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KATNB1 is a master regulator of multiple katanin enzymes in male meiosis and haploid germ cell development.
Dunleavy JEM, O'Connor AE, Okuda H, Merriner DJ, O'Bryan MK. Dunleavy JEM, et al. Development. 2021 Dec 15;148(24):dev199922. doi: 10.1242/dev.199922. Epub 2021 Dec 15. Development. 2021. PMID: 34822718
Here, we have created an allelic loss-of-function series of the katanin regulatory B-subunit KATNB1 in mice. We reveal that KATNB1 is the master regulator of all katanin enzymatic A-subunits during mammalian spermatogenesis, wherein it is required to maintain katani …
Here, we have created an allelic loss-of-function series of the katanin regulatory B-subunit KATNB1 in mice. We reveal that KATNB1 …
KATNB1 in the human testis and its genetic variants in fertile and oligoasthenoteratozoospermic infertile men.
O'Donnell L, McLachlan RI, Merriner DJ, O'Bryan MK, Jamsai D. O'Donnell L, et al. Andrology. 2014 Nov;2(6):884-91. doi: 10.1111/andr.276. Epub 2014 Oct 3. Andrology. 2014. PMID: 25280067 Free article.
We hypothesized that KATNB1 may play a role in human spermatogenesis and that genetic variants in KATNB1 could be associated with OAT in humans. ...Thirty-seven KATNB1 variants were observed, five of which had not previously been described. ...
We hypothesized that KATNB1 may play a role in human spermatogenesis and that genetic variants in KATNB1 could be associated w …
Mutations in the Katnb1 gene cause left-right asymmetry and heart defects.
Furtado MB, Merriner DJ, Berger S, Rhodes D, Jamsai D, O'Bryan MK. Furtado MB, et al. Dev Dyn. 2017 Dec;246(12):1027-1035. doi: 10.1002/dvdy.24564. Epub 2017 Sep 5. Dev Dyn. 2017. PMID: 28791777 Free article.
KATNB1 protein is expressed in germ cells in humans and mouse, mitotic/meiotic spindles and cilia, although the full expression pattern of the Katnb1 gene has not been described. ...Furthermore, null and hypomorphic Katnb1 gene mutations show a novel correlat …
KATNB1 protein is expressed in germ cells in humans and mouse, mitotic/meiotic spindles and cilia, although the full expression patte …
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C, Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M. Mishra-Gorur K, et al. Neuron. 2014 Dec 17;84(6):1226-39. doi: 10.1016/j.neuron.2014.12.014. Neuron. 2014. PMID: 25521378 Free PMC article.
Loss of KATNB1 orthologs in zebrafish (katnb1) and flies (kat80) results in microcephaly, recapitulating the human phenotype. ...Taken together, we provide insight into the mechanisms by which KATNB1 mutations cause human cerebral cortical malformations, demo …
Loss of KATNB1 orthologs in zebrafish (katnb1) and flies (kat80) results in microcephaly, recapitulating the human phenotype. …
Resolving primary pathomechanisms driving idiopathic-like spinal curvature using a new katnb1 scoliosis model.
Meyer-Miner A, Van Gennip JLM, Henke K, Harris MP, Ciruna B. Meyer-Miner A, et al. iScience. 2022 Aug 28;25(9):105028. doi: 10.1016/j.isci.2022.105028. eCollection 2022 Sep 16. iScience. 2022. PMID: 36105588 Free PMC article.
However, the functional relevance of these observations to IS remains unclear. Here we characterize zebrafish katnb1 mutants as a new IS model. We define essential roles for Katnb1 in motile ciliated lineages, uncouple EC cilia and RF formation defects from spinal c …
However, the functional relevance of these observations to IS remains unclear. Here we characterize zebrafish katnb1 mutants as a new …
A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation.
Yigit G, Wieczorek D, Bögershausen N, Beleggia F, Möller-Hartmann C, Altmüller J, Thiele H, Nürnberg P, Wollnik B. Yigit G, et al. Am J Med Genet A. 2016 Mar;170(3):728-33. doi: 10.1002/ajmg.a.37484. Epub 2015 Dec 6. Am J Med Genet A. 2016. PMID: 26640080
Both effects most likely lead to complete loss of KATNB1 function. Homozygous and compound heterozygous mutations in KATNB1 have very recently been described as a cause of microcephaly with brain malformations and seizures. We extend the KATNB1 associated phe …
Both effects most likely lead to complete loss of KATNB1 function. Homozygous and compound heterozygous mutations in KATNB1 ha …
Expression of katanin p80 in human spermatogenesis.
Pleuger C, Fietz D, Hartmann K, Weidner W, Kliesch S, O'Bryan MK, Dorresteijn A, Bergmann M. Pleuger C, et al. Fertil Steril. 2016 Dec;106(7):1683-1690.e1. doi: 10.1016/j.fertnstert.2016.08.043. Epub 2016 Oct 4. Fertil Steril. 2016. PMID: 27717557 Free article.
OBJECTIVE: To define the stage-by-stage expression of KATNB1 during human spermatogenesis. DESIGN: Gene expression analysis, histologic and immunohistochemical evaluation. ...The KATNB1 protein was detected in type B spermatogonia entering meiosis and in the Golgi c …
OBJECTIVE: To define the stage-by-stage expression of KATNB1 during human spermatogenesis. DESIGN: Gene expression analysis, histolog …
Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors.
Mishra-Gorur K, Çağlayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgümüş GT, Nishimura S, Han W, Tu S, Baran B, Gümüş H, Dilber C, Zaki MS, Hossni HAA, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çağlar C, Çağlar Ç, Dölen D, Baranoski JF, Kumandaş S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Šestan N, Louvi A, Bilgüvar K, Yasuno K, Gleeson JG, Günel M. Mishra-Gorur K, et al. Neuron. 2015 Jan 7;85(1):228. doi: 10.1016/j.neuron.2014.12.046. Epub 2015 Jan 7. Neuron. 2015. PMID: 29654772 Free article. No abstract available.
Haplotype-GGGT in long non-coding RNA MALAT1 inhibits brain metastatic lung cancer and lymph nodes of lung cancer via the MALAT1/miR-328/KATNB1.
Liu T, Ma J, Hou D, Wang W, Cao H. Liu T, et al. Aging (Albany NY). 2023 Mar 2;15(6):1918-1930. doi: 10.18632/aging.204563. Epub 2023 Mar 2. Aging (Albany NY). 2023. PMID: 36934373 Free PMC article.
Decreased lymph node size and tumor size of brain metastatic lung were observed in patients with GGGT genotype of MALAT1. The luciferase activities of MALAT1 and KATNB1 were remarkably suppressed by miR-328 in A549 and H460. And the down-regulation of MALAT1 or up-regulati …
Decreased lymph node size and tumor size of brain metastatic lung were observed in patients with GGGT genotype of MALAT1. The luciferase act …
Katanin-p80 gene promoter characterization and regulation via Elk1.
Selçuk E, Kırımtay K, Canbaz D, Cesur GI, Korulu S, Karabay A. Selçuk E, et al. PLoS One. 2013 Jul 24;8(7):e69423. doi: 10.1371/journal.pone.0069423. Print 2013. PLoS One. 2013. PMID: 23894477 Free PMC article.
We identified a 518- bp TATA-less promoter including a critical CpG island and GC boxes as an optimal promoter, and sequential deletion of CpG island and the GC elements gradually decreased the KATNB1 promoter activity. In addition, we showed Elk1 binding on the KATNB1 …
We identified a 518- bp TATA-less promoter including a critical CpG island and GC boxes as an optimal promoter, and sequential deletion of C …
35 results