Giant Renal Angiomyolipomas and Pulmonary Lymphangioleiomyomatosis: Follow-up Report after More than a Decade
Saudi J Kidney Dis Transpl. 2023 Nov 1;34(6):671-675. doi: 10.4103/sjkdt.sjkdt_324_21. Epub 2024 May 9.ABSTRACTRenal angiomyolipomas (AMLs) and pulmonary lymphangioleiomyomatosis (LAM) are two major presentations of tuberous sclerosis (TS), an autosomal dominant multisystem disorder. Renal AMLs can lead to life-threatening complications like hemorrhage and cause progressive renal failure requiring dialysis and kidney transplant. mTOR inhibitors showed promising results in TS patients with renal AMLs, LAM, and subependymal giant cell astrocytomas. This case report is a follow-up of a patient we reported in 2010 with giant A...
Source: Saudi Journal of Kidney Diseases and Transplantation - May 10, 2024 Category: Urology & Nephrology Authors: Kiran Nasir Aasim Ahmad Source Type: research
Giant Renal Angiomyolipomas and Pulmonary Lymphangioleiomyomatosis: Follow-up Report after More than a Decade
Saudi J Kidney Dis Transpl. 2023 Nov 1;34(6):671-675. doi: 10.4103/sjkdt.sjkdt_324_21. Epub 2024 May 9.ABSTRACTRenal angiomyolipomas (AMLs) and pulmonary lymphangioleiomyomatosis (LAM) are two major presentations of tuberous sclerosis (TS), an autosomal dominant multisystem disorder. Renal AMLs can lead to life-threatening complications like hemorrhage and cause progressive renal failure requiring dialysis and kidney transplant. mTOR inhibitors showed promising results in TS patients with renal AMLs, LAM, and subependymal giant cell astrocytomas. This case report is a follow-up of a patient we reported in 2010 with giant A...
Source: Saudi Journal of Kidney Diseases and Transplantation - May 10, 2024 Category: Urology & Nephrology Authors: Kiran Nasir Aasim Ahmad Source Type: research
Giant Renal Angiomyolipomas and Pulmonary Lymphangioleiomyomatosis: Follow-up Report after More than a Decade
Saudi J Kidney Dis Transpl. 2023 Nov 1;34(6):671-675. doi: 10.4103/sjkdt.sjkdt_324_21. Epub 2024 May 9.ABSTRACTRenal angiomyolipomas (AMLs) and pulmonary lymphangioleiomyomatosis (LAM) are two major presentations of tuberous sclerosis (TS), an autosomal dominant multisystem disorder. Renal AMLs can lead to life-threatening complications like hemorrhage and cause progressive renal failure requiring dialysis and kidney transplant. mTOR inhibitors showed promising results in TS patients with renal AMLs, LAM, and subependymal giant cell astrocytomas. This case report is a follow-up of a patient we reported in 2010 with giant A...
Source: Saudi Journal of Kidney Diseases and Transplantation - May 10, 2024 Category: Urology & Nephrology Authors: Kiran Nasir Aasim Ahmad Source Type: research
Giant Renal Angiomyolipomas and Pulmonary Lymphangioleiomyomatosis: Follow-up Report after More than a Decade
Saudi J Kidney Dis Transpl. 2023 Nov 1;34(6):671-675. doi: 10.4103/sjkdt.sjkdt_324_21. Epub 2024 May 9.ABSTRACTRenal angiomyolipomas (AMLs) and pulmonary lymphangioleiomyomatosis (LAM) are two major presentations of tuberous sclerosis (TS), an autosomal dominant multisystem disorder. Renal AMLs can lead to life-threatening complications like hemorrhage and cause progressive renal failure requiring dialysis and kidney transplant. mTOR inhibitors showed promising results in TS patients with renal AMLs, LAM, and subependymal giant cell astrocytomas. This case report is a follow-up of a patient we reported in 2010 with giant A...
Source: Saudi Journal of Kidney Diseases and Transplantation - May 10, 2024 Category: Urology & Nephrology Authors: Kiran Nasir Aasim Ahmad Source Type: research
Giant Renal Angiomyolipomas and Pulmonary Lymphangioleiomyomatosis: Follow-up Report after More than a Decade
Saudi J Kidney Dis Transpl. 2023 Nov 1;34(6):671-675. doi: 10.4103/sjkdt.sjkdt_324_21. Epub 2024 May 9.ABSTRACTRenal angiomyolipomas (AMLs) and pulmonary lymphangioleiomyomatosis (LAM) are two major presentations of tuberous sclerosis (TS), an autosomal dominant multisystem disorder. Renal AMLs can lead to life-threatening complications like hemorrhage and cause progressive renal failure requiring dialysis and kidney transplant. mTOR inhibitors showed promising results in TS patients with renal AMLs, LAM, and subependymal giant cell astrocytomas. This case report is a follow-up of a patient we reported in 2010 with giant A...
Source: Saudi Journal of Kidney Diseases and Transplantation - May 10, 2024 Category: Urology & Nephrology Authors: Kiran Nasir Aasim Ahmad Source Type: research
Giant Renal Angiomyolipomas and Pulmonary Lymphangioleiomyomatosis: Follow-up Report after More than a Decade
Saudi J Kidney Dis Transpl. 2023 Nov 1;34(6):671-675. doi: 10.4103/sjkdt.sjkdt_324_21. Epub 2024 May 9.ABSTRACTRenal angiomyolipomas (AMLs) and pulmonary lymphangioleiomyomatosis (LAM) are two major presentations of tuberous sclerosis (TS), an autosomal dominant multisystem disorder. Renal AMLs can lead to life-threatening complications like hemorrhage and cause progressive renal failure requiring dialysis and kidney transplant. mTOR inhibitors showed promising results in TS patients with renal AMLs, LAM, and subependymal giant cell astrocytomas. This case report is a follow-up of a patient we reported in 2010 with giant A...
