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ZFIN ID:
ZDB-GENE-080716-1
CITATIONS
(30 total)
Gene Name:
transmembrane protein 67
Gene Symbol:
tmem67
Adams, M., Simms, R.J., Abdelhamed, Z., Dawe, H.R., Szymanska, K., Logan, C.V., Wheway, G., Pitt, E., Gull, K., Knowles, M.A., Blair, E., Cross, S.H., Sayer, J.A., and Johnson, C.A. (2012) A meckelin-filamin A interaction mediates ciliogenesis. Human molecular genetics. 21(6):1272-1286
Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
Geisler, R., Rauch, G.J., Baier, H., van Bebber, F., Brobeta, L., Dekens, M.P., Finger, K., Fricke, C., Gates, M.A., Geiger, H., Geiger-Rudolph, S., Gilmour, D., Glaser, S., Gnugge, L., Habeck, H., Hingst, K., Holley, S., Keenan, J., Kirn, A., Knaut, H., Lashkari, D., Maderspacher, F., Martyn, U., Neuhauss, S., Neumann, C., Nicolson, T., Pelegri, F., Ray, R., Rick, J.M., Roehl, H., Roeser, T., Schauerte, H.E., Schier, A.F., Schönberger, U., Schönthaler, H.-B., Schulte-Merker, S., Seydler, C., Talbot, W.S., Weiler, C., Nüsslein-Volhard, C., and Haffter, P. (1999) A radiation hybrid map of the zebrafish genome. Nature Genetics. 23(1):86-89
Huang, L., Szymanska, K., Jensen, V.L., Janecke, A.R., Innes, A.M., Davis, E.E., Frosk, P., Li, C., Willer, J.R., Chodirker, B.N., Greenberg, C.R., McLeod, D.R., Bernier, F.P., Chudley, A.E., Müller, T., Shboul, M., Logan, C.V., Loucks, C.M., Beaulieu, C.L., Bowie, R.V., Bell, S.M., Adkins, J., Zuniga, F.I., Ross, K.D., Wang, J., Ban, M.R., Becker, C., Nürnberg, P., Douglas, S., Craft, C.M., Akimenko, M.A., Hegele, R.A., Ober, C., Utermann, G., Bolz, H.J., Bulman, D.E., Katsanis, N., Blacque, O.E., Doherty, D., Parboosingh, J.S., Leroux, M.R., Johnson, C.A., and Boycott, K.M. (2011) TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone. American journal of human genetics. 89(6):713-730
Lee, S.H., Nam, T.S., Li, W., Kim, J.H., Yoon, W., Choi, Y.D., Kim, K.H., Cai, H., Kim, M.J., Kim, C., Choy, H.E., Kim, N., Chay, K.O., Kim, M.K., Choi, S.Y. (2017) Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome. Scientific Reports. 7:10222
Leightner, A.C., Hommerding, C.J., Peng, Y., Salisbury, J.L., Gainullin, V.G., Czarnecki, P.G., Sussman, C.R., and Harris, P.C. (2013) The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. Human molecular genetics. 22(10):2024-2040
Leitch, C.C., Zaghloul, N.A., Davis, E.E., Stoetzel, C., Diaz-Font, A., Rix, S., Al-Fadhel, M., Lewis, R.A., Eyaid, W., Banin, E., Dollfus, H., Beales, P.L., Badano, J.L., and Katsanis, N. (2008) Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nature Genetics. 40(4):443-448
Stayner, C., Poole, C.A., McGlashan, S.R., Pilanthananond, M., Brauning, R., Markie, D., Lett, B., Slobbe, L., Chae, A., Johnstone, A.C., Jensen, C.G., McEwan, J.C., Dittmer, K., Parker, K., Wiles, A., Blackburne, W., Leichter, A., Leask, M., Pinnapureddy, A., Jennings, M., Horsfield, J.A., Walker, R.J., Eccles, M.R. (2017) An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations. Scientific Reports. 7:1601
Tobin, J.L., and Beales, P.L. (2008) Restoration of renal function in zebrafish models of ciliopathies. Pediatric nephrology (Berlin, Germany). 23(11):2095-2099
Tu, J., Yu, S., Li, J., Ren, M., Zhang, Y., Luo, J., Sun, K., Lv, Y., Han, Y., Huang, Y., Ren, X., Jiang, T., Tang, Z., Williams, M.T.S., Lu, Q., Liu, M. (2022) Dhx38 regulates the maintenance and differentiation of erythro-myeloid progenitors and hematopoietic stem cells by alternative splicing. Development (Cambridge, England). 149(17)
