A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures (Q50422133)

13 March 2018

http://europepmc.org/abstract/MED/29474920

title

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures (English)

1 reference

13 March 2018

http://europepmc.org/abstract/MED/29474920

main subject

haploinsufficiency

0 references

author

Vincenzo Alessandro Gennarino

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29474920%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Elizabeth E Palmer

2

1 reference

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4 June 2020

Li Wang

4

1 reference

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4 June 2020

Edwin P. Kirk

15

1 reference

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4 June 2020

Amy M. Breman

17

1 reference

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4 June 2020

Mark J. Cowley

31

1 reference

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4 June 2020

Marcel E. Dinger

32

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4 June 2020

Jimmy Holder

40

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4 June 2020

39

Kym M Boycott

1 reference

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4 June 2020

16

Pawel Stankiewicz

1 reference

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4 June 2020

34

Oana Caluseriu

1 reference

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4 June 2020

author name string

Laura M McDonell

3

1 reference

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4 June 2020

Carolyn J Adamski

5

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4 June 2020

Amanda Koire

6

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4 June 2020

Lauren See

7

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4 June 2020

Chun-An Chen

8

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4 June 2020

Christian P Schaaf

9

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4 June 2020

Jill A Rosenfeld

10

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4 June 2020

Jessica A Panzer

11

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4 June 2020

Ute Moog

12

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4 June 2020

Shuang Hao

13

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4 June 2020

Ann Bye

14

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4 June 2020

Arran McBride

18

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4 June 2020

Tejaswi Kandula

19

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4 June 2020

Holly A Dubbs

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4 June 2020

Rebecca Macintosh

21

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4 June 2020

Michael Cardamone

22

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4 June 2020

Ying Zhu

23

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4 June 2020

Kevin Ying

24

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4 June 2020

Kerith-Rae Dias

25

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4 June 2020

Megan T Cho

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4 June 2020

Lindsay B Henderson

27

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4 June 2020

Berivan Baskin

28

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4 June 2020

Paula Morris

29

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4 June 2020

Jiang Tao

30

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4 June 2020

Tony Roscioli

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Oksana Suchowersky

35

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4 June 2020

Rani K Sachdev

36

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4 June 2020

Jianrong Tang

38

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4 June 2020

Olivier Lichtarge

37

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4 June 2020

Huda Y Zoghbi

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4 June 2020

language of work or name

English

0 references

publication date

1 February 2018

1 reference

13 March 2018

http://europepmc.org/abstract/MED/29474920

published in

Cell

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4 June 2020

volume

172

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4 June 2020

issue

5

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4 June 2020

page(s)

924-936.e11

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Post-transcriptional regulation of mouse neurogenesis by Pumilio proteins

4 June 2020

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8 September 2018

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8 September 2018

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8 September 2018

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8 September 2018

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8 September 2018

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8 September 2018

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8 September 2018

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8 September 2018

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A Pumilio-induced RNA structure switch in p27-3' UTR controls miR-221 and miR-222 accessibility

8 September 2018

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8 September 2018

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8 September 2018

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Mammalian Pumilio 2 regulates dendrite morphogenesis and synaptic function

8 September 2018

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Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

8 September 2018

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Origins and functional impact of copy number variation in the human genome

8 September 2018

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High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

8 September 2018

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Development of a brief ataxia rating scale (BARS) based on a modified form of the ICARS.

8 September 2018

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

8 September 2018

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8 September 2018

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Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

Population analysis of large copy number variants and hotspots of human genetic disease

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

E2f3a and E2f3b contribute to the control of cell proliferation and mouse development

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

Rare chromosomal deletions and duplications increase risk of schizophrenia

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

RNA-binding proteins in human genetic disease

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

Genotype, haplotype and copy-number variation in worldwide human populations

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

Copy-number variation in control population cohorts

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

Germ-line DNA copy number variation frequencies in a large North American population

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

Enhancements and modifications of primer design program Primer3.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

Dendritic localization of the translational repressor Pumilio 2 and its contribution to dendritic stress granules

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

Post-transcriptional control of gene expression: a genome-wide perspective.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

Alpha-synuclein locus duplication as a cause of familial Parkinson's disease

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

The PUF family of RNA-binding proteins: does evolutionarily conserved structure equal conserved function?

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

The Drosophila melanogaster translational repressor pumilio regulates neuronal excitability.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

A long CAG repeat in the mouse Sca1 locus replicates SCA1 features and reveals the impact of protein solubility on selective neurodegeneration.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

A new mathematical model for relative quantification in real-time RT-PCR

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

Identification of genes that modify ataxin-1-induced neurodegeneration.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

The Pumilio protein binds RNA through a conserved domain that defines a new class of RNA-binding proteins.

8 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5832058

SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

8 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29474920

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29474920

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Microdeletion 1p35.2: a recognizable facial phenotype with developmental delay

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29474920

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.CELL.2018.02.006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29474920%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29474920%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

1 reference