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For: Isrie M, Breuss M, Tian G, Hansen AH, Cristofoli F, Morandell J, Kupchinsky ZA, Sifrim A, Rodriguez-Rodriguez CM, Dapena EP, Doonanco K, Leonard N, Tinsa F, Moortgat S, Ulucan H, Koparir E, Karaca E, Katsanis N, Marton V, Vermeesch JR, Davis EE, Cowan NJ, Keays DA, Van Esch H. Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. Am J Hum Genet 2015;97:790-800. [PMID: 26637975 DOI: 10.1016/j.ajhg.2015.10.014] [Cited by in Crossref: 45] [Cited by in F6Publishing: 40] [Article Influence: 6.4] [Reference Citation Analysis]
Number Citing Articles
1 Frosk P, Arts HH, Philippe J, Gunn CS, Brown EL, Chodirker B, Simard L, Majewski J, Fahiminiya S, Russell C, Liu YP, Hegele R, Katsanis N, Goerz C, Del Bigio MR, Davis EE; FORGE Canada Consortium., Canadian Rare Diseases: Models & Mechanisms Network,. A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis. J Med Genet 2017;54:490-501. [PMID: 28264986 DOI: 10.1136/jmedgenet-2016-104296] [Cited by in Crossref: 30] [Cited by in F6Publishing: 25] [Article Influence: 6.0] [Reference Citation Analysis]
2 Harding P, Moosajee M. The Molecular Basis of Human Anophthalmia and Microphthalmia. J Dev Biol 2019;7:E16. [PMID: 31416264 DOI: 10.3390/jdb7030016] [Cited by in Crossref: 20] [Cited by in F6Publishing: 13] [Article Influence: 6.7] [Reference Citation Analysis]
3 Ansar M, Ullah F, Paracha SA, Adams DJ, Lai A, Pais L, Iwaszkiewicz J, Millan F, Sarwar MT, Agha Z, Shah SF, Qaisar AA, Falconnet E, Zoete V, Ranza E, Makrythanasis P, Santoni FA, Ahmed J, Katsanis N, Walsh C, Davis EE, Antonarakis SE. Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features. Am J Hum Genet 2019;104:1073-87. [PMID: 31079899 DOI: 10.1016/j.ajhg.2019.04.002] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 3.3] [Reference Citation Analysis]
4 Tao F, Beecham GW, Rebelo AP, Blanton SH, Moran JJ, Lopez-Anido C, Svaren J, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium. Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study. J Neuromuscul Dis 2019;6:201-11. [PMID: 30958311 DOI: 10.3233/JND-190377] [Cited by in Crossref: 8] [Cited by in F6Publishing: 5] [Article Influence: 2.7] [Reference Citation Analysis]
5 Latypova X, Vincent M, Mollé A, Adebambo OA, Fourgeux C, Khan TN, Caro A, Rosello M, Orellana C, Niyazov D, Lederer D, Deprez M, Capri Y, Kannu P, Tabet AC, Levy J, Aten E, den Hollander N, Splitt M, Walia J, Immken LL, Stankiewicz P, McWalter K, Suchy S, Louie RJ, Bell S, Stevenson RE, Rousseau J, Willem C, Retiere C, Yang XJ, Campeau PM, Martinez F, Rosenfeld JA, Le Caignec C, Küry S, Mercier S, Moradkhani K, Conrad S, Besnard T, Cogné B, Katsanis N, Bézieau S, Poschmann J, Davis EE, Isidor B. Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder. Am J Hum Genet 2021;108:929-41. [PMID: 33811806 DOI: 10.1016/j.ajhg.2021.03.017] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
6 Dentici M, Terracciano A, Bellacchio E, Capolino R, Novelli A, Digilio M, Dallapiccola B. Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene. Clinical Genetics 2018;93:1223-8. [DOI: 10.1111/cge.13232] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
7 Li D, Shen KM, Zackai EH, Bhoj EJ. Clinical variability of TUBB-associated disorders: Diagnosis through reanalysis. Am J Med Genet A 2020;182:3035-9. [PMID: 33016642 DOI: 10.1002/ajmg.a.61897] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
