PMC Articles for MedGen (Select 342816) - PMC

Select item 87805871.

CRLF1 and CLCF1 in Development, Health and Disease

Laura Crisponi, Insa Buers, Frank Rutsch

Int J Mol Sci. 2022 Jan; 23(2): 992. Published online 2022 Jan 17. doi: 10.3390/ijms23020992

PMCID:: PMC8780587

Select item 63866222.

Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome

Anil Kanthi, Malavika Hebbar, Stephanie L Bielas, Katta M Girisha, Anju Shukla

Eur J Med Genet. Author manuscript; available in PMC 2020 Jun 1.

Published in final edited form as: Eur J Med Genet. 2019 Jun; 62(6): 103528. Published online 2018 Aug 22. doi: 10.1016/j.ejmg.2018.08.009

PMCID:: PMC6386622

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Select item 50054683.

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Andrea Angius, Paolo Uva, Insa Buers, Manuela Oppo, Alessandro Puddu, Stefano Onano, Ivana Persico, Angela Loi, Loredana Marcia, Wolfgang Höhne, Gianmauro Cuccuru, Giorgio Fotia, Manila Deiana, Mara Marongiu, Hatice Tuba Atalay, Sibel Inan, Osama El Assy, Leo M.E. Smit, Ilyas Okur, Koray Boduroglu, Gülen Eda Utine, Esra Kılıç, Giuseppe Zampino, Giangiorgio Crisponi, Laura Crisponi, Frank Rutsch

Am J Hum Genet. 2016 Jul 7; 99(1): 236–245. Published online 2016 Jul 7. doi: 10.1016/j.ajhg.2016.05.026

Correction in:: Am J Hum Genet. 2018 Apr 5; 102(4): 713.

PMCID:: PMC5005468

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Select item 30836294.

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

Jana Herholz, Alessandra Meloni, Mara Marongiu, Francesca Chiappe, Manila Deiana, Carmen Roche Herrero, Giuseppe Zampino, Hanan Hamamy, Yusra Zalloum, Per Erik Waaler, Giangiorgio Crisponi, Laura Crisponi, Frank Rutsch

Eur J Hum Genet. 2011 May; 19(5): 525–533. Published online 2011 Feb 16. doi: 10.1038/ejhg.2010.253

PMCID:: PMC3083629

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Select item 18527305.

Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1

Laura Crisponi, Giangiorgio Crisponi, Alessandra Meloni, Mohammad Reza Toliat, Gudrun Nürnberg, Gianluca Usala, Manuela Uda, Marco Masala, Wolfgang Höhne, Christian Becker, Mara Marongiu, Francesca Chiappe, Robert Kleta, Anita Rauch, Bernd Wollnik, Friedrich Strasser, Thomas Reese, Cornelis Jakobs, Gerd Kurlemann, Antonio Cao, Peter Nürnberg, Frank Rutsch

Am J Hum Genet. 2007 May; 80(5): 971–981. Published online 2007 Mar 30. doi: 10.1086/516843

PMCID:: PMC1852730

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Select item 18527266.

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

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

Am J Hum Genet. 2007 May; 80(5): 966–970. Published online 2007 Mar 13. doi: 10.1086/513608

PMCID:: PMC1852726

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Select item 15025077.

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

François Rousseau, Jean-François Gauchat, James G. McLeod, Sylvie Chevalier, Catherine Guillet, Florence Guilhot, Isabelle Cognet, Josy Froger, Angelika F. Hahn, Per M. Knappskog, Hugues Gascan, Helge Boman

Proc Natl Acad Sci U S A. 2006 Jun 27; 103(26): 10068–10073. Published online 2006 Jun 16. doi: 10.1073/pnas.0509598103

PMCID:: PMC1502507

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