Deborah Krakow

Summary

Affiliation: Cedars-Sinai Medical Center
Country: USA

Publications

  1. ncbi request reprint Analysis of clones from a human cartilage cDNA library provides insight into chondrocyte gene expression and identifies novel candidate genes for the osteochondrodysplasias
    Deborah Krakow
    Department of Obstetrics and Gynecology, Burns and Allen Cedars Sinai Research Institute, Cedars Sinai Medical Center, Medical Genetics, SSB 3, 8700 Beverly Blvd, Los Angeles, CA 90048, USA
    Mol Genet Metab 79:34-42. 2003
  2. pmc Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis
    Deborah Krakow
    Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA
    Am J Med Genet A 146:1917-24. 2008
  3. ncbi request reprint Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
    Deborah Krakow
    Department of Obstetrics and Gynecology, Cedars Sinai Research Institute, and David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    Nat Genet 36:405-10. 2004
  4. pmc BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing
    Vincent A Funari
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Am J Hum Genet 87:532-7. 2010
  5. pmc Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome
    Amy E Merrill
    Medical Genetics Research Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Am J Hum Genet 84:542-9. 2009
  6. pmc Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2
    Stuart W Tompson
    Department of Molecular Cell and Developmental Biology, University of California, Los Angeles, California, USA
    Am J Med Genet A 158:309-14. 2012
  7. pmc Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome
    Claire Farrington-Rock
    Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, SSB 371, Los Angeles, CA 90048, USA
    Hum Mol Genet 17:631-41. 2008
  8. pmc A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan
    Stuart W Tompson
    Medical Genetics Institute, Steven Spielberg Building, Cedars Sinai Medical Center, 8723 Alden Drive, Los Angeles, CA 90048, USA
    Am J Hum Genet 84:72-9. 2009
  9. pmc Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling
    Amy E Merrill
    Department of Orthopedic Surgery, David Geffen School of Medicine, University of California, Los Angeles, 90048, USA
    Am J Hum Genet 90:550-7. 2012
  10. pmc Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression
    Vincent A Funari
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    BMC Genomics 8:165. 2007