8 Sferra A, Petrini S, Bellacchio E, Nicita F, Scibelli F, Dentici ML, Alfieri P, Cestra G, Bertini ES, Zanni G. TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics. Int J Mol Sci 2020;21:E1385. [PMID: 32085672 DOI: 10.3390/ijms21041385] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 2.5] [Reference Citation Analysis]
9 Ufartes R, Berger H, Till K, Salinas G, Sturm M, Altmüller J, Nürnberg P, Thiele H, Funke R, Apeshiotis N, Langen H, Wollnik B, Borchers A, Pauli S. De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome. Hum Genet 2020;139:1363-79. [PMID: 32424618 DOI: 10.1007/s00439-020-02175-x] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
10 Kuil LE, MacKenzie KC, Tang CS, Windster JD, Le TL, Karim A, de Graaf BM, van der Helm R, van Bever Y, Sloots CEJ, Meeussen C, Tibboel D, de Klein A, Wijnen RMH, Amiel J, Lyonnet S, Garcia-Barcelo MM, Tam PKH, Alves MM, Brooks AS, Hofstra RMW, Brosens E. Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development. PLoS Genet 2021;17:e1009698. [PMID: 34358225 DOI: 10.1371/journal.pgen.1009698] [Reference Citation Analysis]
11 Boissel S, Fallet-Bianco C, Chitayat D, Kremer V, Nassif C, Rypens F, Delrue MA, Dal Soglio D, Oligny LL, Patey N, Flori E, Cloutier M, Dyment D, Campeau P, Karalis A, Nizard S, Fraser WD, Audibert F, Lemyre E, Rouleau GA, Hamdan FF, Kibar Z, Michaud JL. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. Genet Med 2018;20:745-53. [PMID: 29261186 DOI: 10.1038/gim.2017.173] [Cited by in Crossref: 34] [Cited by in F6Publishing: 26] [Article Influence: 6.8] [Reference Citation Analysis]
12 Roth D, Fitton BP, Chmel NP, Wasiluk N, Straube A. Spatial positioning of EB family proteins at microtubule tips involves distinct nucleotide-dependent binding properties. J Cell Sci 2018;132:jcs219550. [PMID: 30262468 DOI: 10.1242/jcs.219550] [Cited by in Crossref: 17] [Cited by in F6Publishing: 15] [Article Influence: 4.3] [Reference Citation Analysis]
13 Feng J, Lan X, Shen J, Song X, Tang X, Xu W, Ren X, Zhang H, Yu G, Wu S. A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2. Mol Genet Genomic Med 2020;8:e1096. [PMID: 31903734 DOI: 10.1002/mgg3.1096] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
14 Reis LM, Basel D, McCarrier J, Weinberg DV, Semina EV. Compound heterozygous splicing CDON variants result in isolated ocular coloboma. Clin Genet 2020;98:486-92. [PMID: 32729136 DOI: 10.1111/cge.13824] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
15 Knossow M, Campanacci V, Khodja LA, Gigant B. The Mechanism of Tubulin Assembly into Microtubules: Insights from Structural Studies. iScience 2020;23:101511. [PMID: 32920486 DOI: 10.1016/j.isci.2020.101511] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 3.5] [Reference Citation Analysis]
16 Du W, Bhojwani A, Hu JK. FACEts of mechanical regulation in the morphogenesis of craniofacial structures. Int J Oral Sci 2021;13:4. [PMID: 33547271 DOI: 10.1038/s41368-020-00110-4] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
17 Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Hoyer J, Zweier C, Reis A, Bacino CA, Xiao R, Breman AM, Smith JL, Katsanis N, Bostwick B, Popp B, Davis EE, Yang Y; Deciphering Developmental Disorders Study. Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet 2017;101:503-15. [PMID: 28942966 DOI: 10.1016/j.ajhg.2017.08.014] [Cited by in Crossref: 42] [Cited by in F6Publishing: 36] [Article Influence: 8.4] [Reference Citation Analysis]
