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Research Reports

Mutational Analysis of SDCCAG8 in Bardet-Biedl Syndrome Patients with Renal Involvement and Absent Polydactyly

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Pages 150-154 | Received 08 Jan 2012, Accepted 08 Apr 2012, Published online: 24 May 2012

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Andrea Melluso, Floriana Secondulfo, Giovanna Capolongo, Giovambattista Capasso & Miriam Zacchia. (2023) Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook. Therapeutics and Clinical Risk Management 19, pages 115-132.
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Gabrielle Wheway, David A Parry & Colin A Johnson. (2014) The role of primary cilia in the development and disease of the retina. Organogenesis 10:1, pages 69-85.
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Semra Tiryaki Demir, Saniye Üke Uzun, Sümeyra Keleş Yeşiltaş, İbrahim Çağrı Türker & Dilek Güven. (2023) Ocular and Imaging Findings in Bardet-Biedl Syndrome with Advanced Stage Retinal Dystrophy. Hamidiye Medical Journal 4:1, pages 56-62.
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Kao-Jung Chang, Hsin-Yu Wu, Aliaksandr Yarmishyn, Cheng-Yi Li, Yu-Jer Hsiao, Yi-Chun Chi, Tzu-Chen Lo, He-Jhen Dai, Yi-Chiang Yang, Ding-Hao Liu, De-Kuang Hwang, Shih-Jen Chen, Chih-Chien Hsu & Chung-Lan Kao. (2022) Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology. International Journal of Molecular Sciences 23:17, pages 9707.
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Bharatendu Chandra, Moon Ley Tung, Ying Hsu, Todd Scheetz & Val C. Sheffield. (2022) Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: Past, present and future. Progress in Retinal and Eye Research 89, pages 101035.
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Jennifer R. Meyer, Anthony D. Krentz, Richard L. Berg, Jesse G. Richardson, Jeremy Pomeroy, Scott J. Hebbring & Robert M. Haws. (2022) Kidney failure in Bardet – Biedl syndrome . Clinical Genetics 101:4, pages 429-441.
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Ryotaro Tsutsumi, Taro Chaya, Toshinori Tsujii & Takahisa Furukawa. (2022) The carboxyl-terminal region of SDCCAG8 comprises a functional module essential for cilia formation as well as organ development and homeostasis. Journal of Biological Chemistry 298:3, pages 101686.
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Monika K. Grudzinska Pechhacker, Samuel G. Jacobson, Arlene V. Drack, Matteo Di Scipio, Ine Strubbe, Wanda Pfeifer, Jacque L. Duncan, Helene Dollfus, Nathalie Goetz, Jean Muller, Andrea L. Vincent, Tomas S. Aleman, Anupreet Tumber, Caroline Van Cauwenbergh, Elfride De Baere, Emma Bedoukian, Bart P. Leroy, Jason T. Maynes, Francis L. Munier, Erika Tavares, Eman Saleh, Ajoy Vincent & Elise Heon. (2021) Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10 . Investigative Opthalmology & Visual Science 62:15, pages 26.
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Monika K. Grudzinska Pechhacker, Grace Yoon, Lili-Naz Hazrati, Jason Maynes, Heather MacDonald, Erika Tavares, Ajoy Vincent & Elise Heon. (2020) FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy. European Journal of Medical Genetics 63:11, pages 104037.
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Cécile Méjécase, Igor Kozak & Mariya Moosajee. (2020) The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 184:3, pages 762-772.
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Veronika Niederlova, Martin Modrak, Oksana Tsyklauri, Martina Huranova & Ondrej Stepanek. (2019) Meta‐analysis of genotype‐phenotype associations in Bardet‐Biedl syndrome uncovers differences among causative genes. Human Mutation 40:11, pages 2068-2087.
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Edwin C. M. Mariman, Roel G. Vink, Nadia J. T. Roumans, Freek G. Bouwman, Constance T. R. M. Stumpel, Erik E. J. G. Aller, Marleen A. van Baak & Ping Wang. (2016) The cilium: a cellular antenna with an influence on obesity risk. British Journal of Nutrition 116:4, pages 576-592.
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S.A. Khan, N. Muhammad, M.A. Khan, A. Kamal, Z.U. Rehman & S. Khan. (2016) Genetics of human Bardet-Biedl syndrome, an updates. Clinical Genetics 90:1, pages 3-15.
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E. N. Kerr, A. Bhan & E. Héon. (2016) Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome. Clinical Genetics 89:4, pages 426-433.
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Anna-Lena Volckmar, Chung Ting Han, Carolin Pütter, Stefan Haas, Carla I. G. Vogel, Nadja Knoll, Christoph Struve, Maria Göbel, Katharina Haas, Nikolas Herrfurth, Ivonne Jarick, Harald Grallert, Annette Schürmann, Hadi Al-Hasani, Johannes Hebebrand, Sascha Sauer & Anke Hinney. (2016) Analysis of Genes Involved in Body Weight Regulation by Targeted Re-Sequencing. PLOS ONE 11:2, pages e0147904.
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Evgeny N. Suspitsin & Evgeny N. Imyanitov. (2016) Bardet-Biedl Syndrome. Molecular Syndromology 7:2, pages 62-71.
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Ryan Insolera, Wei Shao, Rannar Airik, Friedhelm Hildebrandt & Song-Hai Shi. (2014) SDCCAG8 Regulates Pericentriolar Material Recruitment and Neuronal Migration in the Developing Cortex. Neuron 83:4, pages 805-822.
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Jasmin Divers, Nicholette D. Palmer, Lingyi Lu, Carl D. Langefeld, Michael V. Rocco, Pamela J. Hicks, Mariana Murea, Lijun Ma, Donald W. Bowden & Barry I. Freedman. (2014) Gene–gene interactions in APOL1-associated nephropathy. Nephrology Dialysis Transplantation 29:3, pages 587-594.
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O. M'hamdi, I. Ouertani & H. Chaabouni-Bouhamed. (2014) Update on the Genetics of Bardet-Biedl Syndrome. Molecular Syndromology 5:2, pages 51-56.
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Silvio Alessandro Di Gioia, Stef J.F. Letteboer, Corinne Kostic, Dikla Bandah-Rozenfeld, Lisette Hetterschijt, Dror Sharon, Yvan Arsenijevic, Ronald Roepman & Carlo Rivolta. (2012) FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies. Human Molecular Genetics 21:23, pages 5174-5184.
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