Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome
Tae-Yeon Eom, J Eric Schmitt, Yiran Li, Christopher M Davenport, Jeffrey Steinberg, Audrey Bonnan, Shahinur Alam, Young Sang Ryu, Leena Paul, Baranda S Hansen, Khaled Khairy, Stephane Pelletier, Shondra M Pruett-Miller, David R Roalf, Raquel E Gur, Beverly S Emanuel, Donna M McDonald-McGinn, Jesse N · 2024
Read Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome by Tae-Yeon Eom, J Eric Schmitt, Yiran Li, Christopher M Davenport, Jeffrey Steinberg, Audrey Bonnan, Shahinur Alam, Young Sang Ryu, Leena Paul, Baranda S Hansen, Khaled Khairy, Stephane Pelletier, Shondra M Pruett-Miller, David R Roalf, Raquel E Gur, Beverly S Emanuel, Donna M McDonald-McGinn, Jesse N (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11621701.txt.
Description
Tae-Yeon Eom and co-authors trace a brain flaw in a genetic syndrome to a bone flaw in this 2024 study. The syndrome comes from a missing chunk of one chromosome and can affect learning and movement. Two small lobes at the back of the brain are shrunken in both mice and people with the syndrome.
In mice, having only one copy of a gene in the missing chunk caused the lobe flaw. It also weakened cell links in that area and harmed motor learning, though cell makeup stayed normal. The same mice had a malformed pocket in the skull bone that holds those lobes. Gene data suggest the bone cells mature too early, which may drive both flaws.
Catalog record
| CREATOR | Tae-Yeon Eom, J Eric Schmitt, Yiran Li, Christopher M Davenport, Jeffrey Steinberg, Audrey Bonnan, Shahinur Alam, Young Sang Ryu, Leena Paul, Baranda S Hansen, Khaled Khairy, Stephane Pelletier, Shondra M Pruett-Miller, David R Roalf, Raquel E Gur, Beverly S Emanuel, Donna M McDonald-McGinn, Jesse N |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 95 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |