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

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Language	Label	Description	Also known as
English	Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

1 reference

based on heuristic

inferred from title

Stüve-Wiedemann syndrome

1 reference

based on heuristic

inferred from title

18

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Valérie Cormier-Daire

20

object named as

Valérie Cormier-Daire

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Martine Le Merrer

16

object named as

Martine Le Merrer

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Andrea Superti-Furga

15

object named as

Andrea Superti-Furga

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Laurence Legeai-Mallet

object named as

Laurence Legeai-Mallet

19

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object named as

Céline Huber

3

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object named as

Sophie Nicole

11

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object named as

Sheila Unger

10

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author name string

Nathalie Dagoneau

1

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Europe PubMed Central

PubMed publication ID

29 July 2017

Deborah Scheffer

2

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PubMed publication ID

29 July 2017

Lihadh I Al-Gazali

4

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Europe PubMed Central

PubMed publication ID

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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Europe PubMed Central

PubMed publication ID

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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Europe PubMed Central

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29 July 2017

Jean-François Moreau

14

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PubMed publication ID

29 July 2017

Jacky Bonaventure

17

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Europe PubMed Central

PubMed publication ID

29 July 2017

language of work or name

0 references

publication date

21 January 2004

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

American Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

29 July 2017

74

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29 July 2017

2

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29 July 2017

298-305

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

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

1 reference

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

5 July 2018

The unsolved enigmas of leukemia inhibitory factor

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

Congenital bowing of the long bones in two sisters

1 reference

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

5 July 2018

Osteoblasts display receptors for and responses to leukemia-inhibitory factor

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

5 July 2018

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

1 reference

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

29 October 2018

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

1 reference

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

29 October 2018

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

1 reference

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

29 October 2018

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

1 reference

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

29 October 2018

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

1 reference

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

29 October 2018

Essential function of LIF receptor in motor neurons

1 reference

https://pubmed.ncbi.nlm.nih.gov/14740318

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14740318

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain

1 reference

https://pubmed.ncbi.nlm.nih.gov/14740318

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14740318

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14740318

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

CNTF II, I presume?

1 reference

https://pubmed.ncbi.nlm.nih.gov/14740318

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14740318

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

ResearchGate publication ID

0 references

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