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Susan Azizmohammadi, Sima Azizmohammadi, Aghdas Safari, Maria Kaghazian, Mina Sadrkhanlo, Vahid Behnod, Mehri Seifoleslami
The investigation of specific genes will establish more useful biomarkers for accurate detection and management of gynecological cancers, especially patients with cervical cancer (CCP). The aim of this study was to evaluate the expression level of RIPK4 and EZH2 messenger RNA (RIPK4 and EZH2 mRNA) in CCP. Expression of RIPK4 and EZH2 in the tissues was determined by immunohistochemistry and qRT-PCR methods. Correlations of RIPK4 and EZH2 mRNA with clinical and pathological parameters were analyzed using the Fisher's exact test...
September 30, 2016: Oncology Research
Glen M Scholz, Nur S Sulaiman, Sahar Al Baiiaty, Mei Qi Kwa, Eric C Reynolds
Keratinocytes are central to the barrier functions of surface epithelia, such as the gingiva and epidermis. RIPK4 is a key regulator of keratinocyte differentiation; however, the signalling pathways in which it functions remain poorly defined. In this study, we identified a regulatory relationship between RIPK4 and ELF3, an ETS family transcription factor. RIPK4 was shown to be important for the upregulation of ELF3 gene expression by the PKC agonist PMA in both oral and epidermal keratinocytes. RIPK4 promotes keratinocyte differentiation in part by phosphorylating and thereby activating the IRF6 transcription factor...
December 2016: Cellular Signalling
Steven M Chirieleison, Sylvia B Kertesy, Derek W Abbott
The RIP kinases (RIPKs) play an essential role in inflammatory signaling and inflammatory cell death. However, the function of their kinase activity has been enigmatic, and only recently has kinase domain activity been shown to be crucial for their signal transduction capacity. Despite this uncertainty, the RIPKs have been the subject of intense pharmaceutical development with a number of compounds currently in preclinical testing. In this work, we seek to determine the functional redundancy between the kinase domains of the four major RIPK family members...
May 15, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
Mei Qi Kwa, Glen M Scholz, Eric C Reynolds
Keratinocytes of the oral mucosa and epidermis play key roles in host defense. In addition to functioning as a physical barrier, they also produce cytokines to elicit inflammation in response to infection or injury. We recently established that receptor-interacting protein kinase 4 (RIPK4) and interferon regulatory factor 6 (IRF6) function as a cell-intrinsic signaling axis to regulate keratinocyte differentiation. In this study, we have demonstrated a functional relationship between RIPK4 and IRF6 in the control of proinflammatory cytokine expression in keratinocytes...
July 2016: Cytokine
Javier Rodriguez, Ruth Pilkington, Amaya Garcia Munoz, Lan K Nguyen, Nora Rauch, Susan Kennedy, Naser Monsefi, Ana Herrero, Cormac T Taylor, Alex von Kriegsheim
Amino acid hydroxylation is a post-translational modification that regulates intra- and inter-molecular protein-protein interactions. The modifications are regulated by a family of 2-oxoglutarate- (2OG) dependent enzymes and, although the biochemistry is well understood, until now only a few substrates have been described for these enzymes. Using quantitative interaction proteomics, we screened for substrates of the proline hydroxylase PHD3 and the asparagine hydroxylase FIH, which regulate the HIF-mediated hypoxic response...
March 22, 2016: Cell Reports
Kangsheng Peng, Moubin Lin, Qing Wei, Huaguang Li, Chenbo Zhang, Ruting Xie, Zhanju Liu
OBJECTIVE: To investigate the association between receptor-interacting kinase protein 4 (RIPK4) relative copy number (RCN) and prognosis of stage III( colorectal cancer (CRC) patients treated with oxaliplatin-based chemotherapy. METHODS: RIPK4 RCN was determined by real-time PCR and then dichotomized into high RIPK4 RCN group(n=35) and low RIPK4 RCN group (n=104) using the third quartile as the cut-off point. Overall survival (OS) and recurrence-free survival (RFS) were compared between high and low RIPK4 RCN groups...
