Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
abridged index medicus (1) 1
alanine (1) 1
alanine - genetics (1) 1
alanine scanning (1) 1
allergy (1) 1
allergy and immunology (1) 1
amino acids (1) 1
assaying (1) 1
binding (1) 1
biological assay (1) 1
calmette-guerin infection (1) 1
candidiasis (1) 1
chronic mucocutaneous candidiasis (1) 1
clinical phenotype (1) 1
clinical-features (1) 1
coils (1) 1
combined immunodeficiency (1) 1
computer applications (1) 1
deoxyribonucleic acid--dna (1) 1
disease susceptibility (1) 1
diseases (1) 1
ex-vivo (1) 1
female (1) 1
function stat1 mutations (1) 1
fungal diseases (1) 1
fungi (1) 1
genes (1) 1
genetic predisposition to disease (1) 1
genetic research (1) 1
genetic transcription (1) 1
genetic-heterogeneity (1) 1
genomes (1) 1
host-defense (1) 1
human subjects (1) 1
humans (1) 1
ifn-gamma (1) 1
ifn-gamma immunity (1) 1
immunology (1) 1
inborn-errors (1) 1
index medicus (1) 1
infectious diseases (1) 1
interferon-gamma receptor (1) 1
interleukin-12/23 monoclonal-antibody (1) 1
kinases (1) 1
life sciences (1) 1
male (1) 1
medical colleges (1) 1
medicine, general & internal (1) 1
mendelian susceptibility (1) 1
mendelian susceptibility to mycobacterial disease (1) 1
missense mutation (1) 1
multifocal osteomyelitis (1) 1
mutagenesis (1) 1
mutants (1) 1
mutation (1) 1
mycobacterial disease (1) 1
mycobacterium infections - genetics (1) 1
mycobacterium-avium infection (1) 1
mycoses (1) 1
patients (1) 1
protein domains (1) 1
proteins (1) 1
receptor beta-1 deficiency (1) 1
reference database (1) 1
scanning (1) 1
scanning mutagenesis (1) 1
signal transduction and activator of transcription 1 (1) 1
stat1 protein (1) 1
stat1 transcription factor - genetics (1) 1
t-helper-cells (1) 1
transcription (1) 1
viral infections (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants
by Kagawa, Reiko, MD and Fujiki, Ryoji, MS and Tsumura, Miyuki, PhD and Sakata, Sonoko, MD and Nishimura, Shiho, MD and Itan, Yuval, PhD and Kong, Xiao-Fei, MD, PhD and Kato, Zenichiro, MD, PhD and Ohnishi, Hidenori, MD, PhD and Hirata, Osamu, MD, PhD and Saito, Satoshi, MD and Ikeda, Maiko, MD and El Baghdadi, Jamila, PhD and Bousfiha, Aziz, MD and Fujiwara, Kaori, MD and Oleastro, Matias, MD and Yancoski, Judith, PhD and Perez, Laura, BSc and Danielian, Silvia, PhD and Ailal, Fatima, MD and Takada, Hidetoshi, MD, PhD and Hara, Toshiro, MD, PhD and Puel, Anne, PhD and Boisson-Dupuis, Stéphanie, PhD and Bustamante, Jacinta, MD, PhD and Casanova, Jean-Laurent, MD, PhD and Ohara, Osamu, PhD and Okada, Satoshi, MD, PhD and Kobayashi, Masao, MD, PhD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 140, Issue 1, pp. 232 - 241
Background Germline heterozygous mutations in human signal transducer and activator of transcription 1 (STAT1) can cause loss of function (LOF), as in patients... 
