| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1013752262 |
| P356 | DOI | 10.1007/S00439-014-1443-3 |
| P8608 | Fatcat ID | release_c46erji2mraf5lsmdpg5kdg3pu |
| P3181 | OpenCitations bibliographic resource ID | 5085877 |
| P932 | PMC publication ID | 4415612 |
| P698 | PubMed publication ID | 24748105 |
| P5875 | ResearchGate publication ID | 261762577 |
| P50 | author | Don W. Cleveland | Q24004784 |
| Benjamin Vitre | Q42809378 | ||
| Mark O'Driscoll | Q55149611 | ||
| Joseph G Gleeson | Q74844635 | ||
| William B. Dobyns | Q30445602 | ||
| P2093 | author name string | Alex R Paciorkowski | |
| Ghayda M Mirzaa | |||
| Gillian Carpenter | |||
| Iga Abramowicz | |||
| P2860 | cites work | Human Blinkin/AF15q14 is required for chromosome alignment and the mitotic checkpoint through direct interaction with Bub1 and BubR1 | Q24299555 |
| Centrosome-associated Chk1 prevents premature activation of cyclin-B-Cdk1 kinase | Q24301325 | ||
| Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly | Q24302120 | ||
| CEP152 is a genome maintenance protein disrupted in Seckel syndrome | Q24312725 | ||
| Centromere-associated protein-E is essential for the mammalian mitotic checkpoint to prevent aneuploidy due to single chromosome loss | Q24316292 | ||
| Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells | Q24550947 | ||
| Gene silencing of CENP-E by small interfering RNA in HeLa cells leads to missegregation of chromosomes after a mitotic delay | Q24561583 | ||
| Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum | Q24570114 | ||
| A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size | Q24570115 | ||
| Mutations in the pre-replication complex cause Meier-Gorlin syndrome | Q24629357 | ||
| The crystal structure of the N-terminal region of BUB1 provides insight into the mechanism of BUB1 recruitment to kinetochores | Q24658416 | ||
| Functional interaction between BLM helicase and 53BP1 in a Chk1-mediated pathway during S-phase arrest | Q24677047 | ||
| Microtubule capture by CENP-E silences BubR1-dependent mitotic checkpoint signaling | Q24679267 | ||
| CtIP Mutations Cause Seckel and Jawad Syndromes | Q27335946 | ||
| The spindle-assembly checkpoint in space and time | Q27860766 | ||
| A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome | Q28183834 | ||
| Malformation syndromes. A selected miscellany | Q28254117 | ||
| Mutations in the pericentrin (PCNT) gene cause primordial dwarfism | Q28263536 | ||
| Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome | Q41935686 | ||
| Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. | Q42698454 | ||
| Protein interaction domain mapping of human kinetochore protein Blinkin reveals a consensus motif for binding of spindle assembly checkpoint proteins Bub1 and BubR1 | Q42707082 | ||
| Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome | Q45170252 | ||
| CENP-E as an essential component of the mitotic checkpoint in vitro. | Q46518322 | ||
| The vertebrate mitotic checkpoint protein BUBR1 is an unusual pseudokinase. | Q46991397 | ||
| Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. | Q52087557 | ||
| Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome. | Q54622759 | ||
| Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation | Q55671567 | ||
| Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations | Q57199239 | ||
| Novel CENPJ mutation causes Seckel syndrome | Q28284221 | ||
| Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome | Q28485037 | ||
| Unstable kinetochore-microtubule capture and chromosomal instability following deletion of CENP-E | Q28510724 | ||
| ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data | Q29547161 | ||
| Centromeres and kinetochores: from epigenetics to mitotic checkpoint signaling | Q29547850 | ||
| ASPM is a major determinant of cerebral cortical size | Q29618492 | ||
| Extreme growth failure is a common presentation of ligase IV deficiency | Q33410904 | ||
| Primary microcephaly: do all roads lead to Rome? | Q33629131 | ||
| Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. | Q33960544 | ||
| The life and miracles of kinetochores | Q34018608 | ||
| Aurora kinases and protein phosphatase 1 mediate chromosome congression through regulation of CENP-E. | Q34066062 | ||
| DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency | Q34108148 | ||
| Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism | Q34281379 | ||
| CENP-E--dependent BubR1 autophosphorylation enhances chromosome alignment and the mitotic checkpoint | Q34288537 | ||
| A small step for the cell, a giant leap for mankind: a hypothesis of neocortical expansion during evolution | Q34289050 | ||
| Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome | Q34629244 | ||
| A primary microcephaly protein complex forms a ring around parental centrioles. | Q35822248 | ||
| Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. | Q36429017 | ||
