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1

Wang, Yanhong, Na Li, Yanping Zheng, et al. "KIAA1217 Promotes Epithelial-Mesenchymal Transition and Hepatocellular Carcinoma Metastasis by Interacting with and Activating STAT3." International Journal of Molecular Sciences 23, no. 1 (2021): 104. http://dx.doi.org/10.3390/ijms23010104.

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The survival and prognosis of hepatocellular carcinoma (HCC) are poor, mainly due to metastasis. Therefore, insights into the molecular mechanisms underlying HCC invasion and metastasis are urgently needed to develop a more effective antimetastatic therapy. Here, we report that KIAA1217, a functionally unknown macromolecular protein, plays a crucial role in HCC metastasis. KIAA1217 expression was frequently upregulated in HCC cell lines and tissues, and high KIAA1217 expression was closely associated with shorter survival of patients with HCC. Overexpression and knockdown experiments revealed
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2

Al Dhaheri, Noura, Nan Wu, Sen Zhao, et al. "KIAA1217 : A novel candidate gene associated with isolated and syndromic vertebral malformations." American Journal of Medical Genetics Part A 182, no. 7 (2020): 1664–72. http://dx.doi.org/10.1002/ajmg.a.61607.

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3

Karasugi, Tatsuki, Kei Semba, Yuichiro Hirose, et al. "Association of the Tag SNPs in the HumanSKTGene (KIAA1217) With Lumbar Disc Herniation." Journal of Bone and Mineral Research 24, no. 9 (2009): 1537–43. http://dx.doi.org/10.1359/jbmr.090314.

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4

Lee, Mi-Sook, Ryong Nam Kim, Hoseok I, et al. "Identification of a novel partner gene, KIAA1217, fused to RET: Functional characterization and inhibitor sensitivity of two isoforms in lung adenocarcinoma." Oncotarget 7, no. 24 (2016): 36101–14. http://dx.doi.org/10.18632/oncotarget.9137.

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5

Knyazeva, E. A., S. V. Nikulin, A. Yu Khristichenko, V. A. Petrov, A. Turchinovich та A. A. Sergievich. "HIF-1α Activation Reduces Expression of the microRNA hsa-miR-603 Host Gene KIAA1217 and Increases Expression of the Target CCND1 Gene in BeWo b30 Cells". Biotekhnologiya 35, № 6 (2019): 80–86. http://dx.doi.org/10.21519/0234-2758-2019-35-6-80-86.

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The model of the placental barrier based on the human choriocarcinoma cell line BeWo b30 allows studying the effect of hypoxia on trophoblast cells. The effect of the oxyquinoline derivative inhibiting HIF-prolyl hydroxylases was studied on this model. Inhibition of these enzymes leads to an increase in the HIF-1α subunit in the cytoplasm, mimicking the cell response to hypoxia. Incubation of the cells with the drug at a concentration of 10 uM for 24 h did not affect the paracellular transport, but reduced the transport of glucose through the cell barrier. The transcriptome analysis after the
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6

Kuroda, Naoto, Kiril Trpkov, Yuan Gao, et al. "ALK rearranged renal cell carcinoma (ALK-RCC): a multi-institutional study of twelve cases with identification of novel partner genes CLIP1, KIF5B and KIAA1217." Modern Pathology 33, no. 12 (2020): 2564–79. http://dx.doi.org/10.1038/s41379-020-0578-0.

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7

Mohammadi, Ali, Sadegh Alijani, Seyed Abbas Rafat, and Rostam Abdollahi-Arpanahi. "Genome-Wide Association Study and Pathway Analysis for Female Fertility Traits in Iranian Holstein Cattle." Annals of Animal Science 20, no. 3 (2020): 825–51. http://dx.doi.org/10.2478/aoas-2020-0031.

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AbstractFemale fertility is an important trait that contributes to cow’s profitability and it can be improved by genomic information. The objective of this study was to detect genomic regions and variants affecting fertility traits in Iranian Holstein cattle. A data set comprised of female fertility records and 3,452,730 pedigree information from Iranian Holstein cattle were used to predict the breeding values, which were then employed to estimate the de-regressed proofs (DRP) of genotyped animals. A total of 878 animals with DRP records and 54k SNP markers were utilized in the genome-wide ass
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8

Iwadate, Manabu, Norisato Mitsutake, Michiko Matsuse, et al. "The Clinicopathological Results of Thyroid Cancer With BRAF V600E Mutation in the Young Population of Fukushima." Journal of Clinical Endocrinology & Metabolism 105, no. 12 (2020): e4328-e4336. http://dx.doi.org/10.1210/clinem/dgaa573.

