Modelling familial dysautonomia in human induced pluripotent stem cells (Q35088526)

6 August 2017

title

Modelling familial dysautonomia in human induced pluripotent stem cells (English)

1 reference

Human Induced Pluripotent Stem Cells

6 August 2017

main subject

1 reference

1 reference

2

Lorenz Studer

1 reference

6 August 2017

Gabsang Lee

1

1 reference

6 August 2017

language of work or name

English

0 references

publication date

1 August 2011

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6 August 2017

number of pages

11

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Philosophical Transactions of the Royal Society B

inferred from page(s)

published in

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6 August 2017

volume

366

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6 August 2017

issue

1575

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6 August 2017

page(s)

2286-2296

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Reprogramming of human primary somatic cells by OCT4 and chemical compounds

6 August 2017

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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A role for the elongator complex in zygotic paternal genome demethylation

8 July 2018

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Induced pluripotent stem cell technology for the study of human disease.

8 July 2018

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Efficient induction of transgene-free human pluripotent stem cells using a vector based on Sendai virus, an RNA virus that does not integrate into the host genome

8 July 2018

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Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs.

8 July 2018

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8 July 2018

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Lysine acetylation targets protein complexes and co-regulates major cellular functions

8 July 2018

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Stoichiometric and temporal requirements of Oct4, Sox2, Klf4, and c-Myc expression for efficient human iPSC induction and differentiation

8 July 2018

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Generation of human induced pluripotent stem cells by direct delivery of reprogramming proteins

8 July 2018

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Human induced pluripotent stem cells free of vector and transgene sequences

8 July 2018

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Parkinson's disease patient-derived induced pluripotent stem cells free of viral reprogramming factors

8 July 2018

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piggyBac transposition reprograms fibroblasts to induced pluripotent stem cells

8 July 2018

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8 July 2018

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

8 July 2018

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Induced pluripotent stem cells from a spinal muscular atrophy patient

8 July 2018

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

8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons

8 July 2018

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Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos

8 July 2018

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Central autonomic dysfunction with defective lacrimation; report of five cases.

8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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

8 July 2018

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Elongator complex: how many roles does it play?

8 July 2018

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Zfx controls the self-renewal of embryonic and hematopoietic stem cells.

8 July 2018

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

8 July 2018

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Substrate and functional diversity of lysine acetylation revealed by a proteomics survey

8 July 2018

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Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors

8 July 2018

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

8 July 2018

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Derivation of human embryonic stem cell lines from embryos obtained after IVF and after PGD for monogenic disorders.

8 July 2018

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8 July 2018

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Familial dysautonomia: a review of the current pharmacological treatments

8 July 2018

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8 July 2018

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Generation of pluripotent stem cells from neonatal mouse testis

8 July 2018

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8 July 2018

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8 July 2018

Familial dysautonomia

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EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia

8 July 2018

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Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia

8 July 2018

1 reference

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Identification of the first non-Jewish mutation in familial Dysautonomia

8 July 2018

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Parthenogenetic stem cells in nonhuman primates.

8 July 2018

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Differentiation of embryonic stem cell lines generated from adult somatic cells by nuclear transfer.

8 July 2018

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Familial dysautonomia is caused by mutations of the IKAP gene

8 July 2018

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

8 July 2018

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Isolation of pluripotent embryonic stem cells from reprogrammed adult mouse somatic cell nuclei

8 July 2018

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Full-term development of mice from enucleated oocytes injected with cumulus cell nuclei

8 July 2018

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Transgenic bovine chimeric offspring produced from somatic cell-derived stem-like cells.

8 July 2018

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Viable offspring derived from fetal and adult mammalian cells

8 July 2018

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Normal mitochondrial DNA and respiratory chain activity in familial dysautonomia fibroblasts

8 July 2018

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The cellular function of MASH1 in autonomic neurogenesis

8 July 2018

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Mammalian achaete-scute homolog 1 is required for the early development of olfactory and autonomic neurons

8 July 2018

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Altered nerve growth factor in fibroblasts from patients with familial dysautonomia

8 July 2018

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

8 July 2018

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Quantitative studies of ciliary and sphenopalatine ganglia in familial dysautonomia

8 July 2018

1 reference

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Intellectual development and familial dysautonomia

8 July 2018

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Tyrosine Hydroxylase Immunoreactivity in Familial Dysautonomia

8 July 2018

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Pregnancy: a cloned horse born to its dam twin

8 July 2018

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When diseases disappear--the case of familial dysautonomia

21 January 2018

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Elp1p, the yeast homolog of the FD disease syndrome protein, negatively regulates exocytosis independently of transcriptional elongation

21 January 2018

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

21 January 2018

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Derivation of neural crest cells from human pluripotent stem cells.

21 January 2018

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Isolation and directed differentiation of neural crest stem cells derived from human embryonic stem cells.

21 January 2018

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Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing.

21 January 2018

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A cat cloned by nuclear transplantation

21 January 2018

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Excessive mobility interrupted

21 January 2018

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https://api.crossref.org/works/10.1098%2FRSTB.2011.0026

Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia

21 January 2018

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12 December 2020

Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews

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12 December 2020

Trophic functions of the neuron. V. Familial dysautonomis. Current concepts of dysautonomia: neuropathological defects

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Personality development and familial dysautonomia

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12 December 2020

Identifiers

DOI

10.1098/RSTB.2011.0026

1 reference

6 August 2017

1 reference

6 August 2017

1 reference