(Q36608860)

15 August 2017

Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia (English)

1 reference

15 August 2017

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26769677%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

author name string

Elisabetta Morini

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26769677%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Paula Dietrich

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26769677%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Monica Salani

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26769677%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Heather M Downs

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26769677%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Shanta Alli

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26769677%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Anthony Brenner

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26769677%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Mats Nilbratt

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26769677%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

John W LeClair

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26769677%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Anne Louise Oaklander

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26769677%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Susan A Slaugenhaupt

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26769677%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Ioannis Dragatsis

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26769677%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

publication date

13 January 2016

1 reference

15 August 2017

Human Molecular Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26769677%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

volume

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26769677%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26769677%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

page(s)

1116-1128

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26769677%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

10 June 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4764193/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Involvement of IKAP in peripheral target innervation and in specific JNK and NGF signaling in developing PNS neurons

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Uses of skin biopsy for sensory and autonomic nerve assessment

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Translational control of cell division by Elongator

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Specific correction of a splice defect in brain by nutritional supplementation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Skin biopsy for the diagnosis of peripheral neuropathy.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Elongator complex: how many roles does it play?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Elevated levels of two tRNA species bypass the requirement for elongator complex in transcription and exocytosis.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Familial dysautonomia: a review of the current pharmacological treatments

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

An early step in wobble uridine tRNA modification requires the Elongator complex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

30 September 2017

Familial dysautonomia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Growth hormone treatment in children with familial dysautonomia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Identification of the first non-Jewish mutation in familial Dysautonomia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Exchange of RNA polymerase II initiation and elongation factors during gene expression in vivo

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Human Elongator facilitates RNA polymerase II transcription through chromatin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Purification and characterization of the human elongator complex

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Aspects of spinal deformity in familial dysautonomia (Riley-Day syndrome)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Renal disease in familial dysautonomia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Familial dysautonomia. A report of genetic and clinical studies, with a review of the literature

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Familial dysautonomia: diagnosis, pathogenesis and management

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Familial dysautonomia (a brief review)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Early loss of peptidergic intraepidermal nerve fibers in an STZ-induced mouse model of insensate diabetic neuropathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Soma neurofilament immunoreactivity is related to cell size and fibre conduction velocity in rat primary sensory neurons

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Quantitative studies of ciliary and sphenopalatine ganglia in familial dysautonomia

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Disturbance of rib cage development causes progressive thoracic scoliosis: the creation of a nonsurgical structural scoliosis model in mice.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

A coordinated codon-dependent regulation of translation by Elongator

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Pulmonary function following early thoracic fusion in non-neuromuscular scoliosis

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Assessing function and pathology in familial dysautonomia: assessment of temperature perception, sweating and cutaneous innervation

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Cloning, characterization, and genomic structure of the mouse Ikbkap gene.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

A multiprotein complex that interacts with RNA polymerase II elongator

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4764193

Elongator, a Multisubunit Component of a Novel RNA Polymerase II Holoenzyme for Transcriptional Elongation

20 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDV634

Taste and smell in familial dysautonomia

21 January 2018

1 reference

12 December 2020

Teaching old drugs new tricks. Meeting of the Neurodegeneration Drug Screening Consortium, 7-8 April 2002, Washington, DC, USA

1 reference

12 December 2020

Clinical neurological aspects of familial dysautonomia

1 reference

12 December 2020

A method for unbiased and efficient estimation of number and mean volume of specified neuron subtypes in rat dorsal root ganglion

1 reference

12 December 2020

Progressive sensory loss in familial dysautonomia

1 reference

12 December 2020

The surgical management of children with familial dysautonomia

1 reference

12 December 2020

Quantitative studies of sympathetic ganglia and spinal cord intermedio-lateral gray columns in familial dysautonomia

1 reference

12 December 2020

Incidence of familial dysautonomia in Israel 1977-1981

1 reference

12 December 2020

IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration

1 reference

12 December 2020

Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia

1 reference

12 December 2020

FAMILIAL DYSAUTONOMIA; STUDIES IN A NEWBORN INFANT

1 reference

12 December 2020

Quantitative studies of dorsal root ganglia and neuropathologic observations on spinal cords in familial dysautonomia

1 reference

12 December 2020

Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews

1 reference

12 December 2020

Chapter 31 Neuropathological examination of peripheral nerves in painful neuropathies (neuralgias)

1 reference

12 December 2020

Predominant neuronal B-cell loss in L5 DRG of p75 receptor-deficient mice

1 reference

12 December 2020

ABSENCE OF TASTE-BUD PAPILLAE IN FAMILIAL DYSAUTONOMIA

1 reference

12 December 2020

Are the neurons in the dorsal root ganglion pseudounipolar? A comparison of the number of neurons and number of myelinated and unmyelinated fibres in the dorsal root

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDV634

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26769677%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26769677%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference