scholarly article | Q13442814 |
P50 | author | Peter Nürnberg | Q2077335 |
Pierre Gönczy | Q43964316 | ||
Michel O Steinmetz | Q47451321 | ||
Verena Rupp | Q56956936 | ||
Shahid M Baig | Q89012050 | ||
Janine Altmüller | Q90297776 | ||
Holger Thiele | Q110770756 | ||
Gudrun Nürnberg | Q28320150 | ||
Janine Altmüller | Q30004014 | ||
Michael R. Speicher | Q30361836 | ||
P2093 | author name string | Muhammad Ansar | |
John B Vincent | |||
Wolfgang Höhne | |||
Muhammad S Hussain | |||
Christian Enzinger | |||
Muzammil A Khan | |||
Meritxell Orpinell | |||
Christian Windpassinger | |||
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A systematic approach to mapping recessive disease genes in individuals from outbred populations | Q21145017 | ||
The human microcephaly protein STIL interacts with CPAP and is required for procentriole formation | Q24294326 | ||
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations | Q24296941 | ||
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture | Q24301645 | ||
WDR62 is associated with the spindle pole and is mutated in human microcephaly | Q24301673 | ||
Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation | Q24304459 | ||
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly | Q24315121 | ||
Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis | Q24318539 | ||
Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly | Q24337030 | ||
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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size | Q24570115 | ||
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Regulated HsSAS-6 levels ensure formation of a single procentriole per centriole during the centrosome duplication cycle | Q24647101 | ||
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Caenorhabditis elegans centriolar protein SAS-6 forms a spiral that is consistent with imparting a ninefold symmetry | Q27678771 | ||
Spindle positioning in human cells relies on proper centriole formation and on the microcephaly proteins CPAP and STIL. | Q39440190 | ||
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Genetic heterogeneity in Pakistani microcephaly families. | Q41933585 | ||
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DSAS-6 organizes a tube-like centriole precursor, and its absence suggests modularity in centriole assembly. | Q52682166 | ||
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Purification and properties of a Ca(2+)-independent barbed-end actin filament capping protein, CapZ, from human polymorphonuclear leukocytes | Q28279761 | ||
Asymmetric centrosome inheritance maintains neural progenitors in the neocortex | Q28505215 | ||
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings | Q28769509 | ||
Reorganizing the protein space at the Universal Protein Resource (UniProt) | Q29547338 | ||
Phenotypic profiling of the human genome by time-lapse microscopy reveals cell division genes | Q29615188 | ||
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children | Q29615807 | ||
ASPM is a major determinant of cerebral cortical size | Q29618492 | ||
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Overly long centrioles and defective cell division upon excess of the SAS-4-related protein CPAP. | Q30497500 | ||
Primary microcephaly: do all roads lead to Rome? | Q33629131 | ||
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. | Q33960544 | ||
Reconstruction of the centrosome cycle from cryoelectron micrographs | Q34065734 | ||
Molecular genetics of human microcephaly | Q34191940 | ||
Centriole assembly requires both centriolar and pericentriolar material proteins | Q34372320 | ||
Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. | Q34768428 | ||
Cep63 and cep152 cooperate to ensure centriole duplication | Q34921658 | ||
A primary microcephaly protein complex forms a ring around parental centrioles. | Q35822248 | ||
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function | Q36036561 | ||
A second-generation combined linkage physical map of the human genome | Q36177402 | ||
What primary microcephaly can tell us about brain growth. | Q36531152 | ||
Microcephalin: a causal link between impaired damage response signalling and microcephaly | Q36653018 | ||
Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly | Q37156137 | ||
Homozygosity mapping: one more tool in the clinical geneticist's toolbox | Q37687830 | ||
Towards a molecular architecture of centriole assembly | Q38018198 | ||
Investigating microcephaly | Q38118290 | ||
The application of next-generation sequencing in the autozygosity mapping of human recessive diseases | Q38125937 | ||
Kinetochore KMN network gene CASC5 mutated in primary microcephaly | Q39277531 | ||
P433 | issue | 22 | |
P921 | main subject | Pakistan | Q843 |
microcephaly | Q431643 | ||
Autosomal recessive primary microcephaly | Q22965392 | ||
primary microcephaly | Q60195167 | ||
P304 | page(s) | 5940-5949 | |
P577 | publication date | 2014-06-20 | |
P1433 | published in | Human Molecular Genetics | Q2720965 |
P1476 | title | A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family | |
P478 | volume | 23 |
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Q51609994 | A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family. |
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Q36722457 | ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size |
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Q36197553 | Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities |
Q41928351 | Chromosome structure deficiencies in MCPH1 syndrome |
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Q41921978 | Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing |
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Q92258721 | The Mitotic Apparatus and Kinetochores in Microcephaly and Neurodevelopmental Diseases |
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Q47595678 | The evolution of cortical development: the synapsid-diapsid divergence. |
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Q47708439 | Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive. |
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