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References


Publications

Boeckel, JN., et. al. (2015) Identification and Characterization of Hypoxia-Regulated Endothelial Circular RNA Circulation Research 117(10): 884-90

Bourke, LM, et. al. (2017) Loss of Rearranged L-Myc Fusion (RLF) results in defects in heart development in the mouse Differentiation 94; 8-20

Cassa, CA, et. al. (2017) Estimating the selective effects of heterozygous protein-truncating variants from human exome data Nature Genetics 49: 806–810.

Cao,Y., et. al. (2018) Pan-cancer analysis of somatic mutations across 21 neuroendocrine tumor types. Cell Research 28:601-604

Coe, B.P. et. al. (2019) Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity Nature Genetics 51; 106–116

Corrigan, NM et. al. (2013) Atypical Developmental Patterns of Brain Chemistry in Children with Autism Spectrum Disorder. JAMA Psychiatry 70(9): 964-974.

Daxinger, L, et. al. (2013) An ENU mutagenesis screen identifies novel and known genes involved in epigenetic processes in the mouse Genome Biology 14:R96

Deciphering Developmental Disorders Study (2017) Prevalence and architecture of de novo mutations in developmental disorders Nature 542: 433-438

Ellsworth, BS and Stallings, CE (2018) Molecular Mechanisms Governing Embryonic Differentiation of Pituitary Somatotropes. Trends in endocrinology and metabolism 29;7: 510-523.

Engwerda, A. et. al. (2018) The phenotypic spectrum of proximal 6q deletions on a large cohort from social media and literature reports European Journal of Human Genetics Jun 8. doi: 10.1038/s41431-018-0172-9. [Epub ahead of print]

Flynn, MP et. al. (2006) Growth hormone transcription factor ZN-16 genomic coding regions are composed of a single exon and are evolutionarily conserved in mammals. Gene. 2006 Mar 1;368:78-83. Epub 2005 Nov 21.

Force, WR and Spindler SR (1994) 3,5,3’-L-Triiodothyronine (Thyroid Hormone)-induced Protein-DNA Interactions in the Thyroid Hormone Response Elements and Cell Type-specific Elements of Rat Growth Hormone Gene Revealed by in Vivo Dimethyl Sulfate Footprinting. The Journal of Biological Chemistry 269;13:9682-9686.

Gautier R. et. al. (2008) HELIQUEST: a web server to screen sequences with specific α-helical properties. Bioinformatics 24(18):2101-2.

Guo, C et. al. (2018) Long noncoding RNA lncKdm2b: A critical player in the maintenance of group 3 innate lymphoid cells. Cellular and Molecular Imunology 15, 5-7.

Harten, SK, et. al. (2015) The recently identified modifier of murine metastable epialleles, Rearranged L-Myc Fusion, is involved in maintaining epigenetic marks at CpG island shores and enhancers BMC Biology 201513:21 26 March 2015

Harvey, CB and Williams, GR (2002) Mechanism of Thyroid Hormone Action. Thyroid. 12;6:441-446.

Hein, MY et. al. (2015) A Human Interactome in Three Quantitative Dimensions Organized by Stoichiometries and Abundances Cell 163(3): 712-23

Hauri S et. al.(2016) A High-Density Map for Navigating the Human Polycomb Complexome. Cell Rep 17(2): 583-595

Iossifov, I. et. al. (2015) Low load for disruptive mutations in autism genes and their biased transmission Proc Natl Acad Sci U S A 2015 Oct 13;112(41)

Jacobson, EM et. al. (1997) Structure of Pit-1 POU domain bound to DNA as dimer: unexpected arrangement and flexibility. Genes and Development 11:198-212.

Ji, Q., et. al. (2018) Circular RNAs function as competing endogenous RNAs in multiple types of cancer Oncology Letters 15(1):23-30

Kim SW, et. al. (1996) In Vivo Genomic Footprinting of Thyroid Hormone-Responsive Genes in Pituitary Tumor Cell Lines. Molecular and Cellular Biology, Aug;16(6):4465-4477.

Kluth, M. et. al. (2017) Deletion lengthening at chromosomes 6q and 16q targets multiple tumor suppressor genes and is associated with an increasingly poor prognosis in prostate cancer. Oncotarget 8(65):108923-108935.

Krumm, N. et. al. (2014) A de novo convergence of autism genetics and molecular neuroscience Trends in Neuroscience 37;2 95-105 + Supplement

Lee, J. et. al. (2016) Frameshift mutations of a tumor suppressor gene ZNF292 in gastric and colorectal cancers with high microsatellite instability. APMIS 124(7):556-60

de Ligt, J. et. al. (2012) Diagnostic exome sequencing in persons with severe intellectual disability The New England Journal of Medicine 360;20 1921-1929 + Supplement

Lipkin SM, et. al. (1993) Identification of a novel zinc finger protein binding a conserved element critical for Pit-1-dependent growth hormone gene expression. Genes Dev. 1993 Sep;7(9):1674-87.

Loftus, SK, et. al. (2017) Hypoxia-induced HIF1α targets in melanocytes reveal a molecular profile associated with poor melanoma prognosis. Pigment cell & melanoma research 30(3):339-352

Lowry, R. et. al. (2013) Interstitial Deletions at 6q14.1q15 Associated with Developmental Delay and Marfanoid Phenotype Molecular Syndromology 4:280-284

Lui, B. et. al. (2017) long noncoding RNA lncKdm2b is required for ILC3 maintenance by initiation of zfp292 expression Nature Immunology 18(5):499-508

Mirzaa, GM et. al. (2019) De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genetics in Medicine Nov 14: 1-9. doi:10.1038/s41436-019-0693-9.

de Moraes, DC (2012) Pituitary development: a complex, temporal regulated process dependent on specific transcriptional factors. Journal of Endocrinology 215, 239-245.

