Literature DB >> 25553308

Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome.

Seok Joon Shin1, Myungshin Kim2, Hyojin Chae2, Ahlm Kwon3, Yonggoo Kim2, Sung Jun Kim1, Hye Eun Yoon1, Dong Wook Jekarl4, Seungok Lee4.   

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Year:  2014        PMID： 25553308      PMCID： PMC4272959          DOI： 10.3343/alm.2015.35.1.181

Source DB:  PubMed          Journal:  Ann Lab Med        ISSN： 2234-3806            Impact factor:   3.464


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  10 in total

1.  A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

Authors:  Maxence V Nachury; Alexander V Loktev; Qihong Zhang; Christopher J Westlake; Johan Peränen; Andreas Merdes; Diane C Slusarski; Richard H Scheller; J Fernando Bazan; Val C Sheffield; Peter K Jackson
Journal:  Cell       Date:  2007-06-15       Impact factor: 41.582

2.  New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

Authors:  P L Beales; N Elcioglu; A S Woolf; D Parker; F A Flinter
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

3.  BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

Authors:  Catherine Deveault; Gail Billingsley; Jacque L Duncan; Jenea Bin; Rebecca Theal; Ajoy Vincent; Karen J Fieggen; Christina Gerth; Nima Noordeh; Elias I Traboulsi; Gerald A Fishman; David Chitayat; Tanja Knueppel; José M Millán; Francis L Munier; Debra Kennedy; Samuel G Jacobson; A Micheil Innes; Grant A Mitchell; Kym Boycott; Elise Héon
Journal:  Hum Mutat       Date:  2011-03-22       Impact factor: 4.878

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

Authors:  Jianjun Chen; Nizar Smaoui; Monia Ben Hamed Hammer; Xiaodong Jiao; S Amer Riazuddin; Shyana Harper; Nicholas Katsanis; Sheikh Riazuddin; Habiba Chaabouni; Eliot L Berson; J Fielding Hejtmancik
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-07-18       Impact factor: 4.799

5.  Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

Authors:  N Katsanis; S J Ansley; J L Badano; E R Eichers; R A Lewis; B E Hoskins; P J Scambler; W S Davidson; P L Beales; J R Lupski
Journal:  Science       Date:  2001-09-21       Impact factor: 47.728

6.  BBS mutational analysis: a strategic approach.

Authors:  Gail Billingsley; Catherine Deveault; Elise Héon
Journal:  Ophthalmic Genet       Date:  2011-04-04       Impact factor: 1.803

Review 7.  Making sense of cilia in disease: the human ciliopathies.

Authors:  Kate Baker; Philip L Beales
Journal:  Am J Med Genet C Semin Med Genet       Date:  2009-11-15       Impact factor: 3.908

8.  Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport.

Authors:  Oliver E Blacque; Michael J Reardon; Chunmei Li; Jonathan McCarthy; Moe R Mahjoub; Stephen J Ansley; Jose L Badano; Allan K Mah; Philip L Beales; William S Davidson; Robert C Johnsen; Mark Audeh; Ronald H A Plasterk; David L Baillie; Nicholas Katsanis; Lynne M Quarmby; Stephen R Wicks; Michel R Leroux
Journal:  Genes Dev       Date:  2004-07-01       Impact factor: 11.361

9.  Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

Authors:  Xia Wang; Hui Wang; Vincent Sun; Han-Fang Tuan; Vafa Keser; Keqing Wang; Huanan Ren; Irma Lopez; Jacques E Zaneveld; Sorath Siddiqui; Stephanie Bowles; Ayesha Khan; Jason Salvo; Samuel G Jacobson; Alessandro Iannaccone; Feng Wang; David Birch; John R Heckenlively; Gerald A Fishman; Elias I Traboulsi; Yumei Li; Dianna Wheaton; Robert K Koenekoop; Rui Chen
Journal:  J Med Genet       Date:  2013-07-11       Impact factor: 6.318

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

Authors:  Qihong Zhang; Darryl Nishimura; Tim Vogel; Jianqiang Shao; Ruth Swiderski; Terry Yin; Charles Searby; Calvin S Carter; Gunhee Kim; Kevin Bugge; Edwin M Stone; Val C Sheffield
Journal:  J Cell Sci       Date:  2013-04-09       Impact factor: 5.285
  10 in total
  6 in total

1.  Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient.

Authors:  Yong Hoon Kim; Kwang Sic Joo; Moon Woo Seong; Sung Sup Park; Se Joon Woo
Journal:  Korean J Ophthalmol       Date:  2020-02

2.  Two brothers with bardet-biedl syndrome presenting with chronic renal failure.

Authors:  Cem Sahin; Bulent Huddam; Gulhan Akbaba; Hasan Tunca; Emine Koca; Mustafa Levent
Journal:  Case Rep Nephrol       Date:  2015-04-15

3.  Genetics of body fat mass and related traits in a pig population selected for leanness.

Authors:  Henry Reyer; Patrick F Varley; Eduard Murani; Siriluck Ponsuksili; Klaus Wimmers
Journal:  Sci Rep       Date:  2017-08-22       Impact factor: 4.379

4.  Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome.

Authors:  Ghazanfar Ali; Jia Nee Foo; Abdul Nasir; Chu-Hua Chang; Elaine GuoYan Chew; Zahid Latif; Zahid Azeem; Syeda Ain-Ul-Batool; Syed Akif Raza Kazmi; Naheed Bashir Awan; Abdul Hameed Khan; Fazal-Ur- Rehman; Madiha Khalid; Abdul Wali; Samina Sarwar; Wasim Akhtar; Ansar Ahmed Abbasi; Rameez Nisar
Journal:  Biomed Res Int       Date:  2021-02-23       Impact factor: 3.411

5.  Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.

Authors:  Tomas S Aleman; Erin C O'Neil; Keli O'Connor; Yu You Jiang; Isabella A Aleman; Jean Bennett; Jessica I W Morgan; Brian W Toussaint
Journal:  Ophthalmic Genet       Date:  2021-03-17       Impact factor: 1.274

6.  Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

Authors:  Asmat Ullah; Muhammad Umair; Maryam Yousaf; Sher Alam Khan; Muhammad Nazim-Ud-Din; Khadim Shah; Farooq Ahmad; Zahid Azeem; Ghazanfar Ali; Bader Alhaddad; Afzal Rafique; Abid Jan; Tobias B Haack; Tim M Strom; Thomas Meitinger; Tahseen Ghous; Wasim Ahmad
Journal:  Mol Vis       Date:  2017-07-21       Impact factor: 2.367
  6 in total

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