Genetic developmental defect during embryogenesis
SCIE.11.128
MODELING PITT-HOPKINS SYNDROME AND NEW PATHOGENETIC VARIANTS OF TCF4 BY GENE EDITING: A STEP FORWARD TOWARD PRECISION MEDICINE (HOPEFOR)

Orefice M. * [1] , Salamone G. [1] , Savoli S. [1] , De Sarlo M. [1] , Vitobello A. [2] , Ori M. [1]

Pisa [1] , Dijone [2]
SCIE.16.120
MODULATION OF NBAS-RELATED FUNCTIONS IN THE EARLY RESPONSE TO SARS-COV-2 INFECTION

Granata V. [1] , Pagani I. [2] , Morenghi E. [1] , Schiavone M.L. [1] , Lezzi A. [2] , Ghezzi S. [2] , Vicenzi E. [2] , Poli G. [2] , Sobacchi C. * [2]

Rozzano [1] , Milano [2]
SCIE.16.122
CONNECTING CRANIOFACIAL MALFORMATIONS WITH NEURAL CREST SPLICING DEFECTS BY UNCOVERING THE HIDDEN ROLE OF NATURAL KILLER CELL TRIGGERING RECEPTOR GENE (NKTR).

Oleari R. [1] , Corsinovi D. [2] , Caramello A. [3] , Paganoni A.J.J. [1] , Amoruso F. [1] , Ori M. [2] , Cariboni A. * [1]

Milan [1] , Pisa [2] , London [3]
SCIE.05.131
ROLE OF CHROMATIN CONDENSATES IN TUNING NUCLEAR MECHANO-SENSING IN KABUKI SYNDROME

D'Annunzio S. * , Zippo A.

Trento
SCIE.05.130
INVESTIGATING THE RELATIONSHIP BETWEEN TRANSCRIPTIONAL AND REPRESSIVE CONDENSATES IN A STEM CELL-BASED KABUKI SYNDROME MODEL

Negri M.L. * , D'Annunzio S. , Lago S. , Zippo A.

Trento
SCIE.11.126
GENERATION OF PATIENT-DERIVED IPSCS FOR UNDERSTANDING THE PATHOGENIC MECHANISMS UNDERLYING ALTERED NEURONAL FUNCTION ASSOCIATED WITH CAMK2B GENE MUTATIONS

Borghi R. * , Trivisano M. , Specchio N. , Tartaglia M. , Compagnucci C.

Roma
SCIE.11.123
JOUBERT SYNDROME: BEYOND CONVENTIONAL MENDELIAN GENETICS

D'Abrusco F. * , Serpieri V. , Pollara L. , Mazzotta C. , Giorgio E. , Sottile V. , Bianca L. , De Gregorio E. , Stellato T. , Marando V.A. , Mortarini G. , Taccagni C.M. , Tondinelli S. , Valente E.M.

Pavia
SCIE.16.121
ZEBRAFISH AS MODEL FOR CATEL-MANZKE SYNDROME: IDENTIFICATION AND CHARACTERIZATION OF DANIO RERIO TGDS

Coppola M.R.C. , Bellitto D. , Bozzo M. , Candiani S. , Tonetti M. *

Genova
SCIE.11.129
THE ROLE OF ANCIENT GENE VARIANTS IN PRADER-WILLI SYNDROME PATHOPHYSIOLOGY

Polito A. * [1] , Serani A. [2] , Tsushima H. [2] , Tucci V. [2]

Padova [1] , Genova [2]
SCIE.05.125
CRISPR-CAS9-BASED FUNCTIONAL INVESTIGATION OF THE "DARK GENOME" IN SEARCH OF PUTATIVE DOWNSTREAM EFFECTORS OF SOX2 IN NEURODEVELOPMENTAL DISEASE

Pozzolini G. [1] , Baldi R. [1] , Marenco C. [1] , Barilà S.E. [1] , Mercurio S. [1] , Testa G. [1] , Pavesi G. [1] , Esk P.C. [2] , Krenn V. [1] , Nicolis S.K. * [1]

Milano [1] , Innsbruck [2]
SCIE.05.124
A NOVEL NEURODEVELOPMENT SYNDROME CAUSED BY RECESSIVE VARIANTS IN THE FSD1L GENE

Serpieri V. [1] , Orsi A. * [1] , Cavan S. [1] , Mazzotta C. [1] , Celli L. [2] , De Mori R. [2] , Biagini T. [3] , Romani M. [2] , Garbelli A. [1] , Smal N. [4] , Mazza T. [5] , Sabbioneda S. [1] , Bione S. [1] , Condoluci C. [2] , Weckhuysen S. [4] , Valente E.M. [1]

Pavia [1] , Roma [2] , Foggia [3] , Anversa [4] , San Giovanni Rotondo, Foggia [5]
SCIE.11.127
ALTERED CORTICAL SENSORY PROCESSING AND FUNCTIONAL CONNECTIVITY IN SHANK3B+/- MICE

Montagni E. * [1] , Martello A. [1] , Pavone F.S. [1] , Allegra Mascaro A.L. [2]

Sesto Fiorentino [1] , Pisa [2]