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A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.
Zhang M, Cheng J, Liu A, Wang L, Xiong L, Chen M, Sun Y, Li J, Lu Y, Yuan H, Li Y, Lu Y. Zhang M, et al. Int J Clin Exp Pathol. 2015 May 1;8(5):5379-86. eCollection 2015. Int J Clin Exp Pathol. 2015. PMID: 26191240 Free PMC article.
DNA sequencing of affected fetuses revealed a homozygous c.1645C>T substitution in exon 16 of TMEM67, leading to a p.R549C substitution in meckelin. The R549 residue is highly conserved across human, rat, mouse, zebrafish, chicken, wolf and platypus genomes. ...
DNA sequencing of affected fetuses revealed a homozygous c.1645C>T substitution in exon 16 of TMEM67, leading to a p.R549C substit …
A mouse model for Meckel syndrome type 3.
Cook SA, Collin GB, Bronson RT, Naggert JK, Liu DP, Akeson EC, Davisson MT. Cook SA, et al. J Am Soc Nephrol. 2009 Apr;20(4):753-64. doi: 10.1681/ASN.2008040412. Epub 2009 Feb 11. J Am Soc Nephrol. 2009. PMID: 19211713 Free PMC article.
The disorder is hypothesized to be caused by defects in primary cilia. In humans, the underlying mutated gene, TMEM67, encodes transmembrane protein 67, also called meckelin (OMIM 609884), which is an integral protein of the renal epithelial cell and membrane of the primar …
The disorder is hypothesized to be caused by defects in primary cilia. In humans, the underlying mutated gene, TMEM67, encodes transm …
Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3).
Lu Y, Peng H, Jin Z, Cheng J, Wang S, Ma M, Lu Y, Han D, Yao Y, Li Y, Yuan H. Lu Y, et al. PLoS One. 2013 Sep 5;8(9):e73245. doi: 10.1371/journal.pone.0073245. eCollection 2013. PLoS One. 2013. PMID: 24039893 Free PMC article.
Meckel-Gruber syndrome type 3 is an autosomal recessive genetic defect caused by mutations in TMEM67 gene. In our previous study, we have identified a homozygous TMEM67 mutation in a Chinese family exhibiting clinical characteristics of MKS3, which provided a ground …
Meckel-Gruber syndrome type 3 is an autosomal recessive genetic defect caused by mutations in TMEM67 gene. In our previous study, we …
mtor Haploinsufficiency Ameliorates Renal Cysts and Cilia Abnormality in Adult Zebrafish tmem67 Mutants.
Zhu P, Qiu Q, Harris PC, Xu X, Lin X. Zhu P, et al. J Am Soc Nephrol. 2021 Apr;32(4):822-836. doi: 10.1681/ASN.2020070991. Epub 2021 Feb 11. J Am Soc Nephrol. 2021. PMID: 33574160 Free PMC article.
METHODS: Transcription activator-like effector nucleases (TALEN) technology was used to generate mutant for tmem67, the homolog of the mammalian causative gene for Meckel syndrome type 3 (MKS3). ...A hypomorphic mtor strain or rapamycin was used …
METHODS: Transcription activator-like effector nucleases (TALEN) technology was used to generate mutant for tmem67, the homolog of th …
EXPANDED PHENOTYPE OF TMEM67 GENE MUTATION (CASE REPORT).
Tkemaladze T, Melikishvili G, Kherkheulidze V, Melikishvili A, Davitaia T. Tkemaladze T, et al. Georgian Med News. 2017 Jun;(267):100-103. Georgian Med News. 2017. PMID: 28726664
Thus far, dozens of causative genes for ciliopathies have been identified and many of them are known to cause allelic disease. Of particular interest is the TMEM67 gene, encoding the transmembrane protein meckelin. The involvement of the mutant TMEM67 gene is known …
Thus far, dozens of causative genes for ciliopathies have been identified and many of them are known to cause allelic disease. Of particular …
Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis.
Collin GB, Won J, Hicks WL, Cook SA, Nishina PM, Naggert JK. Collin GB, et al. Invest Ophthalmol Vis Sci. 2012 Feb 23;53(2):967-74. doi: 10.1167/iovs.11-8766. Print 2012 Feb. Invest Ophthalmol Vis Sci. 2012. PMID: 22247471 Free PMC article.
Meckelin is a component of ciliary and cell membranes and is encoded by Tmem67 (Mks3). In this study, the retinal morphology and ciliary function in a mouse model for Meckel Syndrome Type 3 (MKS3) throughout the course of photoreceptor developme …
Meckelin is a component of ciliary and cell membranes and is encoded by Tmem67 (Mks3). In this study, the retinal morphology and cili …