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 *

208 related articles for article (PubMed ID: 21835305)

  • 1. Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.
    Poulton CJ; Schot R; Kia SK; Jones M; Verheijen FW; Venselaar H; de Wit MC; de Graaff E; Bertoli-Avella AM; Mancini GM
    Am J Hum Genet; 2011 Aug; 89(2):265-76. PubMed ID: 21835305
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS).
    Abdel-Salam GM; Schaffer AE; Zaki MS; Dixon-Salazar T; Mostafa IS; Afifi HH; Gleeson JG
    Am J Med Genet A; 2012 Nov; 158A(11):2788-96. PubMed ID: 22991235
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.
    Shalev SA; Tenenbaum-Rakover Y; Horovitz Y; Paz VP; Ye H; Carmody D; Highland HM; Boerwinkle E; Hanis CL; Muzny DM; Gibbs RA; Bell GI; Philipson LH; Greeley SA
    Pediatr Diabetes; 2014 May; 15(3):252-6. PubMed ID: 24138066
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case.
    Rjiba K; Soyah N; Kammoun M; Hadj Hmida I; Saad A; Mcelreavey K; Mougou-Zerelli S
    Eur J Med Genet; 2021 Sep; 64(9):104285. PubMed ID: 34229114
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A New Variant of the IER3IP1 Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from Turkey.
    Söbü E; Kaya Özçora GD; Yılmaz Güleç E; Şahinoğlu B; Tahmiscioğlu Bucak F
    J Clin Res Pediatr Endocrinol; 2022 Nov; ():. PubMed ID: 36416459
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature.
    Valenzuela I; Boronat S; Martínez-Sáez E; Clemente M; Sánchez-Montañez Á; Munell F; Carrascosa A; Macaya A
    Eur J Med Genet; 2017 Oct; 60(10):517-520. PubMed ID: 28711742
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Essential requirement for IER3IP1 in B cell development.
    Zhong X; Moresco JJ; Keller K; Lazaro DR; Ely C; Moresco EMY; Beutler B; Choi JH
    Proc Natl Acad Sci U S A; 2023 Nov; 120(46):e2312810120. PubMed ID: 37934820
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus.
    de Wit MC; de Coo IF; Julier C; Delépine M; Lequin MH; van de Laar I; Sibbles BJ; Bruining GJ; Mancini GM
    Neurogenetics; 2006 Nov; 7(4):259-63. PubMed ID: 16972080
    [TBL] [Abstract][Full Text] [Related]  

  • 9. IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport.
    Anitei M; Bruno F; Valkova C; Dau T; Cirri E; Mestres I; Calegari F; Kaether C
    Cell Mol Life Sci; 2024 Aug; 81(1):334. PubMed ID: 39115595
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.
    Desir J; Cassart M; David P; Van Bogaert P; Abramowicz M
    Am J Med Genet A; 2008 Jun; 146A(11):1439-43. PubMed ID: 18452193
    [TBL] [Abstract][Full Text] [Related]  

  • 11. YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
    De Franco E; Lytrivi M; Ibrahim H; Montaser H; Wakeling MN; Fantuzzi F; Patel K; Demarez C; Cai Y; Igoillo-Esteve M; Cosentino C; Lithovius V; Vihinen H; Jokitalo E; Laver TW; Johnson MB; Sawatani T; Shakeri H; Pachera N; Haliloglu B; Ozbek MN; Unal E; Yıldırım R; Godbole T; Yildiz M; Aydin B; Bilheu A; Suzuki I; Flanagan SE; Vanderhaeghen P; Senée V; Julier C; Marchetti P; Eizirik DL; Ellard S; Saarimäki-Vire J; Otonkoski T; Cnop M; Hattersley AT
    J Clin Invest; 2020 Dec; 130(12):6338-6353. PubMed ID: 33164986
    [TBL] [Abstract][Full Text] [Related]  

  • 12. WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
    Cavallin M; Rujano MA; Bednarek N; Medina-Cano D; Bernabe Gelot A; Drunat S; Maillard C; Garfa-Traore M; Bole C; Nitschké P; Beneteau C; Besnard T; Cogné B; Eveillard M; Kuster A; Poirier K; Verloes A; Martinovic J; Bidat L; Rio M; Lyonnet S; Reilly ML; Boddaert N; Jenneson-Liver M; Motte J; Doco-Fenzy M; Chelly J; Attie-Bitach T; Simons M; Cantagrel V; Passemard S; Baffet A; Thomas S; Bahi-Buisson N
    Brain; 2017 Oct; 140(10):2597-2609. PubMed ID: 28969387
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Transcriptional regulation of IER3IP1 gene by tumor necrosis factor-alpha and Sp family proteins.
    Yiu WH; Yeung TL; Poon JW; Tsui SK; Fung KP; Waye MM
    Cell Biochem Funct; 2010 Jan; 28(1):31-7. PubMed ID: 19885854
    [TBL] [Abstract][Full Text] [Related]  

  • 14. IER3IP1 is critical for maintaining glucose homeostasis through regulating the endoplasmic reticulum function and survival of β cells.
    Yang J; Zhen J; Feng W; Fan Z; Ding L; Yang X; Huang Y; Shu H; Xie J; Li X; Qiao J; Fan Y; Sun J; Li N; Liu T; Wang S; Zhang X; Arvan P; Liu M
    Proc Natl Acad Sci U S A; 2022 Nov; 119(45):e2204443119. PubMed ID: 36322741
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Safe use of the ketogenic diet in an infant with microcephaly, epilepsy, and diabetes syndrome: a case report.
    Zegarra WA; Gallentine WB; Ruzhnikov MR; McAndrews CA; Gloyn AL; Addala A
    BMC Pediatr; 2023 Sep; 23(1):453. PubMed ID: 37689631
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.
    Bhat V; Girimaji SC; Mohan G; Arvinda HR; Singhmar P; Duvvari MR; Kumar A
    Clin Genet; 2011 Dec; 80(6):532-40. PubMed ID: 21496009
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.
    Swoboda KJ; Margraf RL; Carey JC; Zhou H; Newcomb TM; Coonrod E; Durtschi J; Mallempati K; Kumanovics A; Katz BE; Voelkerding KV; Opitz JM
    Am J Med Genet A; 2014 Jan; 164A(1):17-28. PubMed ID: 24259288
    [TBL] [Abstract][Full Text] [Related]  

  • 18. RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
    Shamseldin H; Alazami AM; Manning M; Hashem A; Caluseiu O; Tabarki B; Esplin E; Schelley S; Innes AM; Parboosingh JS; Lamont R; ; Majewski J; Bernier FP; Alkuraya FS
    Am J Hum Genet; 2015 Dec; 97(6):862-8. PubMed ID: 26608784
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases.
    Collardeau-Frachon S; Vasiljevic A; Jouvet A; Bouvier R; Senée V; Nicolino M
    Pediatr Diabetes; 2015 Nov; 16(7):510-20. PubMed ID: 25131821
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary.
    Sümegi A; Hendrik Z; Gáll T; Felszeghy E; Szakszon K; Antal-Szalmás P; Beke L; Papp Á; Méhes G; Balla J; Balla G
    BMC Med Genet; 2020 Mar; 21(1):61. PubMed ID: 32216767
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.