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Stem Cell Research, ISSN 1873-5061, 03/2019, Volume 35, p. 101393
The Cri du Chat Syndrome (CdCS) is a genetic disease resulting from variable size deletion occurring on the short arm of chromosome 5. The main clinical... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Genetic aspects | Cri-du-chat syndrome | Research | Gene expression | Stem cells
Journal Article
Stem Cell Research, ISSN 1873-5061, 10/2019, Volume 40, p. 101548
Crohn's disease is a debilitating and incurable chronic inflammatory bowel disease, affecting millions of individuals worldwide, with an increasing frequency.... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CELL & TISSUE ENGINEERING | CELL BIOLOGY | Care and treatment | Growth | Stem cells | Crohn's disease | Genetic aspects | Diagnosis | Health aspects
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 08/2017, Volume 140, Issue 2, pp. 553 - 564.e4
Gain-of-function (GOF) mutations affecting the coiled-coil domain or the DNA-binding domain of signal transducer and activator of transcription 1 cause chronic... 
signal transducer and activator of transcription 5 | IL-15 | Natural killer cells | cytotoxic activity | signal transducer and activator of transcription 1 | candidiasis | PROLIFERATION | IMMUNOLOGY | CHRONIC MUCOCUTANEOUS CANDIDIASIS | DEFICIENCY | FUNGAL-INFECTIONS | HYPER-IGE SYNDROME | GENE | ALLERGY | UNDERLIE | IL-17 IMMUNITY | CYTOTOXICITY | PRIMARY IMMUNODEFICIENCY | Gene Expression | Phosphorylation | Candidiasis, Chronic Mucocutaneous - genetics | Humans | Middle Aged | Candidiasis, Chronic Mucocutaneous - immunology | Male | STAT1 Transcription Factor - genetics | STAT5 Transcription Factor - metabolism | STAT1 Transcription Factor - metabolism | Adolescent | Killer Cells, Natural - immunology | Adult | Female | Killer Cells, Natural - drug effects | Killer Cells, Natural - metabolism | Mutation | Child | Cytokines - pharmacology | Medical colleges | Care and treatment | Killer cells | Bacterial infections | Mycoses | Genetic aspects | Genetic transcription | Analysis | Cell proliferation | Pathogenesis | Helper cells | Cytotoxicity | Stimulation | Infections | Activation | Lymphocytes T | Kinases | Proteins | Fungi | α-Interferon | Interleukin 2 | Lymphocytes | Bacteria | Stat1 protein | Deoxyribonucleic acid--DNA | Binding | Pathogens | Interleukin 2 receptors | Cytokines | Chronic mucocutaneous candidiasis | Functional analysis | Stat5 protein | Interleukin 15 | Patients | Studies | γ-Interferon | Degranulation | Interferon | Viral infections
Journal Article
Stem Cell Research, ISSN 1873-5061, 01/2020, Volume 42, p. 101660
Autosomal recessive osteopetrosis (ARO) is a rare inherited disorder leading to increased bone density with impairment in bone resorption. Among the genes... 
Journal Article
Stem Cell Research, ISSN 1873-5061, 12/2019, Volume 41, p. 101580
Fibroblasts from a patient with Aicardi Goutières Syndrome (AGS) carrying a compound heterozygous mutation in were reprogrammed into induced pluripotent stem... 
Journal Article
Stem Cell Research, ISSN 1873-5061, 12/2019, Volume 41, p. 101620
We report the generation of three isogenic iPSC clones (UNIBSi007-A, UNIBSi007-B, and UNIBSi007-C) obtained from fibroblasts of a patient with Aicardi... 
Journal Article
Stem Cell Research, ISSN 1873-5061, 12/2019, Volume 41, p. 101623
Aicardi-Goutières syndrome (AGS) is an early-onset monogenic encephalopathy characterized by intracranial calcification, leukodystrophy and cerebrospinal fluid... 