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Abstract Background Thyroid ultrasound screening for children aged 0 to 18 years was performed in Fukushima following the accident at the Fukushima Daiichi Nuclear Power Plant. As a result, many thyroid cancer cases were detected. To explore the carcinogenic mechanisms of these cancers, we analyzed their clinicopathological and genetic features. Methods We analyzed 138 cases (52 males and 86 females) who had undergone surgery between 2013 and 2016 at Fukushima Medical University Hospital. Postoperative pathological diagnosis revealed 136 (98.6%) cases of papillary thyroid cancer (PTC). Results
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9

Lin, Rongbo, Shen Zhao, Lisheng Cai, et al. "Real-world fusion landscape in advanced Chinese gastric cancer using next generation sequencing: A multicenter study." Journal of Clinical Oncology 37, no. 4_suppl (2019): 51. http://dx.doi.org/10.1200/jco.2019.37.4_suppl.51.

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51 Background: Gastric cancer (GC) is a highly heterogeneous disease. Cell-free DNA (cfDNA) has been a research hotspot in molecular tumor profiling. In advanced GC patients, malignant pleural effusion (MPE) and ascites provide a wealth of tumor cells that can be investigated. The aim of this study is to investigate fusion landscape in advanced GC. Methods: A multicenter study in China was initiated from Aug. 2016, and GC patients have been enrolled as of Aug. 2018. To determine the fusion frequency in GC, we analyzed data from 371clinical GC cases, each of which had results from next-generati
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10

Cleary, James M., Martin Henner Voss, Funda Meric-Bernstam, et al. "Safety and efficacy of the selective FGFR inhibitor debio 1347 in phase I study patients with FGFR genomically activated advanced biliary tract cancer (BTC)." Journal of Clinical Oncology 36, no. 4_suppl (2018): 447. http://dx.doi.org/10.1200/jco.2018.36.4_suppl.447.

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447 Background: BTC are aggressive tumors with limited treatment options and poor overall survival. Aberrant FGFR signaling has been implicated in BTC carcinogenesis. Debio 1347 is an orally available selective FGFRi with potent antitumor effect in preclinical model bearing FGFR alterations. Debio 1347 showed encouraging preliminary clinical activity and manageable treatment-emergent adverse events (TEAE) in its first-in-human (FIH) ph1 study (NCT1948297) dose-escalating part. Here we report only results from the BTC pts of this study. Methods: This FIH study enrolled pts with advanced solid m
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11

Iwamori, Tokuko, Naoki Iwamori, Masaki Matsumoto, Hiroyuki Imai, and Etsuro Ono. "Novel localizations and interactions of intercellular bridge proteins revealed by proteomic profiling†." Biology of Reproduction 102, no. 5 (2020): 1134–44. http://dx.doi.org/10.1093/biolre/ioaa017.

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Abstract Intercellular bridges (ICBs) connecting germ cells are essential for spermatogenesis, and their deletion causes male infertility. However, the functions and component factors of ICBs are still unknown. We previously identified novel ICB-associated proteins by proteomics analysis using ICB enrichment. Here, we performed immunoprecipitation–proteomics analyses using antibodies specific to known ICB proteins MKLP1, RBM44, and ectoplasmic specialization-associated protein KIAA1210 and predicted protein complexes in the ICB cores. KIAA1210, its binding protein topoisomerase2B (TOP2B), and
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12

Madison, Russell, Ethan Sokol, Alexa Betzig Schrock, et al. "FGFR2: A pan-genomic target." Journal of Clinical Oncology 37, no. 15_suppl (2019): 3099. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.3099.

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3099 Background: FGFR2 genomic alterations (GA) have been described in a variety of solid tumors and emerged as biomarkers for investigational agents undergoing clinical trials. Methods: 201,766 primarily relapsed/refractory malignancies were evaluated with a hybrid-capture based sequencing assay Tumor mutational burden (TMB) was determined on 0.8-1.1 Mbp of sequenced DNA and reported as mut/Mb. Microsatellite instability (MSI) was determined on 114 loci. PD-L1 expression was determined by IHC (Dako 22C3 antibody). Results: FGFR2 GA were detected in 2,993 (1.5%) cases featuring short variant (
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13

Javle, Milind M., Karthikeyan Murugesan, Rachna T. Shroff, et al. "Profiling of 3,634 cholangiocarcinomas (CCA) to identify genomic alterations (GA), tumor mutational burden (TMB), and genomic loss of heterozygosity (gLOH)." Journal of Clinical Oncology 37, no. 15_suppl (2019): 4087. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.4087.

