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https://www.readbyqxmd.com/read/27811147/development-of-the-autoinflammatory-disease-damage-index-addi
#1
Nienke M Ter Haar, Kim V Annink, Sulaiman M Al-Mayouf, Gayane Amaryan, Jordi Anton, Karyl S Barron, Susanne M Benseler, Paul A Brogan, Luca Cantarini, Marco Cattalini, Alexis-Virgil Cochino, Fabrizio De Benedetti, Fatma Dedeoglu, Adriana A De Jesus, Ornella Della Casa Alberighi, Erkan Demirkaya, Pavla Dolezalova, Karen L Durrant, Giovanna Fabio, Romina Gallizzi, Raphaela Goldbach-Mansky, Eric Hachulla, Veronique Hentgen, Troels Herlin, Michaël Hofer, Hal M Hoffman, Antonella Insalaco, Annette F Jansson, Tilmann Kallinich, Isabelle Koné-Paut, Anna Kozlova, Jasmin B Kuemmerle-Deschner, Helen J Lachmann, Ronald M Laxer, Alberto Martini, Susan Nielsen, Irina Nikishina, Amanda K Ombrello, Seza Ozen, Efimia Papadopoulou-Alataki, Pierre Quartier, Donato Rigante, Ricardo Russo, Anna Simon, Maria Trachana, Yosef Uziel, Angelo Ravelli, Marco Gattorno, Joost Frenkel
OBJECTIVES: Autoinflammatory diseases cause systemic inflammation that can result in damage to multiple organs. A validated instrument is essential to quantify damage in individual patients and to compare disease outcomes in clinical studies. Currently, there is no such tool. Our objective was to develop a common autoinflammatory disease damage index (ADDI) for familial Mediterranean fever, cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic fever syndrome and mevalonate kinase deficiency...
November 3, 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27708262/evaluation-of-kir3dl1-kir3ds1-polymorphism-in-beh%C3%A3-et-s-disease
#2
B Erer, M Takeuchi, D Ustek, I Tugal-Tutkun, E Seyahi, Y Özyazgan, J Duymaz-Tozkir, A Gül, D L Kastner, E F Remmers, M J Ombrello
The Behçet's disease (BD)-associated human leukocyte antigen (HLA) allele, HLA-B*51 (B*51), encodes a ligand for a pair of allelic killer immunoglobulin-like receptors (KIR) present on cytotoxic cells-KIR3DL1, which inhibits their cytotoxicity, and KIR3DS1, which activates their cytotoxic activity. We tested whether KIR-regulated mechanisms contribute to BD by testing for association of KIR3DL1/KIR3DS1 genotypes with disease in 1799 BD patients and 1710 healthy controls from Turkey, as well as in different subsets of individuals with HLA-type-defined ligands for the KIR3D receptors...
December 2016: Genes and Immunity
https://www.readbyqxmd.com/read/27559085/biallelic-hypomorphic-mutations-in-a-linear-deubiquitinase-define-otulipenia-an-early-onset-autoinflammatory-disease
#3
Qing Zhou, Xiaomin Yu, Erkan Demirkaya, Natalie Deuitch, Deborah Stone, Wanxia Li Tsai, Hye Sun Kuehn, Hongying Wang, Dan Yang, Yong Hwan Park, Amanda K Ombrello, Mary Blake, Tina Romeo, Elaine F Remmers, Jae Jin Chae, James C Mullikin, Ferhat Güzel, Joshua D Milner, Manfred Boehm, Sergio D Rosenzweig, Massimo Gadina, Steven B Welch, Seza Özen, Rezan Topaloglu, Mario Abinun, Daniel L Kastner, Ivona Aksentijevich
Systemic autoinflammatory diseases are caused by mutations in genes that function in innate immunity. Here, we report an autoinflammatory disease caused by loss-of-function mutations in OTULIN (FAM105B), encoding a deubiquitinase with linear linkage specificity. We identified two missense and one frameshift mutations in one Pakistani and two Turkish families with four affected patients. Patients presented with neonatal-onset fever, neutrophilic dermatitis/panniculitis, and failure to thrive, but without obvious primary immunodeficiency...
