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Page 1
Bone marrow transplantation as a therapy for autosomal dominant osteopetrosis type 2 in mice.
Alam I, Gerard-O'Riley RL, Acton D, Hardman SL, Murphy M, Alvarez MB, Blosser RJ, Sinn A, Srour EF, Kacena MA, Econs MJ. Alam I, et al. FASEB J. 2022 Sep;36(9):e22471. doi: 10.1096/fj.202200678R. FASEB J. 2022. PMID: 35959867 Free PMC article.
Autosomal dominant osteopetrosis type II (ADO2) is a heritable bone disease of impaired osteoclastic bone resorption caused by missense mutations in the chloride channel 7 (CLCN7) gene. Clinical features of ADO2 include fractures, osteomyelitis of jaw, vision loss, and in …
Autosomal dominant osteopetrosis type II (ADO2) is a heritable bone disease of impaired osteoclastic bone resorption caused by missense muta …
Lysosomal Degradation Is Required for Sustained Phagocytosis of Bacteria by Macrophages.
Wong CO, Gregory S, Hu H, Chao Y, Sepúlveda VE, He Y, Li-Kroeger D, Goldman WE, Bellen HJ, Venkatachalam K. Wong CO, et al. Cell Host Microbe. 2017 Jun 14;21(6):719-730.e6. doi: 10.1016/j.chom.2017.05.002. Epub 2017 Jun 1. Cell Host Microbe. 2017. PMID: 28579255 Free PMC article.
In Drosophila and mammalian macrophages, lysosomal dysfunction due to loss of the endolysosomal Cl(-) transporter ClC-b/CLCN7 delayed degradation of internalized bacteria. Unexpectedly, defective lysosomal degradation of bacteria also attenuated further phagocytosis, resul …
In Drosophila and mammalian macrophages, lysosomal dysfunction due to loss of the endolysosomal Cl(-) transporter ClC-b/CLCN7 delayed …
A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation.
Kang S, Kang YK, Lee JA, Kim DH, Lim JS. Kang S, et al. J Clin Res Pediatr Endocrinol. 2019 Nov 22;11(4):439-443. doi: 10.4274/jcrpe.galenos.2019.2018.0229. Epub 2019 Feb 14. J Clin Res Pediatr Endocrinol. 2019. PMID: 30759959 Free PMC article.
Here, we report a typical case of osteopetrosis in a 17.7-year-old male who carries a heterozygous c.746C>T mutation in exon 9 in the chloride voltage-gated channel 7 (CLCN7) gene. The patient's spine showed multiple sclerotic changes including sandwich vertebra. ...
Here, we report a typical case of osteopetrosis in a 17.7-year-old male who carries a heterozygous c.746C>T mutation in exon 9 in the chl …
Systematic validation of hypothesis-driven candidate genes for cervical cancer in a genome-wide association study.
Johanneson B, Chen D, Enroth S, Cui T, Gyllensten U. Johanneson B, et al. Carcinogenesis. 2014 Sep;35(9):2084-8. doi: 10.1093/carcin/bgu125. Epub 2014 May 30. Carcinogenesis. 2014. PMID: 24879636
A large number of genetic associations with cervical cancer have been reported in hypothesis-driven candidate gene studies, but most studies have not included an independent replication or the results have been inconsistent between studies. In order to independently valida …
A large number of genetic associations with cervical cancer have been reported in hypothesis-driven candidate gene studies, but most …
B-cell non-Hodgkin lymphoma: Selective vulnerability to PIKFYVE inhibition.
Gayle S, Landrette S, Beeharry N, Conrad C, Hernandez M, Beckett P, Ferguson SM, Xu T, Rothberg J, Lichenstein H. Gayle S, et al. Autophagy. 2017 Jun 3;13(6):1082-1083. doi: 10.1080/15548627.2017.1304871. Epub 2017 Mar 28. Autophagy. 2017. PMID: 28350209 Free PMC article.
