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Select item 109581691.

Novel homozygous mutations in TXNDC15 causing Meckel syndrome

Tianqin Deng, Yuli Xie

Mol Genet Genomic Med. 2024 Mar; 12(3): e2343. Published online 2023 Dec 29. doi: 10.1002/mgg3.2343

PMCID:: PMC10958169

Abstract Article PDF–835K

Select item 107676742.

First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non‐consanguineous Chinese family

Huiling Xu, Jiajie Pu, Ningjie Yang, Zhengzhong Wu, Chanlin Han, Jilong Yao, Xuemei Li

Mol Genet Genomic Med. 2024 Jan; 12(1): e2340. Published online 2023 Dec 11. doi: 10.1002/mgg3.2340

PMCID:: PMC10767674

Abstract Article PDF–447K

Select item 100323203.

Joubert syndrome: Molecular basis and treatment

Lidvana Spahiu, Emir Behluli, Violeta Grajçevci-Uka, Thomas Liehr, Gazmend Temaj

J Mother Child. 2022 Mar; 26(1): 118–123. Published online 2023 Feb 22. doi: 10.34763/jmotherandchild.20222601.d-22-00034

PMCID:: PMC10032320

Abstract Article PDF–554K

Select item 98441364.

Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants

Jun Wang, Holly R. Thomas, Robert G. Thompson, Stephanie C. Waldrep, Joseph Fogerty, Ping Song, Zhang Li, Yongjie Ma, Peu Santra, Jonathan D. Hoover, Nan Cher Yeo, Iain A. Drummond, Bradley K. Yoder, Jeffrey D. Amack, Brian Perkins, John M. Parant

Dis Model Mech. 2022 Dec 1; 15(12): dmm049568. Published online 2022 Dec 19. doi: 10.1242/dmm.049568

PMCID:: PMC9844136

Abstract Article

Select item 94371355.

The Joubert–Meckel–Nephronophthisis Spectrum of Ciliopathies

Julie C. Van De Weghe, Arianna Gomez, Dan Doherty

Annu Rev Genomics Hum Genet. Author manuscript; available in PMC 2022 Sep 2.

Published in final edited form as: Annu Rev Genomics Hum Genet. 2022 Aug 31; 23: 301–329. Published online 2022 Jun 2. doi: 10.1146/annurev-genom-121321-093528

PMCID:: PMC9437135

Abstract Article PDF–2.1M

Select item 93526156.

Three Novel Variants of CEP290 and CC2D2DA and a Link Between ZNF77 and SHH Signaling Pathway Are Found in Two Meckel-Gruber Syndrome Fetuses

Zhidan Hong, Xuanyi He, Fang Yu, Huanyu Liu, Xiaoli Zhang, Yuanzhen Zhang

Reprod Sci. 2022 Aug; 29(8): 2322–2332. Published online 2022 Jan 3. doi: 10.1007/s43032-021-00835-5

PMCID:: PMC9352615

Abstract Article PDF–2.5M

Select item 93005267.

Fetal ciliopathies: a retrospective observational single-center study

Corinna Simonini, Anne Floeck, Brigitte Strizek, Andreas Mueller, Ulrich Gembruch, Annegret Geipel

Arch Gynecol Obstet. 2022; 306(1): 71–83. Published online 2021 Oct 1. doi: 10.1007/s00404-021-06265-7

PMCID:: PMC9300526

Abstract Article PDF–1.4M

Select item 90346638.

Evaluation of novel compound variants of CEP290 in prenatally suspected case of Meckel syndrome through whole exome sequencing

Meilian Peng, Shuai Han, Juan Sun, Xiaodong He, Yaer Lv, Liwei Yang

Mol Genet Genomic Med. 2022 May; 10(5): e1935. Published online 2022 Mar 30. doi: 10.1002/mgg3.1935

PMCID:: PMC9034663

Abstract Article PDF–3.4M

Select item 86836969.

Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies

Miguel Barroso‐Gil, Eric Olinger, Simon A. Ramsbottom, Elisa Molinari, Colin G. Miles, John A. Sayer

Mol Genet Genomic Med. 2021 Dec; 9(12): e1603. Published online 2021 Jan 24. doi: 10.1002/mgg3.1603

PMCID:: PMC8683696

Abstract Article PDF–1.5M

Select item 830431410.

Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations

Agnieszka Stembalska, Małgorzata Rydzanicz, Agnieszka Pollak, Grazyna Kostrzewa, Piotr Stawinski, Mateusz Biela, Rafal Ploski, Robert Smigiel

Genes (Basel) 2021 Jul; 12(7): 1078. Published online 2021 Jul 16. doi: 10.3390/genes12071078

PMCID:: PMC8304314

Abstract Article PDF–606K

Select item 785970111.

Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans

Karen I. Lange, Sofia Tsiropoulou, Katarzyna Kucharska, Oliver E. Blacque

Dis Model Mech. 2021 Jan 1; 14(1): dmm046631. Published online 2021 Jan 26. doi: 10.1242/dmm.046631

PMCID:: PMC7859701

Abstract Article

Select item 755069812.

Formation of the B9-domain protein complex MKS1–B9D2–B9D1 is essential as a diffusion barrier for ciliary membrane proteins

Misato Okazaki, Takuya Kobayashi, Shuhei Chiba, Ryota Takei, Luxiaoxue Liang, Kazuhisa Nakayama, Yohei Katoh

Mol Biol Cell. 2020 Sep 15; 31(20): 2259–2268. doi: 10.1091/mbc.E20-03-0208

PMCID:: PMC7550698

Abstract Article PDF–2.5M

Select item 752727213.

Two novel TCTN2 mutations cause Meckel–Gruber syndrome

Manli Zhang, Zhijie Chang, Yaping Tian, Longxia Wang, Yanping Lu

J Hum Genet. 2020; 65(11): 1039–1043. Published online 2020 Jul 12. doi: 10.1038/s10038-020-0804-0

PMCID:: PMC7527272

Abstract Article PDF–1.6M

Select item 742570014.

TMEM216 Deletion Causes Mislocalization of Cone Opsin and Rhodopsin and Photoreceptor Degeneration in Zebrafish

Yu Liu, Shuqin Cao, Miao Yu, Huaiyu Hu

Invest Ophthalmol Vis Sci. 2020 Jul; 61(8): 24. Published online 2020 Jul 20. doi: 10.1167/iovs.61.8.24

PMCID:: PMC7425700

Abstract Article PDF–14M

Select item 699168215.

Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome

Rui Zhang, Shaoyun Chen, Peng Han, Fangfang Chen, Shan Kuang, Zhuo Meng, Junnian Liu, Ruliang Sun, Zhiwei Wang, Xiaohong He, Yong Li, Yuanning Guan, Zhengfang Yue, Chen Li, Subrata Kumar Dey, Yuanfang Zhu, Santasree Banerjee

J Cell Mol Med. 2020 Jan; 24(2): 1906–1916. Published online 2019 Dec 15. doi: 10.1111/jcmm.14887

PMCID:: PMC6991682

Abstract Article PDF–1.4M

Select item 650301216.

A prenatally diagnosed case of Meckel–Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene

Konstantin Ridnõi, Marek Šois, Eve Vaidla, Sander Pajusalu, Larissa Kelder, Tiia Reimand, Katrin Õunap

Mol Genet Genomic Med. 2019 May; 7(5): e614. Published online 2019 Mar 9. doi: 10.1002/mgg3.614

PMCID:: PMC6503012

Abstract Article PDF–411K

Select item 635584017.

Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation

Joon W. Shim, Paul R. Territo, Stefanie Simpson, John C. Watson, Lei Jiang, Amanda A. Riley, Brian McCarthy, Scott Persohn, Daniel Fulkerson, Bonnie L. Blazer-Yost

Sci Rep. 2019; 9: 1069. Published online 2019 Jan 31. doi: 10.1038/s41598-018-37620-5

PMCID:: PMC6355840

Abstract Article PDF–7.4M

Select item 635509318.

Mks6 mutations reveal tissue- and cell type-specific roles for the cilia transition zone

Wesley R. Lewis, Katie L. Bales, Dustin Z. Revell, Mandy J. Croyle, Staci E. Engle, Cheng Jack Song, Erik B. Malarkey, Cedric R. Uytingco, Dan Shan, Patrick J. Antonellis, Tim R. Nagy, Robert A. Kesterson, Michal M. Mrug, Jeffrey R. Martens, Nicolas F. Berbari, Alecia K. Gross, Bradley K. Yoder

FASEB J. 2019 Jan; 33(1): 1440–1455. Published online 2018 Aug 22. doi: 10.1096/fj.201801149R