Journal Article
by F. De Benedetti and J. Anton and M. Gattorno and H. Lachmann and I. Kone-Paut and S. Ozen and J. Frenkel and A. Simon and A. Zeft and E. Ben-Chetrit and H. M. Hoffman and Y. Joubert and K. Lheritier and A. Speziale and J. Guido and Roberta Caorsi and Federica Penco and Alice Grossi and Antonella Insalaco and Maria Alessio and Giovanni Conti and Federico Marchetti and Alberto Tommasini and Silvana Martino and Romina Gallizzi and Annalisa Salis and Francesca Schena and Francesco Caroli and Alberto Martini and Gianluca Damonte and Isabella Ceccherini and Marco Gattorno and Marie-Louise Frémond and Carolina Uggenti and Lien Van Eyck and Isabelle Melki and Darragh Duffy and Vincent Bondet and Yoann Rose and Bénédicte Neven and Yanick Crow and Mathieu P. Rodero and Yvonne Kusche and Johannes Roth and Katarzyna Barczyk-Kahlert and Giovanna Ferrara and Annalisa Chiocchetti and Silvio Polizzi and Josef Vuch and Diego Vozzi and Anna Mondino and Erica Valencic and Serena Pastore and Andrea Taddio and Flavio Faletra and Umberto Dianzani and Ugo Ramenghi and Alberto Tommasini and Qing Zhou and Xiaomin Yu and Erkan Demirkaya and Natalie Deuitch and Deborah Stone and Wanxia Tsai and Amanda Ombrello and Tina Romeo and Elaine F. Remmers and JaeJin Chae and Massimo Gadina and Steven Welch and Seza Ozen and Rezan Topaloglu and Mario Abinun and Daniel L. Kastner and Ivona Aksentijevich and Donatella Vairo and Rosalba Monica Ferraro and Giulia Zani and Jessica Galli and Micaela De Simone and Marco Cattalini and Elisa Fazzi and Silvia Giliani and Ebun Omoyinmi and Ariane Standing and Dorota Rowczenio and Annette Keylock and Sonia Melo Gomes and Fiona Price-Kuehne and Sira Nanthapisal and Claire Murphy and Thomas Cullup and Lucy Jenkins and Kimberly Gilmour and Despina Eleftheriou and Helen Lachmann and Philip Hawkins and Nigel Klein and Paul Brogan and Anita Dhanrajani and ...
Pediatric Rheumatology Online Journal, 05/2017, Volume 15, Issue S1, pp. 1 - 104
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017
Abstract Background Gain-of-function (GOF) mutations affecting the coiled-coil domain or the DNA-binding domain of the Signal Transducer and Activator of... 
Allergy and Immunology
Journal Article
by De Benedetti, F and Anton, J and Gattorno, M and Lachmann, H and Kone-Paut, I and Ozen, S and Frenkel, J and Simon, A and Zeft, A and Ben-Chetrit, E and Hoffman, H. M and Joubert, Y and Lheritier, K and Speziale, A and Guido, J and Caorsi, Roberta and Penco, Federica and Grossi, Alice and Insalaco, Antonella and Alessio, Maria and Conti, Giovanni and Marchetti, Federico and Tommasini, Alberto and Martino, Silvana and Gallizzi, Romina and Salis, Annalisa and Schena, Francesca and Caroli, Francesco and Martini, Alberto and Damonte, Gianluca and Ceccherini, Isabella and Gattorno, Marco and Frémond, Marie-Louise and Uggenti, Carolina and Van Eyck, Lien and Melki, Isabelle and Duffy, Darragh and Bondet, Vincent and Rose, Yoann and Neven, Bénédicte and Crow, Yanick and Rodero, Mathieu P and Kusche, Yvonne and Roth, Johannes and Barczyk-Kahlert, Katarzyna and Ferrara, Giovanna and Chiocchetti, Annalisa and Polizzi, Silvio and Vuch, Josef and Vozzi, Diego and Mondino, Anna and Valencic, Erica and Pastore, Serena and Taddio, Andrea and Faletra, Flavio and Dianzani, Umberto and Ramenghi, Ugo and Zhou, Qing and Yu, Xiaomin and Demirkaya, Erkan and Deuitch, Natalie and Stone, Deborah and Tsai, Wanxia and Ombrello, Amanda and Romeo, Tina and Remmers, Elaine F and Chae, JaeJin and Gadina, Massimo and Welch, Steven and Ozen, Seza and Topaloglu, Rezan and Abinun, Mario and Kastner, Daniel L and Aksentijevich, Ivona and Vairo, Donatella and Ferraro, Rosalba Monica and Zani, Giulia and Galli, Jessica and De Simone, Micaela and Cattalini, Marco