4.7 Review

Tuberous Sclerosis Complex Kidney Lesion Pathogenesis: A Developmental Perspective

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Cell Biology

Renal organoid modeling of tuberous sclerosis complex reveals lesion features arise from diverse developmental processes

Adam Pietrobon et al.

Summary: This study utilizes a genetically engineered human renal organoid model to recapitulate various features of tuberous sclerosis complex (TSC) kidney disease. Single-cell RNA sequencing analysis reveals that the loss of TSC1 or TSC2 affects multiple developmental processes in the renal epithelial, stromal, and glial compartments, including upregulation of stromal-associated genes, rapamycin-insensitive epithelial-to-mesenchymal transition, and the formation of a melanocytic population.

CELL REPORTS (2022)

Article Multidisciplinary Sciences

Midkine expression by stem-like tumor cells drives persistence to mTOR inhibition and an immune-suppressive microenvironment

Yan Tang et al.

Summary: mTORC1 hyperactivity is observed in various cancer types. This study investigates Tuberous Sclerosis Complex (TSC) associated tumors with mTORC1 hyperactivity and identifies a stem-like tumor cell state (SLS) linked to T cell dysfunction through tumor-modulated immunosuppressive macrophages. The stem-like tumor cells show resistance to rapamycin, the primary treatment for TSC tumors. The pro-angiogenic factor midkine (MDK) is highly expressed by the SLS population and is associated with enrichment of endothelial cells in SLS-dominant samples. Inhibition of MDK in combination with rapamycin reduces the growth of TSC cell lines in vitro and in vivo, suggesting an autocrine rapamycin resistance mechanism and a paracrine tumor survival mechanism adopted by the stem-like state tumor cells with mTORC1 hyperactivity.

NATURE COMMUNICATIONS (2022)

Review Cell Biology

Connecting past and present: single-cell lineage tracing

Cheng Chen et al.

Summary: Single-cell lineage tracing, a fundamental goal in modern biology, allows the depiction of cells' history, state, and fate. Various strategies, including integration barcodes, polylox barcodes, and CRISPR barcodes, have been developed to achieve single-cell lineage tracing at high resolution. Despite their successful application in animal development and stem cell research, careful implementation and effort are still required.

PROTEIN & CELL (2022)

Article Biochemistry & Molecular Biology

Tsc2 mutation induces renal tubular cell nonautonomous disease

Prashant Kumar et al.

Summary: The pathogenesis of TSC renal cystic disease is not well understood, but a new mouse model reveals changes in cystic epithelial cells and the important role of extracellular vesicles (EVs) in the disease process.

GENES & DISEASES (2022)

Article Multidisciplinary Sciences

Kidney intercalated cells and the transcription factor FOXi1 drive cystogenesis in tuberous sclerosis complex

Sharon Barone et al.

Summary: A study found that mice with Tsc1 gene knockout in kidney develop numerous cortical cysts predominantly composed of hyperproliferating A-IC cells. In Tsc1 KO mice, the expression of Foxi1 and its downstream targets, as well as H+-ATPase and other related genes, is significantly increased; whereas such patterns are not observed in Pkd1 mutant mice.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2021)

Article Multidisciplinary Sciences

A tissue-bioengineering strategy for modeling rare human kidney diseases in vivo

J. O. R. Hernandez et al.

Summary: The lack of animal models for certain human diseases hinders the understanding of disease mechanisms and the testing of potential therapies in vivo. This study presents an innovative tissue bioengineering strategy using patient-derived hiPSCs for modeling a rare kidney tumor called angiomyolipoma, both in vitro and in vivo.

NATURE COMMUNICATIONS (2021)

Review Developmental Biology

The origin and role of the renal stroma

Sean B. Wilson et al.

Summary: The postnatal kidney is mainly composed of epithelial cells, while the developing kidney has a diverse and regionally specific gene expression in stromal cells, which tightly regulate the identity and function of epithelial cells. Although a renal stromal stem cell population exists, their role in kidney morphogenesis is still unclear.

DEVELOPMENT (2021)

Review Medicine, Research & Experimental

Renal cystic disease in tuberous sclerosis complex

Prashant Kumar et al.

Summary: Tuberous sclerosis complex (TSC) is linked to TSC1 or TSC2 gene mutations, which lead to overactivation of the mTORC1 pathway, resulting in abnormal tissue development and proliferation in the kidney, including both solid tumors and cystic lesions. Recent research in TSC nephrology highlights the role of extracellular vesicles and the innate immune system in disease pathogenesis.

