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Chih-Ping Chen, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Li-Feng Chen, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of a prenatally detected derivative chromosome 9 [der(9)] of unknown origin. CASE REPORT: A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, which revealed a der(9) chromosome of unknown origin. The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) analysis revealed a 2.593 Mb deletion of 9p24.3-p24.2 encompassing DOCK8, KANK1, DMRT1, and VLDLR and a 16...
August 2016: Taiwanese Journal of Obstetrics & Gynecology
Benjamin P Bouchet, Rosemarie E Gough, York-Christoph Ammon, Dieudonnée van de Willige, Harm Post, Guillaume Jacquemet, Af Maarten Altelaar, Albert Jr Heck, Benjamin T Goult, Anna Akhmanova
The cross-talk between dynamic microtubules and integrin-based adhesions to the extracellular matrix plays a crucial role in cell polarity and migration. Microtubules regulate the turnover of adhesion sites, and, in turn, focal adhesions promote the cortical microtubule capture and stabilization in their vicinity, but the underlying mechanism is unknown. Here, we show that cortical microtubule stabilization sites containing CLASPs, KIF21A, LL5β and liprins are recruited to focal adhesions by the adaptor protein KANK1, which directly interacts with the major adhesion component, talin...
2016: ELife
Monica R Hensley, Zhibin Cui, Rhys F M Chua, Stefanie Simpson, Nicole L Shammas, Jer-Yen Yang, Yuk Fai Leung, GuangJun Zhang
Gene co-option, usually after gene duplication, in the evolution of development is found to contribute to vertebrate morphological innovations, including the endothelium-based vascular system. Recently, a zebrafish kank gene was found expressed in the vascular vessel primordium, suggesting KANK genes are a component of the developmental tool kit for the vertebrate vascular system. However, how the KANK gene family is involved in vascular vessel development during evolution remains largely unknown. First, we analyzed the molecular evolution of the KANK genes in metazoan, and found that KANK1, KANK2, KANK3 and KANK4 emerged in the lineage of vertebrate, consistent with the two rounds of vertebrate whole-genome duplications (WGD)...
2016: Scientific Reports
Kubra Karagoz, Heather L Lehman, Douglas B Stairs, Raghu Sinha, Kazim Y Arga
Esophageal squamous cell carcinoma (ESCC), which is the most common subtype of esophageal cancers, is the sixth leading cause of cancer death worldwide with a five-year survival rate of 19%. Identification of efficient biomarkers for early detection and better understanding of the molecular mechanisms of ESCC may offer reduced mortality. However, proper biomarkers for clinical diagnosis and prognosis have not been defined yet. In the presented study, we employed a systematic and integrative 'omics' strategy to reconstruct networks of transcriptional regulation and protein-protein interaction to identify novel biomarkers, potential molecular targets, and mechanisms of transcriptional control in ESCC...
February 2, 2016: Current Cancer Drug Targets
Elisa Tassano, Andrea Accogli, Marco Pavanello, Claudio Bruno, Valeria Capra, Giorgio Gimelli, Cristina Cuoco
Chromosome 9p deletion represents a clinically and genetically heterogeneous condition characterized by a wide spectrum of phenotypic manifestations and a variable size of the deleted region. The deletion breakpoint occurs from 9p22 to 9p24 bands, and the large majority of cases have either terminal deletions or translocations involving another chromosome. Here we report on two patients with similar inherited interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes. Interestingly, the two patients showed non-overlapping phenotypic traits ranging from a complex phenotype in one to only trigonocephaly with minor dysmorphic features and hand anomalies in the other one...
January 2016: European Journal of Medical Genetics
Karl Martin Klein, Manuela Pendziwiat, Rony Cohen, Silke Appenzeller, Carolien G F de Kovel, Felix Rosenow, Bobby P C Koeleman, Gregor Kuhlenbäumer, Liron Sheintuch, Ronel Veksler, Alon Friedman, Zaid Afawi, Ingo Helbig
We report a new family with autosomal dominant epilepsy with auditory features (ADEAF) including focal cortical dysplasia (FCD) in the proband. We aim to identify the molecular cause in this family and clarify the relationship between FCD and ADEAF. A large Iranian Jewish family including 14 individuals with epileptic seizures was phenotyped including high-resolution 3-T MRI. We performed linkage analysis and exome sequencing. LGI1, KANK1 and RELN were Sanger sequenced. Seizure semiology of 11 individuals was consistent with ADEAF...
