keyword
MENU ▼
Read by QxMD icon Read
search

Nemo

keyword
https://www.readbyqxmd.com/read/28932485/incontinentia-pigmenti-in-a-child-with-suspected-retinoblastoma
#1
Stephanie J Weiss, Archana Srinivasan, Michael A Klufas, Carol L Shields
BACKGROUND: Incontinentia pigmenti is a rare X-linked dominant syndrome caused by mutation in the NEMO/IKKgamma gene, and characterized by a spectrum of cutaneous, ocular, neurologic and dental abnormalities. In the eye, findings include retinal vascular non-perfusion, occasionally with traction retinal detachment, retinal fibrosis, and retinal pigment epithelium defects. These findings can resemble retinoblastoma, especially when vitreoretinal fibrosis produces leukocoria. CASE REPORT: A 2-month-old girl born full-term presented with leukocoria, suspicious for retinoblastoma...
2017: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/28931678/ikk%C3%AE-mimetic-peptides-block-the-resistance-to-apoptosis-associated-with-kshv-infection
#2
Louise C Briggs, A W Edith Chan, Christopher A Davis, Nicholas Whitelock, Hajira A Hotiana, Mehdi Baratchian, Claire Bagnéris, David L Selwood, Mary K Collins, Tracey E Barrett
Primary effusion lymphoma (PEL) is a lymphogenic disorder associated with KSHV infection. Key to the survival and proliferation of PEL is the canonical NF-kB pathway that becomes constitutively activated following overexpression of the viral oncoprotein ks-vFLIP. This arises from its capacity to form a complex with the modulatory subunit of the IKK kinase, IKKγ (or NEMO) resulting in the overproduction of proteins that promote cellular survival and prevent apoptosis; both of which are important drivers of tumourigenesis...
September 20, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28919996/mek-inhibition-and-immune-responses-in-advanced-melanoma
#3
REVIEW
Reinhard Dummer, Egle Ramelyte, Sabrina Schindler, Olaf Thürigen, Mitchell P Levesque, Peter Koelblinger
phase II and III clinical trials demonstrated modest anti- tumor activity of Binimetinib (MEK162) - a potent allosteric inhibitor of MEK1 and MEK2- in patients with advanced NRAS mutant melanoma. The analysis of the NEMO study in NRAS mutated melanoma, has shown that pre-treatment with immunotherapy improved the outcome of binimetinib therapy. We discuss this finding in the context of in vitro and in vivo effects of MEK inhibition on immuno-critical pathways and interactions.
2017: Oncoimmunology
https://www.readbyqxmd.com/read/28917830/al-awadi-raas-rothschild-syndrome-with-dental-anomalies-and-a-novel-wnt7a-mutation
#4
Piranit Nik Kantaputra, Seema Kapoor, Prashant Verma, Massupa Kaewgahya, Katsushige Kawasaki, Atsushi Ohazama, James R Ketudat Cairns
Al-Awadi-Raas-Rothschild syndrome (AARRS; OMIM 276820) is a very rare autosomal recessive limb malformation syndrome caused by WNT7A mutations. AARRS is characterized by various degrees of limb aplasia and hypoplasia. Normal intelligence and malformations of urogenital system are frequent findings. Complete loss of WNT7A function has been shown to cause AARRS, however, its partial loss leads to the milder malformation, Fuhrmann syndrome. An Indian boy affected with AARRS is reported. A novel homozygous base substitution mutation c...
September 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28878677/teuvincenone-f-suppresses-lps-induced-inflammation-and-nlrp3-inflammasome-activation-by-attenuating-nemo-ubiquitination
#5
Xibao Zhao, Debing Pu, Zizhao Zhao, Huihui Zhu, Hongrui Li, Yaping Shen, Xingjie Zhang, Ruihan Zhang, Jianzhong Shen, Weilie Xiao, Weilin Chen
Inflammation causes many diseases that are serious threats to human health. However, the molecular mechanisms underlying regulation of inflammation and inflammasome activation are not fully understood which has delayed the discovery of new anti-inflammatory drugs of urgent clinic need. Here, we found that the natural compound Teuvincenone F, which was isolated and purified from the stems and leaves of Premna szemaoensis, could significantly inhibit lipopolysaccharide (LPS)-induced pro-inflammatory cytokines production and NLRP3 inflammasome activation...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28870493/incontinentia-pigmenti-a%C3%A2-summary-review-of-this-rare-ectodermal-dysplasia-with-neurologic-manifestations-including-treatment-protocols
#6
Carol Greene-Roethke
Incontinentia pigmenti is a rare neuroectodermal dysplasia caused by a defect in the IKBKG gene (formerly known as NEMO). There are 27.6 new cases per year worldwide; 65% to 75% are sporadic mutations, and 25% to 35% are familial. It is usually lethal in males, but females survive because of X-inactivation mosaicism. The disorder is typically identified by unique skin findings, a series of four stages that emerge throughout the first year of life. The central nervous system manifestations in the eye and in the brain cause the most disability...