Detail Information

Publications44

  1. ncbi request reprint Analysis of clones from a human cartilage cDNA library provides insight into chondrocyte gene expression and identifies novel candidate genes for the osteochondrodysplasias
    Deborah Krakow
    Department of Obstetrics and Gynecology, Burns and Allen Cedars Sinai Research Institute, Cedars Sinai Medical Center, Medical Genetics, SSB 3, 8700 Beverly Blvd, Los Angeles, CA 90048, USA
    Mol Genet Metab 79:34-42. 2003
    ..These data provide new candidate genes for the osteochondrodysplasias and demonstrate the usefulness of cartilage cDNA microarrays in expanding our understanding of the complexity of fetal cartilage gene expression...
  2. pmc Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis
    Deborah Krakow
    Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA
    Am J Med Genet A 146:1917-24. 2008
    ....
  3. ncbi request reprint Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
    Deborah Krakow
    Department of Obstetrics and Gynecology, Cedars Sinai Research Institute, and David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    Nat Genet 36:405-10. 2004
    ..These data indicate an unexpected role in vertebral segmentation, joint formation and endochondral ossification for this ubiquitously expressed cytoskeletal protein...
  4. pmc BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing
    Vincent A Funari
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Am J Hum Genet 87:532-7. 2010
    ..Phenotypic similarities between DSD and Bmper null mice indicate that BMPER-mediated signaling plays an essential role in vertebral segmentation early in human development...
  5. pmc Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome
    Amy E Merrill
    Medical Genetics Research Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Am J Hum Genet 84:542-9. 2009
    ..These findings establish SRP as a cilia disorder and demonstrate that DYNC2H1 is essential for skeletogenesis and growth...
  6. pmc Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2
    Stuart W Tompson
    Department of Molecular Cell and Developmental Biology, University of California, Los Angeles, California, USA
    Am J Med Genet A 158:309-14. 2012
    ..These findings thus demonstrate that fibrochondrogenesis can result from either recessively or dominantly inherited mutations in COL11A2...
  7. pmc Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome
    Claire Farrington-Rock
    Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, SSB 371, Los Angeles, CA 90048, USA
    Hum Mol Genet 17:631-41. 2008
    ..These findings suggest that spinal segmentation can occur normally in the absence of filamin B, but the protein is required for maintenance of intervertebral, carpal and sternal joints, and the joint fusion process commences antenatally...
  8. pmc A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan
    Stuart W Tompson
    Medical Genetics Institute, Steven Spielberg Building, Cedars Sinai Medical Center, 8723 Alden Drive, Los Angeles, CA 90048, USA
    Am J Hum Genet 84:72-9. 2009
    ..These findings identify an autosomal-recessive skeletal dysplasia and a significant role for the aggrecan C-type lectin domain in regulating endochondral ossification and, thereby, height...
  9. pmc Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling
    Amy E Merrill
    Department of Orthopedic Surgery, David Geffen School of Medicine, University of California, Los Angeles, 90048, USA
    Am J Hum Genet 90:550-7. 2012
    ..All together, these clinical and molecular findings are separate from previously characterized FGFR2 disorders and represent a distinct skeletal dysplasia...
  10. pmc Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression
    Vincent A Funari
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    BMC Genomics 8:165. 2007
    ....
  11. ncbi request reprint A transcriptional profile of human fetal cartilage
    Robert Pogue
    Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Cedars Sinai Medical Center, 8700 Beverly Blvd, Los Angeles, CA 90048 USA
    Matrix Biol 23:299-307. 2004
    ..Moreover, these data provide an extensive profile of human fetal cartilage gene expression at this developmental stage...
  12. pmc Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia
    Natalia Camacho
    Department of Orthopedic Surgery, University of California at Los Angeles, Los Angeles, CA 90048, USA
    Am J Med Genet A 152:1169-77. 2010
    ..These data suggest that altered chondrocyte differentiation in the growth plate leads to the clinical findings in metatropic dysplasia...
  13. pmc Guidelines for the prenatal diagnosis of fetal skeletal dysplasias
    Deborah Krakow
    Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine, Los Angeles, California, USA
    Genet Med 11:127-33. 2009
    ..These guidelines provide an approach to a fetus suspected of manifesting a skeletal dysplasia...
  14. ncbi request reprint The skeletal dysplasias: clinical-molecular correlations
    David L Rimoin
    Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, 665W, Los Angeles, CA 90048, USA
    Ann N Y Acad Sci 1117:302-9. 2007
    ..Instructions on accessing the Registry, using the diagnostic services provided and contributing cases for collaborative research can be found at http://www.csmc.edu/skeletaldysplasia...
  15. pmc TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions
    Jennifer Zieba
    Department of Human Genetics, David Geffen School of Medicine at the University of California at Los Angeles, Los Angeles, California, United States of America
