Mutations in Cytokine Receptor-Like Factor 1 (CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes-Reference-Cited by-同舟云学术

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Mutations in Cytokine Receptor-Like Factor 1 (CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes

Published:2007-05 Issue:5 Volume:80 Page:966-970
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Dagoneau N.,Bellais S.,Blanchet P.,Sarda P.,Al-Gazali L.I.,Di Rocco M.,Huber C.,Djouadi F.,Le Goff C.,Munnich A.,Cormier-Daire V.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference13 articles.

1. Crisponi syndrome: report of a further patient;Accorsi;Am J Med Genet A,2003

2. Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: a new syndrome?;Crisponi;Am J Med Genet,1996

3. Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome;Nannenberg;Am J Med Genet A,2005

4. Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with Schwartz-Jampel type 2;Cormier-Daire;Am J Med Genet,1998

5. Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome;Dagoneau;Am J Hum Genet,2004

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1. Tobacco smoking is associated with sex- and plaque-type specific upregulation of CRLF1 in atherosclerotic lesions;Atherosclerosis;2024-10

2. CRLF1 bridges AKT and mTORC2 through SIN1 to inhibit pyroptosis and enhance chemo-resistance in ovarian cancer;Cell Death & Disease;2024-09-10

3. Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome;Genes;2024-08-23

4. Acquired Disorders of Dermal Connective Tissue;Rook's Textbook of Dermatology;2024-03-19

5. Single-cell RNA sequencing of neurofibromas reveals a tumor microenvironment favorable for neural regeneration and immune suppression in a neurofibromatosis type 1 porcine model;Frontiers in Oncology;2023-09-25

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