September 6, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27217550/a-single-endoplasmic-reticulum-aminopeptidase-1-protein-allotype-is-a-strong-risk-factor-for-beh%C3%A3-et-s-disease-in-hla-b-51-carriers
#4
Masaki Takeuchi, Michael J Ombrello, Yohei Kirino, Burak Erer, Ilknur Tugal-Tutkun, Emire Seyahi, Yilmaz Özyazgan, Norman R Watts, Ahmet Gül, Daniel L Kastner, Elaine F Remmers
INTRODUCTION: Endoplasmic reticulum aminopeptidase-1 (ERAP1) protein is highly polymorphic with numerous missense amino acid variants. We sought to determine the naturally occurring ERAP1 protein allotypes and their contribution to Behçet's disease. METHODS: Genotypes of all reported missense ERAP1 gene variants with 1000 Genomes Project EUR superpopulation frequency >1% were determined in 1900 Behçet's disease cases and 1779 controls from Turkey. ERAP1 protein allotypes and their contributions to Behçet's disease risk were determined by haplotype identification and disease association analyses...
December 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/26642243/loss-of-function-mutations-in-tnfaip3-leading-to-a20-haploinsufficiency-cause-an-early-onset-autoinflammatory-disease
#5
MULTICENTER STUDY
Qing Zhou, Hongying Wang, Daniella M Schwartz, Monique Stoffels, Yong Hwan Park, Yuan Zhang, Dan Yang, Erkan Demirkaya, Masaki Takeuchi, Wanxia Li Tsai, Jonathan J Lyons, Xiaomin Yu, Claudia Ouyang, Celeste Chen, David T Chin, Kristien Zaal, Settara C Chandrasekharappa, Eric P Hanson, Zhen Yu, James C Mullikin, Sarfaraz A Hasni, Ingrid E Wertz, Amanda K Ombrello, Deborah L Stone, Patrycja Hoffmann, Anne Jones, Beverly K Barham, Helen L Leavis, Annet van Royen-Kerkof, Cailin Sibley, Ezgi D Batu, Ahmet Gül, Richard M Siegel, Manfred Boehm, Joshua D Milner, Seza Ozen, Massimo Gadina, JaeJin Chae, Ronald M Laxer, Daniel L Kastner, Ivona Aksentijevich
Systemic autoinflammatory diseases are driven by abnormal activation of innate immunity. Herein we describe a new disease caused by high-penetrance heterozygous germline mutations in TNFAIP3, which encodes the NF-κB regulatory protein A20, in six unrelated families with early-onset systemic inflammation. The disorder resembles Behçet's disease, which is typically considered a polygenic disorder with onset in early adulthood. A20 is a potent inhibitor of the NF-κB signaling pathway. Mutant, truncated A20 proteins are likely to act through haploinsufficiency because they do not exert a dominant-negative effect in overexpression experiments...
January 2016: Nature Genetics
https://www.readbyqxmd.com/read/26598658/hla-drb1-11-and-variants-of-the-mhc-class-ii-locus-are-strong-risk-factors-for-systemic-juvenile-idiopathic-arthritis
#6
MULTICENTER STUDY
Michael J Ombrello, Elaine F Remmers, Ioanna Tachmazidou, Alexei Grom, Dirk Foell, Johannes-Peter Haas, Alberto Martini, Marco Gattorno, Seza Özen, Sampath Prahalad, Andrew S Zeft, John F Bohnsack, Elizabeth D Mellins, Norman T Ilowite, Ricardo Russo, Claudio Len, Maria Odete E Hilario, Sheila Oliveira, Rae S M Yeung, Alan Rosenberg, Lucy R Wedderburn, Jordi Anton, Tobias Schwarz, Anne Hinks, Yelda Bilginer, Jane Park, Joanna Cobb, Colleen L Satorius, Buhm Han, Elizabeth Baskin, Sara Signa, Richard H Duerr, J P Achkar, M Ilyas Kamboh, Kenneth M Kaufman, Leah C Kottyan, Dalila Pinto, Stephen W Scherer, Marta E Alarcón-Riquelme, Elisa Docampo, Xavier Estivill, Ahmet Gül, Paul I W de Bakker, Soumya Raychaudhuri, Carl D Langefeld, Susan Thompson, Eleftheria Zeggini, Wendy Thomson, Daniel L Kastner, Patricia Woo
Systemic juvenile idiopathic arthritis (sJIA) is an often severe, potentially life-threatening childhood inflammatory disease, the pathophysiology of which is poorly understood. To determine whether genetic variation within the MHC locus on chromosome 6 influences sJIA susceptibility, we performed an association study of 982 children with sJIA and 8,010 healthy control subjects from nine countries. Using meta-analysis of directly observed and imputed SNP genotypes and imputed classic HLA types, we identified the MHC locus as a bona fide susceptibility locus with effects on sJIA risk that transcended geographically defined strata...
