378
Views
21
CrossRef citations to date
0
Altmetric
Research Reports

C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies

, , , &
Pages 290-293 | Received 28 May 2015, Accepted 12 Jun 2015, Published online: 08 Feb 2016

Keep up to date with the latest research on this topic with citation updates for this article.

Read on this site (2)

Monika K Grudzinska Pechhacker, Anna Molnar, Nadja Pekkola Pacheco, Håkan Thonberg, Laurence Querat, Ulrika Birkeldh, Ann Nordgren & Anna Lindstrand. (2023) Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1. Ophthalmic Genetics 0:0, pages 1-8.
Read now
Arif O. Khan, Nisha Patel, Nicola G. Ghazi, Shahad S. Alzahrani, Stefan T. Arold & Fowzan S. Alkuraya. (2018) Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation. Ophthalmic Genetics 39:5, pages 577-583.
Read now

Articles from other publishers (19)

Xiaoyu Tian, Huijie Zhao & Jun Zhou. (2023) Organization, functions, and mechanisms of the BBSome in development, ciliopathies, and beyond. eLife 12.
Crossref
Shiwali Goyal, Kabir Singh, Aashna Uppal & Vanita Vanita. (2023) A nonsense mutation in C8orf37 linked with retinitis pigmentosa, early macular degeneration, cataract, and myopia in an arRP family from North India. BMC Ophthalmology 23:1.
Crossref
Greta Amore, Giulia Spoto, Anna Scuderi, Adriana Prato, Daniela Dicanio, Antonio Nicotera, Giovanni Farello, Roberto Chimenz, Ida Ceravolo, Vincenzo Salpietro, Eloisa Gitto, Giorgia Ceravolo, Giulia Iapadre, Gabriella Di Rosa & Erica Pironti. (2022) Bardet–Biedl Syndrome: A Brief Overview on Clinics and Genetics. Journal of Pediatric Neurology 21:01, pages 033-040.
Crossref
Yu Liu, Jinjun Chen, Rachel Sager, Erika Sasaki & Huaiyu Hu. (2022) Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival. International Journal of Molecular Sciences 23:19, pages 12033.
Crossref
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.
Crossref
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.
Crossref
Natacha Sloboda, Laetitia Lambert, Viorica Ciorna, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Vladimir Gomola, Jean‐Louis Lemelle, Olivier Klein, Marie‐Christine Camoin‐Schweitzer, Marie Magnavacca, Carole Legagneur, Marie‐Laure Ezsto, Céline Bonnet, Christophe Philippe & Bruno Leheup. (2022) Atypical phenotype of a patient with Bardet–Biedl syndrome type 4. Molecular Genetics & Genomic Medicine 10:5.
Crossref
Huajin Li, Yanfeng Huang, Jing Li & Maosong Xie. (2022) Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome . Molecular Genetics & Genomic Medicine 10:3.
Crossref
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.
Crossref
Li Huang, Limei Sun, Zhirong Wang, Songshan Li, Chonglin Chen, Xiaoling Luo & Xiaoyan Ding. (2021) Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome. Journal of Ophthalmology 2021, pages 1-8.
Crossref
Yasmin Tatour & Tamar Ben-Yosef. (2020) Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects. Diagnostics 10:10, pages 779.
Crossref
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.
Crossref
Ohad Wormser, Libe Gradstein, Yuval Yogev, Yonatan Perez, Rotem Kadir, Inna Goliand, Yair Sadka, Saad El Riati, Hagit Flusser, Dikla Nachmias, Ruth Birk, Muhamad Iraqi, Einat Kadar, Roni Gat, Max Drabkin, Daniel Halperin, Amir Horev, Sara Sivan, Uri Abdu, Natalie Elia & Ohad S. Birk. (2019) SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. European Journal of Human Genetics 27:6, pages 928-940.
Crossref
V. Tam, M. Turcotte & D. Meyre. (2018) Established and emerging strategies to crack the genetic code of obesity. Obesity Reviews 20:2, pages 212-240.
Crossref
Cedric R. Uytingco, Corey L. Williams, Chao Xie, Dana T. Shively, Warren W. Green, Kirill Ukhanov, Lian Zhang, Darryl Y. Nishimura, Val C. Sheffield & Jeffrey R. Martens. (2019) BBS4 is required for IFT coordination and basal body number in mammalian olfactory cilia.. Journal of Cell Science.
Crossref
Xue Chen, Xunlun Sheng, Yani Liu, Zili Li, Xiantao Sun, Chao Jiang, Rui Qi, Shiqin Yuan, Xuhui Wang, Ge Zhou, Yanyan Zhen, Ping Xie, Qinghuai Liu, Biao Yan & Chen Zhao. (2018) Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees. Journal of Translational Medicine 16:1.
Crossref
Ali S. Sharif, Dongmei Yu, Stuart Loertscher, Richard Austin, Kevin Nguyen, Pranav D. Mathur, Anna M. Clark, Junhuang Zou, Ekaterina S. Lobanova, Vadim Y. Arshavsky & Jun Yang. (2018) C8ORF37 Is Required for Photoreceptor Outer Segment Disc Morphogenesis by Maintaining Outer Segment Membrane Protein Homeostasis. The Journal of Neuroscience 38:13, pages 3160-3176.
Crossref
Elizabeth Forsythe, Joanna Kenny, Chiara Bacchelli & Philip L. Beales. (2018) Managing Bardet–Biedl Syndrome—Now and in the Future. Frontiers in Pediatrics 6.
Crossref
Y. Kaur, R. J. de Souza, W. T. Gibson & D. Meyre. (2017) A systematic review of genetic syndromes with obesity. Obesity Reviews 18:6, pages 603-634.
Crossref

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.