    PLoS Genet 12:e1005936. 2016
    ..Furthermore, we demonstrate that the IVD disruptions in Flnb-/-mice resemble aging degenerative discs and reveal new insights into the molecular causes of vertebral fusions and disc degeneration. ..
  16. doi request reprint The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family)
    Stefan F Nemec
    International Skeletal Dysplasia Registry, Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048, USA
    Pediatr Radiol 42:15-23. 2012
    ..This review demonstrates the significance of radiography in the discovery of a new bone dysplasia family due to mutations in a single gene...
  17. ncbi request reprint Isolation of a new member of the ADP-ribosylation like factor gene family, ARL8, from a cartilage cDNA library
    Eiman Sebald
    Department of Obstetrics and Gynecology, Burns and Allen Cedars Sinai Research Institute, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA
    Gene 311:147-51. 2003
    ..ARL8 is an additional member of a family of closely related proteins that are conserved both within the family and across species...
  18. ncbi request reprint Mutations in two regions of FLNB result in atelosteogenesis I and III
    Claire Farrington-Rock
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Hum Mutat 27:705-10. 2006
    ..These results show that clustering of mutations in two regions of FLNB produce AOI/AOIII, and highlight the important role of this cytoskeletal protein in normal skeletogenesis...
  19. doi request reprint Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges
    Deborah Krakow
    Department of Orthopaedic Surgery, University of California, Los Angeles, California
    Am J Med Genet A 170:2652-61. 2016
    ..Description of these patients expands the prenatal and postnatal findings of Bent Bone Dysplasia-FGFR2 type and adds to the phenotypic spectrum among all FGFR2 disorders. © 2016 Wiley Periodicals, Inc. ..
  20. pmc Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene
    Daniel H Cohn
    Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, Cedars Sinai Research Institute and Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90048, USA
    Am J Hum Genet 72:419-28. 2003
    ..The data confirm the hypothesis that SMC and DMC are allelic disorders and identify a gene necessary for normal skeletal development and brain function...
  21. ncbi request reprint MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia
    Ralph S Lachman
    Department of Pediatrics, International Skeletal Dysplasia Registry, UCLA School of Medicine, Radiological Services, 405 Hilgard Ave, Los Angeles, CA 90095, USA
    Pediatr Radiol 35:116-23. 2005
    ..This review will include the mechanics of diagnostic and molecular triage for these disorders...
  22. pmc Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene
    Stuart W Tompson
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Am J Hum Genet 87:708-12. 2010
    ..These findings identify COL11A1 as a locus for fibrochondrogenesis and indicate that there might be phenotypic manifestations among carriers...
  23. pmc Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia
    Deborah Krakow
    Department of Orthopedic Surgery, David Geffen School of Medicine, University of California, Los Angeles, CA 90024, USA
    Am J Hum Genet 84:307-15. 2009
    ....
  24. doi request reprint Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type
    Nora Badiner
    David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    Clin Genet . 2016
    ..Thus SRP type I, II, III and asphyxiating thoracic dystrophy (ATD), which also result from DYNC2H1 mutations. Herein we describe the phenotypic features, radiographic findings, and molecular basis of SRP type I...
  25. pmc Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome
    Iván Durán
    Department of Orthopaedic Surgery, David Geffen School of Medicine at the University of California at Los Angeles, Los Angeles, California, 90095, USA
    Sci Rep 6:34232. 2016
    ..These findings demonstrate the importance of IFT81 in the skeleton, its role in the anterograde transport complex, and expand the number of loci associated with SRPS...
  26. pmc Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFβ1
    Biagio Saitta
    1 Department of Biomedical Sciences, Cedars Sinai Medical Center, Los Angeles, California
    Stem Cells Dev 23:1464-78. 2014
    ....
  27. pmc Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
    S Paige Taylor
    Department of Human Genetics, University of California, Los Angeles, Los Angeles, California 90095, USA
    Nat Commun 6:7092. 2015
    ..The findings in this study expand our understanding of SRPS locus heterogeneity and demonstrate the importance of DYNC2LI1 in dynein-2 complex stability, cilium function, Hedgehog regulation and skeletogenesis. ..
  28. ncbi request reprint Fibroblast growth factors 1, 2, 17, and 19 are the predominant FGF ligands expressed in human fetal growth plate cartilage
    Pavel Krejci
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Pediatr Res 61:267-72. 2007
    ..We conclude that FGF1, 2, 17, and 19 are the predominant FGF ligands present in developing human cartilage that are, with the exception of FGF19, experimentally capable of inhibiting chondrocyte proliferation...
  29. doi request reprint Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders
    Brett M Martin
    UCLA School of Dentistry, Los Angeles, California
    Am J Med Genet A 164:2490-5. 2014
    ..These findings expand the phenotypic spectrum of NOTCH2 mutations and demonstrate the findings in the prenatal period...
