Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.

Autor: Gök V; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Leblebisatan G; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Çukurova University, Adana, Türkiye., Gürlek Gökçebay D; Department of Paediatric Haematology and Oncology, Ankara Bilkent City Hospital, University of Health Sciences, Ankara, Türkiye., Güler S; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Uludağ University, Bursa, Türkiye., Doğan ME; Department of Medical Genetics, Faculty of Health Sciences, Kayseri City Hospital, Kayseri, Türkiye., Tuğ Bozdoğan S; Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Türkiye.; Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM), Cukurova University, Adana, Türkiye., Koca Yozgat A; Department of Paediatric Haematology and Oncology, Ankara Bilkent City Hospital, University of Health Sciences, Ankara, Türkiye., Özcan A; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Pekpak Şahinoğlu E; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Gaziantep University, Gaziantep, Türkiye., Tokgöz H; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Meram Faculty of Medicine, Necmettin Erbakan University, Konya, Türkiye., Çil M; Department of Paediatric Haematology and Oncology, Faculty of Health Sciences, Adana City Hospital, Adana, Türkiye., Özemri Sağ Ş; Department of Medical Genetics, Faculty of Medicine, Uludag University, Bursa, Türkiye., Yilmaz E; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Şaşmaz Hİ; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Çukurova University, Adana, Türkiye.; Department of Paediatric Bone Marrow Transplantation, Adana Acıbadem Hospital, Adana, Türkiye., Evim MS; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Uludağ University, Bursa, Türkiye., Akbayram S; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Gaziantep University, Gaziantep, Türkiye., Karadoğan M; Department of Paediatric Haematology and Oncology, Faculty of Health Sciences, Kayseri City Hospital, Kayseri, Türkiye., Mutlu FT; Department of Paediatric Haematology and Oncology, Faculty of Health Sciences, Kayseri City Hospital, Kayseri, Türkiye., Boğa İ; Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Türkiye.; Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM), Cukurova University, Adana, Türkiye., Yeter Doğan B; Department of Paediatric Genetic, Faculty of Health Sciences, Kayseri City Hospital, Kayseri, Türkiye., Yarali N; Department of Paediatric Haematology and Oncology, Faculty of Medicine, Ankara Yıldırım Beyazıt University, Ankara, Türkiye., Çalişkan Ü; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Meram Faculty of Medicine, Necmettin Erbakan University, Konya, Türkiye.; Department of Paediatric Haematology and Oncology, Faculty of Medicine, KTO Karatay University, Konya, Türkiye., Bişgin A; Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Türkiye.; Adana Genetic Diseases Diagnosis and Treatment Center (AGENTEM), Cukurova University, Adana, Türkiye., Temel ŞG; Department of Medical Genetics, Faculty of Medicine, Uludag University, Bursa, Türkiye.; Department of Histology, Faculty of Medicine, Uludağ University, Bursa, Türkiye., Proven M; Department of Haematology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Gibson K; Department of Haematology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Demir BŞ; Department of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Saraçoğlu H; Department of Medical Biochemistry, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.; Drug Application and Research Center, Erciyes University, Kayseri, Türkiye., Eken A; Department of Medical Biology, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.; Molecular Biology and Genetics Department, Genome and Stem Cell Centre (GENKOK), Gevher Nesibe Genom and Stem Cell Institution, Erciyes University, Kayseri, Türkiye., Karakükçü Ç; Department of Medical Biochemistry, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.; Drug Application and Research Center, Erciyes University, Kayseri, Türkiye., Karakükçü M; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Güneş AM; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Uludağ University, Bursa, Türkiye., Özbek NY; Department of Paediatric Haematology and Oncology, Ankara Bilkent City Hospital, University of Health Sciences, Ankara, Türkiye., Kilinç Y; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Çukurova University, Adana, Türkiye., Patiroğlu T; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Özdemir MA; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye., Roy NBA; Department of Haematology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Molecular Haematology Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Ünal E; Division of Paediatric Haematology and Oncology, Department of Paediatrics, Faculty of Medicine, Erciyes University, Kayseri, Türkiye.; Medical Point Hospital, Paediatric Haematology and Oncology Clinic, Gaziantep, Türkiye.; School of Health Sciences, Hasan Kalyoncu University, Gaziantep, Türkiye.

Publikováno v: British journal of haematology [Br J Haematol] 2024 Jul; Vol. 205 (1), pp. 236-242. Date of Electronic Publication: 2024 May 29.

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Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis.

