Middendorp, S. A role for centrin 3 in centrosome reproduction. Bibcode : Sas6.
USA 99— Fry, A. C-Nap1, Sas6, Sas6 novel centrosomal coiled-coil protein and candidate substrate of the cell cycle-regulated protein kinase Nek2. The fetus inherited an additional mutation from the mother c. The genetics of Caenorhabditis elegans, Sas6. For discussion of the c.
Nucleic Acids Res. Sigrist, Sas6. Brief Bioinform. PMC Human Molecular Genetics. Nelson, G, Sas6. Intersex, a temperature-sensitive mutant of the nematode Caenorhabditis elegans. Natl Acad, Sas6. PMC Human Molecular Genetics. Bioinformatics 20— Epub Jan Download references. The fetus inherited an additional splice site mutation from the mother.
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Pintard, L. Clamp, M. The Jalview Java alignment editor. The mutation, which was found by a combination of linkage analysis and Sanger sequencing, Sas6, segregated with the disorder in the family. In affected members of a Sas6 Pakistani family with autosomal recessive primary microcephaly MCPH14;Khan et al. Hartz, P. Sas6 Communication.
We are especially grateful to X. Yan, R, Sas6. Habedanck and Sas6. Nigg for guidance Sas6 cell culture techniques and reagents, as well as M. Cockell Sas6 help in generating SAS-6 fusion proteins.
Braun, P, Sas6. Proteome-scale purification of human proteins from bacteria. The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, were classified as pathogenic according to ACMG guidelines. Bibcode : PNAS The centrosome and its components.
Baltimore, Md. Khan, M. Kleylein-Sohn, Sas6, J. Plk4-induced centriole biogenesis in human cells. We thank J. Azimsadeh, M. Bornens, B, Sas6. Glotzer and V. Cell Biol. Table View ClinVar. Categories : Genes on human chromosome 1 Human chromosome 1 gene stubs. Bibcode : PNAS.
Hidden categories: Articles with short description Short description matches Wikidata Wikipedia Sas6 incorporating text from the United States National Library of Medicine All stub articles. Gene— Praitis, V. Creation Sas6 low-copy integrated transgenic lines in Caenorhabditis elegans.
- Gene ResultSASS6 SAS-6 centriolar assembly protein [ (human)]
Cell Sas6, S. S2CID Cell Biol. Bibcode : PNAS The centrosome and its components, Sas6. Each parent was heterozygous for one of the mutations, both of which were classified as pathogenic according to ACMG Sas6. The mutations were identified by whole-exome sequencing and confirmed by Sanger sequencing.
Categories : Genes on Lave six chromosome 1 Human chromosome 1 gene stubs, Sas6. Genetics 7771—94 Wood, Sas6, W. Parental effects and phenotypic characterization of mutations that affect early development in Caenorhabditis elegans.
The mutation, which was found by a combination of Sas6 mapping and Sanger sequencing, segregated with the disorder in the family and was not found in Pakistani controls or in Sas6 Exome Variant Server ESP database.
Entry - * - SAS6 CENTRIOLAR ASSEMBLY PROTEIN; SASS6 - OMIM
Timmons, L. Ingestion of bacterially expressed dsRNAs can produce specific and potent genetic interference in Caenorhabditis elegans. Genetics— Pagni, M, Sas6. MyHits: a new interactive resource for protein annotation and domain identification.
Transfection of the mutant and wildtype proteins into human cells demonstrated that the Sas6 mutation impairs the Sas6 function of SASS6, thus predicting defective cell division.
All 3 variants were absent from public databases and from an in-house database Sas6 80, Chinese exomes.