November 2015: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
Claire Gueguen, Julien Bouley, Hélène Moussu, Sonia Luce, Magalie Duchateau, Julia Chamot-Rooke, Marc Pallardy, Vincent Lombardi, Emmanuel Nony, Véronique Baron-Bodo, Laurent Mascarell, Philippe Moingeon
BACKGROUND: Regulatory dendritic cell (DC) markers, such as C1Q, are upregulated in PBMCs of patients with grass pollen allergy exhibiting clinical benefit during allergen immunotherapy (AIT). OBJECTIVES: We sought to define markers differentially expressed in human monocyte-derived DCs differentiated toward a proallergic (DCs driving the differentiation of TH2 cells [DC2s]) phenotype and investigate whether changes in such markers in the blood correlate with AIT efficacy...
February 2016: Journal of Allergy and Clinical Immunology
De-Qing Liu, Fang-Fang Li, Jiang-Bo Zhang, Tie-Jun Zhou, Wen-Qiong Xue, Xiao-Hui Zheng, Yuan-Bin Chen, Xiao-Yu Liao, Lan Zhang, Shao-Dan Zhang, Ye-Zhu Hu, Wei-Hua Jia
Aberrant expression of receptor interacting protein kinase 4 (RIPK4), a crucial regulatory protein of Wnt/β-catenin signaling, has recently been reported to be involved in several cancers. Here, we report the potential clinical implication and biological functions of RIPK4 in cervical squamous cell carcinoma (CSCC). One hundred and ninety-eight CSCC cases, 109 low-grade squamous intraepithelial lesions (LSILs), 141 high-grade squamous intraepithelial lesions (HSILs) and 63 chronic cervicitis were collected...
2015: Scientific Reports
Benjamin Gollasch, Fitnat Buket Basmanav, Arti Nanda, Günter Fritz, Hassnaa Mahmoudi, Holger Thiele, Maria Wehner, Sabrina Wolf, Janine Altmüller, Peter Nürnberg, Jorge Frank, Regina C Betz
Three children from an expanded consanguineous Kuwaiti kindred presented with ankyloblepharon, sparse and curly hair, and hypoplastic nails, suggestive of CHAND syndrome (OMIM 214350) that belongs to the heterogeneous spectrum of ectodermal dysplasias. After exclusion of pathogenic mutations in TP63 we performed homozygosity mapping, followed by exome sequencing of one affected individual. We initially identified three homozygous mutations in the linked region, located in PWP2, MX2 and RIPK4. Recently, mutations in RIPK4 have been reported in Bartsocas-Papas syndrome (OMIM 263650) that shows overlapping clinical symptoms with the phenotype observed in the affected individuals studied here...
November 2015: American Journal of Medical Genetics. Part A
Mei Qi Kwa, Jennifer Huynh, Eric C Reynolds, John A Hamilton, Glen M Scholz
IRF6 and RIPK4 are critical regulators of keratinocyte differentiation and their mutation cause the developmental syndromes Van der Woude syndrome (VWS) and Bartsocas-Papas syndrome (BPS), respectively. RIPK4 promotes keratinocyte differentiation, in part, by inducing IRF6 transactivator function through the phosphorylation of its C-terminal domain at Ser413 and Ser424. Although more than 200 IRF6 mutations have been identified in VWS, a p.Arg412X nonsense mutation is particularly prevalent. A RIPK4 p.Ser376X nonsense mutation in BPS was also recently identified...