Morkin, E (2000) Control of Cardiac Myosin Heavy Chain Gene Expression. Microscopy Research and Technique. 50:522-531.

Mullins, PE ed (2012) Developmental Biology of GH Secretion, Growth and Treatment. Endocrine Development Vol. 23 Karger Press.

Neale, B.M. et. al. (2012) Patterns and rates of exonic de novo mutations in autism spectrum disorders Nature 485(7397) 242-245 + Supplement

Ostapcuk, V. et. al. (2018) Activity-dependent neuroprotective protein recruits HP1 and CHD4 to control lineage-specifying genes. Nature 557, 739–743.

Persikov, AV et. al. (2014) Deep sequencing of large library selections allows computational discovery of diverse sets of zinc fingers that bind common targets. Nucleic Acids Res. 2014 Feb;42(3):1497-508.

Persikov, AV et. al. (2015) A systematic survey of the Cys2His2 zinc finger DNA-binding landscape Nucleic Acids Research, Volume 43, Issue 3, 18 February 2015, Pages 1965–1984.

Popp, B. et .al. (2017) Exome Pool-Seq in neurodevelopmental disorders European Journal of Human Genetics 25; 1364–1376

Puente, X., et. al. (2015) Non-coding recurrent mutations in chronic lymphocytic leukaemia Nature 526: 519-524

Quinodoz, S, Guttman, M (2018) Long non-coding RNAs: An emerging link between gene regulation and nuclear organization Trends Cell Biology 24(11): 651-664

De Rubeis, S., et. al. (2014) Synaptic, transcriptional and chromatin genes disrupted in autism Nature 515: 209–215

Sparks, BF (2002) et. al. Brain structural abnormalities in young children with autism spectrum disorder. Neurology. 59(2): 184-192.

Stessman, H.A. et. al. (2017) Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental-disability biases Nature Genetics 49(4):515-526

Sun, Y et. al. (2006) Positive association between POU1F1 and mental retardation in young females in the Chinese Han population. Human Molecular Genetics Vol 15, No 7.

Takeda, H. et. al. (2015) Transposon mutagenesis identifies genes and evolutionary forces driving gastrointestinal tract tumor progression Nature Genetics 47:142-150

Thiru, A. et. al. (2004) Structural basis of HP1/PXVXL motif peptide interactions and HP1 localisation to heterochromatin. EMBO J. 23(3):489-99.

Turner, T.N., et.al. (2017) denovo-db: a compendium of human de novo variants. Nucleic Acids Research 45 Database Issue: D804-D811

Van Dam PS, et. al. (2005) Childhood-onset growth hormone deficiency, cognitive function and brain N-acetylaspartate. Psychoneuroendocrinology 30:357-363.

VanderHeyden, TC et. al. (2000) Mouse growth hormone transcription factor Zn-16: unique bipartite structure containing tandemly repeated zinc finger domains not reported in rat Zn-15. Mol Cell Endocrinol. 2000 Jan 25;159(1-2):89-98.

Vissers, L. et. al. (2016) Genetic Studies in intellectual disability and related disorders Nature Reviews Genetics 17: 9-18

Wang, T. et. al. (2016) De novo genic mutations among a Chinese autism spectrum disorder cohort Nature communications 8 Nov 2016

Webb, EA et. al. (2012) Effect of growth hormone deficiency on brain structure, motor function and cognition. Brain 135:216-227.

Wentzel, C. et. al. (2010) Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype Molecular Syndromology 1:75-81

Wojtkiewicz, PW et. al. (2002) Transcript abundance in mouse pituitaries with altered growth hormone expression quantified by reverse transcriptase polymerase chain reaction implicates transcription factor Zn-16 in gene regulation in vivo. Endocrine. 2002 Jun;18(1):67-74.

Yang, P., et. al. (2016) Silencing of cZNF292 circular RNA suppresses human glioma tube formation via the Wnt/β-catenin signaling pathway Oncotarget 7(39): 63449–63455



Web and Computational Resources

APSSP: Advanced Protein Secondary Structure Prediction Server http://crdd.osdd.net/raghava/apssp/

BioGrid3.5 https://thebiogrid.org/

Brain Map www.brain-map.org

ENSEMBL www.ensembl.org

ExPasy Protein Parameter Tools https://web.expasy.org/protparam/

GeneCards www.genecards.org

GTEXPortal www.gtexportal.org

HeliQuest http://heliquest.ipmc.cnrs.fr/

IntAct https://www.ebi.ac.uk/intact/

MultiCoil2 cb.csail.mit.edu/cb/multicoil2/cgi-bin/multicoil2.cgi

NCBI www.ncbi.nlm.nih.gov

NLS Mapper nls-mapper.iab.keio.ac.jp/cgi-bin/NLS_Mapper_form.cgi

NucPred https://nucpred.bioinfo.se/cgi-bin/single.cgi

PSIPRED http://bioinf.cs.ucl.ac.uk/psipred/

Scratch Protein Predictor http://scratch.proteomics.ics.uci.edu/

Skyline.ms

SOPMA Secondary Structure Prediction Method https://npsa-prabi.ibcp.fr/cgi-bin/npsa_automat.pl?page=npsa_sopma.html

Uniprot www.uniprot.org
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