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 *

133 related articles for article (PubMed ID: 28686357)

  • 1. Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly.
    Harel T; Hacohen N; Shaag A; Gomori M; Singer A; Elpeleg O; Meiner V
    Am J Med Genet A; 2017 Sep; 173(9):2539-2544. PubMed ID: 28686357
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
    Di Donato N; Jean YY; Maga AM; Krewson BD; Shupp AB; Avrutsky MI; Roy A; Collins S; Olds C; Willert RA; Czaja AM; Johnson R; Stover JA; Gottlieb S; Bartholdi D; Rauch A; Goldstein A; Boyd-Kyle V; Aldinger KA; Mirzaa GM; Nissen A; Brigatti KW; Puffenberger EG; Millen KJ; Strauss KA; Dobyns WB; Troy CM; Jinks RN
    Am J Hum Genet; 2016 Nov; 99(5):1117-1129. PubMed ID: 27773430
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
    Polla DL; Rahikkala E; Bode MK; Määttä T; Varilo T; Loman T; Philips AK; Kurki M; Palotie A; Körkkö J; Vieira P; Avela K; Jacquemin V; Pirson I; Abramowicz M; de Brouwer APM; Kuismin O; van Bokhoven H; Järvelä I
    Eur J Hum Genet; 2019 Aug; 27(8):1235-1243. PubMed ID: 30914828
    [TBL] [Abstract][Full Text] [Related]  

  • 4. CRADD and USP44 mutations in intellectual disability, mild lissencephaly, brain atrophy, developmental delay, strabismus, behavioural problems and skeletal anomalies.
    Koprulu M; Shabbir RMK; Zaman Q; Nalbant G; Malik S; Tolun A
    Eur J Med Genet; 2021 Apr; 64(4):104181. PubMed ID: 33647455
    [TBL] [Abstract][Full Text] [Related]  

  • 5. RAIDD mutations underlie the pathogenesis of thin lissencephaly (TLIS).
    Ha HJ; Park HH
    PLoS One; 2018; 13(10):e0205042. PubMed ID: 30281648
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.
    Sheikh TI; Vasli N; Pastore S; Kharizi K; Harripaul R; Fattahi Z; Pande S; Naeem F; Hussain A; Mir A; Islam O; Girisha KM; Irfan M; Ayub M; Schwarzer C; Najmabadi H; Shukla A; Sladky VC; Braun VZ; Garcia-Carpio I; Villunger A; Vincent JB
    Transl Psychiatry; 2021 Jan; 11(1):1. PubMed ID: 33414379
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features.
    Zaki MS; Accogli A; Mirzaa G; Rahman F; Mohammed H; Porras-Hurtado GL; Efthymiou S; Maqbool S; Shukla A; Vincent JB; Hussain A; Mir A; Beetz C; Leubauer A; Houlden H; Gleeson JG; Maroofian R
    Eur J Hum Genet; 2021 Aug; 29(8):1226-1234. PubMed ID: 34163010
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Prenatal Diagnosis of Lissencephaly Associated with Biallelic Pathologic Variants in the COQ2 Gene.
    Rosado Santos R; Rodrigues M; Loureiro T
    Acta Med Port; 2023 Jun; 36(6):428-431. PubMed ID: 36168972
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular basis of neurodevelopmental disorders caused by pathogenic variants of PIDD.
    Ha HJ; Park HH
    Biochem Biophys Res Commun; 2023 Feb; 645():147-153. PubMed ID: 36689811
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
    Mitani T; Punetha J; Akalin I; Pehlivan D; Dawidziuk M; Coban Akdemir Z; Yilmaz S; Aslan E; Hunter JV; Hijazi H; Grochowski CM; Jhangiani SN; Karaca E; Fatih JM; Iwanowski P; Gambin T; Wlasienko P; Goszczanska-Ciuchta A; Bekiesinska-Figatowska M; Hosseini M; Arzhangi S; Najmabadi H; Rosenfeld JA; Du H; Marafi D; Blaser S; Teitelbaum R; Silver R; ; Posey JE; Ropers HH; Gibbs RA; Wiszniewski W; Lupski JR; Chitayat D; Kahrizi K; Gawlinski P
    Am J Hum Genet; 2019 Nov; 105(5):1005-1015. PubMed ID: 31630790
    [TBL] [Abstract][Full Text] [Related]  

  • 11. PIDD mediates and stabilizes the interaction between RAIDD and caspase-2 for the PIDDosome assembly.
    Jang TH; Park HH
    BMB Rep; 2013 Sep; 46(9):471-6. PubMed ID: 24064063
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.
    Uctepe E; Vona B; Esen FN; Sonmez FM; Smol T; Tümer S; Mancılar H; Geylan Durgun DE; Boute O; Moghbeli M; Ghayoor Karimiani E; Hashemi N; Bakhshoodeh B; Kim HG; Maroofian R; Yesilyurt A
    Eur J Hum Genet; 2024 Jan; 32(1):52-60. PubMed ID: 37880421
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Analysis of mutation effects on PIDDosome core complex.
    Jang TH; Seo EK; Park HH
    Appl Biochem Biotechnol; 2013 May; 170(1):210-8. PubMed ID: 23494218
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.
    Jang MA; Woo HI; Kim JW; Lee J; Ki CS
    Pediatr Neurol; 2013 May; 48(5):411-4. PubMed ID: 23583063
    [TBL] [Abstract][Full Text] [Related]  

  • 15. In utero MR imaging in fetuses at high risk of lissencephaly.
    Williams F; Griffiths PD
    Br J Radiol; 2017 Apr; 90(1072):20160902. PubMed ID: 28134568
    [TBL] [Abstract][Full Text] [Related]  

  • 16. CRADD, a novel human apoptotic adaptor molecule for caspase-2, and FasL/tumor necrosis factor receptor-interacting protein RIP.
    Ahmad M; Srinivasula SM; Wang L; Talanian RV; Litwack G; Fernandes-Alnemri T; Alnemri ES
    Cancer Res; 1997 Feb; 57(4):615-9. PubMed ID: 9044836
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Total recall: the role of PIDDosome components in neurodegeneration.
    Volik PI; Kopeina GS; Zhivotovsky B; Zamaraev AV
    Trends Mol Med; 2023 Dec; 29(12):996-1013. PubMed ID: 37716905
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
    Chandler N; Best S; Hayward J; Faravelli F; Mansour S; Kivuva E; Tapon D; Male A; DeVile C; Chitty LS
    Genet Med; 2018 Nov; 20(11):1430-1437. PubMed ID: 29595812
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Prenatal diagnosis of lissencephaly: A case report.
    Cerovac N; Terzić M; Borković M; Divac N; Stojanović R; Prostran M
    Vojnosanit Pregl; 2016 Jan; 73(1):77-82. PubMed ID: 26964389
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Missed diagnosis of lissencephaly after prenatal diagnosis: A case report.
    Liu M; Liu X; Wu J; Sha J; Zhai J; Zhang B
    Medicine (Baltimore); 2023 Feb; 102(7):e33014. PubMed ID: 36800618
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.