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4087 Background: The management of CCA has evolved as targeted and immune checkpoint inhibitor (ICPI) therapies have emerged. We used comprehensive genomic profiling (CGP) to characterize the genomic alterations (GA) that have potential to personalize therapy for CCA. Methods: 3634 CCA underwent hybrid capture based CGP on 0.8-1.1 Mb of the coding genome to identify GAs in exons and select introns in up to 404 genes, TMB, microsatellite status (MSI) and % monoallelic genome (gLOH). PD-L1 expression was determined by IHC (Dako 22C3). Results: 52% of CCA were female with a median age of 62 years
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14

Hu, Ming, Jing Wei, Liu Yang та ін. "Linc-KIAA1737–2 promoted LPS-induced HK-2 cell apoptosis by regulating miR-27a-3p/TLR4/NF-κB axis". Journal of Bioenergetics and Biomembranes 53, № 4 (2021): 393–403. http://dx.doi.org/10.1007/s10863-021-09897-1.

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AbstractInflammation and renal cell apoptosis participate in sepsis-induced acute kidney injury. Previous research found the upregulation of long non-coding RNA Linc-KIAA1737–2 in hypoxia- or inflammation-challenged human proximal tubular epithelial cells, but its role in sepsis-induced acute kidney injury is underexplored. In this research, we found that Linc-KIAA1737–2 could be upregulated in HK-2 human proximal tubular epithelial cells by LPS treatment, and knock-down of this lncRNA significantly attenuated LPS-induced apoptosis in HK-2 cells, while its overexpression showed opposite effect
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15

Bhat-Nakshatri, Poornima, Hongyu Gao, Cihat Erdogan, Yunlong Liu, and Harikrishna Nakshatri. "Abstract 2136: Genetic ancestry dependent variability in stromal cells: An unexplored player in breast cancer disparity." Cancer Research 84, no. 6_Supplement (2024): 2136. http://dx.doi.org/10.1158/1538-7445.am2024-2136.

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Abstract Genetic ancestry dependent variability in cancer incidence, mutation patterns, response to chemotherapy, and outcome has been documented. While an association between social determinants of health and breast cancer disparity has already been established, there is emerging evidence for genetic ancestry dependent variability in normal breast biology impacting breast cancer biology and potentially outcome. Tumor biology studies in the context of genetic ancestry and disparity have often focused on intrinsic properties of tumor cells or tumor infiltrating immune cells. However, other stro
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16

Itoh, Reina E., Kazuo Kurokawa, Yusuke Ohba, Hisayoshi Yoshizaki, Naoki Mochizuki, and Michiyuki Matsuda. "Activation of Rac and Cdc42 Video Imaged by Fluorescent Resonance Energy Transfer-Based Single-Molecule Probes in the Membrane of Living Cells." Molecular and Cellular Biology 22, no. 18 (2002): 6582–91. http://dx.doi.org/10.1128/mcb.22.18.6582-6591.2002.

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ABSTRACT Rho family G proteins, including Rac and Cdc42, regulate a variety of cellular functions such as morphology, motility, and gene expression. We developed fluorescent resonance energy transfer-based probes which monitored the local balance between the activities of guanine nucleotide exchange factors and GTPase-activating proteins for Rac1 and Cdc42 at the membrane. These probes, named Raichu-Rac and Raichu-Cdc42, consisted of a Cdc42- and Rac-binding domain of Pak, Rac1 or Cdc42, a pair of green fluorescent protein mutants, and a CAAX box of Ki-Ras. With these probes, we video imaged t
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17

L. Snider, Paige, Elizabeth Snider, Olga Simmons, Brenda Lilly, and Simon J. Conway. "Analysis of Uncharacterized mKiaa1211 Expression during Mouse Development and Cardiovascular Morphogenesis." Journal of Cardiovascular Development and Disease 6, no. 2 (2019): 24. http://dx.doi.org/10.3390/jcdd6020024.

