Publications:

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Retinitis Pigmentosa in the Puerto Rican Population: A Geographic Distribution.

Clinical Ophthalmology (Auckland, N.Z.)

Santos, David F DF; Molina Thurin, Leonardo J LJ; Vargas, José Gustavo JG; Izquierdo, Natalio J NJ; Oliver, Armando A

Publication Date: 2022

Variant appearance in text: BBS7: Thr211Ile

PubMed Link: 36196406

Variant Present in the following documents:

• Main text
• opth-16-3175.pdf

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: BBS7: 632C>T; Thr211Ile

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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A Genotype-Phenotype Analysis of the Bardet-Biedl Syndrome in Puerto Rico.

Clinical Ophthalmology (Auckland, N.Z.)

Guardiola, Gabriel A GA; Ramos, Fabiola F; Izquierdo, Natalio J NJ; Oliver, Armando L AL

Publication Date: 2021

Variant appearance in text: BBS7: 632C>T; Thr211Ile

PubMed Link: 34526762

Variant Present in the following documents:

• Main text
• opth-15-3757.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: BBS7: T211I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.

Journal Of Cell Science

Zhang, Qihong Q; Nishimura, Darryl D; Vogel, Tim T; Shao, Jianqiang J; Swiderski, Ruth R; Yin, Terry T; Searby, Charles C; Carter, Calvin S CS; Kim, Gunhee G; Bugge, Kevin K; Stone, Edwin M EM; Sheffield, Val C VC

Publication Date: 2013-06-01

Variant appearance in text: BBS7: T211I

PubMed Link: 23572516

Variant Present in the following documents:

• Main text

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Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.

The Journal Of Biological Chemistry

Zhang, Qihong Q; Yu, Dahai D; Seo, Seongjin S; Stone, Edwin M EM; Sheffield, Val C VC

Publication Date: 2012-06-08

Variant appearance in text: BBS7: T211I

PubMed Link: 22500027

Variant Present in the following documents:

• Main text
• zbc20625.pdf

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Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation.

Journal Of Cell Science

Gascue, Cecilia C; Tan, Perciliz L PL; Cardenas-Rodriguez, Magdalena M; Libisch, Gabriela G; Fernandez-Calero, Tamara T; Liu, Yangfan P YP; Astrada, Soledad S; Robello, Carlos C; Naya, Hugo H; Katsanis, Nicholas N; Badano, Jose L JL

Publication Date: 2012-01-15

Variant appearance in text: BBS7: T211I

PubMed Link: 22302990

Variant Present in the following documents:

• Main text

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Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

Investigative Ophthalmology & Visual Science

Chen, Jianjun J; Smaoui, Nizar N; Hammer, Monia Ben Hamed MB; Jiao, Xiaodong X; Riazuddin, S Amer SA; Harper, Shyana S; Katsanis, Nicholas N; Riazuddin, Sheikh S; Chaabouni, Habiba H; Berson, Eliot L EL; Hejtmancik, J Fielding JF

Publication Date: 2011-07-18

Variant appearance in text: BBS7: 632C>T; T211I

PubMed Link: 21642631

Variant Present in the following documents:

• Main text

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A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

Molecular Vision

Yang, Zhenglin Z; Yang, Yang Y; Zhao, Peiquan P; Chen, Kechun K; Chen, Bin B; Lin, Ying Y; Guo, Fuqiang F; Chen, Yigong Y; Liu, Xiaoqi X; Lu, Fang F; Shi, Yi Y; Zhang, Dingding D; Liao, Shihuang S; Xia, Qingyou Q

Publication Date: 2008

Variant appearance in text: BBS7: T211I

PubMed Link: 19093007

Variant Present in the following documents:

• Main text
• mv-v14-2304.pdf

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Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

American Journal Of Human Genetics

Beales, Philip L PL; Badano, Jose L JL; Ross, Alison J AJ; Ansley, Stephen J SJ; Hoskins, Bethan E BE; Kirsten, Brigitta B; Mein, Charles A CA; Froguel, Philippe P; Scambler, Peter J PJ; Lewis, Richard Alan RA; Lupski, James R JR; Katsanis, Nicholas N

Publication Date: 2003-05

Variant appearance in text: BBS7: T211I

PubMed Link: 12677556

Variant Present in the following documents:

• Main text

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Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

American Journal Of Human Genetics

Badano, José L JL; Ansley, Stephen J SJ; Leitch, Carmen C CC; Lewis, Richard Alan RA; Lupski, James R JR; Katsanis, Nicholas N

Publication Date: 2003-03

Variant appearance in text: BBS7: T211I

PubMed Link: 12567324

Variant Present in the following documents:

• Main text

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