TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw

Denosumab as a Treatment Alternative for Central Giant Cell Granuloma: A Long-Term Retrospective Cohort Study

(2018) Marius Bredell et al.   JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden

(2017) Zachary R. Chalmers et al.   Genome Medicine

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

(2016) Barbara Rivera et al.   ACTA NEUROPATHOLOGICA

Transient Receptor Potential Vanilloid 4 Ion Channel Functions as a Pruriceptor in Epidermal Keratinocytes to Evoke Histaminergic Itch

(2016) Yong Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Gain-of-function mutation inTRPV4identified in patients with osteonecrosis of the femoral head

(2016) Wayne Mah et al.   JOURNAL OF MEDICAL GENETICS

TRPV1 structures in nanodiscs reveal mechanisms of ligand and lipid action

(2016) Yuan Gao et al.   NATURE

Spatial and temporal homogeneity of driver mutations in diffuse intrinsic pontine glioma

(2016) Hamid Nikbakht et al.   Nature Communications

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma

(2014) Adam M Fontebasso et al.   NATURE GENETICS

The highly prevalent H3F3A mutation in giant cell tumours of bone is not shared by sporadic central giant cell lesion of the jaws

(2014) Carolina Cavaliéri Gomes et al.   Oral Surgery Oral Medicine Oral Pathology Oral Radiology

Peripheral giant cell granulomas: a series of 279 cases

(2014) S. Reid Lester et al.   Oral Surgery Oral Medicine Oral Pathology Oral Radiology

The puzzle of TRPV4 channelopathies

(2013) Bernd Nilius et al.   EMBO REPORTS

Structure of the TRPV1 ion channel determined by electron cryo-microscopy

(2013) Maofu Liao et al.   NATURE

Integrated molecular analysis of clear-cell renal cell carcinoma

(2013) Yusuke Sato et al.   NATURE GENETICS

Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone

(2013) Sam Behjati et al.   NATURE GENETICS

Temporomandibular joint pain: A critical role for Trpv4 in the trigeminal ganglion

(2013) Yong Chen et al.   PAIN

Elementary Ca2+ Signals Through Endothelial TRPV4 Channels Regulate Vascular Function

(2012) S. K. Sonkusare et al.   SCIENCE

Osteoglophonic dysplasia: A ‘common’ mutation in a rare disease

(2010) AJ Sow et al.   CLINICAL GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

(2009) Deborah Krakow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

(2009) Michaela Auer-Grumbach et al.   NATURE GENETICS

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

(2009) Han-Xiang Deng et al.   NATURE GENETICS

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

(2009) Guida Landouré et al.   NATURE GENETICS

TRPV4-Mediated Calcium Influx Regulates Terminal Differentiation of Osteoclasts

(2008) Ritsuko Masuyama et al.   Cell Metabolism

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

(2008) Matthew J Rock et al.   NATURE GENETICS