID: 23956177
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Maize
    Garcia N; Li Y; Dooner HK; Messing J
    Proc Natl Acad Sci U S A; 2017 May; 114(20):5165-5170. PubMed ID: 28461460
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family.
    Wang R; Han S; Liu H; Khan A; Xiaerbati H; Yu X; Huang J; Zhang X
    Front Genet; 2019; 10():1060. PubMed ID: 31737043
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.
    Ziegler A; Bader P; McWalter K; Douglas G; Houdayer C; Bris C; Rouleau S; Coutant R; Colin E; Bonneau D
    Clin Genet; 2019 Oct; 96(4):354-358. PubMed ID: 31290144
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Saccharomyces cerevisiae Tti2 Regulates PIKK Proteins and Stress Response.
    Hoffman KS; Duennwald ML; Karagiannis J; Genereaux J; McCarton AS; Brandl CJ
    G3 (Bethesda); 2016 Jun; 6(6):1649-59. PubMed ID: 27172216
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
    Serey-Gaut M; Cortes M; Makrythanasis P; Suri M; Taylor AMR; Sullivan JA; Asleh AN; Mitra J; Dar MA; McNamara A; Shashi V; Dugan S; Song X; Rosenfeld JA; Cabrol C; Iwaszkiewicz J; Zoete V; Pehlivan D; Akdemir ZC; Roeder ER; Littlejohn RO; Dibra HK; Byrd PJ; Stewart GS; Geckinli BB; Posey J; Westman R; Jungbluth C; Eason J; Sachdev R; Evans CA; Lemire G; VanNoy GE; O'Donnell-Luria A; Mau-Them FT; Juven A; Piard J; Nixon CY; Zhu Y; Ha T; Buckley MF; Thauvin C; Essien Umanah GK; Van Maldergem L; Lupski JR; Roscioli T; Dawson VL; Dawson TM; Antonarakis SE
    Am J Hum Genet; 2023 Mar; 110(3):499-515. PubMed ID: 36724785
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.
    You J; Sobreira NL; Gable DL; Jurgens J; Grange DK; Belnap N; Siniard A; Szelinger S; Schrauwen I; Richholt RF; Vallee SE; Dinulos MBP; Valle D; Armanios M; Hoover-Fong J
    Am J Hum Genet; 2016 May; 98(5):909-918. PubMed ID: 27132593
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.
    Alazami AM; Hijazi H; Al-Dosari MS; Shaheen R; Hashem A; Aldahmesh MA; Mohamed JY; Kentab A; Salih MA; Awaji A; Masoodi TA; Alkuraya FS
    J Med Genet; 2013 Jul; 50(7):425-30. PubMed ID: 23620220
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report).
    Qarnain Z; Khan F; Akbar F; Kirmani S
    Case Rep Genet; 2022; 2022():2766957. PubMed ID: 35990009
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic evidence links the ASTRA protein chaperone component Tti2 to the SAGA transcription factor Tra1.
    Genereaux J; Kvas S; Dobransky D; Karagiannis J; Gloor GB; Brandl CJ
    Genetics; 2012 Jul; 191(3):765-80. PubMed ID: 22505622
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.
    Alazami AM; Al-Owain M; Alzahrani F; Shuaib T; Al-Shamrani H; Al-Falki YH; Al-Qahtani SM; Alsheddi T; Colak D; Alkuraya FS
    Hum Mutat; 2012 Oct; 33(10):1429-34. PubMed ID: 22865833
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Tel2 structure and function in the Hsp90-dependent maturation of mTOR and ATR complexes.
    Takai H; Xie Y; de Lange T; Pavletich NP
    Genes Dev; 2010 Sep; 24(18):2019-30. PubMed ID: 20801936
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies.
    Casey J; Jenkinson A; Magee A; Ennis S; Monavari A; Green A; Lynch SA; Crushell E; Hughes J
    Clin Dysmorphol; 2016 Oct; 25(4):146-51. PubMed ID: 27295358
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
    Kvarnung M; Nilsson D; Lindstrand A; Korenke GC; Chiang SC; Blennow E; Bergmann M; Stödberg T; Mäkitie O; Anderlid BM; Bryceson YT; Nordenskjöld M; Nordgren A
    J Med Genet; 2013 Aug; 50(8):521-8. PubMed ID: 23636107
    [TBL] [Abstract][Full Text] [Related]  

  • 15. TTT (Tel2-Tti1-Tti2) Complex, the Co-Chaperone of PIKKs and a Potential Target for Cancer Chemotherapy.
    Bhadra S; Xu YJ
    Int J Mol Sci; 2023 May; 24(9):. PubMed ID: 37175973
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.
    Buchert R; Uebe S; Radwan F; Tawamie H; Issa S; Shimazaki H; Henneke M; Ekici AB; Reis A; Abou Jamra R
    Eur J Med Genet; 2013 Nov; 56(11):599-602. PubMed ID: 24080142
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
    Courcet JB; Faivre L; Malzac P; Masurel-Paulet A; Lopez E; Callier P; Lambert L; Lemesle M; Thevenon J; Gigot N; Duplomb L; Ragon C; Marle N; Mosca-Boidron AL; Huet F; Philippe C; Moncla A; Thauvin-Robinet C
    J Med Genet; 2012 Dec; 49(12):731-6. PubMed ID: 23099646
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.
    Shaheen R; Ansari S; Alshammari MJ; Alkhalidi H; Alrukban H; Eyaid W; Alkuraya FS
    J Med Genet; 2013 Jul; 50(7):431-6. PubMed ID: 23606727
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Structure of the Human TELO2-TTI1-TTI2 Complex.
    Kim Y; Park J; Joo SY; Kim BG; Jo A; Lee H; Cho Y
    J Mol Biol; 2022 Jan; 434(2):167370. PubMed ID: 34838521
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Branching the Tel2 pathway for exact fit on phosphatidylinositol 3-kinase-related kinases.
    Sugimoto K
    Curr Genet; 2018 Oct; 64(5):965-970. PubMed ID: 29470645
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.