A knockin mouse model of the Bardet–Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

Bardet–Biedl syndrome (BBS) is a genetically heterogeneous disorder that results in retinal degeneration, obesity, cognitive impairment, polydactyly, renal abnormalities, and hypogenitalism. Of the 12 known BBS genes, BBS1 is the most commonly mutated, and a single missense mutation (M390R) accounts...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Davis, Roger E., Swiderski, Ruth E., Rahmouni, Kamal, Nishimura, Darryl Y., Mullins, Robert F., Agassandian, Khristofor, Philp, Alisdair R., Searby, Charles C., Andrews, Michael P., Thompson, Stewart, Berry, Christopher J., Thedens, Daniel R., Yang, Baoli, Weiss, Robert M., Cassell, Martin D., Stone, Edwin M., Sheffield, Val C.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: National Academy of Sciences 2007
Pynciau:
Biological Sciences
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2148305/
https://ncbi.nlm.nih.gov/pubmed/18032602
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0708571104
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg