(Q52430458)

1 May 2018

title

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. (English)

1 reference

1 May 2018

X-linked dystonia-parkinsonism

0 references

1 reference

1 reference

based on heuristic

inferred from title

author

Roland Dominic Jamora

26

1 reference

1 May 2018

Katherine M Munson

Katherine M Munson

22

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Christine Klein

31

Christine Klein

1 reference

PubMed ID

29474918

1 May 2018

Xandra O. Breakefield

42

Xandra O Breakefield

1 reference

1 May 2018

Deanna M. Church

28

Deanna M Church

1 reference

1 May 2018

Evan E. Eichler

23

Evan E Eichler

1 reference

1 May 2018

Laurie Ozelius

43

Laurie J Ozelius

1 reference

1 May 2018

Stuart Cantsilieris

21

Stuart Cantsilieris

1 reference

1 May 2018

Caroline Antolik

17

Caroline Antolik

1 reference

1 May 2018

author name string

Tatsiana Aneichyk

1

1 reference

1 May 2018

William T Hendriks

2

1 reference

1 May 2018

Rachita Yadav

3

1 reference

1 May 2018

David Shin

4

1 reference

1 May 2018

Dadi Gao

5

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1 May 2018

Christine A Vaine

6

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1 May 2018

Ryan L Collins

7

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1 May 2018

Aloysius Domingo

8

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1 May 2018

Benjamin Currall

9

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1 May 2018

Alexei Stortchevoi

10

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1 May 2018

Trisha Multhaupt-Buell

11

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1 May 2018

Ellen B Penney

12

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1 May 2018

Lilian Cruz

13

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1 May 2018

Jyotsna Dhakal

14

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1 May 2018

Harrison Brand

15

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1 May 2018

Carrie Hanscom

16

1 reference

1 May 2018

Marisela Dy

18

1 reference

1 May 2018

Ashok Ragavendran

19

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1 May 2018

Jason Underwood

20

1 reference

1 May 2018

Patrick Acuña

24

1 reference

1 May 2018

Criscely Go

25

1 reference

1 May 2018

Raymond L Rosales

27

1 reference

1 May 2018

Stephen R Williams

29

1 reference

1 May 2018

Sarah Garcia

30

1 reference

1 May 2018

Ulrich Müller

32

1 reference

1 May 2018

Kirk C Wilhelmsen

33

1 reference

1 May 2018

H T Marc Timmers

34

1 reference

1 May 2018

Yechiam Sapir

35

1 reference

1 May 2018

Brian J Wainger

36

1 reference

1 May 2018

Daniel Henderson

37

1 reference

1 May 2018

Naoto Ito

38

1 reference

1 May 2018

Neil Weisenfeld

39

1 reference

1 May 2018

David Jaffe

40

1 reference

1 May 2018

Nutan Sharma

41

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1 May 2018

D Cristopher Bragg

44

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1 May 2018

Michael E Talkowski

45

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1 May 2018

language of work or name

English

0 references

publication date

1 February 2018

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1 May 2018

published in

Cell

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1 May 2018

volume

172

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1 May 2018

issue

5

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1 May 2018

page(s)

897-909.e21

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1 May 2018

RNA metabolism in neurodegenerative disease.

cites work

1 reference

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25 August 2018

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25 August 2018

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IRFinder: assessing the impact of intron retention on mammalian gene expression.

25 August 2018

1 reference

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25 August 2018

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Directing traffic on DNA-How transcription factors relieve or induce transcriptional interference.

25 August 2018

1 reference

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Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia

25 August 2018

1 reference

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Indel variant analysis of short-read sequencing data with Scalpel.

