المؤلفون: Wang XT; Department of Pathology, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing., Fang R; Department of Pathology, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing., He HY; Department of Pathology, School of Basic Medical Sciences, Peking University Third Hospital, Peking University Health Science Center, Beijing., Zhang W; Department of Pathology, the 971 Hospital of People's Liberation Army Navy, Qingdao., Li Q; Department of Pathology, the First People's Hospital of Changzhou, Changzhou., Sun SA; Department of Pathology, Huai'an First People's Hospital, Huai'an., Wang X; Department of Pathology, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing., Zhang RS; Department of Pathology, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing., Teng XD; Department of Pathology, the First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou., Zhou XJ; Department of Pathology, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing., Xia QY; Department of Pathology, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing., Zhao M; Department of Molecular Pathology, Ningbo Clinical Pathology Diagnosis Center, Ningbo, China., Rao Q; Department of Pathology, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing.

المصدر: The American journal of surgical pathology [Am J Surg Pathol] 2024 Jul 01; Vol. 48 (7), pp. 874-882. Date of Electronic Publication: 2024 Mar 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 7707904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-0979 (Electronic) Linking ISSN: 01475185 NLM ISO Abbreviation: Am J Surg Pathol Subsets: MEDLINE

مواضيع طبية MeSH: Hemangioblastoma*/genetics , Hemangioblastoma*/pathology , Hemangioblastoma*/chemistry , Kidney Neoplasms*/genetics , Kidney Neoplasms*/pathology , Kidney Neoplasms*/chemistry , Mutation* , Tuberous Sclerosis Complex 2 Protein*/genetics , TOR Serine-Threonine Kinases*/genetics , TOR Serine-Threonine Kinases*/metabolism, Humans ; Female ; Male ; Adult ; Middle Aged ; DNA Mutational Analysis ; Tuberous Sclerosis/genetics ; Tuberous Sclerosis/pathology ; Biomarkers, Tumor/genetics ; Biomarkers, Tumor/analysis ; Central Nervous System Neoplasms/genetics ; Central Nervous System Neoplasms/pathology ; Central Nervous System Neoplasms/chemistry ; Immunohistochemistry ; Tuberous Sclerosis Complex 1 Protein/genetics ; Aged ; Genetic Predisposition to Disease ; Adolescent ; Phenotype ; Young Adult ; Child ; High-Throughput Nucleotide Sequencing

المؤلفون: Monich AG; Universidade Federal do Paraná, Departamento de Clínica Médica, Programa de Pós-Graduação em Medicina Interna e Ciências da Saúde, Curitiba, PR, Brazil.; Hospital Universitário Evangélico Mackenzie, Serviço de Nefrologia, Curitiba, PR, Brazil., Bissler JJ; University of Tennessee, Health Science Center, Le Bonheur Children's Hospital, Department of Pediatrics, Memphis, TN, USA.; Le Bonheur Children's Hospital, Children's Foundation Research Institute, Memphis, TN, USA.; St. Jude Children's Research Hospital, Pediatric Medicine Department, Memphis, TN, USA., Barreto FC; Universidade Federal do Paraná, Departamento de Clínica Médica, Programa de Pós-Graduação em Medicina Interna e Ciências da Saúde, Curitiba, PR, Brazil.; Universidade Federal do Paraná, Departamento de Clínica Médica, Serviço de Nefrologia, Curitiba, PR, Brazil.

المصدر: Jornal brasileiro de nefrologia [J Bras Nefrol] 2024 Jul 05; Vol. 46 (3), pp. e20240013. Date of Electronic Publication: 2024 Jul 05 (Print Publication: 2024).

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Sociedade Brasileira de Nefrologia Country of Publication: Brazil NLM ID: 9426946 Publication Model: eCollection Cited Medium: Internet ISSN: 2175-8239 (Electronic) Linking ISSN: 01012800 NLM ISO Abbreviation: J Bras Nefrol Subsets: MEDLINE

مواضيع طبية MeSH: Tuberous Sclerosis*/complications , Tuberous Sclerosis*/genetics , Tuberous Sclerosis*/therapy, Humans ; Kidney Neoplasms/therapy ; Kidney Neoplasms/etiology ; MTOR Inhibitors/therapeutic use ; TOR Serine-Threonine Kinases ; Angiomyolipoma/etiology ; Angiomyolipoma/therapy ; Nephrology ; Tuberous Sclerosis Complex 1 Protein/genetics ; Carcinoma, Renal Cell/etiology ; Carcinoma, Renal Cell/therapy ; Carcinoma, Renal Cell/genetics

المؤلفون: Fu J; Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou, China., Liang P; Outpatient & Emergency Management Office, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City, Shenzhen, China., Zheng Y; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China., Xu C; Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou, China., Xiong F; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China. Electronic address: xiongfu@smu.edu.cn., Yang F; Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou, China. Electronic address: 964175870@qq.com.

