POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism (Q36152933)

12 August 2017

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POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism (English)

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12 August 2017

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Fowzan S Alkuraya

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12 August 2017

Ranad Shaheen

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12 August 2017

Eissa Faqeih

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12 August 2017

Hanan E Shamseldin

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12 August 2017

Ramil R Noche

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12 August 2017

Asma Sunker

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12 August 2017

Muneera J Alshammari

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12 August 2017

Tarfa Al-Sheddi

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12 August 2017

Nouran Adly

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12 August 2017

Mohammed S Al-Dosari

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12 August 2017

Sean G Megason

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12 August 2017

Muneera Al-Husain

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12 August 2017

Futwan Al-Mohanna

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12 August 2017

language of work or name

English

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publication date

26 July 2012

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American Journal of Human Genetics

12 August 2017

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12 August 2017

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12 August 2017

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12 August 2017

330-336

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Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

CtIP Mutations Cause Seckel and Jawad Syndromes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Mechanisms and pathways of growth failure in primordial dwarfism.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Cep152 acts as a scaffold for recruitment of Plk4 and CPAP to the centrosome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Silver-Russell syndrome: genetic basis and molecular genetic testing

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Novel CENPJ mutation causes Seckel syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Basal body stability and ciliogenesis requires the conserved component Poc1

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Pericentrin in cellular function and disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Centrioles, centrosomes, and cilia in health and disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

The nonmotile ciliopathies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Molecular architecture of the centriole proteome: the conserved WD40 domain protein POC1 is required for centriole duplication and length control

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Depletion of CPAP by RNAi disrupts centrosome integrity and induces multipolar spindles

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Proteomic analysis of isolated chlamydomonas centrioles reveals orthologs of ciliary-disease genes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

The Drosophila pericentrin-like protein is essential for cilia/flagella function, but appears to be dispensable for mitosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Meier-Gorlin syndrome: report of eight additional cases and review.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Pericentrin, a centrosomal protein related to microcephalic primordial dwarfism, is required for olfactory cilia assembly in mice

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Growth and growth hormone therapy in subjects with mulibrey nanism

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3415549

3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature

23 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22840364

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.05.025

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

22840364

1 reference