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Cardiofacioneurodevelopmental syndrome: Report of a novel patient and expansion of the phenotype.
Abdalla E, Alawi M, Meinecke P, Kutsche K, Harms FL. Abdalla E, et al. Am J Med Genet A. 2022 Aug;188(8):2448-2453. doi: 10.1002/ajmg.a.62762. Epub 2022 Apr 22. Am J Med Genet A. 2022. PMID: 35451546
We describe a core phenotype comprising developmental delay and bilateral cleft lip and palate in the three individuals with CFNDS. Variable abnormalities of the face, brain, heart, fingers, and toes and postnatal growth retardation or microcephaly can be present. ...
We describe a core phenotype comprising developmental delay and bilateral cleft lip and palate in the three individuals with CFNDS. Variable …
The identification of novel proteins that interact with the GLP-1 receptor and restrain its activity.
Huang X, Dai FF, Gaisano G, Giglou K, Han J, Zhang M, Kittanakom S, Wong V, Wei L, Showalter AD, Sloop KW, Stagljar I, Wheeler MB. Huang X, et al. Mol Endocrinol. 2013 Sep;27(9):1550-63. doi: 10.1210/me.2013-1047. Epub 2013 Jul 17. Mol Endocrinol. 2013. PMID: 23864651 Free PMC article.
Glucagon-like peptide 1 receptor (GLP-1R) controls diverse physiological functions in tissues including the pancreatic islets, brain, and heart. To understand the mechanisms that control glucagon-like peptide 1 (GLP-1) signaling better, we sought to identify proteins that …
Glucagon-like peptide 1 receptor (GLP-1R) controls diverse physiological functions in tissues including the pancreatic islets, brain, and …