المؤلفون: Roy A; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK. Electronic address: ashwinroy@nhs.net., Patel L; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK., Yuan M; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK., O'Shea C; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK., Alvior AMB; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK., Charalambides M; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., Moxon D; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., Baig S; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK; Department of Inherited Metabolic Disorders, Queen Elizabeth Hospital Birmingham, UK., Bunting KV; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK., Gehmlich K; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK; Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence Oxford, University of Oxford, Oxford, UK., Geberhiwot T; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK; Department of Inherited Metabolic Disorders, Queen Elizabeth Hospital Birmingham, UK., Steeds RP; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK.

المصدر: International journal of cardiology [Int J Cardiol] 2024 Aug 15; Vol. 409, pp. 132212. Date of Electronic Publication: 2024 May 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8200291 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1874-1754 (Electronic) Linking ISSN: 01675273 NLM ISO Abbreviation: Int J Cardiol Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype* , Alstrom Syndrome*/complications , Alstrom Syndrome*/genetics , Alstrom Syndrome*/physiopathology, Humans ; Male ; Female ; Adult ; Middle Aged ; Young Adult ; Adolescent ; Electrocardiography ; Echocardiography ; Cardiomyopathies/diagnostic imaging ; Cardiomyopathies/physiopathology

المؤلفون: Hu M; Department of Otorhinolaryngology Head and Neck Surgery, Tianjin First Central Hospital, Tianjin, 300192, China.; Key Laboratory of Auditory Speech and Balance Medicine, Tianjin, 300192, China.; Key Medical Discipline of Tianjin (Otolaryngology), Tianjin, 300192, China., Chen S; Department of Laboratory Medicine, School of Medical Technology, Tianjin Medical University, Tianjin, 300203, China., Wu J; Department of Ophthalmology, Tianjin First Central Hospital, Tianjin, 300192, China., Wang R; Department of Laboratory Medicine, School of Medical Technology, Tianjin Medical University, Tianjin, 300203, China. wangrong825@tmu.edu.cn.

المصدر: BMC pediatrics [BMC Pediatr] 2024 Aug 02; Vol. 24 (1), pp. 494. Date of Electronic Publication: 2024 Aug 02.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Alstrom Syndrome*/genetics , Alstrom Syndrome*/diagnosis , Exome Sequencing* , Cell Cycle Proteins*/genetics, Humans ; Male ; Adolescent ; Mutation, Missense ; Pedigree ; China ; East Asian People

المؤلفون: Roy A; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK. Electronic address: ashwinroy@nhs.net., Patel L; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK., Yuan M; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK., O'Shea C; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK., Alvior AMB; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK., Charalambides M; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., Moxon D; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK., Baig S; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK; Department of Inherited Metabolic Disorders, Queen Elizabeth Hospital Birmingham, UK., Bunting KV; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK., Gehmlich K; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK; Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence Oxford, University of Oxford, Oxford, UK., Geberhiwot T; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK; Department of Inherited Metabolic Disorders, Queen Elizabeth Hospital Birmingham, UK., Steeds RP; Institute of Cardiovascular Science, University of Birmingham, Birmingham, UK; Department of Cardiology, Queen Elizabeth Hospital, Birmingham, UK.

المصدر: International journal of cardiology [Int J Cardiol] 2024 Nov 01; Vol. 414, pp. 132437. Date of Electronic Publication: 2024 Aug 08.

نوع المنشور: Letter

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8200291 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1874-1754 (Electronic) Linking ISSN: 01675273 NLM ISO Abbreviation: Int J Cardiol Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype* , Alstrom Syndrome*/genetics , Alstrom Syndrome*/physiopathology, Humans ; Adult ; Cardiovascular Diseases/genetics

المؤلفون: Faheem MA; Medicine Department, Dow Medical College, Mission Rd, Nanak Wara Nanakwara, Karachi City, Sindh, Pakistan. Electronic address: anasfahimmm35@gmail.com., Azeem B; Medicine Department, Shaheed Mohtarma Benazir Bhutto Medical College, Liyari, Parsa city Block E, Floor 5th Flat 501 Near Police Headquarter, Garden East Karachi, Karachi, Pakistan.

المصدر: International journal of cardiology [Int J Cardiol] 2024 Nov 01; Vol. 414, pp. 132405. Date of Electronic Publication: 2024 Aug 07.

