PMC Links for GEO Profiles (Select 45279288) - PMC

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Items: 10

Select item 111363771.

Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport

O. E. Blacque, M. R. Leroux

Cell Mol Life Sci. 2006 Sep; 63(18): 2145–2161. Published online 2006 Aug 11. doi: 10.1007/s00018-006-6180-x

PMCID:: PMC11136377

Abstract Article PDF–476K

Select item 89172222.

Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition

Markus Masek, Christelle Etard, Claudia Hofmann, Andreas J. Hülsmeier, Jingjing Zang, Masanari Takamiya, Matthias Gesemann, Stephan C. F. Neuhauss, Thorsten Hornemann, Uwe Strähle, Ruxandra Bachmann-Gagescu

Nat Commun. 2022; 13: 1282. Published online 2022 Mar 11. doi: 10.1038/s41467-022-28982-6

PMCID:: PMC8917222

Abstract Article PDF–6.9M

Select item 87336343.

Evolutionarily conserved genetic interactions between nphp-4 and bbs-5 mutations exacerbate ciliopathy phenotypes

Melissa R Bentley-Ford, Melissa LaBonty, Holly R Thomas, Courtney J Haycraft, Mikyla Scott, Cameron LaFayette, Mandy J Croyle, Reagan S Andersen, John M Parant, Bradley K Yoder

Genetics. 2022 Jan; 220(1): iyab209. Published online 2021 Nov 22. doi: 10.1093/genetics/iyab209

PMCID:: PMC8733634

Abstract Article PDF–1.8M

Select item 49740854.

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

Anna Lindstrand, Stephan Frangakis, Claudia M.B. Carvalho, Ellen B. Richardson, Kelsey A. McFadden, Jason R. Willer, Davut Pehlivan, Pengfei Liu, Igor L. Pediaditakis, Aniko Sabo, Richard Alan Lewis, Eyal Banin, James R. Lupski, Erica E. Davis, Nicholas Katsanis

Am J Hum Genet. 2016 Aug 4; 99(2): 318–336. Published online 2016 Aug 2. doi: 10.1016/j.ajhg.2015.04.023

PMCID:: PMC4974085

Abstract Article PDF–2.3M

Select item 46341375.

RFX transcription factors are essential for hearing in mice

Ran Elkon, Beatrice Milon, Laura Morrison, Manan Shah, Sarath Vijayakumar, Manoj Racherla, Carmen C. Leitch, Lorna Silipino, Shadan Hadi, Michèle Weiss-Gayet, Emmanuèle Barras, Christoph D. Schmid, Aouatef Ait-Lounis, Ashley Barnes, Yang Song, David J. Eisenman, Efrat Eliyahu, Gregory I. Frolenkov, Scott E. Strome, Bénédicte Durand, Norann A. Zaghloul, Sherri M. Jones, Walter Reith, Ronna Hertzano

Nat Commun. 2015; 6: 8549. Published online 2015 Oct 15. doi: 10.1038/ncomms9549

PMCID:: PMC4634137

Abstract Article PDF–5.5M

Select item 39312816.

Functional modelling of a novel mutation in BBS5

Mohamed H Al-Hamed, Charles van Lennep, Ann Marie Hynes, Paul Chrystal, Lorraine Eley, Fatimah Al-Fadhly, Riham El Sayed, Roslyn J Simms, Brian Meyer, John A Sayer

Cilia. 2014; 3: 3. Published online 2014 Feb 21. doi: 10.1186/2046-2530-3-3

PMCID:: PMC3931281

Abstract Article PDF–6.5M

Select item 31780597.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 29009028.

Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning

Marwan K. Tayeh, Hsan-Jan Yen, John S. Beck, Charles C. Searby, Trudi A. Westfall, Hilary Griesbach, Val C. Sheffield, Diane C. Slusarski

Hum Mol Genet. 2008 Jul 1; 17(13): 1956–1967. Published online 2008 Apr 1. doi: 10.1093/hmg/ddn093

PMCID:: PMC2900902

Abstract Article PDF–631K

Select item 28907809.

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet–Biedl syndrome

Norann A. Zaghloul, Yangjian Liu, Jantje M. Gerdes, Cecilia Gascue, Edwin C. Oh, Carmen C. Leitch, Yana Bromberg, Jonathan Binkley, Rudolph L. Leibel, Arend Sidow, Jose L. Badano, Nicholas Katsanis

Proc Natl Acad Sci U S A. 2010 Jun 8; 107(23): 10602–10607. Published online 2010 May 24. doi: 10.1073/pnas.1000219107