المصدر: Gene [Gene] 2024 May 30; Vol. 909, pp. 148312. Date of Electronic Publication: 2024 Feb 25.

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: Tuberous Sclerosis*/genetics , Tuberous Sclerosis*/pathology , Tumor Suppressor Proteins*/genetics, Humans ; Mutation ; Phosphatidylinositol 3-Kinases/genetics ; Proto-Oncogene Proteins c-akt/genetics ; Signal Transduction/genetics ; TOR Serine-Threonine Kinases/genetics ; Tuberous Sclerosis Complex 1 Protein/genetics ; Tuberous Sclerosis Complex 2 Protein/genetics

المؤلفون: Liu C; Disivion of Surgical Oncology, Department of Surgery, Fred and Pamela Buffett Cancer Center, University of Nebraska Medical Center, Omaha, NE, USA., Lele SM; Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE, USA., Goodenberger MH; Department of Radiology, University of Nebraska Medical Center, Omaha, NE, USA., Reiser GM; Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA., Christiansen AJ; Division of Urologic Surgery, Department of Surgery, University of Nebraska Medical Center, Omaha, NE, USA., Padussis JC; Disivion of Surgical Oncology, Department of Surgery, Fred and Pamela Buffett Cancer Center, University of Nebraska Medical Center, Omaha, NE, USA. james.padussis@unmc.edu.

المصدر: BMC medical genomics [BMC Med Genomics] 2024 May 27; Vol. 17 (1), pp. 144. Date of Electronic Publication: 2024 May 27.

نوع المنشور: Case Reports; Journal Article; Review

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794 (Electronic) Linking ISSN: 17558794 NLM ISO Abbreviation: BMC Med Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Tuberous Sclerosis*/genetics , Tuberous Sclerosis*/complications , Tuberous Sclerosis*/diagnosis , Kidney Neoplasms*/genetics , Kidney Neoplasms*/diagnosis , Kidney Neoplasms*/complications , Kidney Neoplasms*/pathology, Humans ; Female ; Adult ; Carcinoma, Renal Cell/genetics ; Carcinoma, Renal Cell/complications ; Tuberous Sclerosis Complex 2 Protein/genetics ; Tuberous Sclerosis Complex 1 Protein/genetics ; Mutation

المؤلفون: Ryu SW; 3billion, Inc, Seoul, South Korea., Yoon JH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Kim DW; 3billion, Inc, Seoul, South Korea., Han B; 3billion, Inc, Seoul, South Korea., Han H; 3billion, Inc, Seoul, South Korea., Han J; 3billion, Inc, Seoul, South Korea., Lee H; 3billion, Inc, Seoul, South Korea., Seo GH; 3billion, Inc, Seoul, South Korea., Lee BH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2330. Date of Electronic Publication: 2024 Jan 24.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Tumor Suppressor Proteins*/genetics , Tuberous Sclerosis*/genetics , Tuberous Sclerosis*/pathology, Humans ; Tuberous Sclerosis Complex 1 Protein/genetics ; Tuberous Sclerosis Complex 2 Protein/genetics ; Mutation ; Chromosomes, Human, Pair 9 ; Republic of Korea

المؤلفون: Barone S; Research Services, New Mexico Veterans Health Care System, Albuquerque, NM 87108, USA.; Department of Medicine, Division of Nephrology, University of New Mexico Health Sciences Center, Albuquerque, NM 87131, USA., Zahedi K; Research Services, New Mexico Veterans Health Care System, Albuquerque, NM 87108, USA.; Department of Medicine, Division of Nephrology, University of New Mexico Health Sciences Center, Albuquerque, NM 87131, USA., Brooks M; Research Services, New Mexico Veterans Health Care System, Albuquerque, NM 87108, USA.; Department of Medicine, Division of Nephrology, University of New Mexico Health Sciences Center, Albuquerque, NM 87131, USA., Soleimani M; Research Services, New Mexico Veterans Health Care System, Albuquerque, NM 87108, USA.; Department of Medicine, Division of Nephrology, University of New Mexico Health Sciences Center, Albuquerque, NM 87131, USA.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Apr 27; Vol. 25 (9). Date of Electronic Publication: 2024 Apr 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Carbonic Anhydrase II*/genetics , Carbonic Anhydrase II*/metabolism , Forkhead Transcription Factors*/genetics , Forkhead Transcription Factors*/metabolism , Kidney Diseases, Cystic*/genetics , Kidney Diseases, Cystic*/pathology , Kidney Diseases, Cystic*/metabolism , Tuberous Sclerosis*/genetics , Tuberous Sclerosis*/pathology , Tuberous Sclerosis*/metabolism, Animals ; Mice ; Gene Deletion ; Kidney/pathology ; Kidney/metabolism ; Mice, Knockout ; Tuberous Sclerosis Complex 1 Protein/genetics ; Tuberous Sclerosis Complex 1 Protein/metabolism

المؤلفون: Almuqbil M; From the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia., Aldoohan W; From the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia., Alhinti S; From the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia., Almahmoud N; From the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia., Abdulmajeed I; From the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia., Alkhodair R; From the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia., Kashgari A; From the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia., Baarmah D; From the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia., Altwaijri W; From the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia., Alrumayyan A; From the College of Medicine (Almuqbil, Aldoohan, Alhinti, Alkhodair, Kashgari, Altwaijri, Alrumayyan), King Saud bin Abdulaziz University for Health Sciences, from King Abdullah International Medical Research Center (Almuqbil, Alkhodair), Ministry of National Guard, from the Division of Pediatric Neurology (Almuqbil Altwaijri, Alrumayyan), Department of Pediatrics, King Abdullah Specialized Children's Hospital, National Guard Health Affairs, from the Department of Family Medicine and Primary Health Care (Abdulmajeed), King Abdulaziz Medical City, from the Division of Pediatric Dermatology (Alkhodair), Department of Pediatrics, King Abdullah Specialized Children's Hospital (KASCH), National Guard Health Affairs, and from Department of Pediatric (Baarmah), King Abdullah Bin Abdulaziz University Hospital, Princess Nourah bint Abdulrahman University, Riyadh, Kingdom of Saudi Arabia.

المصدر: Neurosciences (Riyadh, Saudi Arabia) [Neurosciences (Riyadh)] 2024 May; Vol. 29 (2), pp. 113-121.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Armed Forces Hospital Country of Publication: Saudi Arabia NLM ID: 101252453 Publication Model: Print Cited Medium: Internet ISSN: 1319-6138 (Print) Linking ISSN: 13196138 NLM ISO Abbreviation: Neurosciences (Riyadh) Subsets: MEDLINE

مواضيع طبية MeSH: Tuberous Sclerosis*/epidemiology , Tuberous Sclerosis*/complications , Tuberous Sclerosis Complex 2 Protein*/genetics, Humans ; Saudi Arabia/epidemiology ; Female ; Male ; Child, Preschool ; Child ; Retrospective Studies ; Infant ; Adolescent ; Tuberous Sclerosis Complex 1 Protein/genetics ; Tumor Suppressor Proteins/genetics ; Epilepsy/epidemiology ; Epilepsy/etiology ; Prevalence

المؤلفون: Karalis V; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA., Wood D; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA.; Human Neuron Core, Boston Children's Hospital, Boston, MA, 02115, USA., Teaney NA; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA., Sahin M; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA. Mustafa.sahin@childrens.harvard.edu.; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA. Mustafa.sahin@childrens.harvard.edu.; Human Neuron Core, Boston Children's Hospital, Boston, MA, 02115, USA. Mustafa.sahin@childrens.harvard.edu.

المصدر: Molecular psychiatry [Mol Psychiatry] 2024 Apr; Vol. 29 (4), pp. 1165-1178. Date of Electronic Publication: 2024 Jan 11.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: Axons*/metabolism , Neurons*/metabolism , Tuberous Sclerosis Complex 1 Protein*/metabolism , Tuberous Sclerosis Complex 1 Protein*/genetics , Tuberous Sclerosis Complex 2 Protein*/metabolism , Tuberous Sclerosis Complex 2 Protein*/genetics, Animals ; Humans ; Mutation ; Signal Transduction/physiology ; TOR Serine-Threonine Kinases/metabolism ; Tuberous Sclerosis/metabolism ; Tumor Suppressor Proteins/metabolism

المؤلفون: Man A; Michael G. DeGroote School of Medicine, McMaster University, Hamilton, ON L8S 4L8, Canada., Di Scipio M; Michael G. DeGroote School of Medicine, McMaster University, Hamilton, ON L8S 4L8, Canada., Grewal S; Michael G. DeGroote School of Medicine, McMaster University, Hamilton, ON L8S 4L8, Canada., Suk Y; Michael G. DeGroote School of Medicine, McMaster University, Hamilton, ON L8S 4L8, Canada., Trinari E; Division of Developmental Pediatrics, Department of Pediatrics, McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada., Ejaz R; Division of Genetics, Department of Pediatrics, McMaster University, Hamilton, ON L8S 4L8, Canada., Whitney R; Division of Neurology, Department of Pediatrics, McMaster University, Hamilton, ON L8S 4L8, Canada.

المصدر: Genes [Genes (Basel)] 2024 Mar 04; Vol. 15 (3). Date of Electronic Publication: 2024 Mar 04.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

مواضيع طبية MeSH: Tuberous Sclerosis*/diagnosis , Tuberous Sclerosis*/genetics , Tuberous Sclerosis*/pathology, Humans ; Tuberous Sclerosis Complex 2 Protein/genetics ; Mutation ; Genetic Testing ; TOR Serine-Threonine Kinases/genetics ; TOR Serine-Threonine Kinases/metabolism

المؤلفون: Alassiri AH; From the College of Medicine (Alassiri, Alfayea), King Saud bin Abdulaziz University for Health Sciences, from the Department of Pathology and Laboratory Medicine (Alassiri), Department of Oncology (Alfayea), Department of Surgery (Aljared), Department of Medical Imaging (Alenezi), King Abdulaziz Medical City, and from the King Abdullah International Medical Research Center (Alassiri, Alfayea), Riyadh, Kingdom of Saudi Arabia., Alfayea TM; From the College of Medicine (Alassiri, Alfayea), King Saud bin Abdulaziz University for Health Sciences, from the Department of Pathology and Laboratory Medicine (Alassiri), Department of Oncology (Alfayea), Department of Surgery (Aljared), Department of Medical Imaging (Alenezi), King Abdulaziz Medical City, and from the King Abdullah International Medical Research Center (Alassiri, Alfayea), Riyadh, Kingdom of Saudi Arabia., Aljared TI; From the College of Medicine (Alassiri, Alfayea), King Saud bin Abdulaziz University for Health Sciences, from the Department of Pathology and Laboratory Medicine (Alassiri), Department of Oncology (Alfayea), Department of Surgery (Aljared), Department of Medical Imaging (Alenezi), King Abdulaziz Medical City, and from the King Abdullah International Medical Research Center (Alassiri, Alfayea), Riyadh, Kingdom of Saudi Arabia., Alenezi KR; From the College of Medicine (Alassiri, Alfayea), King Saud bin Abdulaziz University for Health Sciences, from the Department of Pathology and Laboratory Medicine (Alassiri), Department of Oncology (Alfayea), Department of Surgery (Aljared), Department of Medical Imaging (Alenezi), King Abdulaziz Medical City, and from the King Abdullah International Medical Research Center (Alassiri, Alfayea), Riyadh, Kingdom of Saudi Arabia.

المصدر: Neurosciences (Riyadh, Saudi Arabia) [Neurosciences (Riyadh)] 2024 May; Vol. 29 (2), pp. 139-143.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Armed Forces Hospital Country of Publication: Saudi Arabia NLM ID: 101252453 Publication Model: Print Cited Medium: Internet ISSN: 1319-6138 (Print) Linking ISSN: 13196138 NLM ISO Abbreviation: Neurosciences (Riyadh) Subsets: MEDLINE

مواضيع طبية MeSH: Astrocytoma*/genetics , Astrocytoma*/diagnostic imaging , Astrocytoma*/pathology , Tuberous Sclerosis Complex 2 Protein*/genetics , Mutation*, Humans ; Female ; Adolescent ; Brain Neoplasms/genetics ; Brain Neoplasms/diagnostic imaging ; Brain Neoplasms/pathology ; Tuberous Sclerosis/genetics ; Tuberous Sclerosis/diagnostic imaging ; Tuberous Sclerosis/complications