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https://www.readbyqxmd.com/read/27654581/endoplasmic-reticulum-er-stress-triggers-hax1-dependent-mitochondrial-apoptotic-events-in-cardiac-cells
#1
Eltyeb Abdelwahid, Haijie Li, Jianxin Wu, Ana Carolina Irioda, Katherine Athayde Teixeira de Carvalho, Xuelai Luo
Cardiomyocyte apoptosis is a major process in pathogenesis of a number of heart diseases, including ischemic heart diseases and cardiac failure. Ensuring survival of cardiac cells by blocking apoptotic events is an important strategy to improve cardiac function. Although the role of ER disruption in inducing apoptosis has been demonstrated, we do not yet fully understand how it influences the mitochondrial apoptotic machinery in cardiac cell models. Recent investigations have provided evidences that the prosurvival protein HCLS1-associated protein X-1 (Hax1) protein is intimately associated with the pathogenesis of heart disease, mitochondrial biology, and protection from apoptotic cell death...
November 2016: Apoptosis: An International Journal on Programmed Cell Death
https://www.readbyqxmd.com/read/27506941/kdm4b-plays-an-important-role-in-mitochondrial-apoptosis-by-upregulating-hax1-expression-in-colorectal-cancer
#2
Haijie Li, Xi Yang, Guihua Wang, Xiaolan Li, Deding Tao, Junbo Hu, Xuelai Luo
Histone methyltransferases and demethylases regulate transcription by altering the epigenetic marks on histones in tumorigenesis. Members of the histone lysine(K)-specific demethylase 4 (KDM4) family are dysregulated in several types of cancer. Here, we report a novel role for KDM4B in mitochondrial apoptosis. In this study, we demonstrate that KDM4B is overexpressed in colorectal cancer (CRC) tissues. Decreased expression of KDM4B significantly promoted apoptosis of CRC cell lines. Moreover, our data indicate that HAX1 is required for KDM4B-mediated mitochondrial apoptosis...
August 5, 2016: Oncotarget
https://www.readbyqxmd.com/read/27335634/immunoblotting-validation-of-research-antibodies-generated-against-hs1-associated-protein-x-1-in-the-human-neutrophil-model-cell-line-plb-985
#3
Peter Cavnar, Kristina Inman
HS1-associated protein X-1 (Hax1) is a 35 kDa protein that is ubiquitously expressed. Hax1 is an anti-apoptotic protein with additional roles in cell motility, and autosomal recessive loss of Hax1 results in Kostmann syndrome, a form of severe congenital neutropenia. Because of the important role of Hax1 in neutrophils we demonstrate here validation of two commercially available research antibodies directed against human Hax1 in the human myeloid leukemia cell line PLB-985 cells. We show that both the mouse anti-Hax1 monoclonal IgG directed against amino acids 10-148 of Hax1 and a rabbit anti-Hax1 polyclonal IgG antibody directed against full-length Hax1 reliably and consistently detect Hax1 during immunoblotting of three different PLB-985 cell densities...
2015: F1000Research
https://www.readbyqxmd.com/read/26994629/hax-1-deficiency-characteristics-of-five-cases-including-an-asymptomatic-patient
#4
Cigdem Aydogmus, Funda Cipe, Melda Tas, Aysenur Akinel, Özlem Öner, Gonca Keskindemirci, Helen Bornaun, Günsel Kutluk, Arzu Babayigit Hocaoglu
BACKGROUND: Mutations in the HAX-1 gene cause an autosomal recessive form of severe congenital neutropenia (SCN), which particularly manifests with recurrent skin, lung and deep tissue infections from the first few months of life. OBJECTIVE: We retrospectively evaluated the clinical and laboratory findings of the patients diagnosed with SCN carrying HAX1 gene mutations. METHODS: A total of five patients with SCN, carrying a HAX1 gene mutation, were evaluated in terms of clinical and laboratory findings...