December 29, 2015: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/26194548/distinct-transcriptome-profiles-differentiate-nonsteroidal-anti-inflammatory-drug-dependent-from-nonsteroidal-anti-inflammatory-drug-independent-food-induced-anaphylaxis
#7
Rosa Muñoz-Cano, Mariona Pascal, Joan Bartra, Cesar Picado, Antonio Valero, Do-Kyun Kim, Stephen Brooks, Michael Ombrello, Dean D Metcalfe, Juan Rivera, Ana Olivera
BACKGROUND: Lipid transfer protein (LTP), an abundant protein in fruits, vegetables, and nuts, is a common food allergen in Mediterranean areas causing diverse allergic reactions. Approximately 40% of food-related anaphylaxis induced by LTPs requires nonsteroidal anti-inflammatory drugs (NSAIDs) as a triggering cofactor. OBJECTIVE: We sought to better understand the determinants of NSAID-dependent and NSAID-independent LTP-induced anaphylaxis (LTP-A). METHODS: Selection of patients was based on a proved clinical history of NSAID-dependent or NSAID-independent anaphylaxis to LTPs, positive skin prick test response to LTPs, and serum LTP IgE...
January 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/26170422/the-effects-of-hydrodynamic-stretch-on-the-flame-propagation-enhancement-of-ethylene-by-addition-of-ozone
#8
Matthew Pinchak, Timothy Ombrello, Campbell Carter, Ephraim Gutmark, Viswanath Katta
The effect of O(3) on C(2)H(4)/synthetic-air flame propagation at sub-atmospheric pressure was investigated through detailed experiments and simulations. A Hencken burner provided an ideal platform to interrogate flame speed enhancement, producing a steady, laminar, nearly one-dimensional, minimally curved, weakly stretched, and nearly adiabatic flame that could be accurately compared with simulations. The experimental results showed enhancement of up to 7.5% in flame speed for 11 000 ppm of O(3) at stoichiometric conditions...
August 13, 2015: Philosophical Transactions. Series A, Mathematical, Physical, and Engineering Sciences
https://www.readbyqxmd.com/read/26077134/advances-in-the-genetically-complex-autoinflammatory-diseases
#9
REVIEW
Michael J Ombrello
Monogenic diseases usually demonstrate Mendelian inheritance and are caused by highly penetrant genetic variants of a single gene. In contrast, genetically complex diseases arise from a combination of multiple genetic and environmental factors. The concept of autoinflammation originally emerged from the identification of individual, activating lesions of the innate immune system as the molecular basis of the hereditary periodic fever syndromes. In addition to these rare, monogenic forms of autoinflammation, genetically complex autoinflammatory diseases like the periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, chronic recurrent multifocal osteomyelitis (CRMO), Behçet's disease, and systemic arthritis also fulfill the definition of autoinflammatory diseases-namely, the development of apparently unprovoked episodes of inflammation without identifiable exogenous triggers and in the absence of autoimmunity...
