STAT1 modulates tissue wasting or overgrowth downstream from PDGFRβ

In this study, He et al. investigated how gain-of-function PDGFRβ mutations cause human disease, specifically whether PDGFRB mutations alone are responsible for genetic diseases characterized by musculoskeletal wasting or overgrowth. Using a genetic approach, their findings suggest a molecular mechanism by which STAT1 suppresses PDGFRβ-driven fibrosis and bone growth.

• Publication year

  2017

• Venue

  Genes & Development

• Publication date

  2017-08-15

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1101/gad.300384.117PMID 28924035PMCID 5647937
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Expansion of the phenotype of Kosaki overgrowth syndrome

  2017cited by this paper
• Blockade of PDGF Receptors by Crenolanib Has Therapeutic Effect in Patient Fibroblasts and in Preclinical Models of Systemic Sclerosis.

  2017cited by this paper
• A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib

  2017cited by this paper
• PDGFRα controls the balance of stromal and adipogenic cells during adipose tissue organogenesis

  2017cited by this paper
• PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib

  2016cited by this paper
• PDGFRβ regulates craniofacial development through homodimers and functional heterodimers with PDGFRα

  2016cited by this paper
• PDGFRα signalling promotes fibrogenic responses in collagen‐producing cells in Duchenne muscular dystrophy

  2016cited by this paper
• The suture provides a niche for mesenchymal stem cells of craniofacial bones

  2015cited by this paper
• PDGFRα signaling drives adipose tissue fibrosis by targeting progenitor cell plasticity

  2015cited by this paper
• PDGFRβ signaling regulates local inflammation and synergizes with hypercholesterolemia to promote atherosclerosis

  2015cited by this paper
• Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation.

  2015influential reference
• PDGFB-based stem cell gene therapy increases bone strength in the mouse

  2015cited by this paper
• Abstract 5: The Suture Provides a Niche for Mesenchymal Stem Cells of Craniofacial Bones

  2015cited by this paper
• A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.

  2015influential reference
• Aicardi–Goutières syndrome and the type I interferonopathies

  2015cited by this paper
• Corrigendum: Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling

  2014cited by this paper
• Defining dermal adipose tissue

  2014cited by this paper
• SOCS proteins in regulation of receptor tyrosine kinase signaling

  2014cited by this paper
• PI3K-mediated PDGFRα signaling regulates survival and proliferation in skeletal development through p53-dependent intracellular pathways

  2014cited by this paper
• Ptpn11 Deletion in A Novel Cartilage Cell Causes Metachondromatosis by Activating Hedgehog Signaling

  2013cited by this paper
• STAT heterodimers in immunity

  2013cited by this paper
• Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

  2013cited by this paper
• Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

  2013cited by this paper
• Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

  2013cited by this paper
• Suppression of cytokine signaling: the SOCS perspective.

  2013cited by this paper
• A recurrent PDGFRB mutation causes familial infantile myofibromatosis.

  2013cited by this paper
• A Critical Role for PDGFRα Signaling in Medial Nasal Process Development

  2013cited by this paper
• Involvement of PDGF in Fibrosis and Scleroderma: Recent Insights from Animal Models and Potential Therapeutic Opportunities

  2013cited by this paper
• Constitutive type I interferon modulates homeostatic balance through tonic signaling.

  2012cited by this paper
• PDGFRβ signaling regulates mural cell plasticity and inhibits fat development.

  2011influential reference
• Increased PDGFRalpha activation disrupts connective tissue development and drives systemic fibrosis.

  2009cited by this paper
• Identification of a stem cell niche in the zone of Ranvier within the knee joint

  2009cited by this paper
• Role of platelet-derived growth factors in physiology and medicine.

  2008cited by this paper
• Osteoclasts Control Osteoblast Chemotaxis via PDGF-BB/PDGF Receptor Beta Signaling

  2008cited by this paper
• PDGF Receptor β Is a Potent Regulator of Mesenchymal Stromal Cell Function

  2008cited by this paper
• Sustained Platelet-Derived Growth Factor Receptor α Signaling in Osteoblasts Results in Craniosynostosis by Overactivating the Phospholipase C-γ Pathway

  2008cited by this paper
• Trex1 prevents cell-intrinsic initiation of autoimmunity.

  2008cited by this paper
• Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

  2006cited by this paper
• Regulation of PDGF and its receptors in fibrotic diseases.

  2004cited by this paper
• PDGF signaling in cells and mice.

  2004cited by this paper
• Stat1 Controls Postnatal Bone Formation by Regulating Fibroblast Growth Factor Signaling in Osteoblasts*

  2004influential reference
• Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype.

  2004cited by this paper
• Additive Effects of PDGF Receptor β Signaling Pathways in Vascular Smooth Muscle Cell Development

  2003cited by this paper
• Stat1 functions as a cytoplasmic attenuator of Runx2 in the transcriptional program of osteoblast differentiation.

  2003influential reference
• Signalling: STATs: transcriptional control and biological impact

  2002cited by this paper
• Platelet‐Derived Growth Factor BB Secreted From Osteoclasts Acts as an Osteoblastogenesis Inhibitory Factor

  2002cited by this paper
• An allelic series at the PDGFalphaR locus indicates unequal contributions of distinct signaling pathways during development.

  2002cited by this paper
• STAT1 mediates the increased apoptosis and reduced chondrocyte proliferation in mice overexpressing FGF2.