| Cyclin-like accumulation and loss of the putative kinetochore motor CENP-E results from coupling continuous synthesis with specific degradation at the end of mitosis. | Q36534871 | ||
| CENP-E combines a slow, processive motor and a flexible coiled coil to produce an essential motile kinetochore tether | Q36625807 | ||
| Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1 | Q37267614 | ||
| Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly | Q37304298 | ||
| Genomic analysis of primordial dwarfism reveals novel disease genes | Q37550236 | ||
| Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects | Q37623172 | ||
| Lynx: a database and knowledge extraction engine for integrative medicine | Q37661892 | ||
| Spindle assembly checkpoint: the third decade | Q37956287 | ||
| Establishment of the vertebrate kinetochores | Q38021698 | ||
| CENP-E forms a link between attachment of spindle microtubules to kinetochores and the mitotic checkpoint | Q38309596 | ||
| Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling | Q38632163 | ||
| Kinetochore KMN network gene CASC5 mutated in primary microcephaly | Q39277531 | ||
| Centrosomal localization of DNA damage checkpoint proteins | Q40195882 | ||
| Regulation of mitotic entry by microcephalin and its overlap with ATR signalling | Q40265990 | ||
| Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome | Q40333436 | ||
| Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway. | Q40501657 | ||
| Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities | Q41786740 | ||
| Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. | Q41920923 | ||
| P433 | issue | 8 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | microcephaly | Q431643 |
| kinetochore | Q908912 | ||
| chromosome segregation | Q5113927 | ||
| Centromere protein E | Q21108288 | ||
| microcephalic primordial dwarfism | Q55787615 | ||
| P304 | page(s) | 1023-39 | |
| P577 | publication date | 2014-08-01 | |
| P1433 | published in | Human Genetics | Q5937167 |
| P1476 | title | Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism | |
| P478 | volume | 133 |
| Q41918406 | "D40/KNL1/CASC5 and Autosomal Recessive Primary Microcephaly". |
| Q47118279 | A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure |
| Q41920199 | A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family |
| Q36722457 | ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size |
| Q28261525 | Advances in Skeletal Dysplasia Genetics |
| Q42289714 | An interaction network of mental disorder proteins in neural stem cells |
| Q41923113 | CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly |
| Q89944714 | CITK Loss Inhibits Growth of Group 3 and Group 4 Medulloblastoma Cells and Sensitizes Them to DNA-Damaging Agents |
| Q38870315 | Centrosome and spindle assembly checkpoint loss leads to neural apoptosis and reduced brain size |
| Q90821321 | Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH) |
| Q41919525 | Consequences of Centrosome Dysfunction During Brain Development |
| Q36045319 | De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment. |
| Q37685924 | Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly |
| Q41921320 | Genetic heterogeneity in Pakistani microcephaly families revisited. |
| Q40732783 | Germline mutations causing familial lung cancer |
| Q41919512 | Kinetochore Malfunction in Human Pathologies |
| Q48235466 | MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome. |
| Q90634984 | MEKK3 coordinates with FBW7 to regulate WDR62 stability and neurogenesis |
| Q37728193 | Mechanisms of Chromosome Congression during Mitosis. |
| Q41921978 | Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing |
| Q35077279 | Morphological and functional aspects of progenitors perturbed in cortical malformations |
| Q49918080 | Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening |
| Q32884505 | PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment |
| Q34672718 | Primordial dwarfism: overview of clinical and genetic aspects. |
| Q50856198 | Protein Complexes in the Nucleus: The Control of Chromosome Segregation. |
| Q39417013 | Refining the phenotype associated with CASC5 mutation |
| Q64911835 | Robust elimination of genome-damaged cells safeguards against brain somatic aneuploidy following Knl1 deletion. |
| Q51579824 | Steroid Pathway Genes and Neonatal Respiratory Distress After Betamethasone Use in Anticipated Preterm Birth. |
| Q47390446 | The E3 ubiquitin ligase APC/CCdh1 degrades MCPH1 after MCPH1-βTrCP2-Cdc25A-mediated mitotic entry to ensure neurogenesis. |
| Q92258721 | The Mitotic Apparatus and Kinetochores in Microcephaly and Neurodevelopmental Diseases |
| Q47595678 | The evolution of cortical development: the synapsid-diapsid divergence. |
| Q47708439 | Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive. |
| Q60922246 | Whole-genome sequencing in a family with twin boys with autism and intellectual disability suggests multimodal polygenic risk |
Search more.