Ivan Duran

发表

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome

D. Nickerson, M. Bamshad, D. Krakow, 2016, Scientific Reports.

Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

D. Krakow, Bing Li, D. Cohn, 2016, PLoS genetics.

Dominant‐negative SOX9 mutations in campomelic dysplasia

M. Bamshad, D. Eyre, D. Krakow, 2019, Human mutation.

Fibroblast growth factor and canonical WNT/β-catenin signaling cooperate in suppression of chondrocyte differentiation in experimental models of FGFR signaling in cartilage.

P. Matula, S. Murakami, A. Kozubík, 2015, Biochimica et biophysica acta.

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

D. Nickerson, M. Bamshad, I. Thiffault, 2020, EMBO molecular medicine.

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia

D. Nickerson, M. Bamshad, D. Krakow, 2017, Cilia.

4‐PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta

B. Dawson, C. Ambrose, Brendan H. Lee, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Primary Cutaneous ALCL With Phosphorylated/Activated Cytoplasmic ALK and Novel Phenotype: EMA/MUC1+, Cutaneous Lymphocyte Antigen Negative

G. Pinkus, H. Kawaguchi, C. Fuller, 2008, The American journal of surgical pathology.

The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling

Jeremy D. Woods, D. Krakow, Hane Lee, 2018, Science Translational Medicine.

Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies

D. Krakow, G. Jansen, Ivan Duran, 2018, Human molecular genetics.

An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.

D. Nickerson, M. Bamshad, A. Hampl, 2016, Human molecular genetics.

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

S. Nelson, R. Vallee, Sulin Wu, 2015, Nature Communications.

Correction: Corrigendum: The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

E. Marcotte, Tae Joo Park, J. Wallingford, 2016, Nature Genetics.

Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia

D. Nickerson, M. Bamshad, D. Krakow, 2020, EBioMedicine.

Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

D. Krakow, D. Cohn, R. Pogue, 2016, PLoS genetics.

Zebrafish Models for Human Skeletal Disorders

Ivan Duran, M. Marí-Beffa, Ana B. Mesa-Román, 2021, Frontiers in Genetics.

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies

D. Nickerson, M. Bamshad, D. Krakow, 2018, Human mutation.

TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions

K. Lyons, D. Krakow, J. Zieba, 2016, PLoS genetics.

Title TGF beta and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions Permalink

K. Lyons, D. Krakow, J. Zieba, 2016 .

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

E. Marcotte, Tae Joo Park, J. Wallingford, 2016, Nature Genetics.

A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen

Brendan H. Lee, D. Eyre, D. Krakow, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Skeletal diseases caused by mutations in PTH1R show aberrant differentiation of skeletal progenitors due to dysregulation of DEPTOR

D. Krakow, J. Zieba, J. Becerra, 2023, Frontiers in Cell and Developmental Biology.

NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot

M. Iruela-Arispe, D. Krakow, Ivan Duran, 2018, American journal of medical genetics. Part A.

HSP47 and FKBP65 cooperate in the synthesis of type I procollagen.

Sulin Wu, D. Eyre, D. Krakow, 2015, Human molecular genetics.

An RNA aptamer restores defective bone growth in FGFR3-related skeletal dysplasia in mice

Yoshikazu Nakamura, T. Zikmund, D. Krakow, 2021, Science Translational Medicine.

The α2 chain of type IX collagen is essential for type IX collagen biosynthesis

D. Eyre, D. Krakow, D. Cohn, 2019, American journal of medical genetics. Part A.

Fibroblast growth factor receptor influences primary cilium length through an interaction with intestinal cell kinase

Juraj Bosák, A. Hampl, D. Krakow, 2019, Proceedings of the National Academy of Sciences.

Primary Cutaneous ALCL With Phosphorylated/Activated Cytoplasmic ALK and Novel Phenotype: EMA/MUC1+, Cutaneous Lymphocyte Antigen Negative

G. Pinkus, H. Kawaguchi, C. Fuller, 2008, American Journal of Surgical Pathology.

Fibroblast growth factor and canonical WNT/β-catenin signaling cooperate in suppression of chondrocyte differentiation in experimental models of FGFR signaling in cartilage.

P. Matula, S. Murakami, A. Kozubík, 2015, Biochimica et biophysica acta.