High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension.

Autor: Cogan JD, Pauciulo MW, Batchman AP, Prince MA, Robbins IM, Hedges LK, Stanton KC, Wheeler LA, Phillips JA III, Loyd JE, Nichols WC, Cogan, Joy D, Pauciulo, Michael W, Batchman, Amy P, Prince, Melissa A, Robbins, Ivan M, Hedges, Lora K, Stanton, Krista C, Wheeler, Lisa A, Phillips, John A 3rd

Publikováno v: American Journal of Respiratory & Critical Care Medicine; 2006, Vol. 174 Issue 5, p590-598, 9p

2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.

Autor: Brakta C; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France., Tabet AC; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, EU, France., Puel M; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France., Pacault M; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, EU, France., Stolzenberg MC; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, UMR 1163, Imagine Institute, INSERM, Paris, EU, France.; Inserm U1163, Imagine Institute, University of Paris Cité, Paris, Paris, EU, France., Goudet C; Pediatric Hematology Department, Timone Enfant, Assistance Publique Hôpitaux de Marseille (AP-HM), Marseille, EU, France., Merger M; Department of Internal Medicine and Clinical Immunology, University of Lille, Lille, EU, France., Reumaux H; Pediatric Rheumatology Unit, Jeanne de Flandre Hospital, University of Lille, Lille, EU, France., Lambert N; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France., Alioua N; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France., Malan V; Inserm U1163, Imagine Institute, University of Paris Cité, Paris, Paris, EU, France.; Laboratory of Genomic Medicine for Rare Diseases, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France., Hanein S; Bioinformatic Platform, Institute of Genetic Diseases, Université Paris-Cité and Structure Fédérative de Recherche Necker, INSERM UMR1163, Imagine, Paris, EU, France., Dupin-Deguine D; Medical Genetics Department, University of Toulouse, CHU Purpan, Toulouse, EU, France.; Otoneurosurgery and Pediatric ENT Department, University of Toulouse, CHU Purpan, Toulouse, EU, France., Treiner E; Faculty of Medicine, University Toulouse III Paul Sabatier, Toulouse, France.; Laboratory of Immunology, University Hospital of Toulouse, Toulouse, France.; Toulouse Institute for Infectious and Inflammatory Diseases (Infinity), Inserm UMR1291, Toulouse, EU, France., Lefèvre G; Institute for Translational Research in Inflammation (INFINITE), Inserm U1286, University of Lille, Lille, EU, France.; Laboratory of Immunology, University of Lille, Lille, EU, France., Farhat MM; Department of Internal Medicine and Clinical Immunology, University of Lille, Lille, EU, France., Luca LE; Department of Internal Medicine, Infectious and Tropical Diseases, University Hospital Center of Poitiers, Poitiers, EU, France., Hureaux M; Department of Genetics, Georges-Pompidou European Hospital, AP-HP, Paris, EU, France.; Reference Center for Hereditary Kidney Diseases in Children and Adults (MARHEA), University of Paris Cité, Paris, EU, France., Li H; Inserm U1163, Imagine Institute, University of Paris Cité, Paris, Paris, EU, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Necker Branch, Inserm U1163, Paris, EU, France., Chelloug N; Medical Genetics Department, University of Toulouse, CHU Purpan, Toulouse, EU, France., Dehak R; Department of Pediatrics, Calais Hospital, Calais, EU, France., Boussion S; Clinical Genetics Department, University of Lille, Lille, EU, France., Ouachée-Chardin M; Department of Pediatric Hematology, IHOPe, Hospices Civils de Lyon, Lyon, EU, France., Schleinitz N; Department of Internal Medicine La Timone, Aix-Marseille University, Assistance Publique - AP-HM, Marseille, EU, France., Abou Chahla W; Department of Pediatric Hematology, Jeanne de Flandre Hospital, University of Lille, Lille, EU, France., Barlogis V; Pediatric Hematology Department, Timone Enfant, Assistance Publique Hôpitaux de Marseille (AP-HM), Marseille, EU, France., Vély F; Aix Marseille Université, CNRS, Inserm, Centre d'Immunologie de Marseille-Luminy, Marseille, EU, France.; Departement of Immunology, Assistance Publique Des Hôpitaux de Marseille, Hôpital de La Timone, Marseille Immunopole, Marseille, EU, France., Oksenhendler E; Clinical Immunology Department, Saint-Louis Hospital, Paris-Diderot University, Paris, EU, France., Quartier P; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, AP-HP, Paris, EU, France.; Université Paris-Cité, Paris, EU, France., Pasquet M; Department of Pediatric Hematology and Immunology, Children's Hospital, University Hospital, Toulouse, EU, France., Suarez F; Université Paris-Cité, Paris, EU, France.; Department of Clinical Hematology, Necker Hospital for Sick Children, AP-HP, Paris, EU, France.; Centre de Référence Des Déficits Immunitaires Héréditaires (CEREDIH), Necker-Enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France., Bustamante J; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Necker Branch, Inserm U1163, Paris, EU, France.; Université Paris-Cité, Paris, EU, France.; St.Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, Rockefeller Branch, New York, NY, USA., Neven B; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, UMR 1163, Imagine Institute, INSERM, Paris, EU, France.; Inserm U1163, Imagine Institute, University of Paris Cité, Paris, Paris, EU, France.; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, AP-HP, Paris, EU, France.; Université Paris-Cité, Paris, EU, France., Picard C; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.; Université Paris-Cité, Paris, EU, France.; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Inserm U1163, Imagine Institute, Paris, EU, France.; Centre de Référence Des Déficits Immunitaires Héréditaires (CEREDIH), Necker-Enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France., Rieux-Laucat F; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, UMR 1163, Imagine Institute, INSERM, Paris, EU, France.; Inserm U1163, Imagine Institute, University of Paris Cité, Paris, Paris, EU, France., Lévy J; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, EU, France., Rosain J; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France. jeremie.rosain@institutimagine.org.; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Necker Branch, Inserm U1163, Paris, EU, France. jeremie.rosain@institutimagine.org.; Université Paris-Cité, Paris, EU, France. jeremie.rosain@institutimagine.org.; St.Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, Rockefeller Branch, New York, NY, USA. jeremie.rosain@institutimagine.org.