March 2016: Asian Pacific Journal of Allergy and Immunology
https://www.readbyqxmd.com/read/26885017/expression-of-hax1-and-ki-67-in-breast-cancer-and-its-correlations-with-patient-s-clinicopathological-characteristics-and-prognosis
#5
Chenyi Sheng, Qichao Ni
OBJECTIVE: This study aimed to investigate the HS-1-associated protein X-1 (HAX1) and Ki-67 expression in the breast cancer and its clinical significance. METHODS: Breast cancer tissues and tumor-adjacent tissues were collected from 81 patients, and immunohistochemistry was conducted to detect the HAX1 and Ki-67 expression. The correlations of HAX1 expression with demographics, clinicopathological characteristics and prognosis were evaluated. RESULTS: HAX1 was highly expressed in the breast cancer, and its expression was related to the degree of breast cancer differentiation (P=0...
2015: International Journal of Clinical and Experimental Medicine
https://www.readbyqxmd.com/read/26869103/grb7-and-hax1-may-colocalize-partially-to-mitochondria-in-egf-treated-skbr3-cells-and-their-interaction-can-affect-caspase3-cleavage-of-hax1
#6
Lei Qian, Andrew M Bradford, Peter H Cooke, Barbara A Lyons
Growth factor receptor bound protein 7 (Grb7) is a signal-transducing adaptor protein that mediates specific protein-protein interactions in multiple signaling pathways. Grb7, with Grb10 and Grb14, is members of the Grb7 protein family. The topology of the Grb7 family members contains several protein-binding domains that facilitate the formation of protein complexes, and high signal transduction efficiency. Grb7 has been found overexpressed in several types of cancers and cancer cell lines and is presumed involved in cancer progression through promotion of cell proliferation and migration via interactions with the erythroblastosis oncogene B 2 (human epidermal growth factor receptor 2) receptor, focal adhesion kinase, Ras-GTPases, and other signaling partners...
July 2016: Journal of Molecular Recognition: JMR
https://www.readbyqxmd.com/read/26637693/game-of-clones-the-genomic-evolution-of-severe-congenital-neutropenia
#7
Ivo P Touw
Severe congenital neutropenia (SCN) is a genetically heterogeneous condition of bone marrow failure usually diagnosed in early childhood and characterized by a chronic and severe shortage of neutrophils. It is now well-established that mutations in HAX1 and ELANE (and more rarely in other genes) are the genetic cause of SCN. In contrast, it has remained unclear how these mutations affect neutrophil development. Innovative models based on induced pluripotent stem cell technology are being explored to address this issue...
2015: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/26527684/regulation-of-focal-adhesion-dynamics-and-cell-motility-by-the-eb2-and-hax1-protein-complex
#8
Han Liu, Jiping Yue, He Huang, Xuewen Gou, Shao-Yu Chen, Yingming Zhao, Xiaoyang Wu
Cell migration is a fundamental cellular process requiring integrated activities of the cytoskeleton, membrane, and cell/extracellular matrix adhesions. Many cytoskeletal activities rely on microtubule filaments. It has been speculated that microtubules can serve as tracks to deliver proteins essential for focal adhesion turnover. Three microtubule end-binding proteins (EB1, EB2, and EB3) in mammalian cells can track the plus ends of growing microtubules. EB1 and EB3 together can regulate microtubule dynamics by promoting microtubule growth and suppressing catastrophe, whereas, in contrast, EB2 does not play a direct role in microtubule dynamic instability, and little is known about the cellular function of EB2...
December 25, 2015: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/26064889/serca2-haploinsufficiency-in-a-mouse-model-of-darier-disease-causes-a-selective-predisposition-to-heart-failure
#9
Vikram Prasad, John N Lorenz, Valerie M Lasko, Michelle L Nieman, Wei Huang, Yigang Wang, David W Wieczorek, Gary E Shull
Null mutations in one copy of ATP2A2, the gene encoding sarco/endoplasmic reticulum Ca(2+)-ATPase isoform 2 (SERCA2), cause Darier disease in humans, a skin condition involving keratinocytes. Cardiac function appears to be unimpaired in Darier disease patients, with no evidence that SERCA2 haploinsufficiency itself causes heart disease. However, SERCA2 deficiency is widely considered a contributing factor in heart failure. We therefore analyzed Atp2a2 heterozygous mice to determine whether SERCA2 haploinsufficiency can exacerbate specific heart disease conditions...