  2001cited by this paper
• Mechanism of action and in vivo role of platelet-derived growth factor.

  1999cited by this paper
• Targeted disruption of the Stat1 gene in mice reveals unexpected physiologic specificity in the JAK-STAT signaling pathway.

  1996cited by this paper
• The effect of systemically administered PDGF‐BB on the rodent skeleton

  1996influential reference
• Targeted disruption of the mouse Stat1 gene results in compromised innate immunity to viral disease.

  1996cited by this paper
• Ras-independent growth factor signaling by transcription factor tyrosine phosphorylation.

  1993cited by this paper
• INTERFERON‐INDUCED DISEASE IN MICE AND RATS *

  1980cited by this paper
• Organization and cellular biology of the perichondrial ossification groove of ranvier: a morphological study in rabbits.

  1977cited by this paper
• American Heart Association.

  1958cited by this paper

• N-Lac-Phe Ameliorates Myocardial Cell Death by Improving Mitochondrial Dysfunction, Ultimately Improving TAC-induced Heart Failure.

  2026cites this paper
• Overactive PDGFRα and PDGFRβ promote distinct yet overlapping phenotypes of skeletal muscle fibrosis and stiffness, with PDGFRβ also driving drastic muscle growth

  2026cites this paper
• PDGFRβ signaling restrains myocyte function to limit the regenerative capacity of skeletal muscle

  2025cites this paper
• ‘Knowing and Treating Kosaki/Penttinen syndrome’ international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors

  2025cites this paper
• Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 PDGFRB Variants and Their Role in Downstream Signaling

  2025cites this paper
• MHO or MUO? White adipose tissue remodeling

  2024cites this paper
• Current status of drugs targeting PDGF/PDGFR.

  2024cites this paper
• Suppressing PDGFRβ Signaling Enhances Myocyte Fusion to Promote Skeletal Muscle Regeneration

  2024cites this paper
• Reversing Pdgfrβ signaling restores metabolically active beige adipocytes by alleviating ILC2 suppression in aged and obese mice

  2024cites this paper
• Reversing Pdgfrβ Signaling Restores Metabolically Active Beige Adipocytes by Alleviating ILC2 Suppression in Aged and Obese Mice

  2024cites this paper
• Somatic PDGFRB activating variants promote smooth muscle cell phenotype modulation in intracranial fusiform aneurysm

  2024cites this paper
• Ganoderma lucidum polysaccharides attenuates pressure-overload-induced pathological cardiac hypertrophy

  2023cites this paper
• Platelet-derived growth factor receptor beta is required for embryonic specification and confinement of the adult white adipose lineage

  2023cites this paper
• Corneal Vascularization Associated With a Novel PDGFRB Variant

  2023cites this paper
• STAT1 Drives the Interferon-Like Response and Aging Hallmarks in Progeria.

  2023cites this paper
• Age-dependent Pdgfrβ signaling drives adipocyte progenitor dysfunction to alter the beige adipogenic niche in male mice

  2023cites this paper
• Bifunctional cancer cell–based vaccine concomitantly drives direct tumor killing and antitumor immunity

  2023cites this paper
• Penttinen syndrome‐associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling

  2022cites this paper
• Diverse roles of tumor-stromal PDGFB-to-PDGFRβ signaling in breast cancer growth and metastasis.

  2022cites this paper
• Fibrosis in fat: From other diseases to Crohn’s disease

  2022cites this paper
• Signal transducer and transcriptional activation 1 protects against pressure overload‐induced cardiac hypertrophy

  2021cites this paper
• Skeletal stem cell fate defects caused by Pdgfrb activating mutation.

  2021cites this paper
• Balasubramide derivative 3C attenuates atherosclerosis in apolipoprotein E-deficient mice: role of AMPK-STAT1-STING signaling pathway

  2021cites this paper
• GYY4137 alleviates sepsis-induced acute lung injury in mice by inhibiting the PDGFRβ/Akt/NF-κB/NLRP3 pathway.

  2021cites this paper
• An activating mutation in Pdgfrb causes skeletal stem cell defects with osteopenia and overgrowth in mice

  2021influential citation
• PERK inhibition attenuates vascular remodeling in pulmonary arterial hypertension caused by BMPR2 mutation

  2021cites this paper
• Transcriptional dysregulation of TRIM29 promotes colorectal cancer carcinogenesis via pyruvate kinase-mediated glucose metabolism

  2021cites this paper
• Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions

  2021cites this paper
• PDGF receptor mutations in human diseases

  2021cites this paper
• Latest advances in STAT signaling and function in adipocytes.

  2020cites this paper
• Mosaic Mutant Analysis Identifies PDGFRα/PDGFRβ as Negative Regulators of Adipogenesis.

  2020cites this paper
• Fibroblast‐specific Stat1 deletion enhances the myofibroblast phenotype during tissue repair

  2020influential citation
• Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells

  2019cites this paper
• MSC Transplantation Improves Lacrimal Gland Regeneration after Surgically Induced Dry Eye Disease in Mice

  2019cites this paper
• Genomic instability and innate immune responses to self-DNA in progeria

  2019cites this paper
• Self-Awareness: Nucleic Acid-Driven Inflammation and the Type I Interferonopathies.

  2019cites this paper
• Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

  2018cites this paper
• A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome

  2018cites this paper