Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders (Q34874065)

5 August 2017

title

Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders (English)

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5 August 2017

12

Laura Crisponi

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author name string

Jana Herholz

1

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5 August 2017

Alessandra Meloni

2

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5 August 2017

Mara Marongiu

3

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5 August 2017

Francesca Chiappe

4

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5 August 2017

Manila Deiana

5

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5 August 2017

Carmen Roche Herrero

6

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5 August 2017

Giuseppe Zampino

7

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5 August 2017

Hanan Hamamy

8

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5 August 2017

Yusra Zalloum

9

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5 August 2017

Per Erik Waaler

10

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5 August 2017

Giangiorgio Crisponi

11

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5 August 2017

Frank Rutsch

13

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5 August 2017

publication date

16 February 2011

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European Journal of Human Genetics

5 August 2017

published in

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5 August 2017

volume

19

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5 August 2017

issue

5

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5 August 2017

page(s)

525-533

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https://scigraph.springernature.com/pub.10.1038/ejhg.2010.253

5 August 2017

exact match

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cites work

Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action

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Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation

8 July 2018

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The IL-27 p28 subunit binds cytokine-like factor 1 to form a cytokine regulating NK and T cell activities requiring IL-6R for signaling

8 July 2018

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Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1

8 July 2018

1 reference

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Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes

8 July 2018

1 reference

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Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient

8 July 2018

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Two different contact sites are recruited by cardiotrophin-like cytokine (CLC) to generate the CLC/CLF and CLC/sCNTFRalpha composite cytokines

8 July 2018

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

8 July 2018

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The ciliary neurotrophic factor receptor alpha component induces the secretion of and is required for functional responses to cardiotrophin-like cytokine

8 July 2018

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CLF associates with CLC to form a functional heteromeric ligand for the CNTF receptor complex

8 July 2018

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Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome?

8 July 2018

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Mice lacking the CNTF receptor, unlike mice lacking CNTF, exhibit profound motor neuron deficits at birth

8 July 2018

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Cold-induced profuse sweating on back and chest. A new genetic entity?

8 July 2018

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8 July 2018

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https://api.crossref.org/works/10.1038%2FEJHG.2010.253

Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity.

21 January 2018

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Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.

21 January 2018

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

21 January 2018

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12 December 2020

Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain

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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

Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome

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12 December 2020

Crisponi syndrome in an Indian patient: A rare differential diagnosis for neonatal tetanus

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12 December 2020

Crisponi syndrome: a new case with additional features and new mutation in CRLF1

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12 December 2020

Crisponi syndrome: Report of a further patient

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12 December 2020

Identifiers

DOI

10.1038/EJHG.2010.253

1 reference

5 August 2017

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5 August 2017

1 reference