  30. pmc Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription
    Cynthia L Neben
    Center for Craniofacial Molecular Biology, Ostrow School of Dentistry and Department of Biochemistry and Molecular Biology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA
    Hum Mol Genet 23:5659-71. 2014
    ..Identifying FGFR2 as a transcriptional regulator of rDNA in bone unexpectedly reveals a nucleolar route for FGF signaling that allows for independent regulation of osteoprogenitor cell proliferation and differentiation. ..
  31. doi request reprint The skeletal dysplasias
    Deborah Krakow
    Department of Orthopaedic Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
    Genet Med 12:327-41. 2010
    ..An increasing variety of medical and surgical treatment options can be offered to affected individuals to try to improve their quality of life and lifespan...
  32. doi request reprint Polyvalvular disease in a fetus with normal chromosomes
    Michelle Miller
    Cedars Sinai Medical Center Pediatric Cardiology, Los Angeles, California 90048, USA
    Congenit Heart Dis 2:214-7. 2007
    ..We report a prenatally diagnosed case of polyvalvular disease with normal chromosomes and no extracardiac anomalies...
  33. pmc Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations
    Nicola Brunetti-Pierri
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Med Genet A 146:1230-3. 2008
  34. pmc Dysregulation of chondrogenesis in human cleidocranial dysplasia
    Qiping Zheng
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 77:305-12. 2005
    ..Together, these data show that humans with CCD have altered endochondral ossification due to altered RUNX2 regulation of hypertrophic chondrocyte-specific genes during chondrocyte maturation...
  35. doi request reprint Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father
    Diana Mitter
    Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
    Am J Med Genet A 146:779-83. 2008
    ..In this report we expand the phenotype of SCT syndrome in a patient with a causal FLNB mutation...
  36. ncbi request reprint Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity
    Stephen P Robertson
    Department of Paediatrics and Child Health, Dunedin School of Medicine, Dunedin, New Zealand
    Am J Med Genet A 140:1726-36. 2006
    ..This observation suggests that locus heterogeneity may exist for this disorder...
  37. pmc A molecular and clinical study of Larsen syndrome caused by mutations in FLNB
    Louise S Bicknell
    Department of Paediatrics and Child Health, University of Otago, Dunedin, New Zealand
    J Med Genet 44:89-98. 2007
    ..To further delineate the molecular causes of Larsen syndrome, 20 probands with Larsen syndrome together with their affected relatives were evaluated for mutations in FLNB and their phenotypes studied...
  38. pmc Type XXVII collagen at the transition of cartilage to bone during skeletogenesis
    Rebecca Hjorten
    Department of Pathology, University of Washington, Seattle, WA 98195, USA
    Bone 41:535-42. 2007
    ..The timing and location of synthesis suggest that type XXVII collagen plays a role during the calcification of cartilage and the transition of cartilage to bone...
  39. pmc Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2
    Petra Seemann
    Institut fur Medizinische Genetik, Charite, Universitatsmedizin Berlin, Berlin, Germany
    J Clin Invest 115:2373-81. 2005
    ..The presented experiments have identified some of the main determinants of GDF5 receptor-binding specificity in vivo and open new prospects for generating antagonists and superagonists of GDF5...
  40. ncbi request reprint Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia
    Miia Melkoniemi
    Collagen Research Unit, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Finland
    Eur J Hum Genet 11:265-70. 2003
    ..The results showed that sequence variations in these genes can play a role in the etiology of Robin sequence, cleft palate and micrognathia but are not common causes of these phenotypes...
  41. pmc GDF5 is a second locus for multiple-synostosis syndrome
    Katherine Dawson
    Kaiser Permanente, Oakland, CA, USA
    Am J Hum Genet 78:708-12. 2006
    ..These data establish locus heterogeneity in multiple-synostosis syndrome and demonstrate that the disorder can result from mutations in either the NOGGIN or the GDF5 gene...
  42. pmc Genetic evaluation of suspected osteogenesis imperfecta (OI)
    Peter H Byers
    University of Washington, Seattle, USA
    Genet Med 8:383-8. 2006
    ..The strategies for evaluation and the testing discussed here provide guidelines for evaluation that should help to distinguish among causes for fracture and bone deformity...
  43. pmc Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
    Joan C Marini
    Bone and Extracellular Matrix Branch, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland 20892, USA
    Hum Mutat 28:209-21. 2007
    ..Our data on genotype-phenotype relationships indicate that the two collagen chains play very different roles in matrix integrity and that phenotype depends on intracellular and extracellular events...
  44. ncbi request reprint Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006)
    Yasemin Alanay
    Clinical Genetics Unit, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey
    Am J Med Genet A 143:1159-68. 2007
    ..This study aims to provide differential diagnosis of entities to be considered when a fetus or newborn is found to have congenital bowing/angulation of the femur...