25 August 2018

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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

25 August 2018

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Frameshift Mutations in the Mononucleotide Repeats of TAF1 and TAF1L Genes in Gastric and Colorectal Cancers with Regional Heterogeneity

25 August 2018

1 reference

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Analysis of protein-coding genetic variation in 60,706 humans

25 August 2018

1 reference

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Recent advances in innovative therapeutic approaches for Duchenne muscular dystrophy: from discovery to clinical trials

25 August 2018

1 reference

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Near-optimal probabilistic RNA-seq quantification

25 August 2018

1 reference

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Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells

25 August 2018

1 reference

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Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer

25 August 2018

1 reference

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TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

25 August 2018

1 reference

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Defective histone supply causes changes in RNA polymerase II elongation rate and cotranscriptional pre-mRNA splicing

25 August 2018

1 reference

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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

25 August 2018

1 reference

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Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831509

Spinal muscular atrophy--recent therapeutic advances for an old challenge.

25 August 2018

1 reference

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Activin A directs striatal projection neuron differentiation of human pluripotent stem cells

25 August 2018

1 reference

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Sambamba: fast processing of NGS alignment formats.

25 August 2018

1 reference

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Identification of altered cis-regulatory elements in human disease

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831509

New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831509

Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831509

Pre-mRNA splicing is facilitated by an optimal RNA polymerase II elongation rate.

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831509

Comprehensive variation discovery in single human genomes

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831509

Molecular findings among patients referred for clinical whole-exome sequencing

25 August 2018

1 reference

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CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831509

HTSeq--a Python framework to work with high-throughput sequencing data

25 August 2018

1 reference

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Widespread intron retention in mammals functionally tunes transcriptomes

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831509

Poly peak parser: Method and software for identification of unknown indels using sanger sequencing of polymerase chain reaction products

25 August 2018

1 reference

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A framework for the interpretation of de novo mutation in human disease

25 August 2018

1 reference

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SAMBLASTER: fast duplicate marking and structural variant read extraction

25 August 2018

1 reference

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Trimmomatic: a flexible trimmer for Illumina sequence data

25 August 2018

1 reference

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Quadruplex-forming DNA sequences spread by retrotransposons may serve as genome regulators.

25 August 2018

1 reference

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The functional consequences of intron retention: alternative splicing coupled to NMD as a regulator of gene expression

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831509

Efficient and rapid derivation of primitive neural stem cells and generation of brain subtype neurons from human pluripotent stem cells

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831509

Smart-seq2 for sensitive full-length transcriptome profiling in single cells.

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831509

Rapid single-step induction of functional neurons from human pluripotent stem cells

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831509

A central role for TFIID in the pluripotent transcription circuitry

25 August 2018

1 reference

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Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma

25 August 2018

1 reference

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STAR: ultrafast universal RNA-seq aligner

25 August 2018

1 reference

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Intronic retroelements: Not just "speed bumps" for RNA polymerase II.

25 August 2018

1 reference

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Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

25 August 2018

1 reference

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Fast gapped-read alignment with Bowtie 2

25 August 2018

1 reference

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RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831509

Full-length transcriptome assembly from RNA-Seq data without a reference genome

25 August 2018

1 reference

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BamTools: a C++ API and toolkit for analyzing and managing BAM files

25 August 2018

1 reference

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A framework for variation discovery and genotyping using next-generation DNA sequencing data

25 August 2018

1 reference

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The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag").

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831509

The Sequence Alignment/Map format and SAMtools

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831509

Fast and accurate short read alignment with Burrows-Wheeler transform

25 August 2018

1 reference

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WGCNA: an R package for weighted correlation network analysis

25 August 2018

1 reference

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Intron mis-splicing: no alternative?

25 August 2018

1 reference

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Defining clusters from a hierarchical cluster tree: the Dynamic Tree Cut package for R.

25 August 2018

1 reference

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Structural and functional analysis of the human TAF1/DYT3 multiple transcript system

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831509

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831509

The general transcription machinery and general cofactors

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831509

Regulated expression of TAF1 in 1-cell mouse embryos

25 August 2018

1 reference

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The role of RNA and RNA processing in neurodegeneration.

25 August 2018

1 reference

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Transcriptional interference--a crash course

25 August 2018

1 reference

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An extensive requirement for transcription factor IID-specific TAF-1 in Caenorhabditis elegans embryonic transcription

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831509

Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism

25 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5831509

Translational control of intron splicing in eukaryotes

25 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29474918

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.CELL.2018.02.011

1 reference

1 May 2018

0 references

1 reference

1 May 2018