and Fazzi, Elisa and Giliani, Silvia and Omoyinmi, Ebun and Standing, Ariane and Rowczenio, Dorota and Keylock, Annette and Gomes, Sonia Melo and Price-Kuehne, Fiona and Nanthapisal, Sira and Murphy, Claire and Cullup, Thomas and Jenkins, Lucy and Gilmour, Kimberly and Eleftheriou, Despina and Lachmann, Helen and Hawkins, Philip and Klein, Nigel and Brogan, Paul and Dhanrajani, Anita and Chan, Mercedes and ... and On Behalf of the British Society for Paediatric and Adolescent Rheumatology and For the FMF Arthritis Vasculitis and Orphan Disease Research in Paediatric Rheumatology (FAVOR) and on behalf of ENCA and on behalf of EUROFEVER PROJECT and Working Group “Juvenile Dermatomyositis” of the German Society for Paediatric and Adolescent Rheumatology (GKJR) and Acute-JIA Study Group and ReACCh-Out Investigators and on behalf of Eurofever Registry and EPOCA Study Group and Board of the Swedish Pediatric Rheumatology Registry and GRIP study group and on behalf of PRINTO and Eurofever registry and International Childhood Arthritis Genetics (INCHARGE) Consortium and PRINTO/PRCSG and For Pediatric Rheumatology International Trials Organization (PRINTO)/Pediatric Rheumatology Collaborative Study Group (PRCSG) and on behalf of Dutch JIA patient organization and Pediatric Allergy and Immunology Unit, PGIMER, Chandigarh and ICON study group and BIKER collaborative group and Working Group of Behçet’s Disease, Pediatric Rheumatology Association of Japan (PRAJ) and CAPS and on behalf of ReACCh-Out Investigators and GENIAL Investigators, UK JSLE Study Group and Juvenile Dermatomyositis Cohort and Biomarker Study (JCDBS) and Juvenile Dermatomyositis Research Group (JDRG)
Pediatric Rheumatology, ISSN 1546-0096, 05/2017, Volume 15, Issue S1
Journal Article
Journal Article
Journal of Clinical Oncology, ISSN 0732-183X, 05/2017, Volume 35, Issue 15_suppl, pp. e12566 - e12566
Journal Article
by Lomakina, Olga and Alekseeva, Ekaterina and Valieva, Sania and Bzarova, Tatiana and Nikishina, Irina and Zholobova, Elena and Rodionovskaya, Svetlana and Kaleda, Maria and Nakagishi, Yasuo and Shimizu, Masaki and Mizuta, Mao and Yachie, Akihiro and Sugita, Yuko and Okamoto, Nami and Shabana, Kousuke and Murata, Takuji and Tamai, Hiroshi and Smith, Eve M and Yin, Peng and Jorgensen, Andrea L and Beresford, Michael W and Eleuteri, Antonio and Goilav, Beatrice and Lewandowski, Laura and Phuti, Angel and Wahezi, Dawn and Rubinstein, Tamar and Jones, Caroline and Newland, Paul and Marks, Stephen and Corkhill, Rachel and Ekdawy, Diana and Pilkington, Clarissa and Tullus, Kjell and Putterman, Chaim and Scott, Chris and Fisher, Antony C and Jorgensen, Andrea and Batu, Ezgi Deniz and Kosukcu, Can and Taskiran, Ekim and Akman, Sema and Ozturk, Kubra and Sozeri, Betul and Unsal, Erbil and Ekinci, Zelal and Bilginer, Yelda and Alikasifoglu, Mehmet and Ozen, Seza and Lythgoe, Hanna and Brunner, Hermine I and Gulati, Gaurav and Jones, Jordan T and Altaye, Mekibib and Eaton, Jamie and Difrancesco, Mark and Yeo, Joo Guan and Leong, Jingyao and Bathi, Loshinidevi D/O Thana and Arkachaisri, Thaschawee and Albani, Salvatore and Abdelrahman, Nagla and Beresford, Michael W and Leone, Valentina and Groot, Noortje and Shaikhani, D and Bultink, I. E. M and Bijl, M and Dolhain, R. J. E. M and Teng, Y. K. O and Zirkzee, E and de Leeuw, K and Fritsch-Stork, R and Kamphuis, S. S. M and Wright, Rachael D and Abdawani, Reem and Al Shaqshi, Laila and Al Zakwani, Ibrahim and Gormezano, Natali W and Kern, David and Pereira, Oriany L and Esteves, Gladys C. C and Sallum, Adriana M and Aikawa, Nadia E and Pereira, Rosa M and Silva, Clovis A and Bonfa, Eloisa and Beckmann, Jessica and Bartholomä, Nora and Venhoff, Nils and Henneke, Philipp and Salzer, Ulrich and Janda, Ales and Boteanu, Alina