July 2015: Seminars in Immunopathology
https://www.readbyqxmd.com/read/26025129/single-amino-acid-charge-switch-defines-clinically-distinct-proline-serine-threonine-phosphatase-interacting-protein-1-pstpip1-associated-inflammatory-diseases
#10
Dirk Holzinger, Selina Kathleen Fassl, Wilco de Jager, Peter Lohse, Ute F Röhrig, Marco Gattorno, Alessia Omenetti, Sabrina Chiesa, Francesca Schena, Judith Austermann, Thomas Vogl, Douglas B Kuhns, Steven M Holland, Carlos Rodríguez-Gallego, Ricardo López-Almaraz, Juan I Arostegui, Elena Colino, Rosa Roldan, Smaragdi Fessatou, Bertrand Isidor, Sylvaine Poignant, Koichi Ito, Hans-Joerg Epple, Jonathan A Bernstein, Michael Jeng, Jennifer Frankovich, Geraldina Lionetti, Joseph A Church, Peck Y Ong, Mona LaPlant, Mario Abinun, Rod Skinner, Venetia Bigley, Ulrich J Sachs, Claas Hinze, Esther Hoppenreijs, Jan Ehrchen, Dirk Foell, Jae Jin Chae, Amanda Ombrello, Ivona Aksentijevich, Cord Sunderkoetter, Johannes Roth
BACKGROUND: Hyperzincemia and hypercalprotectinemia (Hz/Hc) is a distinct autoinflammatory entity involving extremely high serum concentrations of the proinflammatory alarmin myeloid-related protein (MRP) 8/14 (S100A8/S100A9 and calprotectin). OBJECTIVE: We sought to characterize the genetic cause and clinical spectrum of Hz/Hc. METHODS: Proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) gene sequencing was performed in 14 patients with Hz/Hc, and their clinical phenotype was compared with that of 11 patients with pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome...
November 2015: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/25988971/brief-report-cryopyrin-associated-periodic-syndrome-caused-by-a-myeloid-restricted-somatic-nlrp3-mutation
#11
Qing Zhou, Ivona Aksentijevich, Geryl M Wood, Avram D Walts, Patrycja Hoffmann, Elaine F Remmers, Daniel L Kastner, Amanda K Ombrello
OBJECTIVE: To identify the cause of disease in an adult patient presenting with recent-onset fevers, chills, urticaria, fatigue, and profound myalgia, who was found to be negative for cryopyrin-associated periodic syndrome (CAPS) NLRP3 mutations by conventional Sanger DNA sequencing. METHODS: We performed whole-exome sequencing and targeted deep sequencing using DNA from the patient's whole blood to identify a possible NLRP3 somatic mutation. We then screened for this mutation in subcloned NLRP3 amplicons from fibroblasts, buccal cells, granulocytes, negatively selected monocytes, and T and B lymphocytes and further confirmed the somatic mutation by targeted sequencing of exon 3...
September 2015: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/25760457/distinct-cutaneous-manifestations-and-cold-induced-leukocyte-activation-associated-with-plcg2-mutations
#12
Oyinade M Aderibigbe, Debra Long Priel, Chyi-Chia Richard Lee, Michael J Ombrello, Vimal H Prajapati, Marilyn G Liang, Jonathan J Lyons, Douglas B Kuhns, Edward W Cowen, Joshua D Milner
IMPORTANCE: PLCG2-associated antibody deficiency and immune dysregulation (PLAID) is a newly characterized immunodeficiency syndrome associated with distinct cutaneous features. Awareness of the cutaneous skin findings associated with PLAID may facilitate diagnosis and improve patient care. OBJECTIVES: To characterize the cutaneous manifestations of PLAID and identify potential cellular mechanisms of the disease. DESIGN, SETTING, AND PARTICIPANTS: In this retrospective analysis of patients with PLAID and PLAID-like disease evaluated at the National Institutes of Health from January 1, 2005, through December 31, 2014, patients with deletions in PLCG2 leading to PLAID and patients with PLAID-like disease for whom a PLAID mutation was not identified were studied...
June 2015: JAMA Dermatology
https://www.readbyqxmd.com/read/25405820/genetics-of-vasculitis
#13
REVIEW
Francisco David Carmona, Javier Martín, Miguel A González-Gay
PURPOSE OF REVIEW: We aim to give an overview of the recent progress in the knowledge of the genetic component of vasculitides. RECENT FINDINGS: Using a state-of-the-art imputation method to analyse the major histocompatibility complex (MHC) region, Ombrello and colleagues narrowed down the association between human leukocyte antigen (HLA)-B51 and Behçet's disease to a model of five amino acids of the HLA-B molecule involved in the binding of the antigen, the interactions with receptors on CD8 T cells and natural killer cells, and the signal peptide of HLA-B, suggesting a crucial role of the cellular cytotoxicity on this disease...
