Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet‐derived growth factor receptor‐beta

Induction of Mesoderm and Neural Crest-Derived Pericytes from Human Pluripotent Stem Cells to Study Blood-Brain Barrier Interactions

(2019) Tannaz Faal et al.   Stem Cell Reports

Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome

(2019) Yuri A. Zarate et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

PDGRFB mutation‐associated myofibromatosis: Response to targeted therapy with imatinib

(2019) Johannes M. Weller et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Premature Aging Syndrome, Penttinen Type: Report of a Chinese Case with a PDGFRB Mutation

(2018) Z Zhang et al.   ACTA DERMATO-VENEREOLOGICA

Phenotype expansion and development in Kosaki overgrowth syndrome

(2018) P. Gawliński et al.   CLINICAL GENETICS

Modeling sporadic ALS in iPSC-derived motor neurons identifies a potential therapeutic agent

(2018) Koki Fujimori et al.   NATURE MEDICINE

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

(2018) Cecilie Bredrup et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

T-type Calcium Channels Determine the Vulnerability of Dopaminergic Neurons to Mitochondrial Stress in Familial Parkinson Disease

(2018) Yoshikuni Tabata et al.   Stem Cell Reports

A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib

(2017) Dinel Pond et al.   GENETICS IN MEDICINE

CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations

(2017) Hironobu Okuno et al.   eLife

Deriving human ENS lineages for cell therapy and drug discovery in Hirschsprung disease

(2016) Faranak Fattahi et al.   NATURE

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

(2015) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PDGFRBmutation causes autosomal-dominant Penttinen syndrome

(2015) F. Aminkeng   CLINICAL GENETICS

Novel Overgrowth Syndrome Phenotype Due to Recurrent De Novo PDGFRB Mutation

(2015) Toshiki Takenouchi et al.   JOURNAL OF PEDIATRICS

PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib

(2015) F A Arts et al.   ONCOGENE

PDGF receptor signaling networks in normal and cancer cells

(2014) Jean-Baptiste Demoulin et al.   CYTOKINE & GROWTH FACTOR REVIEWS

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

(2014) Katrina Tatton-Brown et al.   NATURE GENETICS

A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis

(2013) Yee Him Cheung et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

(2013) John A. Martignetti et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

(2013) Gaël Nicolas et al.   BRAIN

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

(2013) Annika Keller et al.   NATURE GENETICS

Multifarious functions of PDGFs and PDGFRs in tumor growth and metastasis

(2013) Yihai Cao   TRENDS IN MOLECULAR MEDICINE

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

(2012) Cheng Wang et al.   NATURE GENETICS

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification

(2012) G. Nicolas et al.   NEUROLOGY

Surgical Treatment for Scoliosis in Patients WithShprintzen-Goldberg Syndrome

(2011) Kota Watanabe et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

Distinct Impact of Imatinib on Growth at Prepubertal and Pubertal Ages of Children with Chronic Myeloid Leukemia

(2011) Haruko Shima et al.   JOURNAL OF PEDIATRICS

A more efficient method to generate integration-free human iPS cells

(2011) Keisuke Okita et al.   NATURE METHODS

Pericytes regulate the blood–brain barrier

(2010) Annika Armulik et al.   NATURE

Pericytes are required for blood–brain barrier integrity during embryogenesis

(2010) Richard Daneman et al.   NATURE

Sustained Platelet-Derived Growth Factor Receptor   Signaling in Osteoblasts Results in Craniosynostosis by Overactivating the Phospholipase C-  Pathway

(2008) A. Moenning et al.   MOLECULAR AND CELLULAR BIOLOGY