2015: BioMed Research International
https://www.readbyqxmd.com/read/25864916/hax1-deletion-impairs-bcr-internalization-and-leads-to-delayed-bcr-mediated-apoptosis
#10
Susanne Wolkerstorfer, Elisabeth Schwaiger, Mark Rinnerthaler, Iris Karina Gratz, Thomas Zoegg, Hans Brandstetter, Gertrude Achatz-Straussberger
Deletion of HAX1 in mice causes a severe reduction in the numbers of lymphocytes in the bone marrow and in the spleen. Additionally, B220(+) B progenitor cells in the bone marrow are reduced, suggesting an important function of HAX1 in B cell development. HAX1 is thought to play a protective role in apoptotic processes; therefore, we investigated the role of HAX1 in bone marrow B progenitor cells and splenic B cells. We did not observe an effect on the survival of Hax1(-/-) bone marrow cells but detected enhanced survival of splenic Hax1(-/-) B cells upon in vitro starvation/growth-factor withdrawal...
July 2016: Cellular & Molecular Immunology
https://www.readbyqxmd.com/read/25845382/inhibitory-effects-of-proton-beam-irradiation-on-integrin-expression-and-signaling-pathway-in-human-colon-carcinoma-ht29-cells
#11
Byung Geun Ha, Jung-Eun Park, Hyun-Jung Cho, Young-Bin Lim, Yun Hee Shon
Proton radiotherapy has been established as a highly effective modality used in the local control of tumor growth. Although proton radiotherapy is used worldwide to treat several types of cancer clinically with great success due to superior targeting and energy deposition, the detailed regulatory mechanisms underlying the functions of proton radiation are not yet well understood. Accordingly, in the present study, to assess the effects of proton beam on integrin-mediated signaling pathways, we investigated the expression of integrins related to tumor progression and integrin trafficking, and key molecules related to cell adhesion, as well as examining phosphorylation of signaling molecules involved in integrin-mediated signaling pathways...
2015: International Journal of Oncology
https://www.readbyqxmd.com/read/25683713/self-restrained-b-cells-arise-following-membrane-ige-expression
#12
Brice Laffleur, Sophie Duchez, Karin Tarte, Nicolas Denis-Lagache, Sophie Péron, Claire Carrion, Yves Denizot, Michel Cogné
Among immunoglobulins (Igs), IgE can powerfully contribute to antimicrobial immunity and severe allergy despite its low abundance. IgE protein and gene structure resemble other Ig classes, making it unclear what constrains its production to thousand-fold lower levels. Whether class-switched B cell receptors (BCRs) differentially control B cell fate is debated, and study of the membrane (m)IgE class is hampered by its elusive in vivo expression. Here, we demonstrate a self-controlled mIgE(+) B cell stage. Primary or transfected mIgE(+) cells relocate the BCRs into spontaneously internalized lipid rafts, lose mobility to chemokines, and change morphology...