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Mammalian Kiaa1211 and Kiaa1211-like are a homologous pair of uncharacterized, highly conserved genes cloned from fetal and adult brain cDNA libraries. Herein we map the in utero spatiotemporal expression of mKiaa1211 and mKiaa1211L mRNA and their expression patterns in postnatal testis, skin, gastrointestinal, and adipose progenitor tissues. Significantly, mKiaa1211 is present throughout the early stages of mouse heart development, particularly in the second heart field (SHF) lineage as it differentiates from mesenchymal cells into cardiomyocytes. We also show that mKiaa1211 is expressed with
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18

Suganuma, Tamaki, and Jerry L. Workman. "Features of the PHF8/KIAA1718 histone demethylase." Cell Research 20, no. 8 (2010): 861–62. http://dx.doi.org/10.1038/cr.2010.110.

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19

Xu, D. Q., Y. Z. Xiong, M. Liu, et al. "Association Analyses with Carcass Traits in the Porcine KIAA1717 and HUMMLC2B Genes." Asian-Australasian Journal of Animal Sciences 18, no. 11 (2005): 1519–23. http://dx.doi.org/10.5713/ajas.2005.1519.

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20

Liu, Zhengcheng, Hui Cao, Ye Shi, and Rusong Yang. "KIAA1211 plays an oncogenic role in human non-small cell lung cancer." Journal of Cancer 10, no. 26 (2019): 6747–53. http://dx.doi.org/10.7150/jca.35951.

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21

Zhang, Shengzhe, Kee-Bum Kim, Yuanjian Huang, et al. "Abstract 1714: CRACD/KIAA1211 loss drives cell plasticity and immune evasion of small cell lung cancer." Cancer Research 83, no. 7_Supplement (2023): 1714. http://dx.doi.org/10.1158/1538-7445.am2023-1714.

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Abstract Small cell lung carcinoma (SCLC) is a lethal neuroendocrine type of lung cancer with limited therapeutic options. Despite recent advances in cancer immunotherapy, its efficacy is limited to a small subset of SCLC patient tumors. The molecular origin of the refractoriness to immunotherapy remains elusive. CRACD (Capping protein inhibiting regulator of actin dynamics; KIAA1211/CRAD) gene is frequently mutated and transcriptionally downregulated in SCLC. Cracd knockout (KO) causes the transformation of preneoplastic neuroendocrine cells and significantly accelerates SCLC development in a
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22

Scrivens, P. James, Baraa Noueihed, Nassim Shahrzad, Sokunthear Hul, Stephanie Brunet, and Michael Sacher. "C4orf41 and TTC-15 are mammalian TRAPP components with a role at an early stage in ER-to-Golgi trafficking." Molecular Biology of the Cell 22, no. 12 (2011): 2083–93. http://dx.doi.org/10.1091/mbc.e10-11-0873.

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TRAPP is a multisubunit tethering complex implicated in multiple vesicle trafficking steps in Saccharomyces cerevisiae and conserved throughout eukarya, including humans. Here we confirm the role of TRAPPC2L as a stable component of mammalian TRAPP and report the identification of four novel components of the complex: C4orf41, TTC-15, KIAA1012, and Bet3L. Two of the components, KIAA1012 and Bet3L, are mammalian homologues of Trs85p and Bet3p, respectively. The remaining two novel TRAPP components, C4orf41 and TTC-15, have no homologues in S. cerevisiae. With this work, human homologues of all
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23

Keefer, Jeffrey R., Shirley H. Purvis, George J. Dover, and Kirby D. Smith. "Analysis of the X-Linked F-Cell Production Locus." Blood 106, no. 11 (2005): 3178. http://dx.doi.org/10.1182/blood.v106.11.3178.3178.

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Abstract This laboratory has previously identified a locus on the X chromosome at Xp22.2–22.3 (F-cell production locus or FCP) that is responsible for approximately 40% of the genetic variability in F-cell number in patients with sickle cell disease (SCD). We have re-examined the association of this region with F-cell production by multipoint linkage analysis. We have confirmed linkage to Xp22.2–22.3 and refined the candidate locus to a region of approximately 3 cM, between markers DXS452 and DXS410, with a maximum LOD score of 3.315. Linkage to a more extended region of 11 cM with an average
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24

FUKUDA, Mitsunori, and Katsuhiko MIKOSHIBA. "Characterization of KIAA1427 protein as an atypical synaptotagmin (Syt XIII)." Biochemical Journal 354, no. 2 (2001): 249. http://dx.doi.org/10.1042/0264-6021:3540249.