Allergy and Immunology | alanine scanning | Signal transduction and activator of transcription 1 | chronic mucocutaneous candidiasis | Mendelian susceptibility to mycobacterial disease | reference database | FUNCTION STAT1 MUTATIONS | MYCOBACTERIAL DISEASE | IMMUNOLOGY | MULTIFOCAL OSTEOMYELITIS | INBORN-ERRORS | IFN-GAMMA IMMUNITY | COMBINED IMMUNODEFICIENCY | ALLERGY | MENDELIAN SUSCEPTIBILITY | EX-VIVO | CLINICAL PHENOTYPE | Genetic Predisposition to Disease | Alanine - genetics | Mutagenesis | Humans | Mycobacterium Infections - genetics | Protein Domains | Biological Assay | Female | Male | Mutation | STAT1 Transcription Factor - genetics | Genetic research | Mycoses | Medical colleges | Disease susceptibility | Genetic transcription | Coils | Candidiasis | Scanning | Transcription | Genes | Amino acids | Genomes | Kinases | Assaying | Proteins | Fungi | Missense mutation | Fungal diseases | Stat1 protein | Deoxyribonucleic acid--DNA | Binding | Alanine | Chronic mucocutaneous candidiasis | Scanning mutagenesis | Patients | Mutants | Diseases | Human subjects | Infectious diseases | Computer applications | Viral infections
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Revisiting Human IL-12R beta 1 Deficiency A Survey of 141 Patients From 30 Countries
by de Beaucouey, Ludovic and Samarina, Arina and Bustamante, Jacinta and Cobat, Aurelie and Boisson-Dupuis, Stephanie and Feinberg, Jacqueline and Al-Muhsen, Saleh and Janniere, Lucile and Rose, Yoann and de Suremain, Maylis and Kong, Xiao-Fei and Filipe-Santos, Orchidee and Chapgier, Ariane and Picard, Capucine and Fischer, Alain and Dogu, Figen and Ikinciogullari, Aydan and Tanir, Gonul and Al-Hajjar, Sami and Al-Jumaah, Suliman and Frayha, Husn H and Alsum, Zobaida and Al-Ajaji, Sulaiman and Alangari, Abdullah and Al-Ghonaium, Abdulaziz and Adimi, Parisa and Mansouri, Davood and Ben-Mustapha, Imen and Yancoski, Judith and Garty, Ben-Zion and Roiguez-Gallego, Carlos and Caragol, Isabel and Kutukculer, Necil and Kumararatne, Dinakantha S and Patel, Smita and Doffinger, Rainer and Exley, Anew and Jeppsson, Olle and Reichenbach, Janine and Nadal, David and Boyko, Yaryna and Pietrucha, Barbara and Anderson, Suzanne and Levin, Michael and Schandene, Liliane and Schepers, Kinda and Efira, Ane and Mascart, Francoise and Matsuoka, Masao and Sakai, Tatsunori and Siegrist, Claire-Anne and Frecerova, Klara and Blueetters-Sawatzki, Renate and Bernhoeft, Jutta and Freihorst, Joachim and Baumann, Ulrich and Richter, Darko and Haerynck, Filomeen and De Baets, Frans and Novelli, Vas and Lammas, David and Vermylen, Christiane and Tuerlinckx, David and Nieuwhof, Chris and Pac, Malgorzata and Haas, Walther H and Mueller-Fleckenstein, Ingrid and Fleckenstein, Bernhard and Levy, Jacob and Raj, Revathi and Cohen, Aileen Cleary and Lewis, David B and Holland, Steven M and Yang, Kuender D and Wang, Xiaochuan and Wang, Xiaohong and Jiang, Liping and Yang, Xiqiang and Zhu, Chaomin and Xie, Yuanyuan and Lee, Pamela Pui Wah and Chan, Koon Wing and Chen, Tong-Xin and Castro, Gabriela and Natera, Ivelisse and Codoceo, Ana and King, Alejana and Bezrodnik, Liliana and Di Giovani, Daniela and Isabel Gaillard, Maria and de Moraes-Vasconcelos, Dewton and Grumach, Anete Sevciovic and da Silva Duarte, Alberto Jose and Aldana, Ruth and Javier Espinosa-Rosales, Francisco and Bejaoui, Mohammed and Bousfiha, Ahmed Aziz and El Baghdadi, Jamila and Ozbek, Namik and Aksu, Guzide and ...
Medicine, ISSN 0025-7974, 11/2010, Volume 89, Issue 6, pp. 381 - 402
Interleukin-12 receptor beta 1 (IL-12R beta 1) deficiency is the most common form of Mendelian susceptibility to mycobacterial disease (MSMD). We undertook an... 
MEDICINE, GENERAL & INTERNAL | INTERFERON-GAMMA RECEPTOR | CALMETTE-GUERIN INFECTION | RECEPTOR BETA-1 DEFICIENCY | IFN-GAMMA | HOST-DEFENSE | GENETIC-HETEROGENEITY | MYCOBACTERIUM-AVIUM INFECTION | CLINICAL-FEATURES | INTERLEUKIN-12/23 MONOCLONAL-ANTIBODY | T-HELPER-CELLS | Life Sciences
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.