EXPERIMENTAL BIOLOGY AND MEDICINE (2021)

Article Multidisciplinary Sciences

Renal neoplasms in tuberous sclerosis mice are neurocristopathies

Uchenna Unachukwu et al.

Summary: The study found that the pathogenesis of tuberous sclerosis originates from neural crest cell populations, which play a crucial role in renal tumors in Tsc2(+/-) mice. Targeting neural crest antigenic determinants may offer a potential alternative therapeutic approach for TS pathogenesis.

ISCIENCE (2021)

Review Genetics & Heredity

Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex

Wardiya Afshar Saber et al.

MOLECULAR AUTISM (2020)

Review Cell Biology

Cellular and Molecular Mechanisms of Kidney Development: From the Embryo to the Kidney Organoid

Niloofar Khoshdel Rad et al.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2020)

Article Critical Care Medicine

Single-Cell Transcriptomic Analysis Identifies a Unique Pulmonary Lymphangioleiomyomatosis Cell

Minzhe Guo et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2020)

Review Cell Biology

Human organoids: model systems for human biology and medicine

Jihoon Kim et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2020)

Article Cardiac & Cardiovascular Systems

Natural history of incidental sporadic and tuberous sclerosis complex associated lymphangioleiomyomatosis

Fabiano Di Marco et al.

RESPIRATORY MEDICINE (2020)

Article Cell Biology

Developmental Gene Expression Differences between Humans and Mammalian Models

Margarida Cardoso-Moreira et al.

CELL REPORTS (2020)

Article Multidisciplinary Sciences

mTORC1 activation in lung mesenchyme drives sex- and age-dependent pulmonary structure and function decline

Kseniya Obraztsova et al.

NATURE COMMUNICATIONS (2020)

Article Multidisciplinary Sciences

Tsc1 ablation in Prx1 and Osterix lineages causes renal cystogenesis in mouse

Zhixiang Wu et al.

SCIENTIFIC REPORTS (2019)

Article Genetics & Heredity

Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex

Catherine L. Salussolia et al.

Annual Review of Genomics and Human Genetics (2019)

Article Genetics & Heredity

Phenotypic distinctions between mosaic forms of tuberous sclerosis complex

Alison M. Treichel et al.

GENETICS IN MEDICINE (2019)

Letter Respiratory System

Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis

Barbara Ogorek et al.

EUROPEAN RESPIRATORY JOURNAL (2019)

Article Multidisciplinary Sciences

Spatiotemporal structure of cell fate decisions in murine neural crest

Ruslan Soldatov et al.

SCIENCE (2019)

Review Cell Biology

mTOR as a central hub of nutrient signalling and cell growth

Joungmok Kim et al.

NATURE CELL BIOLOGY (2019)

Review Endocrinology & Metabolism

Molecular logic of mTORC1 signalling as a metabolic rheostat

Alexander J. Valvezan et al.

NATURE METABOLISM (2019)

Article Physiology

Tuberous sclerosis complex exhibits a new renal cystogenic mechanism

John J. Bissler et al.

PHYSIOLOGICAL REPORTS (2019)

Editorial Material Urology & Nephrology

A link between stemness and tumorigenesis in the kidney

Francesca Becherucci et al.

NATURE REVIEWS NEPHROLOGY (2018)

Article Multidisciplinary Sciences

Hamartin regulates cessation of mouse nephrogenesis independently of Mtor

Oded Volovelsky et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2018)

Article Biochemistry & Molecular Biology

Genetically engineered human cortical spheroid models of tuberous sclerosis

John D. Blair et al.

NATURE MEDICINE (2018)

Review Urology & Nephrology

Renal disease in tuberous sclerosis complex: pathogenesis and therapy

Hilaire C. Lam et al.

NATURE REVIEWS NEPHROLOGY (2018)

Review Genetics & Heredity

Renal manifestation of tuberous sclerosis complex

John J. Bissler et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2018)

Article Clinical Neurology

Causes of mortality in individuals with tuberous sclerosis complex

Sam Amin et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2017)

Review Urology & Nephrology

Cellular plasticity in kidney injury and repair

Monica Chang-Panesso et al.

NATURE REVIEWS NEPHROLOGY (2017)

Review Biochemistry & Molecular Biology

Cancer stem cells revisited

Eduard Batlle et al.

