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6. An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan. Rasool S; Baig JM; Moawia A; Ahmad I; Iqbal M; Waseem SS; Asif M; Abdullah U; Makhdoom EUH; Kaygusuz E; Zakaria M; Ramzan S; Haque SU; Mir A; Anjum I; Fiaz M; Ali Z; Tariq M; Saba N; Hussain W; Budde B; Irshad S; Noegel AA; Höning S; Baig SM; Nürnberg P; Hussain MS Mol Genet Genomic Med; 2020 Sep; 8(9):e1408. PubMed ID: 32677750 [TBL] [Abstract][Full Text] [Related]
7. SFI1 promotes centriole duplication by recruiting USP9X to stabilize the microcephaly protein STIL. Kodani A; Moyer T; Chen A; Holland A; Walsh CA; Reiter JF J Cell Biol; 2019 Jul; 218(7):2185-2197. PubMed ID: 31197030 [TBL] [Abstract][Full Text] [Related]
8. Microcephaly models in the developing zebrafish retinal neuroepithelium point to an underlying defect in metaphase progression. Novorol C; Burkhardt J; Wood KJ; Iqbal A; Roque C; Coutts N; Almeida AD; He J; Wilkinson CJ; Harris WA Open Biol; 2013 Oct; 3(10):130065. PubMed ID: 24153002 [TBL] [Abstract][Full Text] [Related]
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10. Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation. Issa L; Mueller K; Seufert K; Kraemer N; Rosenkotter H; Ninnemann O; Buob M; Kaindl AM; Morris-Rosendahl DJ Orphanet J Rare Dis; 2013 Apr; 8():59. PubMed ID: 23587236 [TBL] [Abstract][Full Text] [Related]
12. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Woods CG; Bond J; Enard W Am J Hum Genet; 2005 May; 76(5):717-28. PubMed ID: 15806441 [TBL] [Abstract][Full Text] [Related]
13. A primary microcephaly protein complex forms a ring around parental centrioles. Sir JH; Barr AR; Nicholas AK; Carvalho OP; Khurshid M; Sossick A; Reichelt S; D'Santos C; Woods CG; Gergely F Nat Genet; 2011 Oct; 43(11):1147-53. PubMed ID: 21983783 [TBL] [Abstract][Full Text] [Related]
14. Spindle positioning in human cells relies on proper centriole formation and on the microcephaly proteins CPAP and STIL. Kitagawa D; Kohlmaier G; Keller D; Strnad P; Balestra FR; Flückiger I; Gönczy P J Cell Sci; 2011 Nov; 124(Pt 22):3884-93. PubMed ID: 22100914 [TBL] [Abstract][Full Text] [Related]
15. Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome segregation. Singhmar P; Kumar A PLoS One; 2011; 6(5):e20397. PubMed ID: 21633703 [TBL] [Abstract][Full Text] [Related]
16. CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly. Sukumaran SK; Stumpf M; Salamon S; Ahmad I; Bhattacharya K; Fischer S; Müller R; Altmüller J; Budde B; Thiele H; Tariq M; Malik NA; Nürnberg P; Baig SM; Hussain MS; Noegel AA Mol Genet Genomics; 2017 Apr; 292(2):365-383. PubMed ID: 28004182 [TBL] [Abstract][Full Text] [Related]
17. Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH). Naveed M; Kazmi SK; Amin M; Asif Z; Islam U; Shahid K; Tehreem S Genet Res (Camb); 2018 Aug; 100():e7. PubMed ID: 30086807 [TBL] [Abstract][Full Text] [Related]
18. Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size. Johnson MB; Sun X; Kodani A; Borges-Monroy R; Girskis KM; Ryu SC; Wang PP; Patel K; Gonzalez DM; Woo YM; Yan Z; Liang B; Smith RS; Chatterjee M; Coman D; Papademetris X; Staib LH; Hyder F; Mandeville JB; Grant PE; Im K; Kwak H; Engelhardt JF; Walsh CA; Bae BI Nature; 2018 Apr; 556(7701):370-375. PubMed ID: 29643508 [TBL] [Abstract][Full Text] [Related]
19. Conserved TCP domain of Sas-4/CPAP is essential for pericentriolar material tethering during centrosome biogenesis. Zheng X; Gooi LM; Wason A; Gabriel E; Mehrjardi NZ; Yang Q; Zhang X; Debec A; Basiri ML; Avidor-Reiss T; Pozniakovsky A; Poser I; Saric T; Hyman AA; Li H; Gopalakrishnan J Proc Natl Acad Sci U S A; 2014 Jan; 111(3):E354-63. PubMed ID: 24385583 [TBL] [Abstract][Full Text] [Related]
20. Separation-of-function MCPH-associated mutations in CPAP affect centriole number and length. Jaiswal S; Sanghi S; Singh P J Cell Sci; 2023 Nov; 136(21):. PubMed ID: 37823337 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]