September 1, 2017: Journal of Pediatric Health Care
https://www.readbyqxmd.com/read/28856589/impact-of-a-mixed-educational-and-semi-restrictive-antimicrobial-stewardship-project-in-a-large-teaching-hospital-in-northern-italy
#7
Daniele Roberto Giacobbe, Valerio Del Bono, Malgorzata Mikulska, Giulia Gustinetti, Anna Marchese, Federica Mina, Alessio Signori, Andrea Orsi, Fulvio Rudello, Cristiano Alicino, Beatrice Bonalumi, Alessandra Morando, Giancarlo Icardi, Sabrina Beltramini, Claudio Viscoli, Antonio Ferrazin, Ferdinando Dodi, Norberto Morandi, Federica Toscanini, Marco Camera, Antonio Di Biagio, Giovanni Mazzarello, Anna Ida Alessandrini, Andrea De Maria, Emanuele Delfino, Laura Ambra Nicolini, Carolina Saffioti, Federica Magnè, Nemo Gandolfo
BACKGROUND: The overuse of antimicrobials favors the dissemination of antimicrobial resistance, as well as invasive fungal diseases and Clostridium difficile infections (CDI). In this study, we assessed the impact of a mixed educational and semi-restrictive antimicrobial stewardship (AMS) project in a large teaching hospital in Italy. METHODS: The AMS project was conducted from May 2014 to April 2016. It consisted of two initiatives in two consecutive periods: (1) educational activities; (2) semi-restrictive control of antimicrobial prescribing through a computerized software...
August 30, 2017: Infection
https://www.readbyqxmd.com/read/28821583/role-of-leucocytes-cell-population-data-in-the-early-detection-of-sepsis
#8
Eloísa Urrechaga, Oihane Bóveda, Urko Aguirre
AIMS: The cell population data (CPD) parameters reported by XN analyser (Sysmex, Kobe, Japan) reflect the size and internal structure of leucocytes. We aimed to assess the clinical utility of these parameters as biomarkers for the early diagnosis of sepsis. METHODS: The study group (G1) included 586 controls (no quantitative or morphological alterations in the complete blood count) and 137 patients diagnosed with sepsis. The reliability of the model was evaluated using a validation group (G2) of 212 controls and 60 patients with sepsis...
August 18, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28814200/all-atom-molecular-dynamics-comparison-of-disease-associated-zinc-fingers
#9
Ryan C Godwin, William H Gmeiner, Freddie R Salsbury
An important regulatory domain of NEMO is a ubiquitin-binding zinc finger, with a tetrahedral CYS3HIS1 zinc-coordinating binding site. Two variations of NEMO's zinc finger are implicated in various disease states including ectodermal dysplasia and adult-onset glaucoma. To discern structural and dynamical differences between these disease states, we present results of 48-$\mu s$ of molecular dynamics simulations for three zinc finger systems each in two states, with and without zinc-bound and correspondingly appropriate cysteine thiol/thiolate configurations...
August 17, 2017: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/28813403/quick-hits
#10
Leslie Nemo
No abstract text is available yet for this article.
August 15, 2017: Scientific American
https://www.readbyqxmd.com/read/28813374/change-of-heartbeat
#11
Leslie Nemo
No abstract text is available yet for this article.
August 15, 2017: Scientific American
https://www.readbyqxmd.com/read/28808806/brca1-mimetic-compound-nsc35446-hcl-inhibits-ikkb-expression-by-reducing-estrogen-receptor-%C3%AE-occupancy-in-the-ikkb-promoter-and-inhibits-nf-%C3%AE%C2%BAb-activity-in-antiestrogen-resistant-human-breast-cancer-cells
#12
Shyam Nathan, Yongxian Ma, York A Tomita, Eliseu De Oliveira, Milton L Brown, Eliot M Rosen
PURPOSE: We previously identified small molecules that fit into a BRCA1-binding pocket within estrogen receptor-alpha (ERα), mimic the ability of BRCA1 to inhibit ERα activity ("BRCA1-mimetics"), and overcome antiestrogen resistance. One such compound, the hydrochloride salt of NSC35446 ("NSC35446.HCl"), also inhibited the growth of antiestrogen-resistant LCC9 tumor xenografts. The purpose of this study was to investigate the down-stream effects of NSC35446.HCl and its mechanism of action...
August 14, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28803967/igdb-2-an-ig-fniii-protein-binds-the-ion-channel-lgc-34-and-controls-sensory-compartment-morphogenesis-in-c-elegans
#13
Wendy Wang, Elliot A Perens, Grigorios Oikonomou, Sean W Wallace, Yun Lu, Shai Shaham
Sensory organ glia surround neuronal receptive endings (NREs), forming a specialized compartment important for neuronal activity, and reminiscent of glia-ensheathed synapses in the central nervous system. We previously showed that DAF-6, a Patched-related protein, is required in glia of the C. elegans amphid sensory organ to restrict sensory compartment size. LIT-1, a Nemo-like kinase, and SNX-1, a retromer component, antagonize DAF-6 and promote compartment expansion. To further explore the machinery underlying compartment size control, we sought genes whose inactivation restores normal compartment size to daf-6 mutants...
October 1, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28799290/visualizing-correlated-motion-with-hdbscan-clustering
#14
Ryan L Melvin, Jiajie Xiao, Ryan C Godwin, Kenneth S Berenhaut, Freddie R Salsbury
Correlated motion analysis provides a method for understanding communication between and dynamic similarities of biopolymer residues and domains. The typical equal-time correlation matrices - frequently visualized with pseudo-colorings or heat maps - quickly convey large regions of highly correlated motion but hide more subtle similarities of motion. Here we propose a complementary method for visualizing correlations within proteins (or general biopolymers) that quickly conveys intuition about which residues have a similar dynamic behavior...
August 11, 2017: Protein Science: a Publication of the Protein Society
https://www.readbyqxmd.com/read/28794079/unusual-father-to-daughter-transmission-of-incontinentia-pigmenti-due-to-mosaicism-in-ip-males
#15
Francesca Fusco, Matilde Immacolata Conte, Andrea Diociauti, Stefania Bigoni, Maria Francesca Branda, Alessandra Ferlini, Maya El Hachem, Matilde Valeria Ursini
Incontinentia pigmenti (IP; Online Mendelian Inheritance in Man catalog #308300) is an X-linked dominant ectodermal disorder caused by mutations of the inhibitor of κ polypeptide gene enchancer in B cells, kinase γ (IKBKG)/ nuclear factor κB, essential modulator (NEMO) gene. Hemizygous IKBKG/NEMO loss-of-function (LoF) mutations are lethal in males, thus patients are female, and the disease is always transmitted from an IP-affected mother to her daughter. We present 2 families with father-to-daughter transmission of IP and provide for the first time molecular evidence that the combination of somatic and germ-line mosaicism for IKBKG/NEMO loss of function mutations in IP males resulted in the transmission of the disease to a female child...
September 2017: Pediatrics
https://www.readbyqxmd.com/read/28791733/incontinentia-pigmenti-in-a-male-xy-infant-with-long-term-follow-up-over-8-years
#16
Yasushi Matsuzaki, Akiko Rokunohe, Satoko Minakawa, Kazuo Nomura, Hajime Nakano, Etsuro Ito, Daisuke Sawamura
Incontinentia pigmenti (IP) is an X-linked genodermatosis affecting the skin and other sites, including the teeth, nails, hair, eyes and nervous system defects in female patients. Generally lethal in males, there are only a few known cases of males surviving this condition. Nuclear factor (NF)-κB essential modulator (NEMO), also known as inhibitor of kappa light polypeptide gene enhancer in B cells, kinase gamma (IKBKG), constitutes an essential activator of NF-κB. Over 80% of female patients with IP carry a common deletion mutation involving exons 4-10 of the IKBKG/NEMO gene...