NATURE MEDICINE (2017)

Article Multidisciplinary Sciences

The genomic landscape of tuberous sclerosis complex

Katie R. Martin et al.

NATURE COMMUNICATIONS (2017)

Article Multidisciplinary Sciences

Notch transactivates Rheb to maintain the multipotency of TSC-null cells

Jun-Hung Cho et al.

NATURE COMMUNICATIONS (2017)

Article Multidisciplinary Sciences

Evidence of renal angiomyolipoma neoplastic stem cells arising from renal epithelial cells

Ana Filipa Goncalves et al.

NATURE COMMUNICATIONS (2017)

Article Medical Laboratory Technology

Angiomyolipoma With Epithelial Cysts

Michael A. LeRoy et al.

ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE (2016)

Review Urology & Nephrology

Variable Cyst Development in Autosomal Dominant Polycystic Kidney Disease: The Biologic Context

Wouter N. Leonhard et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2016)

Article Medicine, General & Internal

Tuberous sclerosis complex

Elizabeth P. Henske et al.

NATURE REVIEWS DISEASE PRIMERS (2016)

Review Pathology

PEComa: morphology and genetics of a complex tumor family

Khin Thway et al.

ANNALS OF DIAGNOSTIC PATHOLOGY (2015)

Review Developmental Biology

The origin of the mammalian kidney: implications for recreating the kidney in vitro

Minoru Takasato et al.

DEVELOPMENT (2015)

Article Clinical Neurology

Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist

Petrus J. de Vries et al.

PEDIATRIC NEUROLOGY (2015)

Article Gastroenterology & Hepatology

Prevalence of sporadic renal angiomyolipoma: a retrospective analysis of 61,389 in- and out-patients

Astrid Fittschen et al.

ABDOMINAL IMAGING (2014)

Article Biochemistry & Molecular Biology

Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex

Magdalena E. Tyburczy et al.

HUMAN MOLECULAR GENETICS (2014)

Article Urology & Nephrology

Association between the growth rate of renal cysts/angiomyolipomas and age in the patients with tuberous sclerosis complex

Jeng-Dau Tsai et al.

INTERNATIONAL UROLOGY AND NEPHROLOGY (2014)

Review Urology & Nephrology

Translational research in ADPKD: lessons from animal models

Hester Happe et al.

NATURE REVIEWS NEPHROLOGY (2014)

Review Cell Biology

The neural crest lineage as a driver of disease heterogeneity in Tuberous Sclerosis Complex and Lymphangioleiomyomatosis

Sean P. Delaney et al.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2014)

Article Multidisciplinary Sciences

Stochastic Model of Tsc1 Lesions in Mouse Brain

Shilpa Prabhakar et al.

PLOS ONE (2013)

Editorial Material Critical Care Medicine

Lymphangioleiomyomatosis Calling It What It Is: A Low-Grade, Destructive, Metastasizing Neoplasm

Francis X. McCormack et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2012)

Article Medicine, Research & Experimental

Lymphangioleiomyomatosis - a wolf in sheep's clothing

Elizabeth P. Henske et al.

JOURNAL OF CLINICAL INVESTIGATION (2012)

Article Biochemistry & Molecular Biology

TBC1D7 Is a Third Subunit of the TSC1-TSC2 Complex Upstream of mTORC1

Christian C. Dibble et al.

MOLECULAR CELL (2012)

Article Cell Biology

Mammalian Kidney Development: Principles, Progress, and Projections

Melissa H. Little et al.

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY (2012)

Article Physiology

Cystogenesis and elongated primary cilia in Tsc1-deficient distal convoluted tubules

Eric A. Armour et al.

AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2012)

Article Medicine, Research & Experimental

mTORC1 activation in podocytes is a critical step in the development of diabetic nephropathy in mice

Ken Inoki et al.

JOURNAL OF CLINICAL INVESTIGATION (2011)

Article Urology & Nephrology

Tuberous Sclerosis Complex Renal Disease

Bradley P. Dixon et al.

NEPHRON EXPERIMENTAL NEPHROLOGY (2011)

Article Medicine, General & Internal

Efficacy and Safety of Sirolimus in Lymphangioleiomyomatosis

Francis X. McCormack et al.

NEW ENGLAND JOURNAL OF MEDICINE (2011)

Article Multidisciplinary Sciences

Angiomyolipoma Have Common Mutations in TSC2 but No Other Common Genetic Events

Wei Qin et al.

