(Q28115931)

English

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

scientific journal article

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scholarly article

1 reference

4 January 2017

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures (English)

1 reference

4 January 2017

spinal muscular atrophy

1 reference

based on heuristic

inferred from title

Thyroid hormone receptor interactor 4

1 reference

GOA release 2020-03-11

Activating signal cointegrator 1 complex subunit 1

1 reference

GOA release 2020-03-11

Cysteine and glycine rich protein 1

1 reference

GOA release 2020-03-11

Activating signal cointegrator 1 complex subunit 2

1 reference

GOA release 2020-03-11

Thyroid hormone receptor interactor 4

1 reference

GOA release 2020-03-11

muscular atrophy

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Sigmar Stricker

18

0 references

Sabine Rudnik-Schöneborn

7

0 references

Janbernd Kirschner

15

0 references

9

0 references

David Meierhofer

object named as

David Meierhofer

19

0 references

0 references

object named as

Hiromi Hirata

2

1 reference

ORCID Public Data File 2021

author name string

Ellen Knierim

1

1 reference

4 January 2017

Nicole I. Wolf

3

1 reference

4 January 2017

Susanne Morales-Gonzalez

4

1 reference

4 January 2017

Gudrun Schottmann

5

1 reference

4 January 2017

Yu Tanaka

6

1 reference

4 January 2017

Mickael Orgeur

8

1 reference

4 January 2017

Stefanie Vogt

10

1 reference

4 January 2017

Anne van Riesen

11

1 reference

4 January 2017

Esther Gill

12

1 reference

4 January 2017

Franziska Seifert

13

1 reference

4 January 2017

Angelika Zwirner

14

1 reference

4 January 2017

Hans Hilmar Goebel

16

1 reference

4 January 2017

Christoph Hübner

17

1 reference

4 January 2017

Werner Stenzel

20

1 reference

4 January 2017

Markus Schuelke

21

1 reference

4 January 2017

language of work or name

0 references

publication date

3 March 2016

1 reference

4 January 2017

American Journal of Human Genetics

1 reference

4 January 2017

98

1 reference

4 January 2017

3

1 reference

4 January 2017

473–489

1 reference

4 January 2017

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4800037/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

Activating signal cointegrator 1, a novel transcription coactivator of nuclear receptors, and its cytosolic localization under conditions of serum deprivation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

Gene ontology: tool for the unification of biology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

Novel transcription coactivator complex containing activating signal cointegrator 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

Osteoprotegerin: a novel secreted protein involved in the regulation of bone density

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

Two classes of proteins dependent on either the presence or absence of thyroid hormone for interaction with the thyroid hormone receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

Requirement for serum response factor for skeletal muscle growth and maturation revealed by tissue-specific gene deletion in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

GenePaint.org: an atlas of gene expression patterns in the mouse embryo

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

Arthrogryposis: a review and update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

Human cysteine-rich protein. A member of the LIM/double-finger family displaying coordinate serum induction with c-myc

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

Cysteine-rich LIM-only proteins CRP1 and CRP2 are potent smooth muscle differentiation cofactors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

Nemaline myopathy: a clinical study of 143 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

Biological control through regulated transcriptional coactivators

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

A multilevel screening strategy defines a molecular fingerprint of proregenerative olfactory ensheathing cells and identifies SCARB2, a protein that improves regenerative sprouting of injured sensory spinal axons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

Pigment epithelium-derived factor released by Müller glial cells exerts neuroprotective effects on retinal ganglion cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

Effects of the RANKL inhibitor, osteoprotegerin, on the pain and histopathology of bone cancer in rats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

Inhibition of osteoclastogenesis by the secretion of osteoprotegerin in vitro by rat dental follicle cells and its implications for tooth eruption

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

Pigment epithelium-derived factor (PEDF) protects motor neurons from chronic glutamate-mediated neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

20 March 2017

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

7 April 2017

Identifying differentially expressed genes using false discovery rate controlling procedures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

7 April 2017

Transcriptional coregulators: fine-tuning metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

29 September 2017

Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

29 September 2017

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

29 September 2017

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

29 September 2017

Research resource: identification of novel coregulators specific for thyroid hormone receptor-β2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

29 September 2017

Mutations in ECEL1 cause distal arthrogryposis type 5D

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

29 September 2017

Serum response factor regulates bone formation via IGF-1 and Runx2 signals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

29 September 2017

Cysteine- and glycine-rich protein 1a is involved in spinal cord regeneration in adult zebrafish

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

29 September 2017

Arthrogryposis multiplexa congenita: an epidemiologic study of nearly 9 million births in 24 EUROCAT registers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

29 September 2017

Prenatal diagnosis and management of intrauterine fracture

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

29 September 2017

Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

29 September 2017

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

29 September 2017

Functional organization of the transcriptome in human brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

29 September 2017

Using GenePattern for gene expression analysis

1 reference

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29 September 2017

Serum response factor mediates NGF-dependent target innervation by embryonic DRG sensory neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

29 September 2017

Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

29 September 2017

Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

29 September 2017

Csrp1 regulates dynamic cell movements of the mesendoderm and cardiac mesoderm through interactions with Dishevelled and Diversin

1 reference

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1 reference

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Differential recruitment of nuclear receptor coactivators may determine alternative RNA splice site choice in target genes

1 reference

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29 September 2017

Detection of novel members, structure-function analysis and evolutionary classification of the 2H phosphoesterase superfamily

1 reference

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29 September 2017

Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype.

1 reference

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29 September 2017

Spinal muscular atrophy variant with congenital fractures

1 reference

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29 September 2017

HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing

1 reference

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2 June 2018

Region-specific expression of mitochondrial complex I genes during murine brain development

1 reference

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1 reference

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2 June 2018

FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?

1 reference

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2 June 2018

Mutation- and tissue-specific alterations of RPGR transcripts.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

2 June 2018

X-linked infantile spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4800037

2 June 2018

Changes of the ratio between myelin thickness and axon diameter in the human developing sural nerve

1 reference

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1 reference

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1 reference

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Amyoplasia revisited

1 reference

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27 November 2018

The transcription factor serum response factor stimulates axon regeneration through cytoplasmic localization and cofilin interaction

1 reference

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27 November 2018

Dating fractures in infants

1 reference

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Developmental transition of touch response from slow muscle-mediated coilings to fast muscle-mediated burst swimming in zebrafish

1 reference

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Animals lacking link protein have attenuated perineuronal nets and persistent plasticity.

1 reference

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27 November 2018

Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele

1 reference

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27 November 2018

Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion.

1 reference

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27 November 2018

Spinal muscular atrophy with congenital fractures: postmortem analysis

1 reference

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27 November 2018

Severe spinal muscular atrophy variant associated with congenital bone fractures.

1 reference

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27 November 2018

Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance

1 reference

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27 November 2018

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B

1 reference

https://pubmed.ncbi.nlm.nih.gov/26924529

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Homozygous Nonsense Mutation in Type XVII Collagen Gene (COL17A1) Uncovers an Alternatively Spliced mRNA Accounting for an Unusually Mild Form of Non-Herlitz Junctional Epidermolysis Bullosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/26924529

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative histological study in the sural nerves of children

1 reference

https://pubmed.ncbi.nlm.nih.gov/26924529

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A morphometric study of human fetal sural nerve

1 reference

https://pubmed.ncbi.nlm.nih.gov/26924529

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

https://pubmed.ncbi.nlm.nih.gov/26924529

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2016.01.006

0 references

0 references

1 reference

4 January 2017

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