Valente, E.M., Logan, C.V., Mougou-Zerelli, S., Lee, J.H., Silhavy, J.L., Brancati, F., Iannicelli, M., Travaglini, L., Romani, S., Illi, B., Adams, M., Szymanska, K., Mazzotta, A., Lee, J.E., Tolentino, J.C., Swistun, D., Salpietro, C.D., Fede, C., Gabriel, S., Russ, C., Cibulskis, K., Sougnez, C., Hildebrandt, F., Otto, E.A., Held, S., Diplas, B.H., Davis, E.E., Mikula, M., Strom, C.M., Ben-Zeev, B., Lev, D., Sagie, T.L., Michelson, M., Yaron, Y., Krause, A., Boltshauser, E., Elkhartoufi, N., Roume, J., Shalev, S., Munnich, A., Saunier, S., Inglehearn, C., Saad, A., Alkindy, A., Thomas, S., Vekemans, M., Dallapiccola, B., Katsanis, N., Johnson, C.A., Attié-Bitach, T., and Gleeson, J.G. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nature Genetics. 42(7):619-625
Wang, J., Thomas, H.R., Thompson, R.G., Waldrep, S.C., Fogerty, J., Song, P., Li, Z., Ma, Y., Santra, P., Hoover, J.D., Yeo, N.C., Drummond, I.A., Yoder, B.K., Amack, J.D., Perkins, B., Parant, J.M. (2022) Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants. Disease models & mechanisms. 15(12):
Xie, H., Kang, Y., Liu, J., Huang, M., Dai, Z., Shi, J., Wang, S., Li, L., Li, Y., Zheng, P., Sun, Y., Han, Q., Zhang, J., Zhu, Z., Xu, L., Yelick, P.C., Cao, M., Zhao, C. (2023) Ependymal polarity defects coupled with disorganized ciliary beating drive abnormal cerebrospinal fluid flow and spine curvature in zebrafish. PLoS Biology. 21:e3002008e3002008
Zhang, M., Cheng, J., Liu, A., Wang, L., Xiong, L., Chen, M., Sun, Y., Li, J., Lu, Y., Yuan, H., Li, Y., Lu, Y. (2015) A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. International journal of clinical and experimental pathology. 8:5379-86
Zhu, P., Qiu, Q., Harris, P.C., Xu, X., Lin, X. (2021)
mtor
Haploinsufficiency Ameliorates Renal Cysts and Cilia Abnormality in Adult Zebrafish
tmem67
Mutants. Journal of the American Society of Nephrology : JASN. 32(4):822-836
Xie, H., Kang, Y., Liu, J., Huang, M., Dai, Z., Shi, J., Wang, S., Li, L., Li, Y., Zheng, P., Sun, Y., Han, Q., Zhang, J., Zhu, Z., Xu, L., Yelick, P.C., Cao, M., Zhao, C. (2023) Ependymal polarity defects coupled with disorganized ciliary beating drive abnormal cerebrospinal fluid flow and spine curvature in zebrafish. PLoS Biology. 21:e3002008e3002008
Tu, J., Yu, S., Li, J., Ren, M., Zhang, Y., Luo, J., Sun, K., Lv, Y., Han, Y., Huang, Y., Ren, X., Jiang, T., Tang, Z., Williams, M.T.S., Lu, Q., Liu, M. (2022) Dhx38 regulates the maintenance and differentiation of erythro-myeloid progenitors and hematopoietic stem cells by alternative splicing. Development (Cambridge, England). 149(17)
Wang, J., Thomas, H.R., Thompson, R.G., Waldrep, S.C., Fogerty, J., Song, P., Li, Z., Ma, Y., Santra, P., Hoover, J.D., Yeo, N.C., Drummond, I.A., Yoder, B.K., Amack, J.D., Perkins, B., Parant, J.M. (2022) Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants. Disease models & mechanisms. 15(12):
Zhu, P., Qiu, Q., Harris, P.C., Xu, X., Lin, X. (2021)
mtor
Haploinsufficiency Ameliorates Renal Cysts and Cilia Abnormality in Adult Zebrafish
tmem67
Mutants. Journal of the American Society of Nephrology : JASN. 32(4):822-836
Lee, S.H., Nam, T.S., Li, W., Kim, J.H., Yoon, W., Choi, Y.D., Kim, K.H., Cai, H., Kim, M.J., Kim, C., Choy, H.E., Kim, N., Chay, K.O., Kim, M.K., Choi, S.Y. (2017) Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome. Scientific Reports. 7:10222
Stayner, C., Poole, C.A., McGlashan, S.R., Pilanthananond, M., Brauning, R., Markie, D., Lett, B., Slobbe, L., Chae, A., Johnstone, A.C., Jensen, C.G., McEwan, J.C., Dittmer, K., Parker, K., Wiles, A., Blackburne, W., Leichter, A., Leask, M., Pinnapureddy, A., Jennings, M., Horsfield, J.A., Walker, R.J., Eccles, M.R. (2017) An ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations. Scientific Reports. 7:1601
Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
