(Q34425915)

English

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

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

0 references

Autosomal recessive primary microcephaly

0 references

1 reference

based on heuristic

inferred from title

primary microcephaly

1 reference

based on heuristic

inferred from title

Michael R. Speicher

15

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Gudrun Nürnberg

10

object named as

Gudrun Nürnberg

0 references

16

object named as

Pierre Gönczy

0 references

Michel O Steinmetz

object named as

Michel O Steinmetz

6

0 references

object named as

Verena M Rupp

2

0 references

Peter Nürnberg

13

object named as

Peter Nürnberg

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Janine Altmüller

5

object named as

Janine Altmüller

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

11

object named as

Shahid M Baig

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

8

object named as

Holger Thiele

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Janine Altmüller

1 reference

ORCID Public Data File 2021

author name string

Muzammil A Khan

1

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Meritxell Orpinell

3

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Muhammad S Hussain

4

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Christian Enzinger

7

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Wolfgang Höhne

9

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Muhammad Ansar

12

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

John B Vincent

14

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Christian Windpassinger

17

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

publication date

20 June 2014

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

23

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

22

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

5940-5949

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

Molecular genetics of human microcephaly

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

What primary microcephaly can tell us about brain growth.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Primary microcephaly: do all roads lead to Rome?

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Genetic heterogeneity in Pakistani microcephaly families.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Microcephalin: a causal link between impaired damage response signalling and microcephaly

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

WDR62 is associated with the spindle pole and is mutated in human microcephaly

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Kinetochore KMN network gene CASC5 mutated in primary microcephaly

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

ASPM is a major determinant of cerebral cortical size

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

A primary microcephaly protein complex forms a ring around parental centrioles.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Asymmetric centrosome inheritance maintains neural progenitors in the neocortex

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Spindle positioning in human cells relies on proper centriole formation and on the microcephaly proteins CPAP and STIL.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Homozygosity mapping: one more tool in the clinical geneticist's toolbox

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

A systematic approach to mapping recessive disease genes in individuals from outbred populations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Structural Basis of the 9-Fold Symmetry of Centrioles

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Structures of SAS-6 suggest its organization in centrioles

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

The human microcephaly protein STIL interacts with CPAP and is required for procentriole formation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Cep63 and cep152 cooperate to ensure centriole duplication

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

A simple method for displaying the hydropathic character of a protein

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Purification and properties of a Ca(2+)-independent barbed-end actin filament capping protein, CapZ, from human polymorphonuclear leukocytes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

A method and server for predicting damaging missense mutations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Phenotypic profiling of the human genome by time-lapse microscopy reveals cell division genes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Investigating microcephaly

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Regulated HsSAS-6 levels ensure formation of a single procentriole per centriole during the centrosome duplication cycle

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

SAS-6 defines a protein family required for centrosome duplication in C. elegans and in human cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Reorganizing the protein space at the Universal Protein Resource (UniProt)

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

The human genome browser at UCSC

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Caenorhabditis elegans centriolar protein SAS-6 forms a spiral that is consistent with imparting a ninefold symmetry

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Towards a molecular architecture of centriole assembly

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Centriole cycle in Chinese hamster ovary cells as determined by whole-mount electron microscopy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Reconstruction of the centrosome cycle from cryoelectron micrographs

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Centriole assembly requires both centriolar and pericentriolar material proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Overly long centrioles and defective cell division upon excess of the SAS-4-related protein CPAP.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

DSAS-6 organizes a tube-like centriole precursor, and its absence suggests modularity in centriole assembly.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Allegro, a new computer program for multipoint linkage analysis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

A second-generation combined linkage physical map of the human genome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

The UCSC Genome Browser database: update 2011

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

MAFFT version 5: improvement in accuracy of multiple sequence alignment

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

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 repressor

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU318

21 January 2018

Identifiers

10.1093/HMG/DDU318

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34425915&oldid=1865115573"