January 2016: Journal of Neurology
Fan-Yan Luo, Shan Xiao, Zi-Hou Liu, Peng-Fei Zhang, Zhi-Qiang Xiao, Can-E Tang
Kank1, which was first described as a potential tumor suppressor for renal cell carcinoma (RCC), mapped to 9p24.3 and encoded an ankyrin-repeat domain-containing protein. Its frequent deletion was found to be associated with several human malignant tumors, cerebral palsy, and neuronal and developmental diseases. However, its functional role in nasopharyngeal cancer (NPC) was still unknown. In the present study, we found that Kank1 expression was down-regulated in NPC cells than in human nasopharyngeal epithelial cell line NP69 and demethylating agent 5-aza-2'-deoxycytidine (5-aza-CdR) could improve its mRNA and protein expression level...
2015: International Journal of Clinical and Experimental Pathology
Heon Yung Gee, Fujian Zhang, Shazia Ashraf, Stefan Kohl, Carolin E Sadowski, Virginia Vega-Warner, Weibin Zhou, Svjetlana Lovric, Humphrey Fang, Margaret Nettleton, Jun-yi Zhu, Julia Hoefele, Lutz T Weber, Ludmila Podracka, Andrej Boor, Henry Fehrenbach, Jeffrey W Innis, Joseph Washburn, Shawn Levy, Richard P Lifton, Edgar A Otto, Zhe Han, Friedhelm Hildebrandt
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of progressive renal function decline and affects millions of people. In a recent study, 30% of SRNS cases evaluated were the result of monogenic mutations in 1 of 27 different genes. Here, using homozygosity mapping and whole-exome sequencing, we identified recessive mutations in kidney ankyrin repeat-containing protein 1 (KANK1), KANK2, and KANK4 in individuals with nephrotic syndrome. In an independent functional genetic screen of Drosophila cardiac nephrocytes, which are equivalents of mammalian podocytes, we determined that the Drosophila KANK homolog (dKank) is essential for nephrocyte function...
June 2015: Journal of Clinical Investigation
Sara M R Clohisey, Nikola S Dzhindzhev, Hiroyuki Ohkura
Little is known about how microtubules are regulated in different cell types during development. EB1 plays a central role in the regulation of microtubule plus ends. It directly binds to microtubule plus ends and recruits proteins which regulate microtubule dynamics and behaviour. We report the identification of Kank, the sole Drosophila orthologue of human Kank proteins, as an EB1 interactor that predominantly localises to embryonic attachment sites between muscle and tendon cells. Human Kank1 was identified as a tumour suppressor and has documented roles in actin regulation and cell polarity in cultured mammalian cells...
2014: PloS One
Joo-Yeon Hwang, Xueling Sim, Ying Wu, Jun Liang, Yasuharu Tabara, Cheng Hu, Kazuo Hara, Claudia H T Tam, Qiuyin Cai, Qi Zhao, Sunha Jee, Fumihiko Takeuchi, Min Jin Go, Rick Twee Hee Ong, Takayoshi Ohkubo, Young Jin Kim, Rong Zhang, Toshimasa Yamauchi, Wing Yee So, Jirong Long, Dongfeng Gu, Nanette R Lee, Soriul Kim, Tomohiro Katsuya, Ji Hee Oh, Jianjun Liu, Satoshi Umemura, Yeon-Jung Kim, Feng Jiang, Shiro Maeda, Juliana C N Chan, Wei Lu, James E Hixson, Linda S Adair, Keum Ji Jung, Toru Nabika, Jae-Bum Bae, Mi Hee Lee, Mark Seielstad, Terri L Young, Yik Ying Teo, Yoshikuni Kita, Naoyuki Takashima, Haruhiko Osawa, So-Hyun Lee, Min-Ho Shin, Dong Hoon Shin, Bo Youl Choi, Jiajun Shi, Yu-Tang Gao, Yong-Bing Xiang, Wei Zheng, Norihiro Kato, Miwuk Yoon, Jiang He, Xiao Ou Shu, Ronald C W Ma, Takashi Kadowaki, Weiping Jia, Tetsuro Miki, Lu Qi, E Shyong Tai, Karen L Mohlke, Bok-Ghee Han, Yoon Shin Cho, Bong-Jo Kim
Fasting plasma glucose (FPG) has been recognized as an important indicator for the overall glycemic state preceding the onset of metabolic diseases. So far, most indentified genome-wide association loci for FPG were derived from populations with European ancestry, with a few exceptions. To extend a thorough catalog for FPG loci, we conducted meta-analyses of 13 genome-wide association studies in up to 24,740 nondiabetic subjects with East Asian ancestry. Follow-up replication analyses in up to an additional 21,345 participants identified three new FPG loci reaching genome-wide significance in or near PDK1-RAPGEF4, KANK1, and IGF1R...