February 12, 2015: Cell Reports
https://www.readbyqxmd.com/read/25597510/clpb-mutations-cause-3-methylglutaconic-aciduria-progressive-brain-atrophy-intellectual-disability-congenital-neutropenia-cataracts-movement-disorder
#13
Saskia B Wortmann, Szymon Ziętkiewicz, Maria Kousi, Radek Szklarczyk, Tobias B Haack, Søren W Gersting, Ania C Muntau, Aleksandar Rakovic, G Herma Renkema, Richard J Rodenburg, Tim M Strom, Thomas Meitinger, M Estela Rubio-Gozalbo, Elzbieta Chrusciel, Felix Distelmaier, Christelle Golzio, Joop H Jansen, Clara van Karnebeek, Yolanda Lillquist, Thomas Lücke, Katrin Õunap, Riina Zordania, Joy Yaplito-Lee, Hans van Bokhoven, Johannes N Spelbrink, Frédéric M Vaz, Mia Pras-Raves, Rafal Ploski, Ewa Pronicka, Christine Klein, Michel A A P Willemsen, Arjan P M de Brouwer, Holger Prokisch, Nicholas Katsanis, Ron A Wevers
We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into leukemia, a neurological phenotype ranging from nonprogressive intellectual disability to a prenatal encephalopathy with progressive brain atrophy, movement disorder, cataracts, and early death. Exome sequencing of two unrelated individuals and subsequent Sanger sequencing of 16 individuals with an overlapping phenotype identified a total of 14 rare, predicted deleterious alleles in CLPB in 14 individuals from 9 unrelated families...
February 5, 2015: American Journal of Human Genetics
https://www.readbyqxmd.com/read/25451386/phospholamban-interactome-in-cardiac-contractility-and-survival-a-new-vision-of-an-old-friend
#14
REVIEW
Kobra Haghighi, Philip Bidwell, Evangelia G Kranias
Depressed sarcoplasmic reticulum (SR) calcium cycling, reflecting impaired SR Ca-transport and Ca-release, is a key and universal characteristic of human and experimental heart failure. These SR processes are regulated by multimeric protein complexes, including protein kinases and phosphatases as well as their anchoring and regulatory subunits that fine-tune Ca-handling in specific SR sub-compartments. SR Ca-transport is mediated by the SR Ca-ATPase (SERCA2a) and its regulatory phosphoprotein, phospholamban (PLN)...
December 2014: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/25448489/assessment-of-hematopoietic-and-neurologic-pathophysiology-of-hax1-deficiency-in-a-hax1-ko-mouse-model
#15
Emanuele G Coci, Nadine Thau-Habermann, Tobias Maetzig, Zhixiong Li, Christoph Klein, Susanne Petri, Axel Schambach
Severe Congenital Neutropenias are a heterogeneous group of genetic disorders of the hematopoietic system and are characterized by low neutrophil counts. Kostmann syndrome, which is caused by HAX1 deficiency, is the most common form of autosomal recessive inheritance. All affected children present with severe granulocytopenia and consequently life-threatening bacterial infections since birth. The granulocytopenia can be treated with life-long administration of Granulocyte-Colony Stimulating Factor. About 10% of patients affected by HAX1-deficiency suffer from severe and untreatable neuropsychological impairment, whose molecular pathophysiology is not fully understood...
October 28, 2014: Experimental Hematology
https://www.readbyqxmd.com/read/25419709/disruption-of-the-prkcd-fbxo25-hax-1-axis-attenuates-the-apoptotic-response-and-drives-lymphomagenesis
#16
Ursula Baumann, Vanesa Fernández-Sáiz, Martina Rudelius, Simone Lemeer, Roland Rad, Anna-Maria Knorn, Jolanta Slawska, Katharina Engel, Irmela Jeremias, Zhoulei Li, Viktoriya Tomiatti, Anna-Lena Illert, Bianca-Sabrina Targosz, Martin Braun, Sven Perner, Michael Leitges, Wolfram Klapper, Martin Dreyling, Cornelius Miething, Georg Lenz, Andreas Rosenwald, Christian Peschel, Ulrich Keller, Bernhard Kuster, Florian Bassermann
We searched for genetic alterations in human B cell lymphoma that affect the ubiquitin-proteasome system. This approach identified FBXO25 within a minimal common region of frequent deletion in mantle cell lymphoma (MCL). FBXO25 encodes an orphan F-box protein that determines the substrate specificity of the SCF (SKP1-CUL1-F-box)(FBXO25) ubiquitin ligase complex. An unbiased screen uncovered the prosurvival protein HCLS1-associated protein X-1 (HAX-1) as the bona fide substrate of FBXO25 that is targeted after apoptotic stresses...