January 2015: Current Opinion in Rheumatology
https://www.readbyqxmd.com/read/24974057/genetics-genomics-and-their-relevance-to-pathology-and-therapy
#14
REVIEW
Michael J Ombrello, Keith A Sikora, Daniel L Kastner
Genetic and genomic investigations are a starting point for the study of human disease, seeking to discover causative variants relevant to disease pathophysiology. Over the past 5 years, massively parallel, high-throughput, next-generation sequencing techniques have revolutionized genetics and genomics, identifying the causes of many Mendelian diseases. The application of whole-genome sequencing and whole-exome sequencing to large populations has produced several publicly available sequence datasets that have revealed the scope of human genetic variation and have contributed to important methodological advances in the study of both common and rare genetic variants in genetically complex diseases...
April 2014: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/24821759/beh%C3%A3-et-disease-associated-mhc-class-i-residues-implicate-antigen-binding-and-regulation-of-cell-mediated-cytotoxicity
#15
Michael J Ombrello, Yohei Kirino, Paul I W de Bakker, Ahmet Gül, Daniel L Kastner, Elaine F Remmers
The HLA protein, HLA-B*51, encoded by HLA-B in MHC, is the strongest known genetic risk factor for Behçet disease (BD). Associations between BD and other factors within the MHC have been reported also, although strong regional linkage disequilibrium complicates their confident disentanglement from HLA-B*51. In the current study, we examined a combination of directly obtained and imputed MHC-region SNPs, directly obtained HLA-B locus types, and imputed classical HLA types with their corresponding polymorphic amino acid residues for association with BD in 1,190 cases and 1,257 controls...
June 17, 2014: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/24552284/early-onset-stroke-and-vasculopathy-associated-with-mutations-in-ada2
#16
Qing Zhou, Dan Yang, Amanda K Ombrello, Andrey V Zavialov, Camilo Toro, Anton V Zavialov, Deborah L Stone, Jae Jin Chae, Sergio D Rosenzweig, Kevin Bishop, Karyl S Barron, Hye Sun Kuehn, Patrycja Hoffmann, Alejandra Negro, Wanxia L Tsai, Edward W Cowen, Wuhong Pei, Joshua D Milner, Christopher Silvin, Theo Heller, David T Chin, Nicholas J Patronas, John S Barber, Chyi-Chia R Lee, Geryl M Wood, Alexander Ling, Susan J Kelly, David E Kleiner, James C Mullikin, Nancy J Ganson, Heidi H Kong, Sophie Hambleton, Fabio Candotti, Martha M Quezado, Katherine R Calvo, Hawwa Alao, Beverly K Barham, Anne Jones, James F Meschia, Bradford B Worrall, Scott E Kasner, Stephen S Rich, Raphaela Goldbach-Mansky, Mario Abinun, Elizabeth Chalom, Alisa C Gotte, Marilynn Punaro, Virginia Pascual, James W Verbsky, Troy R Torgerson, Nora G Singer, Timothy R Gershon, Seza Ozen, Omer Karadag, Thomas A Fleisher, Elaine F Remmers, Shawn M Burgess, Susan L Moir, Massimo Gadina, Raman Sood, Michael S Hershfield, Manfred Boehm, Daniel L Kastner, Ivona Aksentijevich
BACKGROUND: We observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, and systemic vasculopathy in three unrelated patients. We suspected a genetic cause because the disorder presented in early childhood. METHODS: We performed whole-exome sequencing in the initial three patients and their unaffected parents and candidate-gene sequencing in three patients with a similar phenotype, as well as two young siblings with polyarteritis nodosa and one patient with small-vessel vasculitis...
March 6, 2014: New England Journal of Medicine
https://www.readbyqxmd.com/read/23811904/spatially-resolved-measurement-of-singlet-delta-oxygen-by-radar-resonance-enhanced-multiphoton-ionization
#17
Yue Wu, Zhili Zhang, Timothy M Ombrello
Coherent microwave Rayleigh scattering (Radar) from resonance-enhanced multiphoton ionization (REMPI) was demonstrated to directly and nonintrusively measure singlet delta oxygen, O(2)(a(1)Δ(g)), with high spatial resolution. Two different approaches, photodissociation of ozone and microwave discharge plasma in an argon and oxygen flow, were utilized for O(2)(a(1)Δ(g)) generation. The d(1)Π(g)←a(1)Δ(g) (3-0) and d(1)Π(g)←a(1)Δ(g) (1-0) bands of O(2)(a(1)Δ(g)) were detected by Radar REMPI for two different flow conditions...