January 2015: Diabetes
Dilibaier Wuxiuer, Yun Zhu, Takunori Ogaeri, Keiji Mizuki, Yuki Kashiwa, Kentaro Nishi, Shin-ichiro Isobe, Tei-ichiro Aoyagi, Ryoiti Kiyama
New fluorescent Fluolid dyes have advantages over others such as stability against heat, dryness, and excess light. Here, we performed simultaneous immunostaining of renal tumors, clear cell renal cell carcinoma (RCC), papillary RCC, chromophobe RCC, acquired cystic disease-associated RCC (ACD-RCC), and renal angiomyolipoma (AML), with primary antibodies against Kank1, cytokeratin 7 (CK7), and CD10, which were detected with secondary antibodies labeled with Fluolid-Orange, Fluolid-Green, and Alexa Fluor 647, respectively...
2014: BioMed Research International
Xiaohang Guo, Wenhai Fan, Xinchao Bian, Dihui Ma
The Kank1 gene is one of the important members of the Kank gene family. As an important adaptor protein, Kank1 plays a significant role in the genesis and development of many malignant tumors. It was recently discovered that the Kank1 gene is a new cancer suppressor, and its expression is significantly downregulated or it is not expressed in kidney cancer, bladder cancer, prostate cancer, lung cancer and breast cancer. However, no report on the role of Kank1 in the genesis of brain glioma is available to date...
March 2014: International Journal of Oncology
Babet van der Vaart, Wilhelmina E van Riel, Harinath Doodhi, Josta T Kevenaar, Eugene A Katrukha, Laura Gumy, Benjamin P Bouchet, Ilya Grigoriev, Samantha A Spangler, Ka Lou Yu, Phebe S Wulf, Jingchao Wu, Gideon Lansbergen, Eljo Y van Battum, R Jeroen Pasterkamp, Yuko Mimori-Kiyosue, Jeroen Demmers, Natacha Olieric, Ivan V Maly, Casper C Hoogenraad, Anna Akhmanova
Mechanisms controlling microtubule dynamics at the cell cortex play a crucial role in cell morphogenesis and neuronal development. Here, we identified kinesin-4 KIF21A as an inhibitor of microtubule growth at the cell cortex. In vitro, KIF21A suppresses microtubule growth and inhibits catastrophes. In cells, KIF21A restricts microtubule growth and participates in organizing microtubule arrays at the cell edge. KIF21A is recruited to the cortex by KANK1, which coclusters with liprin-α1/β1 and the components of the LL5β-containing cortical microtubule attachment complexes...
October 28, 2013: Developmental Cell
Chih-Ping Chen, Yi-Ning Su, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Chen-Chi Lee, Li-Feng Chen, Wayseen Wang
We present rapid aneuploidy diagnosis of distal 9p deletion by array comparative genomic hybridization using uncultured amniocytes in a pregnancy associated with an abnormal maternal serum screening result and intrauterine growth restriction (IUGR) in the fetus. We review the literature of prenatal diagnosis of distal 9p deletion, and add abnormal maternal serum biochemistry and fetal IUGR in the distinctive prenatal findings in pregnancy with fetal distal 9p deletion. We discuss the consequence of haploinsufficiency of DOCK8, KANK1, VLDLR and DMRT1 in this case...
October 2013: Genomics
Michael C Kruer, Tyler Jepperson, Sudeshna Dutta, Robert D Steiner, Ellen Cottenie, Lynn Sanford, Mark Merkens, Barry S Russman, Peter A Blasco, Guang Fan, Jeffrey Pollock, Sarah Green, Randall L Woltjer, Catherine Mooney, Doris Kretzschmar, Coro Paisán-Ruiz, Henry Houlden
OBJECTIVE: Cerebral palsy is estimated to affect nearly 1 in 500 children, and although prenatal and perinatal contributors have been well characterized, at least 20% of cases are believed to be inherited. Previous studies have identified mutations in the actin-capping protein KANK1 and the adaptor protein-4 complex in forms of inherited cerebral palsy, suggesting a role for components of the dynamic cytoskeleton in the genesis of the disease. METHODS: We studied a multiplex consanguineous Jordanian family by homozygosity mapping and exome sequencing, then used patient-derived fibroblasts to examine functional consequences of the mutation we identified in vitro...
