A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

scientific article

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1093/HMG/DDU318
P698PubMed publication ID24951542
P5875ResearchGate publication ID263297144

P50authorPeter NürnbergQ2077335
Pierre GönczyQ43964316
Michel O SteinmetzQ47451321
Verena RuppQ56956936
Shahid M BaigQ89012050
Janine AltmüllerQ90297776
Holger ThieleQ110770756
Gudrun NürnbergQ28320150
Janine AltmüllerQ30004014
Michael R. SpeicherQ30361836
P2093author name stringMuhammad Ansar
John B Vincent
Wolfgang Höhne
Muhammad S Hussain
Christian Enzinger
Muzammil A Khan
Meritxell Orpinell
Christian Windpassinger
P2860cites workDSM-5Q3064664
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The human microcephaly protein STIL interacts with CPAP and is required for procentriole formationQ24294326
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformationsQ24296941
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architectureQ24301645
WDR62 is associated with the spindle pole and is mutated in human microcephalyQ24301673
Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiationQ24304459
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephalyQ24315121
Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesisQ24318539
Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assemblyQ24337030
SAS-6 defines a protein family required for centrosome duplication in C. elegans and in human cellsQ24338767
MAFFT version 5: improvement in accuracy of multiple sequence alignmentQ24556683
Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuumQ24570114
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain sizeQ24570115
The UCSC Genome Browser database: update 2011Q24625811
Regulated HsSAS-6 levels ensure formation of a single procentriole per centriole during the centrosome duplication cycleQ24647101
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The human genome browser at UCSCQ24672361
Centriole cycle in Chinese hamster ovary cells as determined by whole-mount electron microscopyQ24681079
A simple method for displaying the hydropathic character of a proteinQ26778481
Structures of SAS-6 suggest its organization in centriolesQ27666600
Structural Basis of the 9-Fold Symmetry of CentriolesQ27666762
Caenorhabditis elegans centriolar protein SAS-6 forms a spiral that is consistent with imparting a ninefold symmetryQ27678771
Spindle positioning in human cells relies on proper centriole formation and on the microcephaly proteins CPAP and STIL.Q39440190
Fast set-up of doxycycline-inducible protein expression in human cell lines with a single plasmid based on Epstein-Barr virus replication and the simple tetracycline repressorQ40173257
Genetic heterogeneity in Pakistani microcephaly families.Q41933585
A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.Q41936164
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signalsQ48531006
DSAS-6 organizes a tube-like centriole precursor, and its absence suggests modularity in centriole assembly.Q52682166
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing dataQ27860742
Merlin--rapid analysis of dense genetic maps using sparse gene flow treesQ27860829
A method and server for predicting damaging missense mutationsQ27860835
Purification and properties of a Ca(2+)-independent barbed-end actin filament capping protein, CapZ, from human polymorphonuclear leukocytesQ28279761
Asymmetric centrosome inheritance maintains neural progenitors in the neocortexQ28505215
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findingsQ28769509
Reorganizing the protein space at the Universal Protein Resource (UniProt)Q29547338
Phenotypic profiling of the human genome by time-lapse microscopy reveals cell division genesQ29615188
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred childrenQ29615807
ASPM is a major determinant of cerebral cortical sizeQ29618492
Allegro, a new computer program for multipoint linkage analysisQ29618620
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 micrographsQ34065734
Molecular genetics of human microcephalyQ34191940
Centriole assembly requires both centriolar and pericentriolar material proteinsQ34372320
Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.Q34768428
Cep63 and cep152 cooperate to ensure centriole duplicationQ34921658
A primary microcephaly protein complex forms a ring around parental centrioles.Q35822248
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal functionQ36036561
A second-generation combined linkage physical map of the human genomeQ36177402
What primary microcephaly can tell us about brain growth.Q36531152
Microcephalin: a causal link between impaired damage response signalling and microcephalyQ36653018
Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephalyQ37156137
Homozygosity mapping: one more tool in the clinical geneticist's toolboxQ37687830
Towards a molecular architecture of centriole assemblyQ38018198
Investigating microcephalyQ38118290
The application of next-generation sequencing in the autozygosity mapping of human recessive diseasesQ38125937
Kinetochore KMN network gene CASC5 mutated in primary microcephalyQ39277531
P433issue22
P921main subjectPakistanQ843
microcephalyQ431643
Autosomal recessive primary microcephalyQ22965392
primary microcephalyQ60195167
P304page(s)5940-5949
P577publication date2014-06-20
P1433published inHuman Molecular GeneticsQ2720965
P1476titleA missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family
P478volume23

Reverse relations

cites work (P2860)
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Q51609994A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family.
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Q36722457ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size
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Q47708439Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive.

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