Publikováno v: Journal of clinical immunology [J Clin Immunol] 2024 Nov 23; Vol. 45 (1), pp. 46. Date of Electronic Publication: 2024 Nov 23.

Whole-exome sequencing identified a novel mutation of BMPR2 in a Chinese family with pulmonary arterial hypertension.

Autor: Jiao, Zi-Jun^1,2,3 (AUTHOR), Jin, Jie-Yuan^2,4 (AUTHOR), Fan, Liang-Liang^2,3 (AUTHOR), Yuan, Zhuang-Zhuang² (AUTHOR), Dong, Yi² (AUTHOR), Xiang, Rong^1,2,3,4 (AUTHOR) shirlesmile@csu.edu.cn, Bi, Dan-Dong^1,4 (AUTHOR) shirlesmile@csu.edu.cn

Publikováno v: All Life. 2021, Vol. 14 Issue 1, p874-880. 7p.

In Silico identification of angiotensin-converting enzyme inhibitory peptides from MRJP1.

Autor: Tahir, Rana Adnan^1,2 (AUTHOR), Bashir, Afsheen³ (AUTHOR), Yousaf, Muhammad Noaman³ (AUTHOR), Ahmed, Azka² (AUTHOR), Dali, Yasmine⁴ (AUTHOR), Khan, Sanaullah⁵ (AUTHOR), Sehgal, Sheikh Arslan⁶ (AUTHOR) arslansehgal@yahoo.com

Publikováno v: PLoS ONE. 2/3/2020, Vol. 15 Issue 2, p1-18. 18p.

Myopathology in congenital myopathies.

Autor: Sewry, C. A.^1,2, Wallgren-Pettersson, C.³

Publikováno v: Neuropathology & Applied Neurobiology. Feb2017, Vol. 43 Issue 1, p5-23. 19p.