نوع المنشور: Letter

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8200291 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1874-1754 (Electronic) Linking ISSN: 01675273 NLM ISO Abbreviation: Int J Cardiol Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype* , Alstrom Syndrome*/genetics , Alstrom Syndrome*/physiopathology, Humans ; Adult ; Male ; Female ; Middle Aged ; Cardiovascular Diseases/physiopathology

المؤلفون: McKay EJ; Centre for Cardiovascular Science, University of Edinburgh, Edinburgh EH16 4TJ, UK., Luijten I; Centre for Cardiovascular Science, University of Edinburgh, Edinburgh EH16 4TJ, UK., Broadway-Stringer S; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham B15 2TT, UK., Thomson A; Centre for Cardiovascular Science, University of Edinburgh, Edinburgh EH16 4TJ, UK., Weng X; Centre for Cardiovascular Science, University of Edinburgh, Edinburgh EH16 4TJ, UK., Gehmlich K; Institute of Cardiovascular Sciences, University of Birmingham, Birmingham B15 2TT, UK.; Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence Oxford, University of Oxford, Oxford OX3 9DU, UK., Gray GA; Centre for Cardiovascular Science, University of Edinburgh, Edinburgh EH16 4TJ, UK., Semple RK; Centre for Cardiovascular Science, University of Edinburgh, Edinburgh EH16 4TJ, UK.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.

المصدر: Disease models & mechanisms [Dis Model Mech] 2024 Jun 01; Vol. 17 (6). Date of Electronic Publication: 2024 Jun 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE

مواضيع طبية MeSH: Alstrom Syndrome*/complications , Alstrom Syndrome*/genetics , Cardiomyopathies*/diagnostic imaging , Cardiomyopathies*/pathology , Cardiomyopathies*/genetics , Cardiomyopathies*/physiopathology , Echocardiography*, Animals ; Female ; Male ; Mice ; Cell Cycle Proteins/deficiency ; Cell Cycle Proteins/genetics ; Mice, Knockout ; Myocardium/pathology ; Myocardium/metabolism ; Myocytes, Cardiac/metabolism ; Myocytes, Cardiac/pathology ; Phenotype ; Sex Characteristics

المؤلفون: McKay EJ; Centre for Cardiovascular Science, University of Edinburgh, Edinburgh, UK., Luijten I; Centre for Cardiovascular Science, University of Edinburgh, Edinburgh, UK., Weng X; Centre for Cardiovascular Science, University of Edinburgh, Edinburgh, UK., Martinez de Morentin PB; The Rowett Institute, University of Aberdeen, Aberdeen, UK; School of Biomedical Sciences, Faculty of Biological Sciences, University of Leeds, Leeds, UK., De Frutos González E; The Rowett Institute, University of Aberdeen, Aberdeen, UK; Área de Fisiología Humana, Departamento de Ciencias básicas de la Salud, Facultad de ciencias de la Salud, Universidad Rey Juan Carlos, 28922 Alcorcón, Madrid, Spain., Gao Z; Institute of Molecular Medicine, University of Texas Health Sciences Center at Houston, Houston, TX 77030, USA., Kolonin MG; Institute of Molecular Medicine, University of Texas Health Sciences Center at Houston, Houston, TX 77030, USA., Heisler LK; The Rowett Institute, University of Aberdeen, Aberdeen, UK., Semple RK; Centre for Cardiovascular Science, University of Edinburgh, Edinburgh, UK; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK. Electronic address: rsemple@ed.ac.uk.

المصدر: Molecular metabolism [Mol Metab] 2024 Jun; Vol. 84, pp. 101933. Date of Electronic Publication: 2024 Apr 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier GmbH Country of Publication: Germany NLM ID: 101605730 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2212-8778 (Electronic) Linking ISSN: 22128778 NLM ISO Abbreviation: Mol Metab Subsets: MEDLINE

مواضيع طبية MeSH: Mice, Knockout* , Mesenchymal Stem Cells*/metabolism , Alstrom Syndrome*/metabolism , Alstrom Syndrome*/genetics, Animals ; Mice ; Male ; Female ; Cell Cycle Proteins/metabolism ; Cell Cycle Proteins/genetics ; Insulin Resistance ; Fatty Liver/metabolism ; Fatty Liver/genetics ; Obesity/metabolism ; Obesity/genetics ; Hyperphagia/metabolism ; Hyperphagia/genetics ; Adipose Tissue/metabolism ; Mice, Inbred C57BL ; Body Composition

المؤلفون: Xu H; Department of Radiology, China-Japan Union Hospital of Jilin University, Changchun 130033, P.R. China., Wang Z; Department of Pediatrics, China-Japan Union Hospital of Jilin University, Changchun 130033, P.R. China., Sa S; Department of Radiology, China-Japan Union Hospital of Jilin University, Changchun 130033, P.R. China., Yang Y; Department of Ultrasound, China-Japan Union Hospital of Jilin University, Changchun 130033, P.R. China., Zhang X; Department of Pediatrics, China-Japan Union Hospital of Jilin University, Changchun 130033, P.R. China. Electronic address: xiaofei@jlu.edu.cn., Li D; Center for Reproductive Medicine and Prenatal Diagnosis, The First Hospital of Jilin University, Changchun 130021, P.R. China. Electronic address: lidejun@jlu.edu.cn.

