Glossary entry

English term or phrase:

in-frame rod deletion

Serbian translation:

unutarokvirna delecija štapićastog domena

Added to glossary by Svetomir Mijovic
Jun 6, 2023 07:35
12 mos ago
11 viewers *
English term

in-frame rod deletion

English to Serbian Medical Medical: Pharmaceuticals Duchenne Muscular Dystrop
The micro-dystrophin construct was characterized by an in-frame rod deletion (R4-R23), while hinges 1, 2 and 4 and cysteine rich domain remain producing a 138 kDa protein.

Proposed translations

3 hrs
Selected

unutarokvirna delecija štapićastog domena

"Region koji se vezuje za aktin -
N-terminalni domen 
Region bogat aminokiselinom cistein 
Savitljivi regioni 
Štapićasti domeni
C-terminalni domen"

http://webcache.googleusercontent.com/search?q=cache:Rl8JAMc...

"Najčešći oblik mutacije kod obolelih od SMA je delecija. Delecija znači odsustvo nekog dela DNK koja se nalazi u genu. Kod SMA postoji delecija delova gena koji ne nazivaju egzoni."
https://neuronet.rs/sma/o-sma/nasledjivane-spinalne-misicne-...

"Insercija je umetanje jednog ili više nukleotida, a delecija je gubitak jednog ili više nukleotida. Broj nukleotida koji se gubi ili dobija se kreće od jednog pa do nekoliko hiljada. Insercija i delecija izazivaju promenu okvira čitanja (engl. frameshift mutation) genetičkog koda od mesta mutacije pa nadalje do kraja.Time se sintetiše protein čiji je redosled aminokiselina izmenjen od mesta mutacije pa nadalje."
https://www.bionet-skola.com/w/Genske_mutacije

"Pogrešne tačkaste mutacije, engl. missense (25,5%) i pojedinačne unutar-okvirne amino-kiselinske delecije ili insercije - engl. in frame del/ins (5,5%) ne dovode do očigledne inaktivacije menina, ali mogu dovesti do zamene ili brisanja značajnih amino-kiselina."
https://webcache.googleusercontent.com/search?q=cache:ZWX_Dh...
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4 KudoZ points awarded for this answer. Comment: "Hvala!"
3 hrs

delecija u okviru šipke

Specific type of genetic alteration where certain parts of a gene are removed or deleted without disrupting the reading frame of the gene.

This is a technical term used in genetics, and it's especially relevant in the context of diseases like Duchenne Muscular Dystrophy, which is caused by mutations in the dystrophin gene.
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Reference comments

2 hrs
Reference:

this could be useful

https://doiserbia.nb.rs/img/doi/0042-8450/2020/0042-84501800...

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Note added at 2 heures (2023-06-06 10:11:24 GMT)
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and

https://scindeks.ceon.rs/article.aspx?artid=0042-84502004387...

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Note added at 3 heures (2023-06-06 11:10:48 GMT)
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zahvaćen štapićasti domen = central rod domain

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Note added at 3 heures (2023-06-06 11:15:21 GMT)
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Duchenne i Becker-ova mišićna distrofija (DMD i BMD). ... DMD 3' 5' Egzoni Najčešća delecija DMD je out-of-frame delecija egzona 45.

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Note added at 3 heures (2023-06-06 11:16:07 GMT)
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https://phaidrabg.bg.ac.rs/open/o:19145

In frame/out of frame delecije u genu za distrofin (preuzeto sa ... DMD bolesnika ima mutaciju u ovom domenu, a najčešće su zahvaćeni
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