PLOS ONE (2011)

Review Pediatrics

Clinical and Molecular Insights into Tuberous Sclerosis Complex Renal Disease

Brian J. Siroky et al.

PEDIATRIC NEPHROLOGY (2011)

Article Critical Care Medicine

Phenotypic Characterization of Disseminated Cells with TSC2 Loss of Heterozygosity in Patients with Lymphangioleiomyomatosis

Xiong Cai et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2010)

Article Medicine, Research & Experimental

Animal Models of Lymphangioleiomyomatosis (LAM) and Tuberous Sclerosis Complex (TSC)

David J. Kwiatkowski

LYMPHATIC RESEARCH AND BIOLOGY (2010)

Article Developmental Biology

Paraxial mesoderm contributes stromal cells to the developing kidney

Richard Guillaume et al.

DEVELOPMENTAL BIOLOGY (2009)

Article Biochemistry & Molecular Biology

Loss of Tsc1, but not Pten, in renal tubular cells causes polycystic kidney disease by activating mTORC1

Jing Zhou et al.

HUMAN MOLECULAR GENETICS (2009)

Article Pathology

Cathepsin-k expression in pulmonary lymphangioleiomyomatosis

Marco Chilosi et al.

MODERN PATHOLOGY (2009)

Review Biochemistry & Molecular Biology

The TSC1-TSC2 complex: a molecular switchboard controlling cell growth

Jingxiang Huang et al.

BIOCHEMICAL JOURNAL (2008)

Article Biochemistry & Molecular Biology

Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia

Vishal Patel et al.

HUMAN MOLECULAR GENETICS (2008)

Article Biochemistry & Molecular Biology

An efficient and versatile system for acute and chronic modulation of renal tubular function in transgenic mice

Milena Traykova-Brauch et al.

NATURE MEDICINE (2008)

Article Medicine, General & Internal

Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis

John J. Bissler et al.

NEW ENGLAND JOURNAL OF MEDICINE (2008)

Article Biochemistry & Molecular Biology

Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice

Irma S. Lantinga-van Leeuwen et al.

HUMAN MOLECULAR GENETICS (2007)

Article Biochemistry & Molecular Biology

A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1

Klaus Piontek et al.

NATURE MEDICINE (2007)

Article Biochemistry & Molecular Biology

The tuberous sclerosis complex proteins - a GRIPP on cognition and neurodevelopment

Petrus J. de Vries et al.

TRENDS IN MOLECULAR MEDICINE (2007)

Article Urology & Nephrology

Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors

S. K. Rakowski et al.

KIDNEY INTERNATIONAL (2006)

Article Critical Care Medicine

The NHLBI lymphangioleiomyomatosis registry - Characteristics of 230 patients at enrollment

JH Ryu et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2006)

Article Multidisciplinary Sciences

Molecular and genetic analysis of disseminated neoplastic cells in lymphangioleiomyomatosis

DM Crooks et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)

Article Urology & Nephrology

An epidemiological study of renal pathology in tuberous sclerosis complex

FJ O'Callaghan et al.

BJU INTERNATIONAL (2004)

Article Oncology

Metastasis of benign tumor cells in tuberous sclerosis complex

EP Henske

GENES CHROMOSOMES & CANCER (2003)

Article Critical Care Medicine

Recurrent lymphangiomyomatosis after transplantation - Genetic analyses reveal a metastatic mechanism

M Karbowniczek et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2003)

Article Radiology, Nuclear Medicine & Medical Imaging

Tuberous sclerosis complex: Renal Imaging findings

KA Casper et al.

RADIOLOGY (2002)

Article Pathology

Renal disease in adults with TSC2/PKD1 contiguous gene syndrome

G Martignoni et al.

AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2002)

Article Critical Care Medicine

Chromosome 16 loss of heterozygosity in tuberous sclerosis and sporadic lymphangiomyomatosis

J Yu et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2001)

Article Multidisciplinary Sciences

A germ-line Tsc1 mutation causes tumor development and embryonic lethality that are similar, but not identical to, those caused by Tsc2 mutation in mice

T Kobayashi et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)

Article Radiology, Nuclear Medicine & Medical Imaging

Lymphangioleiomyomatosis: Abdominopelvic CT and US findings

NA Avila et al.

RADIOLOGY (2000)

Article Multidisciplinary Sciences

Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis

T Carsillo et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)