المصدر: Gene [Gene] 2024 Dec 15; Vol. 929, pp. 148827. Date of Electronic Publication: 2024 Aug 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

مواضيع طبية MeSH: Alstrom Syndrome*/genetics , Cell Cycle Proteins*/genetics , Frameshift Mutation* , Heterozygote* , Whole Genome Sequencing*/methods, Child ; Female ; Humans

المؤلفون: Li J; Department of Cardiovascular Medicine, the Sixth Medical Center, PLA General Hospital, Beijing 100853, China. gxhxxq@126.com., Gao J, Wang L, Li Y, Zhang M, Pan X, Guo X

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 May 10; Vol. 41 (5), pp. 596-600.

نوع المنشور: Journal Article; Case Reports; English Abstract

بيانات الدورية: Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print) Linking ISSN: 10039406 NLM ISO Abbreviation: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: Alstrom Syndrome*/genetics , Cell Cycle Proteins*/genetics, Humans ; Male ; Adult ; Genetic Testing ; Exome Sequencing ; Mutation ; Asian People/genetics ; East Asian People

المؤلفون: Zhang S; Department of Endocrinology and Metabolism, Peking University People's Hospital, Beijing, China., Gong S; Department of Endocrinology and Metabolism, Peking University People's Hospital, Beijing, China., Li M; Department of Endocrinology and Metabolism, Peking University People's Hospital, Beijing, China., Cai X; Department of Endocrinology and Metabolism, Peking University People's Hospital, Beijing, China., Liu W; Department of Endocrinology and Metabolism, Peking University People's Hospital, Beijing, China., Lou Y; Department of Endocrinology and Metabolism, Peking University People's Hospital, Beijing, China., Ma Y; Department of Endocrinology and Metabolism, Peking University People's Hospital, Beijing, China., Zhang X; Department of Endocrinology and Metabolism, Peking University People's Hospital, Beijing, China., Ren Q; Department of Endocrinology and Metabolism, Peking University People's Hospital, Beijing, China., Zhu Y; Department of Endocrinology and Metabolism, Peking University People's Hospital, Beijing, China., Wu J; Department of Endocrinology and Metabolism, Peking University People's Hospital, Beijing, China., Zhou L; Department of Endocrinology and Metabolism, Peking University People's Hospital, Beijing, China., Li Y; Department of Endocrinology, Beijing Friendship Hospital Pinggu Campus, Capital Medical University, Beijing, China., Zhou X; Department of Endocrinology and Metabolism, Peking University People's Hospital, Beijing, China., Han X; Department of Endocrinology and Metabolism, Peking University People's Hospital, Beijing, China., Ji L; Department of Endocrinology and Metabolism, Peking University People's Hospital, Beijing, China.

المصدر: Diabetes/metabolism research and reviews [Diabetes Metab Res Rev] 2024 May; Vol. 40 (4), pp. e3788.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 100883450 Publication Model: Print Cited Medium: Internet ISSN: 1520-7560 (Electronic) Linking ISSN: 15207552 NLM ISO Abbreviation: Diabetes Metab Res Rev Subsets: MEDLINE

مواضيع طبية MeSH: Insulin Resistance*/genetics , Diabetes Mellitus, Type 2*/genetics , Prediabetic State* , Alstrom Syndrome*/genetics , Hyperinsulinism*, Humans ; Adult ; C-Peptide ; Cell Cycle Proteins/genetics ; Obesity ; Mutation ; China/epidemiology

المؤلفون: Queiroz IC; Universidade de Brasília (UnB), Brasília, DF, Brazil., Carasek N; Universidade de Brasília (UnB), Brasília, DF, Brazil., Ferreira LCV; Universidade de Brasília (UnB), Brasília, DF, Brazil., Oliveira LAT; Universidade de Brasília (UnB), Brasília, DF, Brazil., Correia FM; Universidade de Brasília (UnB), Brasília, DF, Brazil., Elias TGA; Universidade de Brasília (UnB), Brasília, DF, Brazil., Bahmad F Jr; Universidade de Brasília (UnB), Brasília, DF, Brazil. Electronic address: fayezbjr@gmail.com.

المصدر: Brazilian journal of otorhinolaryngology [Braz J Otorhinolaryngol] 2024 May-Jun; Vol. 90 (3), pp. 101402. Date of Electronic Publication: 2024 Feb 22.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: E.N.T. Brazilian Society Country of Publication: Brazil NLM ID: 101207337 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1808-8686 (Electronic) Linking ISSN: 18088686 NLM ISO Abbreviation: Braz J Otorhinolaryngol Subsets: MEDLINE

مواضيع طبية MeSH: Alstrom Syndrome*/genetics , Cell Cycle Proteins*/genetics , Mutation* , Phenotype*, Child, Preschool ; Female ; Humans ; Male ; Infant ; Adult