Lucica and Corral, Sandra Garrote and Giraldo, Alberto Sifuentes and Gámir, Mariluz Gámir and Mendoza, Antonio Zea and Adrovic, Amra and Dedeoglu, Reyhan and ... and Single Hub and Access point for paediatric Rheumatology in Europe (SHARE) and Juvenile Dermatomyositis Research Group and European Federation of Immunological Societies and UK JSLE study group supported by the National Institute of Health Research Clinical Research Network and on behalf of Juvenile Dermatomyositis Research Group (JDRG) and on behalf of PRINTO and Eurofever Project and on behalf of Italian Pediatric Rheumatology Study Group and PANLAR Pediatric Rheumatology Study Group and ICON study group and on behalf of On behalf of the UK JSLE Cohort Study and the Nordic Study Group of Pediatric Rheumatology (NoSPeR) and on behalf of PRINTO and PRCSG and on behalf of the UK Juvenile Dermatomyositis Research Group (JDRG) and BIKER collaborative group and on behalf of PANLAR Pediatric Rheumatology Study Group and GRIP study group and Juvenile Inflammatory Rheumatism (JIR) Cohort and CAPS and GRANT Medical University, Sofia 68/2015 and Drug Delivery Group and for the CARRA Registry Investigators and on behalf of PRINTO and Eurofever Registry and Juvenile Dermatomyositis Research Group (JDRG) and Nordic Study Group of Pediatric Rheumatology (NoSPeR)
Pediatric Rheumatology, ISSN 1546-0096, 05/2017, Volume 15, Issue S1
Journal Article
by Olga Lomakina and Ekaterina Alekseeva and Sania Valieva and Tatiana Bzarova and Irina Nikishina and Elena Zholobova and Svetlana Rodionovskaya and Maria Kaleda and Yasuo Nakagishi and Masaki Shimizu and Mao Mizuta and Akihiro Yachie and Yuko Sugita and Nami Okamoto and Kousuke Shabana and Takuji Murata and Hiroshi Tamai and Eve M. Smith and Peng Yin and Andrea L. Jorgensen and Michael W. Beresford and on behalf of On behalf of the UK JSLE Cohort Study and Eve M. Smith and Antonio Eleuteri and Beatrice Goilav and Laura Lewandowski and Angel Phuti and Dawn Wahezi and Tamar Rubinstein and Caroline Jones and Paul Newland and Stephen Marks and Rachel Corkhill and Diana Ekdawy and Clarissa Pilkington and Kjell Tullus and Chaim Putterman and Chris Scott and Antony C. Fisher and Michael W. Beresford and Eve M. Smith and Laura Lewandowski and Angel Phuti and Andrea Jorgensen and Chris Scott and Michael W. Beresford and Ezgi Deniz Batu and Can Kosukcu and Ekim Taskiran and Sema Akman and Kubra Ozturk and Betul Sozeri and Erbil Unsal and Zelal Ekinci and Yelda Bilginer and Mehmet Alikasifoglu and Seza Ozen and Hanna Lythgoe and Michael W. Beresford and Hermine I. Brunner and Gaurav Gulati and Jordan T. Jones and Mekibib Altaye and Jamie Eaton and Mark Difrancesco and Joo Guan Yeo and Jingyao Leong and Loshinidevi D/O Thana Bathi and Thaschawee Arkachaisri and Salvatore Albani and Nagla Abdelrahman and Michael W Beresford and Valentina Leone and UK JSLE study group supported by the National Institute of Health Research Clinical Research Network and Noortje Groot and D. Shaikhani and I. E. M. Bultink and M. Bijl and R. J. E. M. Dolhain and Y. K. O. Teng and E. Zirkzee and K. de Leeuw and R. Fritsch-Stork and S. S. M. Kamphuis and Rachael D. Wright and Eve M. Smith and Michael W. Beresford and Reem Abdawani and Laila Al Shaqshi and Ibrahim Al Zakwani and Natali W. Gormezano and David Kern and Oriany L. Pereira and Gladys C. C. Esteves and Adriana M. Sallum and Nadia E. Aikawa and Rosa M. Pereira and Clovis A. Silva and Eloisa Bonfa and Jessica Beckmann and ...
PEDIATRIC RHEUMATOLOGY, ISSN 1546-0096, 05/2017, Volume 15, Issue S1, pp. 105 - 201
Journal Article
Circulation, ISSN 0009-7322, 04/2014, Volume 129, Issue 16, pp. 1668 - 1676
Journal Article
1992, ISBN 9780854841158, Volume no. 12., xli, 162
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