August 9, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28702714/immunodeficiency-in-two-female-patients-with-incontinentia-pigmenti-with-heterozygous-nemo-mutation-diagnosed-by-lps-unresponsiveness
#17
Hidenori Ohnishi, Yuka Kishimoto, Tomohide Taguchi, Norio Kawamoto, Mina Nakama, Tomoki Kawai, Manabu Nakayama, Osamu Ohara, Kenji Orii, Toshiyuki Fukao
PURPOSE: Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is caused by mutations in the NF-κB essential modulator (NEMO) or NF-κB inhibitor, alpha (IKBA) genes. A heterozygous NEMO mutation causes incontinentia pigmenti (IP) in females, while a hemizygous hypomorphic mutation of NEMO causes EDA-ID in males. In general, immunodeficiency is not shown in IP patients. Here, we investigated two female patients with IP and immunodeficiency. METHODS: The patients were initially suspected to have IRAK4 deficiency and Mendelian susceptibility to mycobacterial disease, respectively, because of recurrent pneumonia with delayed umbilical cord detachment or disseminated mycobacterial infectious disease...
July 12, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28679735/hematopoietic-stem-cell-transplantation-in-29-patients-hemizygous-for-hypomorphic-ikbkg-nemo-mutations
#18
Charline Miot, Kohsuke Imai, Chihaya Imai, Anthony J Mancini, Zeynep Yesim Kucuk, Tokomki Kawai, Ryuta Nishikomori, Etsuro Ito, Isabelle Pellier, Sophie Dupuis Girod, Jeremie Rosain, Shinya Sasaki, Shanmuganathan Chandrakasan, Jana Pachlopnik Schmid, Tsubasa Okano, Estelle Colin, Alberto Olaya-Vargas, Marco Yamazaki-Nakashimada, Waseem Qasim, Sara Espinosa Padilla, Andrea Jones, Alfons Krol, Nyree Cole, Stephen Jolles, Jack Bleesing, Thomas Vraetz, Andrew R Gennery, Mario Abinun, Tayfun Güngör, Beatriz Costa-Carvalho, Antonio Condino-Neto, Paul Veys, Steven M Holland, Gulbu Uzel, Despina Moshous, Benedicte Neven, Stéphane Blanche, Stephan Ehl, Rainer Döffinger, Smita Y Patel, Anne Puel, Jacinta Bustamante, Erwin W Gelfand, Jean-Laurent Casanova, Jordan S Orange, Capucine Picard
X-linked recessive ectodermal dysplasia (EDA) with immunodeficiency (XR-EDA-ID) is a rare primary immunodeficiency (PID) caused by hypomorphic mutations of the IKBKG gene encoding the NEMO protein. This condition displays enormous allelic, immunological, and clinical heterogeneity, and therapeutic decisions are difficult because NEMO operates in both hematopoietic and non-hematopoietic cells. Hematopoietic stem cell transplantation (HSCT) is potentially life-saving, but the small number of case reports available suggests that it has been reserved for only the most severe cases...
July 5, 2017: Blood
https://www.readbyqxmd.com/read/28673044/ctenopharyngodon-idella-ikk%C3%AE-interacts-with-pkr-and-i%C3%AE%C2%BAb%C3%AE
#19
Haizhou Wang, Qun Xu, Xiaowen Xu, Yousheng Hu, Qunhao Hou, Youlin Zhu, Chengyu Hu
Inhibitor of nuclear factor kappa-B kinase β (IKKβ) is a subunit of the IKK complex. It can activate the NF-κB pathway through phosphorylating IκB in response to a wide range of stimuli. In the present study, an IKKβ gene from grass carp (Ctenopharyngodon idella; KT282114) was cloned and identified by homologous cloning and rapid-amplification of cDNA ends (RACE) technique. The complete CiIKKβ cDNA is 3428 bp in length, with the longest open reading frame (ORF) of 2337 bp encoding a polypeptide of 778 amino acids...
August 1, 2017: Acta Biochimica et Biophysica Sinica
https://www.readbyqxmd.com/read/28654673/double-hit-of-nemo-gene-in-preeclampsia
#20
Agata Sakowicz, Tadeusz Pietrucha, Magda Rybak-Krzyszkowska, Hubert Huras, Agnieszka Gach, Bartosz Sakowicz, Mateusz Banaszczyk, Mariusz Grzesiak, Lidia Biesiada
The precise etiology of preeclampsia is unknown. Family studies indicate that both genetic and environmental factors influence its development. One of these factors is NFkB, whose activation depends on NEMO (NFkB essential modulator. This is the first study to investigate the association between the existence of single nucleotide variant of the NEMO gene and the appearance of preeclampsia. A total of 151 women (72 preeclamptic women and 79 controls) and their children were examined. Sanger sequencing was performed to identify variants in the NEMO gene in the preeclamptic mothers...
2017: PloS One
keyword
keyword
10492
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"