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25

FUKUDA, Mitsunori, and Katsuhiko MIKOSHIBA. "Characterization of KIAA1427 protein as an atypical synaptotagmin (Syt XIII)." Biochemical Journal 354, no. 2 (2001): 249–57. http://dx.doi.org/10.1042/bj3540249.

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Synaptotagmin (Syt) belongs to a family of type-I membrane proteins and is a protein that consists of a short extracellular N-terminus, a single transmembrane domain, two C2 domains and a short C-terminus. Here, we cloned and characterized a mouse orthologue of human KIAA1427 protein as an atypical Syt (named Syt XIII). Subcellular fractionation and antibody-uptake experiments indicate that Syt XIII is indeed a type-I membrane protein, but, unlike other Syt isoforms, lacks an N-terminal extracellular domain. Syt XIII C2 domains show relatively little similarity to Syt I (less than 35% identity
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26

Sikhayeva, N., A. Nakysh, T. Utupov, and E. Zholdybayeva. "WHOLE EXOME SEQUENCING OF A PATIENT WITH MORBID OBESITY: TRIO ANALYSIS, PRELIMINARY RESULTS." Eurasian Journal of Applied Biotechnology, no. 1 (April 13, 2023): 56–66. http://dx.doi.org/10.11134/btp.1.2023.5.

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Morbid obesity is a severe form of obesity that leads to numerous cardiovascular, metabolic diseases and cancers, as well as increased mortality. Whole-exome sequencing is the effective tool for studying more extreme forms of disease, such as morbid obesity. The aim of the study is to identify candidate genes involved in the development of morbid obesity using whole exome sequencing. Here in this study, a family from Kazakh cohort having two siblings, one unaffected and one affected with morbid obesity was enrolled. Whole Exome Sequencing (WES) of trio with one affected and unaffected parents
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27

Li, Yaqian, Yan Wang, Yuting Wen, et al. "Whole-exome sequencing of a cohort of infertile men reveals novel causative genes in teratozoospermia that are chiefly related to sperm head defects." Human Reproduction 37, no. 1 (2021): 152–77. http://dx.doi.org/10.1093/humrep/deab229.

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Abstract STUDY QUESTION Can whole-exome sequencing (WES) and in vitro validation studies identify new causative genes associated with teratozoospermia, particularly for sperm head defect? SUMMARY ANSWER We investigated a core group of infertile patients, including 82 cases with unexplained abnormal sperm head and 67 individuals with multiple morphological abnormalities of the sperm flagella (MMAF), and revealed rare and novel deleterious gene variants correlated with morphological abnormalities of the sperm head or tail defects. WHAT IS KNOWN ALREADY Teratozoospermia is one of the most common
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28

Huang, Chengyang, Yang Xiang, Yanru Wang, et al. "Dual-specificity histone demethylase KIAA1718 (KDM7A) regulates neural differentiation through FGF4." Cell Research 20, no. 2 (2010): 154–65. http://dx.doi.org/10.1038/cr.2010.5.

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29

Yoder, Michael, and Jeffrey D. Hildebrand. "Shroom4 (Kiaa1202) is an actin-associated protein implicated in cytoskeletal organization." Cell Motility and the Cytoskeleton 64, no. 1 (2006): 49–63. http://dx.doi.org/10.1002/cm.20167.

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30

Aguiar, Ricardo C. T., Yoshihiro Yakushijin, Samir Kharbanda, Ravi Salgia, Jonathan A. Fletcher, and Margaret A. Shipp. "BAL is a novel risk-related gene in diffuse large B-cell lymphomas that enhances cellular migration." Blood 96, no. 13 (2000): 4328–34. http://dx.doi.org/10.1182/blood.v96.13.4328.