18 Romaniello R, Arrigoni F, Fry AE, Bassi MT, Rees MI, Borgatti R, Pilz DT, Cushion TD. Tubulin genes and malformations of cortical development. Eur J Med Genet 2018;61:744-54. [PMID: 30016746 DOI: 10.1016/j.ejmg.2018.07.012] [Cited by in Crossref: 43] [Cited by in F6Publishing: 37] [Article Influence: 10.8] [Reference Citation Analysis]
19 Ta-Shma A, Khan TN, Vivante A, Willer JR, Matak P, Jalas C, Pode-Shakked B, Salem Y, Anikster Y, Hildebrandt F, Katsanis N, Elpeleg O, Davis EE. Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome. Am J Hum Genet 2017;100:666-75. [PMID: 28318500 DOI: 10.1016/j.ajhg.2017.02.007] [Cited by in Crossref: 13] [Cited by in F6Publishing: 11] [Article Influence: 2.6] [Reference Citation Analysis]
20 Thues C, Valadas JS, Deaulmerie L, Geens A, Chouhan AK, Duran-Romaña R, Schymkowitz J, Rousseau F, Bartusel M, Rehimi R, Rada-Iglesias A, Verstreken P, Van Esch H. MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome. Sci Rep 2021;11:4976. [PMID: 33654163 DOI: 10.1038/s41598-021-83771-3] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
21 Ayukawa R, Iwata S, Imai H, Kamimura S, Hayashi M, Ngo KX, Minoura I, Uchimura S, Makino T, Shirouzu M, Shigematsu H, Sekimoto K, Gigant B, Muto E. GTP-dependent formation of straight tubulin oligomers leads to microtubule nucleation. J Cell Biol 2021;220:e202007033. [PMID: 33544140 DOI: 10.1083/jcb.202007033] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 5.0] [Reference Citation Analysis]
22 Galano-Frutos JJ, García-Cebollada H, Sancho J. Molecular dynamics simulations for genetic interpretation in protein coding regions: where we are, where to go and when. Brief Bioinform 2021;22:3-19. [PMID: 31813950 DOI: 10.1093/bib/bbz146] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
23 Hayashi M, Wataya-Kaneda M, Koguchi-Yoshioka H, Arase N, Kubo T, Nakano H, Fujimoto M. Familial Michelin tire baby syndrome. J Dermatol 2022. [PMID: 35277884 DOI: 10.1111/1346-8138.16346] [Reference Citation Analysis]
24 Berkun L, Slae M, Mor-Shaked H, Koplewitz B, Eventov-Friedman S, Harel T. Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis. Am J Med Genet A 2019;179:2454-8. [PMID: 31502381 DOI: 10.1002/ajmg.a.61355] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
25 Breuss MW, Leca I, Gstrein T, Hansen AH, Keays DA. Tubulins and brain development - The origins of functional specification. Mol Cell Neurosci 2017;84:58-67. [PMID: 28347630 DOI: 10.1016/j.mcn.2017.03.002] [Cited by in Crossref: 32] [Cited by in F6Publishing: 30] [Article Influence: 6.4] [Reference Citation Analysis]
26 Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet 2019;393:747-57. [PMID: 30712880 DOI: 10.1016/S0140-6736(18)31940-8] [Cited by in Crossref: 182] [Cited by in F6Publishing: 62] [Article Influence: 60.7] [Reference Citation Analysis]
27 Madrigal I, Rabionet R, Alvarez-Mora MI, Sanchez A, Rodríguez-Revenga L, Estivill X, Mila M. Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations. Gene 2019;695:12-7. [PMID: 30738969 DOI: 10.1016/j.gene.2019.02.002] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.7] [Reference Citation Analysis]
28 Qiu Y, Arbogast T, Lorenzo SM, Li H, Tang SC, Richardson E, Hong O, Cho S, Shanta O, Pang T, Corsello C, Deutsch CK, Chevalier C, Davis EE, Iakoucheva LM, Herault Y, Katsanis N, Messer K, Sebat J. Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development. Cell Rep 2019;28:3320-3328.e4. [PMID: 31553903 DOI: 10.1016/j.celrep.2019.08.071] [Cited by in Crossref: 16] [Cited by in F6Publishing: 10] [Article Influence: 8.0] [Reference Citation Analysis]
