Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome (Q33909639)

29 July 2017

title

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome (English)

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29 July 2017

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Stüve-Wiedemann syndrome

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18

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Valérie Cormier-Daire

20

Valérie Cormier-Daire

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Martine Le Merrer

16

Martine Le Merrer

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Andrea Superti-Furga

15

Andrea Superti-Furga

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Laurence Legeai-Mallet

Laurence Legeai-Mallet

19

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Celine Huber

Céline Huber

3

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Sophie Nicole

Sophie Nicole

11

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Sheila Unger

Sheila Unger

10

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author name string

Nathalie Dagoneau

1

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29 July 2017

Deborah Scheffer

2

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29 July 2017

Lihadh I Al-Gazali

4

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29 July 2017

Maja Di Rocco

5

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29 July 2017

Anne Godard

6

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29 July 2017

Jelena Martinovic

7

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29 July 2017

Annick Raas-Rothschild

8

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29 July 2017

Sabine Sigaudy

9

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29 July 2017

Bertrand Fontaine

12

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29 July 2017

Jean-Luc Taupin

13

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29 July 2017

Jean-François Moreau

14

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29 July 2017

Jacky Bonaventure

17

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29 July 2017

language of work or name

English

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publication date

21 January 2004

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American Journal of Human Genetics

29 July 2017

published in

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29 July 2017

volume

74

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29 July 2017

issue

2

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29 July 2017

page(s)

298-305

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Cytokine suppression of dopamine-beta-hydroxylase by extracellular signal-regulated kinase-dependent and -independent pathways.

29 July 2017

cites work

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The unsolved enigmas of leukemia inhibitory factor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181927

Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181927

Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene

5 July 2018

1 reference

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Distinct roles for leukemia inhibitory factor receptor alpha-chain and gp130 in cell type-specific signal transduction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181927

Box 3-independent signaling mechanisms are involved in leukemia inhibitory factor receptor alpha- and gp130-mediated stimulation of mitogen-activated protein kinase. Evidence for participation of multiple signaling pathways which converge at Ras

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181927

Structure of the gene encoding the human differentiation-stimulating factor/leukemia inhibitory factor receptor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181927

Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181927

The leukemia inhibitory factor receptor (LIFR) gene is located within a cluster of cytokine receptor loci on mouse chromosome 15 and human chromosome 5p12-p13

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181927

Targeted disruption of the low-affinity leukemia inhibitory factor receptor gene causes placental, skeletal, neural and metabolic defects and results in perinatal death.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181927

Congenital bowing of the long bones in two sisters

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181927

Osteoblasts display receptors for and responses to leukemia-inhibitory factor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181927

Leukemia inhibitory factor receptor is structurally related to the IL-6 signal transducer, gp130

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181927

High and low affinity receptors for human interleukin for DA cells/leukemia inhibitory factor on human cells. Molecular characterization and cellular distribution.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181927

Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181927

Mutations in the immunoglobulin-like domain of gp190, the leukemia inhibitory factor (LIF) receptor, increase or decrease its affinity for LIF.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181927

Conditional gene ablation of Stat3 reveals differential signaling requirements for survival of motoneurons during development and after nerve injury in the adult

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181927

Characterization of a long-term survivor with Stüve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181927

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181927

Essential function of LIF receptor in motor neurons

29 October 2018

1 reference

12 December 2020

Stüve-Wiedemann dysplasia in a 3 1/2-year-old boy

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12 December 2020

Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain

1 reference

12 December 2020

Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2

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12 December 2020

Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping"

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12 December 2020

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12 December 2020

Expression of leukemia inhibitory factor (LIF)/interleukin-6 family cytokines and receptors during in vitro osteogenesis: differential regulation by dexamethasone and LIF

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12 December 2020

Identifiers

DOI

10.1086/381715

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29 July 2017

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29 July 2017

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