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Abstract Clinical risk factor models such as the International Prognostic Index are used to identify diffuse large B-cell lymphoma (DLB-CL) patients with different risks of death from their diseases. To elucidate the molecular bases for these observed clinical differences in outcome, differential display was used to identify a novel gene, termed BAL (B-aggressivelymphoma), which is expressed at significantly higher levels in fatal high-risk DLB-CLs than in cured low-risk tumors. The major BAL complementary DNA encodes a previously uncharacterized 88-kd nuclear protein with a duplicated N-termi
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31

Aguiar, Ricardo C. T., Yoshihiro Yakushijin, Samir Kharbanda, Ravi Salgia, Jonathan A. Fletcher, and Margaret A. Shipp. "BAL is a novel risk-related gene in diffuse large B-cell lymphomas that enhances cellular migration." Blood 96, no. 13 (2000): 4328–34. http://dx.doi.org/10.1182/blood.v96.13.4328.h8004328_4328_4334.

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Анотація:
Clinical risk factor models such as the International Prognostic Index are used to identify diffuse large B-cell lymphoma (DLB-CL) patients with different risks of death from their diseases. To elucidate the molecular bases for these observed clinical differences in outcome, differential display was used to identify a novel gene, termed BAL (B-aggressivelymphoma), which is expressed at significantly higher levels in fatal high-risk DLB-CLs than in cured low-risk tumors. The major BAL complementary DNA encodes a previously uncharacterized 88-kd nuclear protein with a duplicated N-terminal domai
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32

Lai, Fenju, Kaishun Hu, Yuanzhong Wu, et al. "Human KIAA1018/FAN1 nuclease is a new mitotic substrate of APC/CCdh1." Chinese Journal of Cancer 31, no. 9 (2012): 440–48. http://dx.doi.org/10.5732/cjc.012.10144.

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33

Lim, Young-Min, InSong Koh, Young-Mi Park, et al. "Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy." Neuromuscular Disorders 22, no. 5 (2012): 394–400. http://dx.doi.org/10.1016/j.nmd.2011.11.006.

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34

Zheng, Shu-Tao, Chen-Chen Yang, Qing Liu, et al. "KIAA1377 is associated with lymph node metastasis in esophageal squamous cell carcinoma." Oncology Letters 12, no. 6 (2016): 5223–28. http://dx.doi.org/10.3892/ol.2016.5343.

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35

Xu, D. Q., M. Liu, Y. Z. Xiong, et al. "Identification of polymorphisms and association analysis with meat quality traits in the porcine KIAA1717 and HUMMLC2B genes." Livestock Science 106, no. 1 (2007): 96–101. http://dx.doi.org/10.1016/j.livsci.2006.07.005.

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36

Kim, Ju Young, Xin Duan, Cindy Y. Liu, et al. "DISC1 Regulates New Neuron Development in the Adult Brain via Modulation of AKT-mTOR Signaling through KIAA1212." Neuron 63, no. 6 (2009): 761–73. http://dx.doi.org/10.1016/j.neuron.2009.08.008.

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37

Shereda, Robert D., Yuka Machida, and Yuichi J. Machida. "Human KIAA1018/FAN1 localizes to stalled replication forks via its ubiquitin-binding domain." Cell Cycle 9, no. 19 (2010): 3977–83. http://dx.doi.org/10.4161/cc.9.19.13207.

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38

Okazaki, Noriko, Shun Ikeda, Reiko Ohara, et al. "The Novel Protein Complex with SMARCAD1/KIAA1122 Binds to the Vicinity of TSS." Journal of Molecular Biology 382, no. 2 (2008): 257–65. http://dx.doi.org/10.1016/j.jmb.2008.07.031.

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39

Kratz, Katja, Barbara Schöpf, Svenja Kaden, et al. "Deficiency of FANCD2-Associated Nuclease KIAA1018/FAN1 Sensitizes Cells to Interstrand Crosslinking Agents." Cell 142, no. 1 (2010): 77–88. http://dx.doi.org/10.1016/j.cell.2010.06.022.

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40

Hagens, Olivier, Aline Dubos, Fatima Abidi, et al. "Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation." Human Genetics 118, no. 5 (2005): 578–90. http://dx.doi.org/10.1007/s00439-005-0072-2.

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41

Yoshikiyo, K., K. Kratz, K. Hirota, et al. "KIAA1018/FAN1 nuclease protects cells against genomic instability induced by interstrand cross-linking agents." Proceedings of the National Academy of Sciences 107, no. 50 (2010): 21553–57. http://dx.doi.org/10.1073/pnas.1011081107.

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42

Brockschmidt, Antje, Detlef Trost, Heike Peterziel, et al. "KIAA1797/FOCAD encodes a novel focal adhesion protein with tumour suppressor function in gliomas." Brain 135, no. 4 (2012): 1027–41. http://dx.doi.org/10.1093/brain/aws045.

