(Q28478905)

GOA release 2020-03-11

author

Kristian Cibulskis

4

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Carrie Sougnez

3

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Stacey Gabriel

23

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Susan M Robey-Bond

21

object named as

Susan Robey-Bond

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author name string

Erik G Puffenberger

1

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Robert N Jinks

2

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Rebecca A Willert

5

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Nathan P Achilly

6

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Ryan P Cassidy

7

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Christopher J Fiorentini

8

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Kory F Heiken

9

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Johnny J Lawrence

10

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Molly H Mahoney

11

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Christopher J Miller

12

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Devika T Nair

13

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Kristin A Politi

14

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Kimberly N Worcester

15

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Roni A Setton

16

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Rosa Dipiazza

17

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Eric A Sherman

18

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James T Eastman

19

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Christopher Francklyn

20

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Nicholas L Rider

22

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D Holmes Morton

24

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Kevin A Strauss

Creative Commons Attribution 4.0 International

25

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language of work or name

English

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publication date

2012

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published in

PLOS One

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volume

7

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page(s)

e28936

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issue

1

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copyright license

start time

17 January 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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describes a project that uses

ImageJ

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3260153/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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A novel smad nuclear interacting protein, SNIP1, suppresses p300-dependent TGF-beta signal transduction

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Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

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29 September 2017

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Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

29 September 2017

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29 September 2017

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Genetic determinants at the interface of cancer and neurodegenerative disease

29 September 2017

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29 September 2017

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Reduced hippocampal damage and epileptic seizures after status epilepticus in mice lacking proapoptotic Puma

29 September 2017

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Genetics, medicine, and the Plain people

29 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260153

Transcriptome profiling reveals TGF-beta signaling involvement in epileptogenesis

29 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260153

CBP/p300 and associated transcriptional co-activators exhibit distinct expression patterns during murine craniofacial and neural tube development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260153

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

29 September 2017

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The neurological phenotype of ataxia-telangiectasia: solving a persistent puzzle

29 September 2017

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Methods for kinetic and thermodynamic analysis of aminoacyl-tRNA synthetases

29 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260153

Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.

29 September 2017

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Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania

29 September 2017

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Pidd, a new death-domain-containing protein, is induced by p53 and promotes apoptosis

29 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260153

Subcellular localization and CARD-dependent oligomerization of the death adaptor RAIDD.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260153

An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260153

A tRNA identity switch mediated by the binding interaction between a tRNA anticodon and the accessory domain of a class II aminoacyl-tRNA synthetase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260153

Studies on human tRNA I. The rapid, large scale isolation and partial fractionation of placenta and liver tRNA

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260153

Chorioretinopathy With Hereditary Microcephaly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3260153

THE DISTRIBUTION OF CERTAIN GENES IN THE OLD ORDER AMISH.

2 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028936

Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028936

Smad2 isoforms are differentially expressed during mouse brain development and aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028936

Loss of the Max-interacting protein Mnt in mice results in decreased viability, defective embryonic growth and craniofacial defects: relevance to Miller-Dieker syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028936

Syndromic features and mild cognitive impairment in mice with genetic reduction on p300 activity: Differential contribution of p300 and CBP to Rubinstein-Taybi syndrome etiology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028936

Human Gene Mutation Database: towards a comprehensive central mutation database

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0028936

Nuclear factor-kappa B regulates seizure threshold and gene transcription following convulsant stimulation

21 January 2018

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12 December 2020

Exome sequencing links gene mutation in angiopoietin-like protein 3 with low-density lipoprotein cholesterol

1 reference

12 December 2020

Clinical application of DNA microarrays: molecular diagnosis and HLA matching of an Amish child with severe combined immune deficiency

1 reference

12 December 2020

RAIDD aggregation facilitates apoptotic death of PC12 cells and sympathetic neurons

1 reference

12 December 2020

GENETIC STUDIES OF THE AMISH, BACKGROUND AND POTENTIALITIES

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12 December 2020

10.1371/JOURNAL.PONE.0028936

Identifiers

DOI

1 reference

396542

ADS bibcode

2012PLoSO...728936P

0 references

396542

1 reference

1 reference

1 reference