December 2014: Nature Medicine
https://www.readbyqxmd.com/read/25298122/identification-and-characterization-of-ostl-rnf217-encoding-a-ring-ibr-ring-protein-adjacent-to-a-translocation-breakpoint-involving-etv6-in-childhood-all
#17
Luciana M Fontanari Krause, Anna Sophia Japp, Alexandre Krause, Jana Mooster, Martin Chopra, Markus Müschen, Stefan K Bohlander
Genomic aberrations involving ETV6 on band 12p13 are amongst the most common chromosomal abnormalities in human leukemia. The translocation t(6;12)(q23;13) in a childhood B-cell acute lymphoblastic leukemia (ALL) cell line fuses ETV6 with the putative long non-coding RNA gene STL. Linking STL properties to leukemia has so far been difficult. Here, we describe a novel gene, OSTL (annotated as RNF217 in Genbank), which shares the first exon and a CpG island with STL but is transcribed in the opposite direction...
October 9, 2014: Scientific Reports
https://www.readbyqxmd.com/read/25284454/genetic-analysis-and-clinical-picture-of-severe-congenital-neutropenia-in-israel
#18
Asaf Lebel, Joanne Yacobovich, Tanya Krasnov, Ariel Koren, Carina Levin, Chaim Kaplinsky, Shoshana Ravel-Vilk, Ruth Laor, Dina Attias, Ayelet Ben Barak, Dalia Shtager, Jerry Stein, Amir Kuperman, Hagit Miskin, Orly Dgany, Neelam Giri, Blanche P Alter, Hannah Tamary
BACKGROUND: The relative frequency of mutated genes among patients with severe congenital neutropenia (SCN) may differ between various ethnic groups. To date, few population-based genetic studies have been reported. This study describes the genetic analysis of 32 Israeli patients with SCN. PROCEDURES: Clinical data were retrieved from the prospective Israeli Inherited Bone Marrow Failure Registry. Recruitment included living and deceased patients who were diagnosed between 1982 and 2012, for whom molecular diagnosis was performed...
January 2015: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/25275296/hax1-regulates-e3-ubiquitin-ligase-activity-of-ciaps-by-promoting-their-dimerization
#19
Jin Sun Choi, Byoung Chul Park, Seung Wook Chi, Kwang-Hee Bae, Sunhong Kim, Sayeon Cho, Woo-Chan Son, Pyung Keun Myung, Jeong-Hoon Kim, Sung Goo Park
HS-1-associated protein X-1 (HAX1) is a multi-functional protein which was first identified as a Hematopoietic cell specific Lyn Substrate 1 (HS1)-binding protein. Although the roles of HAX1 in apoptosis have been unraveled and HAX1 has been proposed to be involved in several diseases, additional roles of HAX1 are still being identified. Here, we demonstrated that HAX1 directly interacted with cellular Inhibitor of Apoptosis Proteins (cIAPs), ubiquitin E3 ligases which regulate the abundance of cellular proteins, via ubiquitin-dependent proteasomal degradation...
October 30, 2014: Oncotarget
https://www.readbyqxmd.com/read/24482108/neurological-findings-and-genetic-alterations-in-patients-with-kostmann-syndrome-and-hax1-mutations
#20
REVIEW
Gaëlle Roques, Martine Munzer, Marie-Anne Carpentier Barthez, Sandrine Beaufils, Blandine Beaupain, Terry Flood, Boris Keren, Christine Bellanné-Chantelot, Jean Donadieu
OBJECTIVES: To describe the clinical profile and the prevalence of severe congenital neutropenia (SCN) and HAX1 mutations, so-called Kostmann syndrome, in France. STUDY DESIGN: Two pedigrees were identified from the French registry. RESULTS: The study included five subjects (three males), which represent 0.7% of the 759 SCN cases registered in France. The age at diagnosis was 0.3 years (range: 0.1-1.2 years) and the median age at the last follow-up was 7...
June 2014: Pediatric Blood & Cancer
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