Furthermore, through genome-wide CRISPR knockout screening, we identified specific lysosomal genes (TFEB, CLCN7, OSTM1 and SNX10) as critical determinants of apilimod-induced cytotoxicity. Together these data highlight disruption of lysosome homeostasis through PIKFYVE inh …
Furthermore, through genome-wide CRISPR knockout screening, we identified specific lysosomal genes (TFEB, CLCN7, OSTM1 and SNX10) as …
Clinical presentation and analysis of genotype-phenotype correlations in patients with malignant infantile osteopetrosis.
Even-Or E, Schiesel G, Simanovsky N, NaserEddin A, Zaidman I, Elpeleg O, Mor-Shaked H, Stepensky P. Even-Or E, et al. Bone. 2022 Jan;154:116229. doi: 10.1016/j.bone.2021.116229. Epub 2021 Oct 8. Bone. 2022. PMID: 34624559
The most common genetic mutation was in the TCIRG1 gene (n = 46, 56.8%), followed by SNX10 (n = 20, 25%). Other genetic mutations included RANK (n = 7, 8.7%), CLCN7 (n = 5, 6.2%) and CA2 (n = 3, 3.7%). More than half of the patients presented with growth retardation (n = 4 …
The most common genetic mutation was in the TCIRG1 gene (n = 46, 56.8%), followed by SNX10 (n = 20, 25%). Other genetic mutations included R …
Stem cell transplantation for osteopetrosis in patients beyond the age of 5 years.
Stepensky P, Grisariu S, Avni B, Zaidman I, Shadur B, Elpeleg O, Sirin M, Hoenig M, Schuetz C, Furlan I, Beer M, von Harsdorf S, Bunjes D, Debatin KM, Schulz AS. Stepensky P, et al. Blood Adv. 2019 Mar 26;3(6):862-868. doi: 10.1182/bloodadvances.2018025890. Blood Adv. 2019. PMID: 30885997 Free PMC article.
Here we present data from 7 patients with intermediate OP caused by mutations in TCIRG1 (n = 2), CLCN7 (n = 2), RANK (n = 1), SNX10 (n = 1), and CA2 (n = 1), who were transplanted between the ages of 5 to 30 years (mean, 15; median, 12). ...
Here we present data from 7 patients with intermediate OP caused by mutations in TCIRG1 (n = 2), CLCN7 (n = 2), RANK (n = 1), SNX10 ( …
Identification of apilimod as a first-in-class PIKfyve kinase inhibitor for treatment of B-cell non-Hodgkin lymphoma.
Gayle S, Landrette S, Beeharry N, Conrad C, Hernandez M, Beckett P, Ferguson SM, Mandelkern T, Zheng M, Xu T, Rothberg J, Lichenstein H. Gayle S, et al. Blood. 2017 Mar 30;129(13):1768-1778. doi: 10.1182/blood-2016-09-736892. Epub 2017 Jan 19. Blood. 2017. PMID: 28104689 Free PMC article.
In the screen, TFEB (master transcriptional regulator of lysosomal biogenesis) and endosomal/lysosomal genes CLCN7, OSTM1, and SNX10 were identified as important determinants of apilimod sensitivity. ...
In the screen, TFEB (master transcriptional regulator of lysosomal biogenesis) and endosomal/lysosomal genes CLCN7, OSTM1, and SNX10 …
Genotyping, generation and proteomic profiling of the first human autosomal dominant osteopetrosis type II-specific induced pluripotent stem cells.
Ou M, Li C, Tang D, Xue W, Xu Y, Zhu P, Li B, Xie J, Chen J, Sui W, Yin L, Dai Y. Ou M, et al. Stem Cell Res Ther. 2019 Aug 14;10(1):251. doi: 10.1186/s13287-019-1369-8. Stem Cell Res Ther. 2019. PMID: 31412925 Free PMC article.
RESULTS: WES with filtering strategies identified a mutation in CLCN7 (R286W) in the proband and his father, which was absent in the proband's mother and the healthy controls; this was confirmed by Sanger sequencing. The ADO2-iPSCs were successfully generated, which carrie …
RESULTS: WES with filtering strategies identified a mutation in CLCN7 (R286W) in the proband and his father, which was absent in the …
16 results