Autor: Ogishi M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.; The David Rockefeller Graduate Program, Rockefeller University, New York, NY., Yang R; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY., Rodriguez R; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR1163, Paris, France.; Imagine Institute, University of Paris Cité, Paris, France., Golec DP; Cell Signaling and Immunity Section, Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Martin E; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR1163, Paris, France.; Imagine Institute, University of Paris Cité, Paris, France., Philippot Q; Imagine Institute, University of Paris Cité, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France., Bohlen J; Imagine Institute, University of Paris Cité, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France., Pelham SJ; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY., Arias AA; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.; Primary Immunodeficiencies Group, University of Antioquia UdeA, Medellin, Colombia.; School of Microbiology, University of Antioquia UdeA, Medellin, Colombia., Khan T; Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar., Ata M; Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar., Al Ali F; Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar., Rozenberg F; Department of Virology, Cochin Hospital, University of Paris, Paris, France., Kong XF; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY., Chrabieh M; Imagine Institute, University of Paris Cité, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France., Laine C; Imagine Institute, University of Paris Cité, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France., Lei WT; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY., Han JE; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY., Seeleuthner Y; Imagine Institute, University of Paris Cité, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France., Kaul Z; Cell Signaling and Immunity Section, Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Jouanguy E; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.; Imagine Institute, University of Paris Cité, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France., Béziat V; Imagine Institute, University of Paris Cité, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France., Youssefian L; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Philadelphia, PA.; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA., Vahidnezhad H; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Philadelphia, PA.; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA., Rao VK; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Neven B; Pediatric Immunology and Hematology Department, Necker Hospital for Sick Children Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Fieschi C; Clinical Immunology Department, Saint Louis Hospital, AP-HP Université de Paris, Paris, France.; INSERM UMR1126, Institut de Recherche Saint-Louis, Université de Paris, Paris, France., Mansouri D; Clinical Tuberculosis and Epidemiology Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Shahrooei M; Department of Microbiology and Immunology, Laboratory of Clinical Bacteriology and Mycology, KU Leuven, Leuven, Belgium., Pekcan S; Department of Pediatric Pulmonology, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey., Alkan G; Division of Pediatric Infectious Diseases, Department of Pediatrics, Selcuk University Faculty of Medicine, Konya, Turkey., Emiroğlu M; Division of Pediatric Infectious Diseases, Department of Pediatrics, Selcuk University Faculty of Medicine, Konya, Turkey., Tokgöz H; Department of Pediatric Hematology, Meram School of Medicine, Necmettin Erbakan University, Konya, Turkey., Uitto J; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Philadelphia, PA.; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA., Hauck F; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR1163, Paris, France.; Imagine Institute, University of Paris Cité, Paris, France.; Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany., Bustamante J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.; Imagine Institute, University of Paris Cité, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Abel L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.; Imagine Institute, University of Paris Cité, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France., Keles S; Division of Pediatric Allergy and Immunology, Necmettin Erbakan University, Meram Medical Faculty, Konya, Turkey., Parvaneh N; Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.; Research Center for Immunodeficiencies, Tehran University of Medical Sciences, Tehran, Iran., Marr N; Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Schwartzberg PL; Cell Signaling and Immunity Section, Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD., Latour S; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR1163, Paris, France.; Imagine Institute, University of Paris Cité, Paris, France., Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.; Imagine Institute, University of Paris Cité, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France.; Howard Hughes Medical Institute, New York, NY., Boisson-Dupuis S; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY.; Imagine Institute, University of Paris Cité, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.

Publikováno v: The Journal of experimental medicine [J Exp Med] 2023 Jan 02; Vol. 220 (1). Date of Electronic Publication: 2022 Nov 03.

The effects of severe functional mitral regurgitation on right ventricular function in patients with advanced heart failure who were on waiting list for heart transplant.

Autor: Güvendi Şengör B; Department of Cardiology, Kartal Koşuyolu High Specialization Education and Research Hospital, Istanbul, Türkiye., Bayram Z; Department of Cardiology, Kartal Koşuyolu High Specialization Education and Research Hospital, Istanbul, Türkiye., Doğan C; Department of Cardiology, Kartal Koşuyolu High Specialization Education and Research Hospital, Istanbul, Türkiye., Efe SÇ; Department of Cardiology, Kartal Koşuyolu High Specialization Education and Research Hospital, Istanbul, Türkiye., Ceren Tokgöz H; Department of Cardiology, Kartal Koşuyolu High Specialization Education and Research Hospital, Istanbul, Türkiye., Kaymaz C; Department of Cardiology, Kartal Koşuyolu High Specialization Education and Research Hospital, Istanbul, Türkiye., Kırali MK; Department of Cardiovascular Surgery, Kartal Koşuyolu High Specialization Training and Research Hospital, Istanbul, Türkiye., Özdemir N; Department of Cardiology, Kartal Koşuyolu High Specialization Education and Research Hospital, Istanbul, Türkiye.

Publikováno v: Turk gogus kalp damar cerrahisi dergisi [Turk Gogus Kalp Damar Cerrahisi Derg] 2022 Oct 31; Vol. 30 (4), pp. 506-516. Date of Electronic Publication: 2022 Oct 31 (Print Publication: 2022).