Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects. (Q52883562)

9 May 2018

http://europepmc.org/abstract/MED/26908619

title

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects. (English)

1 reference

9 May 2018

http://europepmc.org/abstract/MED/26908619

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Neeti Ghali

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Jillian P Casey

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Paul McGettigan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Huw Dorkins

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Margaret M Mc Gee

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Helen Murphy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Sally Ann Lynch

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

publication date

21 February 2016

1 reference

9 May 2018

http://europepmc.org/abstract/MED/26908619

published in

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

1824-1835

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26908619%20AND%20SRC:MED&resulttype=core&format=json

Nosology and classification of genetic skeletal disorders: 2010 revision.

31 May 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Chondrodysplasia punctata and maternal autoimmune disease: a new case and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Nek1 kinase functions in DNA damage response and checkpoint control through a pathway independent of ATM and ATR

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Nek1 silencing slows down DNA repair and blocks DNA damage-induced cell cycle arrest

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Cell cycle regulation by the NEK family of protein kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Nercc1, a mammalian NIMA-family kinase, binds the Ran GTPase and regulates mitotic progression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

NEK9 depletion induces catastrophic mitosis by impairment of mitotic checkpoint control and spindle dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Nek9 regulates spindle organization and cell cycle progression during mouse oocyte meiosis and its location in early embryo mitosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

The chromatin-specific transcription elongation factor FACT comprises human SPT16 and SSRP1 proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Nek9, a novel FACT-associated protein, modulates interphase progression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

NEK1 mutations cause short-rib polydactyly syndrome type majewski

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Compartments within a compartment: what C. elegans can tell us about ciliary subdomain composition, biogenesis, function, and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Predicting coiled coils from protein sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Nek1 interacts with Ku80 to assist chromatin loading of replication factors and S-phase progression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Eyes absent 1 (Eya1) is a critical coordinator of epithelial, mesenchymal and vascular morphogenesis in the mammalian lung

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Pulmonary hypoplasia in the connective tissue growth factor (Ctgf) null mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Mitotic regulation by NIMA-related kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Nek family of kinases in cell cycle, checkpoint control and cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Nek7 kinase targeting leads to early mortality, cytokinesis disturbance and polyploidy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Nek8, a NIMA family kinase member, is overexpressed in primary human breast tumors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

The RCC1 superfamily: from genes, to function, to disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Nek9 is a Plk1-activated kinase that controls early centrosome separation through Nek6/7 and Eg5

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Members of the plant NIMA-related kinases are involved in organ development and vascularization in poplar, Arabidopsis and rice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

The Ciliopathies: An Emerging Class of Human Genetic Disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

The Oak Ridge Polycystic Kidney mouse: modeling ciliopathies of mice and men

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

The cell biological basis of ciliary disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

PLINK: a tool set for whole-genome association and population-based linkage analyses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054

Image analysis of Caenorhabditis elegans ciliary transition zone structure, ultrastructure, molecular composition, and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW054