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Academic Journal

Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family.

Subjects: Tumor Suppressor Proteins*/Tumor Suppressor Proteins*/Tumor Suppressor Proteins*/genetics ; Tuberous Sclerosis*/Tuberous Sclerosis*/Tuberous Sclerosis*/genetics ; Tuberous Sclerosis*/Tuberous Sclerosis*/Tuberous Sclerosis*/pathology

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2330. Date of Electronic Publication: 2024 Jan 24.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions.

  • Authors : Man A; Michael G. DeGroote School of Medicine, McMaster University, Hamilton, ON L8S 4L8, Canada.; Di Scipio M

Subjects: Tuberous Sclerosis*/Tuberous Sclerosis*/Tuberous Sclerosis*/diagnosis ; Tuberous Sclerosis*/Tuberous Sclerosis*/Tuberous Sclerosis*/genetics ; Tuberous Sclerosis*/Tuberous Sclerosis*/Tuberous Sclerosis*/pathology

  • Source: Genes [Genes (Basel)] 2024 Mar 04; Vol. 15 (3). Date of Electronic Publication: 2024 Mar 04.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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Academic Journal

Cerebral vascular and blood brain-barrier abnormalities in a mouse model of epilepsy and tuberous sclerosis complex.

  • Authors : Guo D; Department of Neurology and Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, Missouri, USA.; Zhang B

Subjects: Tuberous Sclerosis*/Tuberous Sclerosis*/Tuberous Sclerosis*/complications ; Tuberous Sclerosis*/Tuberous Sclerosis*/Tuberous Sclerosis*/genetics ; Epilepsy*/Epilepsy*/Epilepsy*/genetics

  • Source: Epilepsia [Epilepsia] 2024 Feb; Vol. 65 (2), pp. 483-496. Date of Electronic Publication: 2023 Dec 16.Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Renal Cell Carcinoma Associated With TSC/MTOR Genomic Alterations: An Update on its Expanding Spectrum and an Approach to Clinicopathologic Work-up.

  • Authors : Shah RB; Department of Pathology, The University of Texas Southwestern Medical Center, Dallas, TX.; Mehra R

Subjects: Carcinoma, Renal Cell*/Carcinoma, Renal Cell*/Carcinoma, Renal Cell*/genetics ; Kidney Neoplasms*/Kidney Neoplasms*/Kidney Neoplasms*/pathology ; Tuberous Sclerosis*/Tuberous Sclerosis*/Tuberous Sclerosis*/complications

  • Source: Advances in anatomic pathology [Adv Anat Pathol] 2024 Mar 01; Vol. 31 (2), pp. 105-117. Date of Electronic Publication: 2023 Oct 30.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9435676 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway.

  • Authors : Fu J; Department of Fetal Medicine and Prenatal Diagnosis, Zhujiang Hospital, Southern Medical University, Guangzhou, China.; Liang P

Subjects: Tuberous Sclerosis*/Tuberous Sclerosis*/Tuberous Sclerosis*/genetics ; Tuberous Sclerosis*/Tuberous Sclerosis*/Tuberous Sclerosis*/pathology ; Tumor Suppressor Proteins*/Tumor Suppressor Proteins*/Tumor Suppressor Proteins*/genetics

  • Source: Gene [Gene] 2024 May 30; Vol. 909, pp. 148312. Date of Electronic Publication: 2024 Feb 25.Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Sclerotic Bone Lesions as a Clue in the Diagnosis of Three Generations of Tuberous Sclerosis Complex: Case Report and Review of Literature.

  • Authors : Iznardo H; Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.; Bernal S

Subjects: Tuberous Sclerosis*/Tuberous Sclerosis*/Tuberous Sclerosis*/diagnostic imaging ; Tuberous Sclerosis*/Tuberous Sclerosis*/Tuberous Sclerosis*/genetics ; Bone Diseases*

  • Source: Pediatric neurology [Pediatr Neurol] 2023 Nov; Vol. 148, pp. 14-16. Date of Electronic Publication: 2023 Aug 03.Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

A newborn with convulsions 12 days after birth was misdiagnosed as neonatal intracranial hemorrhage: Case report.

  • Authors : Che Y; Department of Neurology, Children's Hospital of Jiangxi Province, Nanchang, China.; Zhong J

Subjects: Fetal Diseases*/Fetal Diseases*/Fetal Diseases*/diagnosis ; Tuberous Sclerosis*/Tuberous Sclerosis*/Tuberous Sclerosis*/complications; Female

  • Source: Medicine [Medicine (Baltimore)] 2023 Dec 29; Vol. 102 (52), pp. e36675.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants.

  • Authors : Blasco-Pérez L; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Universitat Autònoma de Barcelona, Barcelona, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.

Subjects: Mosaicism* ; Tuberous Sclerosis*/Tuberous Sclerosis*/Tuberous Sclerosis*/diagnosis ; Tuberous Sclerosis*/Tuberous Sclerosis*/Tuberous Sclerosis*/genetics

  • Source: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2023 Sep; Vol. 25 (9), pp. 692-701. Date of Electronic Publication: 2023 Jun 24.Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Establishment of human induced pluripotent stem cell lines, KMUGMCi006, from a patient with Tuberous sclerosis complex (TSC) bearing mosaic nonsense mutations in the Tuberous sclerosis complex 2 (TSC2) gene.

  • Authors : Ura H; Center for Clinical Genomics, Kanazawa Medical University Hospital, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan; Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, 1-1 Daigaku, Uchinada, Kahoku, Ishikawa 920-0923, Japan. Electronic address: .

Subjects: Tuberous Sclerosis*/Tuberous Sclerosis*/Tuberous Sclerosis*/genetics ; Tuberous Sclerosis*/Tuberous Sclerosis*/Tuberous Sclerosis*/pathology ; Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/pathologyTuberous Sclerosis 2

  • Source: Stem cell research [Stem Cell Res] 2023 Aug; Vol. 70, pp. 103129. Date of Electronic Publication: 2023 May 26.Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753

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Academic Journal

Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex.

  • Authors : Winden KD; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Pham TT

Subjects: Autism Spectrum Disorder*/Autism Spectrum Disorder*/Autism Spectrum Disorder*/metabolism ; Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism ; Tuberous Sclerosis*/Tuberous Sclerosis*/Tuberous Sclerosis*/metabolism

  • Source: Cell reports [Cell Rep] 2023 Aug 29; Vol. 42 (8), pp. 112838. Date of Electronic Publication: 2023 Jul 25.Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  18,424 results for ""TUBEROUS sclerosis""