Zhang, M., Cheng, J., Liu, A., Wang, L., Xiong, L., Chen, M., Sun, Y., Li, J., Lu, Y., Yuan, H., Li, Y., Lu, Y. (2015) A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. International journal of clinical and experimental pathology. 8:5379-86
Leightner, A.C., Hommerding, C.J., Peng, Y., Salisbury, J.L., Gainullin, V.G., Czarnecki, P.G., Sussman, C.R., and Harris, P.C. (2013) The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. Human molecular genetics. 22(10):2024-2040
Adams, M., Simms, R.J., Abdelhamed, Z., Dawe, H.R., Szymanska, K., Logan, C.V., Wheway, G., Pitt, E., Gull, K., Knowles, M.A., Blair, E., Cross, S.H., Sayer, J.A., and Johnson, C.A. (2012) A meckelin-filamin A interaction mediates ciliogenesis. Human molecular genetics. 21(6):1272-1286
Huang, L., Szymanska, K., Jensen, V.L., Janecke, A.R., Innes, A.M., Davis, E.E., Frosk, P., Li, C., Willer, J.R., Chodirker, B.N., Greenberg, C.R., McLeod, D.R., Bernier, F.P., Chudley, A.E., Müller, T., Shboul, M., Logan, C.V., Loucks, C.M., Beaulieu, C.L., Bowie, R.V., Bell, S.M., Adkins, J., Zuniga, F.I., Ross, K.D., Wang, J., Ban, M.R., Becker, C., Nürnberg, P., Douglas, S., Craft, C.M., Akimenko, M.A., Hegele, R.A., Ober, C., Utermann, G., Bolz, H.J., Bulman, D.E., Katsanis, N., Blacque, O.E., Doherty, D., Parboosingh, J.S., Leroux, M.R., Johnson, C.A., and Boycott, K.M. (2011) TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone. American journal of human genetics. 89(6):713-730
Valente, E.M., Logan, C.V., Mougou-Zerelli, S., Lee, J.H., Silhavy, J.L., Brancati, F., Iannicelli, M., Travaglini, L., Romani, S., Illi, B., Adams, M., Szymanska, K., Mazzotta, A., Lee, J.E., Tolentino, J.C., Swistun, D., Salpietro, C.D., Fede, C., Gabriel, S., Russ, C., Cibulskis, K., Sougnez, C., Hildebrandt, F., Otto, E.A., Held, S., Diplas, B.H., Davis, E.E., Mikula, M., Strom, C.M., Ben-Zeev, B., Lev, D., Sagie, T.L., Michelson, M., Yaron, Y., Krause, A., Boltshauser, E., Elkhartoufi, N., Roume, J., Shalev, S., Munnich, A., Saunier, S., Inglehearn, C., Saad, A., Alkindy, A., Thomas, S., Vekemans, M., Dallapiccola, B., Katsanis, N., Johnson, C.A., Attié-Bitach, T., and Gleeson, J.G. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nature Genetics. 42(7):619-625
Leitch, C.C., Zaghloul, N.A., Davis, E.E., Stoetzel, C., Diaz-Font, A., Rix, S., Al-Fadhel, M., Lewis, R.A., Eyaid, W., Banin, E., Dollfus, H., Beales, P.L., Badano, J.L., and Katsanis, N. (2008) Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nature Genetics. 40(4):443-448
Tobin, J.L., and Beales, P.L. (2008) Restoration of renal function in zebrafish models of ciliopathies. Pediatric nephrology (Berlin, Germany). 23(11):2095-2099
Geisler, R., Rauch, G.J., Baier, H., van Bebber, F., Brobeta, L., Dekens, M.P., Finger, K., Fricke, C., Gates, M.A., Geiger, H., Geiger-Rudolph, S., Gilmour, D., Glaser, S., Gnugge, L., Habeck, H., Hingst, K., Holley, S., Keenan, J., Kirn, A., Knaut, H., Lashkari, D., Maderspacher, F., Martyn, U., Neuhauss, S., Neumann, C., Nicolson, T., Pelegri, F., Ray, R., Rick, J.M., Roehl, H., Roeser, T., Schauerte, H.E., Schier, A.F., Schönberger, U., Schönthaler, H.-B., Schulte-Merker, S., Seydler, C., Talbot, W.S., Weiler, C., Nüsslein-Volhard, C., and Haffter, P. (1999) A radiation hybrid map of the zebrafish genome. Nature Genetics. 23(1):86-89
Additional Citations (15):
Busch-Nentwich, E., Kettleborough, R., Dooley, C. M., Scahill, C., Sealy, I., White, R., Herd, C., Mehroke, S., Wali, N., Carruthers, S., Hall, A., Collins, J., Gibbons, R., Pusztai, Z., Clark, R., and Stemple, D.L. (2013) Sanger Institute Zebrafish Mutation Project mutant data submission. ZFIN Direct Data Submission.
