| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-87 |
Sentence |
denotes |
Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities. |
| T2 |
88-312 |
Sentence |
denotes |
We report cytogenetic and molecular studies of a de novo, apparently balanced t(1;3)(q32.1;q25.1) identified in a 12-year-old female (designated DGAP128) with cerebral atrophy, macrocephaly seizures, and developmental delay. |
| T3 |
313-478 |
Sentence |
denotes |
A combination of fluorescence in situ hybridization (FISH) and Southern blot analysis demonstrated disruption of a synaptotagmin gene (SYT14) at the 1q32 breakpoint. |
| T4 |
479-552 |
Sentence |
denotes |
Expression of SYT14 in human brain was confirmed using Northern analysis. |
| T5 |
553-842 |
Sentence |
denotes |
Because members of the synaptotagmin family of proteins function as sensors that link changes in calcium levels with a variety of biological processes, including neurotransmission and hormone-responsiveness, SYT14 is an intriguing candidate gene for the abnormal development in this child. |
| T6 |
843-1047 |
Sentence |
denotes |
This is the first known constitutional rearrangement of SYT14, and further systematic genetic analysis and clinical studies of DGAP128 may offer unique insights into the role of SYT14 in neurodevelopment. |