December 2013: Annals of Neurology
Maria Sebastiana Marescalco, Carmela Capizzi, Daniele Filippo Condorelli, Vincenza Barresi
BACKGROUND: Head and neck squamous cell carcinoma (HNSCC) is the eighth most commonly diagnosed malignancy worldwide, and it is generally characterized by a poor prognosis. The aim of our study has been to identify possible recurring genomic abnormalities in this malignancy, likely to have a key role in pathogenesis. METHODS: The single-nucleotide polymorphism (SNP)-array data relative to 19 HNSCC samples (submitted by Poage et al., PloS ONE 2010; 5: e9651), accessible at NCBI GEO database (GSE20939), were analyzed using criteria that take into account both genotyping and intensity data...
January 2014: Journal of Oral Pathology & Medicine
Rena J Vanzo, Megan M Martin, Mallory R Sdano, Sarah T South
Deletion of the KANK1 gene (also called ANKRD15), located at chromosome position 9p24.3, has been associated with neurodevelopmental disease including congenital cerebral palsy, hypotonia, quadriplegia, and intellectual disability in a four-generation family. The inheritance pattern in this family was suggested to be maternal imprinting, as all affected individuals inherited the deletion from their fathers and monoallelic protein expression was observed. We present a family in which the proband's phenotype, including autism spectrum disorder, motor delay, and intellectual disability, is consistent with this previous report of KANK1 deletions...
May 2013: European Journal of Medical Genetics
Jeroen R Huyghe, Anne U Jackson, Marie P Fogarty, Martin L Buchkovich, Alena Stančáková, Heather M Stringham, Xueling Sim, Lingyao Yang, Christian Fuchsberger, Henna Cederberg, Peter S Chines, Tanya M Teslovich, Jane M Romm, Hua Ling, Ivy McMullen, Roxann Ingersoll, Elizabeth W Pugh, Kimberly F Doheny, Benjamin M Neale, Mark J Daly, Johanna Kuusisto, Laura J Scott, Hyun Min Kang, Francis S Collins, Gonçalo R Abecasis, Richard M Watanabe, Michael Boehnke, Markku Laakso, Karen L Mohlke
Insulin secretion has a crucial role in glucose homeostasis, and failure to secrete sufficient insulin is a hallmark of type 2 diabetes. Genome-wide association studies (GWAS) have identified loci contributing to insulin processing and secretion; however, a substantial fraction of the genetic contribution remains undefined. To examine low-frequency (minor allele frequency (MAF) 0.5-5%) and rare (MAF < 0.5%) nonsynonymous variants, we analyzed exome array data in 8,229 nondiabetic Finnish males using the Illumina HumanExome Beadchip...
February 2013: Nature Genetics
Ke-Sheng Wang, Xuefeng Liu, Qunyuan Zhang, Min Zeng
Twin and family studies have shown that there is substantial evidence for a genetic component in the vulnerability to nicotine dependence (ND). The purpose of this study was to perform a meta-analysis on two genome-wide association (GWA) data involving 1079 cases of ND and 1341 controls in Caucasian populations. Through meta-analysis we identified 50 SNPs associated with ND with p<10(-4). The best associated SNP rs7163369 (p=3.27×10(-6)) was located at 15q26 within SLCO3A1 gene while the second best SNP was rs9308631 (p=9...
August 1, 2012: Drug and Alcohol Dependence
Chun-Chun Li, Jean-Cheng Kuo, Clare M Waterman, Ryoiti Kiyama, Joel Moss, Martha Vaughan
Brefeldin A-inhibited guanine nucleotide-exchange protein (BIG) 1 activates class I ADP ribosylation factors (ARFs) by accelerating the replacement of bound GDP with GTP to initiate recruitment of coat proteins for membrane vesicle formation. Among proteins that interact with BIG1, kinesin family member 21A (KIF21A), a plus-end-directed motor protein, moves cargo away from the microtubule-organizing center (MTOC) on microtubules. Because KANK1, a protein containing N-terminal KN, C-terminal ankyrin-repeat, and intervening coiled-coil domains, has multiple actions in cells and also interacts with KIF21A, we explored a possible interaction between it and BIG1...
November 29, 2011: Proceedings of the National Academy of Sciences of the United States of America
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