Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency

Authors:	Daniel Petersheim Michel J. Massaad Saetbyul Lee Alessia Scarselli Caterina Cancrini Kunihiko Moriya Yoji Sasahara Arjan C. Lankester Morna Dorsey Daniela Di Giovanni Liliana Bezrodnik Hidenori Ohnishi Ryuta Nishikomori Kay Tanita Hirokazu Kanegane Tomohiro Morio Erwin W. Gelfand Ashish Jain Raif S. Geha

Affiliation:	1. Division of Immunology, Boston Children''s Hospital, Harvard Medical School, Boston, Mass;2. Division of Immunology and Infectious Diseases, Department of Pediatrics, Bambino Gesù Children''s Hospital, Rome, and University of Rome Tor Vergata, Rome, Italy;3. Department of Pediatrics, Tohoku University, Tohoku, Japan;4. Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands;5. Division of Allergy, Immunology, and Bone Marrow Transplantation, University of California, San Francisco, Calif;6. Immunology Service, Ricardo Gutiérrez Children''s Hospital, Buenos Aires, Argentina;g. Department of Pediatrics, Gifu University, Gifu, Japan;h. Department of Pediatrics, Kyoto University, Kyoto, Japan;i. Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan;j. Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, National Jewish Health, Denver, Colo;k. Merck Research Laboratories Boston, Boston, Mass;l. Division of Allergy, Asthma, and Immunology, Children''s Hospital of Michigan, Detroit, Mich;m. Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital, Paris Descartes University, Paris, France;n. St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY;o. Department of Pediatric Hematology and Oncology, Dr von Hauner University Children''s Hospital, Ludwig-Maximilians-Universität Munich, Munich, Germany;p. Department of Pediatrics, University of Washington School of Medicine, Seattle, Wash

Abstract:	Download high-res image (231KB) Download full-size image

Keywords:	Ectodermal dysplasia with immune deficiency NF-κB inhibitor α canonical nuclear factor κB pathway noncanonical nuclear factor κB pathway lymphorganogenesis hematopoietic stem cell transplantation AD EDA-ID Autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency DN Dominant negative FKPM Fragments per kilobase of exon per million reads GAPDH Glyceraldehyde-3-phosphate dehydrogenase HSCT Hematopoietic stem cell transplantation IκBα NF-κB inhibitor α ICAM-1 Intercellular adhesion molecule 1 IKK IκB kinase LN Lymph node LTo Lymphoid tissue organizer LTβR Lymphotoxin β receptor NF-κB Nuclear factor κ light chain enhancer of activated B cells NF-κB1 NF-κB subtype 1 NF-κB2 NF-κB subunit 2 NIK NF-κB inducing kinase PID Primary immunodeficiency disease qPCR Quantitative PCR RelB RELB proto-oncogene, NF-κB subunit RNA-Seq RNA sequencing S32 Serine 32 S36 Serine 36 SLO Secondary lymphoid organ TLR Toll-like receptor VCAM-1 Vascular cell adhesion molecule 1 WT Wild-type
本文献已被 ScienceDirect 等数据库收录！

设为首页 | 免责声明 | 关于勤云 | 加入收藏