Source: Saudi Journal of Kidney Diseases and Transplantation - May 10, 2024 Category: Urology & Nephrology Authors: Kiran Nasir Aasim Ahmad Source Type: research
Impaired GABAergic regulation and developmental immaturity in interneurons derived from the medial ganglionic eminence in the tuberous sclerosis complex
AbstractGABAergic interneurons play a critical role in maintaining neural circuit balance, excitation –inhibition regulation, and cognitive function modulation. In tuberous sclerosis complex (TSC), GABAergic neuron dysfunction contributes to disrupted network activity and associated neurological symptoms, assumingly in a cell type-specific manner. This GABAergic centric study focuses on identifyin g specific interneuron subpopulations within TSC, emphasizing the unique characteristics of medial ganglionic eminence (MGE)- and caudal ganglionic eminence (CGE)-derived interneurons. Using single-nuclei RNA sequencing in TSC ...
Source: Acta Neuropathologica - May 7, 2024 Category: Neurology Source Type: research
Germline findings in cancer predisposing genes from a small cohort of chordoma patients
CONCLUSION: We report here a chordoma cohort of 24 families with newly found germline genetic mutations in cancer predisposing genes. We discuss implications for genetic counseling, clinical management, and universal germline genetic testing for cancer patients with solid tumors.PMID:38700789 | DOI:10.1007/s00432-024-05706-5 (Source: Clin Med Res)
Source: Clin Med Res - May 3, 2024 Category: Research Authors: Margarita Raygada Liny John Anne Liu Julianne Schultz B J Thomas Donna Bernstein Markku Miettinen Mark Raffeld Liqiang Xi Manoj Tyagi Kenneth Aldape John Glod Karlyne M Reilly Brigitte C Widemann Mary Frances Wedekind Source Type: research
Germline findings in cancer predisposing genes from a small cohort of chordoma patients
CONCLUSION: We report here a chordoma cohort of 24 families with newly found germline genetic mutations in cancer predisposing genes. We discuss implications for genetic counseling, clinical management, and universal germline genetic testing for cancer patients with solid tumors.PMID:38700789 | DOI:10.1007/s00432-024-05706-5 (Source: Clin Med Res)
Source: Clin Med Res - May 3, 2024 Category: Research Authors: Margarita Raygada Liny John Anne Liu Julianne Schultz B J Thomas Donna Bernstein Markku Miettinen Mark Raffeld Liqiang Xi Manoj Tyagi Kenneth Aldape John Glod Karlyne M Reilly Brigitte C Widemann Mary Frances Wedekind Source Type: research
Germline findings in cancer predisposing genes from a small cohort of chordoma patients
ConclusionWe report here a chordoma cohort of 24 families with newly found germline genetic mutations in cancer predisposing genes. We discuss implications for genetic counseling, clinical management, and universal germline genetic testing for cancer patients with solid tumors. (Source: Journal of Cancer Research and Clinical Oncology)
Source: Journal of Cancer Research and Clinical Oncology - May 3, 2024 Category: Cancer & Oncology Source Type: research
Molecular Mechanisms and Roles of MiR-136-5p in Human Cancer and Other Disorders
CONCLUSION: The current review aims to elucidate the role of miR-136-5p in both cancer progression and non-cancerous disorders, emphasizing dysregulated signaling pathways. It also sheds light on the potential of this miRNA as a prognostic biomarker in cancer, offering valuable insights and directions for future research.PMID:38685774 | DOI:10.2174/0109298673283936240215110627 (Source: Current Medicinal Chemistry)
Source: Current Medicinal Chemistry - April 30, 2024 Category: Chemistry Authors: Xiaoling Chen Ting Lu Ying Zheng Zhiyong Lin Chaoqi Liu Ding Yuan Chengfu Yuan Source Type: research
Corrigendum to "A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K_AKT_mTOR signaling pathway" [GENE909 (2024) 148312/D-23-04187]
Gene. 2024 Apr 28;919:148481. doi: 10.1016/j.gene.2024.148481. Online ahead of print.NO ABSTRACTPMID:38685184 | DOI:10.1016/j.gene.2024.148481 (Source: Gene)
Source: Gene - April 30, 2024 Category: Genetics & Stem Cells Authors: Jiahui Fu Peili Liang Yingchun Zheng Cailing Xu Fu Xiong Fang Yang Source Type: research
Molecular Mechanisms and Roles of MiR-136-5p in Human Cancer and Other Disorders
CONCLUSION: The current review aims to elucidate the role of miR-136-5p in both cancer progression and non-cancerous disorders, emphasizing dysregulated signaling pathways. It also sheds light on the potential of this miRNA as a prognostic biomarker in cancer, offering valuable insights and directions for future research.PMID:38685774 | DOI:10.2174/0109298673283936240215110627 (Source: Current Medicinal Chemistry)
Source: Current Medicinal Chemistry - April 30, 2024 Category: Chemistry Authors: Xiaoling Chen Ting Lu Ying Zheng Zhiyong Lin Chaoqi Liu Ding Yuan Chengfu Yuan Source Type: research
Corrigendum to "A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K_AKT_mTOR signaling pathway" [GENE909 (2024) 148312/D-23-04187]
Gene. 2024 Apr 28;919:148481. doi: 10.1016/j.gene.2024.148481. Online ahead of print.NO ABSTRACTPMID:38685184 | DOI:10.1016/j.gene.2024.148481 (Source: Gene)
Source: Gene - April 30, 2024 Category: Genetics & Stem Cells Authors: Jiahui Fu Peili Liang Yingchun Zheng Cailing Xu Fu Xiong Fang Yang Source Type: research