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43

Abrarova, N. D., E. A. Stoukacheva, V. V. Pleshkan, T. V. Vinogradova, and E. D. Sverdlov. "Functional analysis of the HERV-K LTR residing in the KIAA1245/NBPF subfamily genes." Molecular Biology 44, no. 4 (2010): 552–58. http://dx.doi.org/10.1134/s0026893310040084.

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44

MacKay, Craig, Anne-Cécile Déclais, Cecilia Lundin, et al. "Identification of KIAA1018/FAN1, a DNA Repair Nuclease Recruited to DNA Damage by Monoubiquitinated FANCD2." Cell 142, no. 1 (2010): 65–76. http://dx.doi.org/10.1016/j.cell.2010.06.021.

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45

Sakai, Noriko, Hiromi Terami, Shinobu Suzuki, et al. "Identification of NR5A1 (SF-1/AD4BP) gene expression modulators by large-scale gain and loss of function studies." Journal of Endocrinology 198, no. 3 (2008): 489–97. http://dx.doi.org/10.1677/joe-08-0027.

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Анотація:
Nuclear receptor subfamily 5, group A, member 1 (NR5A1 previously known as SF-1/AD4BP) is a transcription factor involved in the development of adrenal/gonadal tissues and steroidogenic linage cell differentiation in adult somatic stem cells. To understand the cellular signaling network that regulates NR5A1 gene expression, loss of function screening with an siRNA kinome library, and gain of function screening with an addressable full-length cDNA library representing one quarter of the human genome was carried out. The NR5A1 gene expression was activated in mesenchymal stem cells by siRNA dire
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46

Zhiwei, Gao, Yan Chao, Meng Xiangkun, et al. "Identification of Key Gene Modules and Potential ceRNA Network in Progressive Coronary Artery Disease by Weighted Gene Co-Expression Network Analysis." Journal of BioData Mining 1, no. 1 (2025): 001–11. https://doi.org/10.17352/jbdm.000001.

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Анотація:
Coronary Artery Disease (CAD) is a global chronic inflammatory disease with high morbidity and mortality, seriously endangering human health and life quality. Therefore, exploring the critical molecular mechanisms and identifying potential signaling pathways in CAD progression is vital. We reanalyzed peripheral blood mRNA microarray expression data from the GSE34822 dataset and identified 15 gene co-expression modules using weighted gene co-expression network analysis (WGCNA). One of the modules was found to be closely associated with CAD progression, mediating pathways such as platelet degran
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47

Brooks, Alice S., Aida M. Bertoli-Avella, Grzegorz M. Burzynski, et al. "Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems." American Journal of Human Genetics 77, no. 1 (2005): 120–26. http://dx.doi.org/10.1086/431244.

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48

Melton, P. E., S. Rutherford, V. S. Voruganti, et al. "Bivariate genetic association of KIAA1797 with heart rate in American Indians: the Strong Heart Family Study." Human Molecular Genetics 19, no. 18 (2010): 3662–71. http://dx.doi.org/10.1093/hmg/ddq274.

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49

Lin, Jennie, Xuan Zhang, Chenyi Xue, et al. "The long noncoding RNA landscape in hypoxic and inflammatory renal epithelial injury." American Journal of Physiology-Renal Physiology 309, no. 11 (2015): F901—F913. http://dx.doi.org/10.1152/ajprenal.00290.2015.

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Анотація:
Long noncoding RNAs (lncRNAs) are emerging as key species-specific regulators of cellular and disease processes. To identify potential lncRNAs relevant to acute and chronic renal epithelial injury, we performed unbiased whole transcriptome profiling of human proximal tubular epithelial cells (PTECs) in hypoxic and inflammatory conditions. RNA sequencing revealed that the protein-coding and noncoding transcriptomic landscape differed between hypoxia-stimulated and cytokine-stimulated human PTECs. Hypoxia- and inflammation-modulated lncRNAs were prioritized for focused followup according to thei
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50

Illarionova, A. E., T. V. Vinogradova, P. A. Zhulidov, and E. D. Sverdlov. "P6 A new family of KIAA1245 genes with and without the HERV-K LTRs in their introns." European Journal of Cancer Supplements 2, no. 1 (2004): 41. http://dx.doi.org/10.1016/s1359-6349(04)90125-5.

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