29 Breuss MW, Nguyen T, Srivatsan A, Leca I, Tian G, Fritz T, Hansen AH, Musaev D, McEvoy-Venneri J, James KN, Rosti RO, Scott E, Tan U, Kolodner RD, Cowan NJ, Keays DA, Gleeson JG. Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability. Hum Mol Genet 2017;26:258-69. [PMID: 28013290 DOI: 10.1093/hmg/ddw383] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.2] [Reference Citation Analysis]
30 Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet 2017;49:238-48. [PMID: 28067909 DOI: 10.1038/ng.3743] [Cited by in Crossref: 86] [Cited by in F6Publishing: 71] [Article Influence: 17.2] [Reference Citation Analysis]
31 Lee TL, Lin PH, Chen PL, Hong JB, Wu CC. Hereditary Hearing Impairment with Cutaneous Abnormalities. Genes (Basel) 2020;12:43. [PMID: 33396879 DOI: 10.3390/genes12010043] [Reference Citation Analysis]
32 Cody JD. The Consequences of Abnormal Gene Dosage: Lessons from Chromosome 18. Trends Genet 2020;36:764-76. [PMID: 32660784 DOI: 10.1016/j.tig.2020.06.006] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
33 Hutson MR, Keyte AL, Hernández-Morales M, Gibbs E, Kupchinsky ZA, Argyridis I, Erwin KN, Pegram K, Kneifel M, Rosenberg PB, Matak P, Xie L, Grandl J, Davis EE, Katsanis N, Liu C, Benner EJ. Temperature-activated ion channels in neural crest cells confer maternal fever-associated birth defects. Sci Signal 2017;10:eaal4055. [PMID: 29018170 DOI: 10.1126/scisignal.aal4055] [Cited by in Crossref: 32] [Cited by in F6Publishing: 27] [Article Influence: 6.4] [Reference Citation Analysis]
34 Nsamba ET, Gupta ML. Tubulin isotypes - functional insights from model organisms. J Cell Sci 2022;135:jcs259539. [PMID: 35522156 DOI: 10.1242/jcs.259539] [Reference Citation Analysis]
35 Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceño I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, Stessman HAF, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet 2017;100:352-63. [PMID: 28132691 DOI: 10.1016/j.ajhg.2017.01.003] [Cited by in Crossref: 48] [Cited by in F6Publishing: 41] [Article Influence: 9.6] [Reference Citation Analysis]
36 Minoura I. Towards an understanding of the isotype-specific functions of tubulin in neurons: Technical advances in tubulin expression and purification. Neurosci Res 2017;122:1-8. [PMID: 28412269 DOI: 10.1016/j.neures.2017.04.002] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 1.6] [Reference Citation Analysis]
37 Duncan KM, Mukherjee K, Cornell RA, Liao EC. Zebrafish models of orofacial clefts. Dev Dyn 2017;246:897-914. [PMID: 28795449 DOI: 10.1002/dvdy.24566] [Cited by in Crossref: 26] [Cited by in F6Publishing: 23] [Article Influence: 5.2] [Reference Citation Analysis]
38 Sferra A, Nicita F, Bertini E. Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases. Int J Mol Sci 2020;21:E7354. [PMID: 33027950 DOI: 10.3390/ijms21197354] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 4.5] [Reference Citation Analysis]
39 Watanabe K, Nakashima M, Kumada S, Mashimo H, Enokizono M, Yamada K, Kato M, Saitsu H. Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review. J Hum Genet 2021. [PMID: 34211110 DOI: 10.1038/s10038-021-00956-4] [Reference Citation Analysis]
40 Breuss MW, Hansen AH, Landler L, Keays DA. Brain-specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition. Behav Brain Res 2017;323:47-55. [PMID: 28130172 DOI: 10.1016/j.bbr.2017.01.029] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]