| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| S Hossein Fatemi, Elysabeth D Otte, Timothy D Folsom, Arthur C Eschenlauer, Randall J Roper, Justin W Aman, Paul D Thura. Early Chronic Fluoxetine Treatment of Ts65Dn Mice Rescues Synaptic Vesicular Deficits and Prevents Aberrant Proteomic Alterations. Genes. vol 15. issue 4. 2024-04-27. PMID:38674386. |
proteomic analysis of trisomic synaptic fractions revealed significant downregulation of proteins involved in synaptic vesicular traffic, including vesicular endocytosis (clta, cltb, cltc), synaptic assembly and maturation (exoc1, exoc3, exoc8), anterograde axonal transport (exoc1), neurotransmitter transport to psd (sacm1l), endosomal-lysosomal acidification (rogdi, dmxl2), and synaptic signaling (nrxn1, hip1, itsn1, ywhag). |
2024-04-27 |
2024-04-29 |
mouse |
| Francesco Nicita, Giacomo Garone, Alberto Spalice, Salvatore Savasta, Pasquale Striano, Chiara Pantaleoni, Maria Valentina Spartà, Gerhard Kluger, Giuseppe Capovilla, Dario Pruna, Elena Freri, Stefano D'Arrigo, Alberto Verrott. Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region. American journal of medical genetics. Part A. vol 170A. issue 1. 2016-10-13. PMID:26437767. |
in wbs, epilepsy should be considered both in case of typical and atypical deletions, which do not involve hip1, ywhag or magi2. |
2016-10-13 |
2023-08-13 |
Not clear |
| Carmela Fusco, Lucia Micale, Bartolomeo Augello, Maria Teresa Pellico, Deny Menghini, Paolo Alfieri, Maria Cristina Digilio, Barbara Mandriani, Massimo Carella, Orazio Palumbo, Stefano Vicari, Giuseppe Merl. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits. European journal of human genetics : EJHG. vol 22. issue 1. 2015-02-12. PMID:23756441. |
along with previously reported cases, genotype-phenotype correlation in the patients described here further suggests that haploinsufficiency of hip1 and ywhag might cause the severe neurological and neuropsychological deficits including epilepsy and autistic traits, and that the preservation of baz1b and fzd9 genes may be related to mild facial features and moderate neuropsychological deficits. |
2015-02-12 |
2023-08-12 |
Not clear |
| Melissa B Ramocki, Magdalena Bartnik, Przemyslaw Szafranski, Katarzyna E Kołodziejska, Zhilian Xia, Jaclyn Bravo, G Steve Miller, Diana L Rodriguez, Charles A Williams, Patricia I Bader, Elżbieta Szczepanik, Tomasz Mazurczak, Dorota Antczak-Marach, James G Coldwell, Cigdem I Akman, Karen McAlmon, Melinda P Cohen, James McGrath, Elizabeth Roeder, Jennifer Mueller, Sung-Hae L Kang, Carlos A Bacino, Ankita Patel, Ewa Bocian, Chad A Shaw, Sau Wai Cheung, Tadeusz Mazurczak, Paweł Stankiewic. Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. American journal of human genetics. vol 87. issue 6. 2011-01-18. PMID:21109226. |
recurrent distal 7q11.23 deletion including hip1 and ywhag identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. |
2011-01-18 |
2023-08-12 |
mouse |