July 2015: Cellular Signalling
Elizabeth J Leslie, James O'Sullivan, Michael L Cunningham, Ankur Singh, Steven L Goudy, Faroug Ababneh, Lamia Alsubaie, Gaik-Siew Ch'ng, Ingrid M B H van der Laar, A Jeannette M Hoogeboom, Martine Dunnwald, Seema Kapoor, Pawina Jiramongkolchai, Jennifer Standley, J Robert Manak, Jeffrey C Murray, Michael J Dixon
The popliteal pterygia syndromes are a distinct subset of the hundreds of Mendelian orofacial clefting syndromes. Popliteal pterygia syndromes have considerable variability in severity and in the associated phenotypic features but are all characterized by cutaneous webbing across one or more major joints, cleft lip and/or palate, syndactyly, and genital malformations. Heterozygous mutations in IRF6 cause popliteal pterygium syndrome (PPS) while homozygous mutations in RIPK4 or CHUK (IKKA) cause the more severe Bartsocas-Papas syndrome (BPS) and Cocoon syndrome, respectively...
March 2015: American Journal of Medical Genetics. Part A
P De Groote, H T Tran, M Fransen, G Tanghe, C Urwyler, B De Craene, K Leurs, B Gilbert, G Van Imschoot, R De Rycke, C J Guérin, P Holland, G Berx, P Vandenabeele, S Lippens, K Vleminckx, W Declercq
Receptor-interacting protein kinase 4 (RIPK4)-deficient mice have epidermal defects and fusion of all external orifices. These are similar to Bartsocas-Papas syndrome and popliteal pterygium syndrome (PPS) in humans, for which causative mutations have been documented in the RIPK4 and IRF6 (interferon regulatory factor 6) gene, respectively. Although genetically distinct, these syndromes share the anomalies of marked pterygia, syndactyly, clefting and hypoplastic genitalia. Despite the strong resemblance of these two syndromes, no molecular connection between the transcription factor IRF6 and the kinase RIPK4 was known and the mechanism underlying the phenotype was unclear...
June 2015: Cell Death and Differentiation
Brian Poligone, Elaine S Gilmore, Carolina V Alexander, David Oleksyn, Kathleen Gillespie, Jiyong Zhao, Sherrif F Ibrahim, Alice P Pentland, Marc D Brown, Luojing Chen
Non-melanoma skin cancer represents the most common cancer in the United States. Squamous cell carcinoma (SCC) of the skin is a subtype of NMSC that shows a greater potential for invasion and metastasis. The current study identifies the protein kinase C-associated kinase (PKK), which is also known as the receptor-interacting protein kinase 4, as a suppressor of tumor growth in SCC of the skin. We show that expression of PKK is decreased in human SCC of the skin compared with normal skin. Further, suppression of PKK in human keratinocytes leads to increased cell proliferation...
March 2015: Journal of Investigative Dermatology
Mei Qi Kwa, Jennifer Huynh, Jiamin Aw, Lianyi Zhang, Thao Nguyen, Eric C Reynolds, Matthew J Sweet, John A Hamilton, Glen M Scholz
Receptor-interacting protein kinase 4 (RIPK4) and interferon regulatory factor 6 (IRF6) are critical regulators of keratinocyte differentiation, and their mutation causes the related developmental epidermal disorders Bartsocas-Papas syndrome and popliteal pterygium syndrome, respectively. However, the signaling pathways in which RIPK4 and IRF6 operate to regulate keratinocyte differentiation are poorly defined. Here we identify and mechanistically define a direct functional relationship between RIPK4 and IRF6...
November 7, 2014: Journal of Biological Chemistry
Xinhua Wang, Wenyuan Zhu, Yi Zhou, Wanlian Xu, Huiming Wang
BACKGROUND: RIPK4 is essential for the identification of keratinocyte differentiation and cutaneous inflammation. The mechanisms involved in the tumorigenesis of tongue squamous cell carcinoma (TSCC) have not been well characterized yet. OBJECTIVE: To assess RIPK4 expression in various differentiated TSCC and to determine its basic biological function. METHODS: Overall, 109 human samples (36 normal tongue tissues and 73 surgically excised TSCC tissues with different degrees of differentiation) were collected for the present study...
