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https://www.readbyqxmd.com/read/28440896/genome-wide-meta-analysis-identifies-a-novel-susceptibility-signal-at-cacna2d3-for-nicotine-dependence
#1
Xianyong Yin, Chris Bizon, Jeffrey Tilson, Yuan Lin, Ian R Gizer, Cindy L Ehlers, Kirk C Wilhelmsen
Nicotine dependence (ND) has a reported heritability of 40-70%. Low-coverage whole-genome sequencing was conducted in 1,889 samples from the UCSF Family study. Linear mixed models were used to conduct genome-wide association (GWA) tests of ND in this and five cohorts obtained from the database of Genotypes and Phenotypes. Fixed-effect meta-analysis was carried out separately for European (n = 14,713) and African (n = 3,369) participants, and then in a combined analysis of both ancestral groups. The meta-analysis of African participants identified a significant and novel susceptibility signal (rs56247223; p = 4...
April 25, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28211977/1q21-3-deletion-involving-gatad2b-an-emerging-recurrent-microdeletion-syndrome
#2
Thipwimol Tim-Aroon, Natini Jinawath, Weerin Thammachote, Praweena Sinpitak, Anchalee Limrungsikul, Chaiyos Khongkhatithum, Duangrurdee Wattanasirichaigoon
GATAD2B gene is involved in chromatin modification and transcription activity. Loss-of-function mutations of GATAD2B have recently been defined to cause a recognizable syndrome with intellectual disability (ID). Human TPM3 gene encoding thin filament protein is associated with myopathies. Both genes are located on chromosome 1q21.3. We herein report an infant with feeding difficulty, developmental delay, hypotonia, and dysmorphic features including small palpebral fissures, telecanthus, sparse hair and eyebrow, cup-shaped ears, and clinodactyly...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28169428/hax1-mutation-positive-children-presenting-with-haemophagocytic-lymphohistiocytosis
#3
Tuba H Karapınar, Deniz Yılmaz Karapinar, Yeşim Oymak, Yılmaz Ay, Bengü Demirağ, Ayça Aykut, Hüseyin Onay, Filiz Hazan, Yeşim Aydınok, Ferda Özkınay, Canan Vergin
The genetic basis of haemophagocytic lymphohistiocytosis (HLH) has not been elucidated in 10% of affected patients. In this study, we report four HLH episodes in three patients with HAX1 gene mutations. We screened the mutations associated with congenital neutropenia (CN) because the neutropenia persisted following HLH treatment. There were homozygous HAX1 mutations detected in all patients. This is the first case series of patients with CN caused by HAX1 mutation who presented with HLH. We hypothesize that severe neutropenia persists after an HLH episode in children without HLH mutations (especially infants) because these patients have CN caused by HAX1 mutations...
February 7, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28137643/mlf1-is-a-proapoptotic-antagonist-of-hop-complex-mediated-survival
#4
Yi Sun, Jyh-Rong Chao, Wu Xu, Alan Pourpak, Kelli Boyd, Simon Moshiach, Guo-Yan Qi, Amina Fu, Hua-Rong Shao, Stanley Pounds, Stephan W Morris
In the HAX1/HtrA2-OMI/PARL (HOP) mitochondrial protein complex, anti-apoptotic signals are generated by cleavage and activation of the serine protease HtrA2/OMI by the rhomboid protease PARL upon recruitment of both proteases to inner mitochondrial membrane protein HAX1 (HS1-associated protein X-1). Here we report the negative regulation of the HOP complex by human leukemia-associated myeloid leukemia factor 1 (MLF1). We demonstrate that MLF1 physically and functionally associates with HAX1 and HtrA2. Increased interaction of MLF1 with HAX1 and HtrA2 displaces HtrA2 from the HOP complex and inhibits HtrA2 cleavage and activation, resulting in the apoptotic cell death...
April 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27943080/kostmann-s-disease-and-hcls1-associated-protein-x-1-hax1
#5
REVIEW
Christoph Klein
Severe congenital neutropenia (SCN), originally described by the Swedish pediatrician Rolf Kostmann, constitutes a heterogeneous disorder associated with a dramatic decrease of peripheral neutrophil granulocytes. Patients suffer from life-threatening bacterial infections unless treated by recombinant human granulocyte colony stimulating factor (G-CSF) or allogeneic hematopoietic stem cells. This review is focused on the SCN variant caused by mutations in HCLS1 Associated Protein X-1 (HAX1) (SCN3, "Kostmann Disease")...
February 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27654581/endoplasmic-reticulum-er-stress-triggers-hax1-dependent-mitochondrial-apoptotic-events-in-cardiac-cells
#6
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
#7
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...
September 6, 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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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