Molecular genetics is contributing to the understanding of normal and abnormal cardiovascular development and morphogenesis. Deletions of chromosome 22q11.2 have been associated with distinct phenotypes that result from a failure to form derivatives of third and fourth branchial arches, including DiGeorge syndrome (DGS) and velo-cardio-facial syndrome (VCFS). The biochemical mechanisms underlying these phenotypes remain undetermined. A recent study provides new insight into the mechanism by which gene deletions produce the DGS and VCFS phenotypes.

Novelli, G., Amati, F., Dallapiccola, B. (1999). UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes?. TRENDS IN GENETICS, 15(7), 251-254.

UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes?

NOVELLI, GIUSEPPE;AMATI, FRANCESCA;
1999-07-01

Abstract

Molecular genetics is contributing to the understanding of normal and abnormal cardiovascular development and morphogenesis. Deletions of chromosome 22q11.2 have been associated with distinct phenotypes that result from a failure to form derivatives of third and fourth branchial arches, including DiGeorge syndrome (DGS) and velo-cardio-facial syndrome (VCFS). The biochemical mechanisms underlying these phenotypes remain undetermined. A recent study provides new insight into the mechanism by which gene deletions produce the DGS and VCFS phenotypes.
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/03 - Genetica Medica
English
Con Impact Factor ISI
Cell Cycle Proteins; DiGeorge Syndrome; Humans; Models, Genetic; Phenotype; Proteins; Velopharyngeal Insufficiency
http://www.sciencedirect.com/science/article/pii/S0168952599017722
Novelli, G., Amati, F., Dallapiccola, B. (1999). UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes?. TRENDS IN GENETICS, 15(7), 251-254.
Novelli, G; Amati, F; Dallapiccola, B
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/117979
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