April 2014: International Journal of Biological Markers
Gabriela P de Oliveira, Jessica R Maximino, Mariana Maschietto, Edmar Zanoteli, Renato D Puga, Leandro Lima, Dirce M Carraro, Gerson Chadi
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by loss of motor neurons. Familial ALS is strongly associated to dominant mutations in the gene for Cu/Zn superoxide dismutase (SOD1). Recent evidences point to skeletal muscle as a primary target in the ALS mouse model. Wnt/PI3 K signaling pathways and epithelial-mesenchymal transition (EMT) have important roles in maintenance and repair of skeletal muscle. Wnt/PI3 K pathways and EMT gene expression profile were investigated in gastrocnemius muscle from SOD1(G93A) mouse model and age-paired wild-type control in the presymptomatic ages of 40 and 80 days aiming the early neuromuscular abnormalities that precede motor neuron death in ALS...
April 2014: Cellular and Molecular Neurobiology
D Heim, K Cornils, K Schulze, B Fehse, A W Lohse, T H Brümmendorf, H Wege
Carcinogenesis is a multistep process involving alterations in various cellular pathways. The critical genetic events driving the evolution of primary liver cancer, specifically hepatoblastoma and hepatocellular carcinoma (HCC), are still poorly understood. However, telomere stabilization is acknowledged as prerequisite for cancer progression in humans. In this project, human fetal hepatocytes were utilized as a cell culture model for untransformed, proliferating human liver cells, with telomerase activation as first oncogenic hit...
January 15, 2015: Oncogene
M Reza Sailani, Periklis Makrythanasis, Armand Valsesia, Federico A Santoni, Samuel Deutsch, Konstantin Popadin, Christelle Borel, Eugenia Migliavacca, Andrew J Sharp, Genevieve Duriaux Sail, Emilie Falconnet, Kelly Rabionet, Clara Serra-Juhé, Stefano Vicari, Daniela Laux, Yann Grattau, Guy Dembour, Andre Megarbane, Renaud Touraine, Samantha Stora, Sofia Kitsiou, Helena Fryssira, Chariklia Chatzisevastou-Loukidou, Emmanouel Kanavakis, Giuseppe Merla, Damien Bonnet, Luis A Pérez-Jurado, Xavier Estivill, Jean M Delabar, Stylianos E Antonarakis
Congenital heart defect (CHD) occurs in 40% of Down syndrome (DS) cases. While carrying three copies of chromosome 21 increases the risk for CHD, trisomy 21 itself is not sufficient to cause CHD. Thus, additional genetic variation and/or environmental factors could contribute to the CHD risk. Here we report genomic variations that in concert with trisomy 21, determine the risk for CHD in DS. This case-control GWAS includes 187 DS with CHD (AVSD = 69, ASD = 53, VSD = 65) as cases, and 151 DS without CHD as controls...
September 2013: Genome Research
Karen W Gripp, Sara Ennis, Joseph Napoli
Exome analysis has had a dramatic impact on genetic research. We present the application of such newly generated information to patient care. The patient was a female, born with normal growth parameters to nonconsanguineous parents after an uneventful pregnancy. She had bilateral cleft lip/palate and ankyloblepharon. Sparse hair, dysplastic nails and hypohidrosis were subsequently noted. With exception of speech related issues, her development was normal. A clinical diagnosis of ankyloblepharon-ectodermal defects-cleft lip/palate or Hay-Wells syndrome resulted in TP63 sequence analysis...
May 2013: American Journal of Medical Genetics. Part A
Karen W Gripp, Sara Ennis, Joseph Napoli
Exome analysis has had a dramatic impact on genetic research. We present the application of such newly generated information to patient care. The patient was a female, born with normal growth parameters to nonconsanguineous parents after an uneventful pregnancy. She had bilateral cleft lip/palate and ankyloblepharon. Sparse hair, dysplastic nails and hypohidrosis were subsequently noted. With exception of speech related issues, her development was normal. A clinical diagnosis of ankyloblepharon-ectodermal defects-cleft lip/palate or Hay-Wells syndrome resulted in TP63 sequence analysis...
March 29, 2013: American Journal of Medical Genetics. Part A
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