July 1, 2013: Optics Letters
https://www.readbyqxmd.com/read/23633568/targeted-resequencing-implicates-the-familial-mediterranean-fever-gene-mefv-and-the-toll-like-receptor-4-gene-tlr4-in-beh%C3%A3-et-disease
#18
Yohei Kirino, Qing Zhou, Yoshiaki Ishigatsubo, Nobuhisa Mizuki, Ilknur Tugal-Tutkun, Emire Seyahi, Yilmaz Özyazgan, Serdal Ugurlu, Burak Erer, Neslihan Abaci, Duran Ustek, Akira Meguro, Atsuhisa Ueda, Mitsuhiro Takeno, Hidetoshi Inoko, Michael J Ombrello, Colleen L Satorius, Baishali Maskeri, James C Mullikin, Hong-Wei Sun, Gustavo Gutierrez-Cruz, Yoonhee Kim, Alexander F Wilson, Daniel L Kastner, Ahmet Gül, Elaine F Remmers
Genome-wide association studies (GWAS) are a powerful means of identifying genes with disease-associated common variants, but they are not well-suited to detecting genes with disease-associated rare and low-frequency variants. In the current study of Behçet disease (BD), nonsynonymous variants (NSVs) identified by deep exonic resequencing of 10 genes found by GWAS (IL10, IL23R, CCR1, STAT4, KLRK1, KLRC1, KLRC2, KLRC3, KLRC4, and ERAP1) and 11 genes selected for their role in innate immunity (IL1B, IL1R1, IL1RN, NLRP3, MEFV, TNFRSF1A, PSTPIP1, CASP1, PYCARD, NOD2, and TLR4) were evaluated for BD association...
May 14, 2013: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/23291587/genome-wide-association-analysis-identifies-new-susceptibility-loci-for-beh%C3%A3-et-s-disease-and-epistasis-between-hla-b-51-and-erap1
#19
Yohei Kirino, George Bertsias, Yoshiaki Ishigatsubo, Nobuhisa Mizuki, Ilknur Tugal-Tutkun, Emire Seyahi, Yilmaz Ozyazgan, F Sevgi Sacli, Burak Erer, Hidetoshi Inoko, Zeliha Emrence, Atilla Cakar, Neslihan Abaci, Duran Ustek, Colleen Satorius, Atsuhisa Ueda, Mitsuhiro Takeno, Yoonhee Kim, Geryl M Wood, Michael J Ombrello, Akira Meguro, Ahmet Gül, Elaine F Remmers, Daniel L Kastner
Individuals with Behçet's disease suffer from episodic inflammation often affecting the orogenital mucosa, skin and eyes. To discover new susceptibility loci for Behçet's disease, we performed a genome-wide association study (GWAS) of 779,465 SNPs with imputed genotypes in 1,209 Turkish individuals with Behçet's disease and 1,278 controls. We identified new associations at CCR1, STAT4 and KLRC4. Additionally, two SNPs in ERAP1, encoding ERAP1 p.Asp575Asn and p.Arg725Gln alterations, recessively conferred disease risk...
February 2013: Nature Genetics
https://www.readbyqxmd.com/read/23000145/a-hypermorphic-missense-mutation-in-plcg2-encoding-phospholipase-c%C3%AE-2-causes-a-dominantly-inherited-autoinflammatory-disease-with-immunodeficiency
#20
Qing Zhou, Geun-Shik Lee, Jillian Brady, Shrimati Datta, Matilda Katan, Afzal Sheikh, Marta S Martins, Tom D Bunney, Brian H Santich, Susan Moir, Douglas B Kuhns, Debra A Long Priel, Amanda Ombrello, Deborah Stone, Michael J Ombrello, Javed Khan, Joshua D Milner, Daniel L Kastner, Ivona Aksentijevich
Whole-exome sequencing was performed in a family affected by dominantly inherited inflammatory disease characterized by recurrent blistering skin lesions, bronchiolitis, arthralgia, ocular inflammation, enterocolitis, absence of autoantibodies, and mild immunodeficiency. Exome data from three samples, including the affected father and daughter and unaffected mother, were filtered for the exclusion of reported variants, along with benign variants, as determined by PolyPhen-2. A total of eight transcripts were identified as possible candidate genes...
October 5, 2012: American Journal of Human Genetics
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