| Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish. | Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish.
Terhune EA, Cuevas MT, Monley AM, Wethey CI, Chen X, Cattell MV, Bayrak MN, Bland MR, Sutphin B, Trahan GD, Taylor MRG, Niswander LA, Jones KL, Baschal EE, Antunes L, Dobbs M, Gurnett C, Appel B, Gray R, Hadley Miller N., Free PMC Article | 04/9/2022 |
| Sequences in the stalk domain regulate auto-inhibition and ciliary tip localization of the immotile kinesin-4 KIF7. | Sequences in the stalk domain regulate auto-inhibition and ciliary tip localization of the immotile kinesin-4 KIF7.
Blasius TL, Yue Y, Prasad R, Liu X, Gennerich A, Verhey KJ., Free PMC Article | 09/18/2021 |
| Human papillomavirus 16 (HPV 16) E6 but not E7 inhibits the antitumor activity of LKB1 in lung cancer cells by downregulating the expression of KIF7. | Human papillomavirus 16 (HPV 16) E6 but not E7 inhibits the antitumor activity of LKB1 in lung cancer cells by downregulating the expression of KIF7.
Hu Y, Wu MZ, Gu NJ, Xu HT, Li QC, Wu GP., Free PMC Article | 08/7/2021 |
| Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review. | Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.
Niceta M, Dentici ML, Ciolfi A, Marini R, Barresi S, Lepri FR, Novelli A, Bertini E, Cappa M, Digilio MC, Dallapiccola B, Tartaglia M., Free PMC Article | 02/27/2021 |
| Identification of novel candidate genes in heterotaxy syndrome patients with congenital heart diseases by whole exome sequencing. | Identification of novel candidate genes in heterotaxy syndrome patients with congenital heart diseases by whole exome sequencing.
Liang S, Shi X, Yu C, Shao X, Zhou H, Li X, Chang C, Lai KS, Ma J, Zhang R. | 01/23/2021 |
| The expression of KIF7 was lower in cancer tissues than in paratumor tissues, and KIF7 expression was associated with recurrence-free survival and overall survival in epithelial ovarian cancer patients. | Low expression of KIF7 indicates poor prognosis in epithelial ovarian cancer.
Yao Y, Liu L, He W, Lin X, Zhang X, Lin Z, Zeng Z, Guo S. | 06/13/2020 |
| two children who both had two missense mutations in the Kinesin Family Member 7 (KIF7) gene, are reported. | Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.
Tunovic S, Barañano KW, Barkovich JA, Strober JB, Jamal L, Slavotinek AM. | 09/3/2016 |
| Kif7 may contribute to pathogenesis of gestational trophoblastic disease through enhancing survival and promoting dissemination of trophoblasts. | Downregulation of the gli transcription factors regulator Kif7 facilitates cell survival and migration of choriocarcinoma cells.
Ho J, Du Y, Wong OG, Siu MK, Chan KK, Cheung AN., Free PMC Article | 11/21/2015 |
| We identified a Turkish family who had a novel homozygous sequence change, c.2593-2A>C, located at the acceptor splice site of intron 12 of KIF7 (IVS12-2A>C). | A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.
Karaer K, Yuksel Z, Ichkou A, Calisir C, Attié-Bitach T. | 11/21/2015 |
| results suggested that PPFIA1 functioned with PP2A to promote the dephosphorylation of Kif7, triggering Kif7 localization to the tips of primary cilia and promoting Gli transcriptional activity. | The PPFIA1-PP2A protein complex promotes trafficking of Kif7 to the ciliary tip and Hedgehog signaling.
Liu YC, Couzens AL, Deshwar AR, B McBroom-Cerajewski LD, Zhang X, Puviindran V, Scott IC, Gingras AC, Hui CC, Angers S. | 08/15/2015 |
| Studied the ExoS to identify unknown cellular targets associated with ExoS-induced cytotoxicity in a P. aeruginosa infection model.A pull-down assay revealed that ExoS bound the truncated KIF7 gene encoding the N-terminal domain (residues 1-109) of KIF7. | ExoS of Pseudomonas aeruginosa binds to a human KIF7 to induce cytotoxicity in cultured human bronchial epithelial cells.
Okuda J, Hanabusa A, Gotoh N. | 11/22/2014 |
| six novel mutations were identified at the KIF7 locus in five suspected Acrocallosal syndrome cases | Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
Putoux A, Nampoothiri S, Laurent N, Cormier-Daire V, Beales PL, Schinzel A, Bartholdi D, Alby C, Thomas S, Elkhartoufi N, Ichkou A, Litzler J, Munnich A, Encha-Razavi F, Kannan R, Faivre L, Boddaert N, Rauch A, Vekemans M, Attié-Bitach T. | 07/6/2013 |
| This study confirms that KIF7 mutations can cause acrocallosal syndrome. | Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.
Walsh DM, Shalev SA, Simpson MA, Morgan NV, Gelman-Kohan Z, Chemke J, Trembath RC, Maher ER. | 06/15/2013 |
| report the first missense homozygous disease-causing mutation in KIF7 and expand the clinical spectrum associated with mutations in this gene to include multiple epiphyseal dysplasia | A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.
Ali BR, Silhavy JL, Akawi NA, Gleeson JG, Al-Gazali L., Free PMC Article | 04/13/2013 |
| The high-resolution structure of the human KIF7 motor domain is reported and is compared with that of conventional kinesin, the founding member of the kinesin superfamily. | Structural insights into human Kif7, a kinesin involved in Hedgehog signalling.
Klejnot M, Kozielski F., Free PMC Article | 05/5/2012 |
| Data report mutations in the KIF7 gene, a known regulator of sonic hedgehog signaling and a putative ciliary motor protein, in Joubert syndrome patients. | Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nürnberg G, Nürnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ., Free PMC Article | 10/15/2011 |
| Our data show the role of KIF7 in human primary cilia, especially in the Hedgehog pathway through the regulation of GLI targets, and expand the clinical spectrum of ciliopathies. | KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joyé N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attié-Bitach T., Free PMC Article | 07/30/2011 |