Gaudet, P., Livstone, M., Thomas, P., The Reference Genome Project (2010) Annotation inferences using phylogenetic trees. Automated Data Submission.
ZFIN Staff (2013) Semi-automated association of ENSDARG identifiers with ZFIN genes for the ZMP project. Semi-automated Curation.
ZFIN Staff (2006) Curation of Ensembl Database Links. Automated Data Submission.
ZFIN Staff (2002) Scientific Curation. Manually curated data.
ZFIN Staff (2003) Curation of orthology data. Manually curated data.
ZFIN Staff (2002) Curation of NCBI Gene Data Via Shared RNA Sequence IDs. Automated Data Submission.
ZFIN Staff (2002) Gene Ontology Annotation Through Association of InterPro Records with GO Terms. Automated Data Submission.
ZFIN Staff (2002) Gene Ontology Annotation Through Association of UniProt Keywords with GO Terms. Automated Data Submission.
ZFIN Staff (2007) Microarray Expression to Gene Association in ZFIN. Semi-automated Curation.
ZFIN Staff (2017) Curation of Alliance of Genome Resources Database Links. Automated Data Submission.
ZFIN Staff (2023) Automated Curation of UniProt Database Links. Automated Data Submission.
ZFIN Staff (2017) Curation of PANTHER Gene IDs. Automated Data Submission.
ZFIN Staff (2020) Addition of links from ZFIN to Expression Atlas. Semi-automated Curation.
ZFIN Staff (2003) Curation of VEGA Database Links. Automated Data Submission.
ZFIN Staff (2023) Automated Curation of UniProt Database Links. Automated Data Submission.
ZFIN Staff (2020) Addition of links from ZFIN to Expression Atlas. Semi-automated Curation.
ZFIN Staff (2017) Curation of PANTHER Gene IDs. Automated Data Submission.
ZFIN Staff (2017) Curation of Alliance of Genome Resources Database Links. Automated Data Submission.
Busch-Nentwich, E., Kettleborough, R., Dooley, C. M., Scahill, C., Sealy, I., White, R., Herd, C., Mehroke, S., Wali, N., Carruthers, S., Hall, A., Collins, J., Gibbons, R., Pusztai, Z., Clark, R., and Stemple, D.L. (2013) Sanger Institute Zebrafish Mutation Project mutant data submission. ZFIN Direct Data Submission.
ZFIN Staff (2013) Semi-automated association of ENSDARG identifiers with ZFIN genes for the ZMP project. Semi-automated Curation.
Gaudet, P., Livstone, M., Thomas, P., The Reference Genome Project (2010) Annotation inferences using phylogenetic trees. Automated Data Submission.
ZFIN Staff (2007) Microarray Expression to Gene Association in ZFIN. Semi-automated Curation.
ZFIN Staff (2006) Curation of Ensembl Database Links. Automated Data Submission.
ZFIN Staff (2003) Curation of VEGA Database Links. Automated Data Submission.
ZFIN Staff (2003) Curation of orthology data. Manually curated data.
ZFIN Staff (2002) Gene Ontology Annotation Through Association of UniProt Keywords with GO Terms. Automated Data Submission.
ZFIN Staff (2002) Curation of NCBI Gene Data Via Shared RNA Sequence IDs. Automated Data Submission.
ZFIN Staff (2002) Scientific Curation. Manually curated data.
ZFIN Staff (2002) Gene Ontology Annotation Through Association of InterPro Records with GO Terms. Automated Data Submission.
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