Daniel H Cohn

Summary

Affiliation: Cedars-Sinai Medical Center
Country: USA

Publications

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  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 Exome sequencing identifies PDE4D mutations in acrodysostosis
    Hane Lee
    Department of Human Genetics, University of California Los Angeles, CA 90095, USA
    Am J Hum Genet 90:746-51. 2012
  8. pmc Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, California, USA
    BMC Genomics 10:646. 2009
  9. pmc Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12
    Nadia Ehtesham
    Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, Cedars Sinai Research Institute, Los Angeles, CA 90048, USA
    Am J Hum Genet 71:947-51. 2002
  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

Collaborators

Detail Information

Publications31

  1. 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...
  2. 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...
  3. 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...
  4. 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...
  5. 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...
  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 Exome sequencing identifies PDE4D mutations in acrodysostosis
    Hane Lee
    Department of Human Genetics, University of California Los Angeles, CA 90095, USA
    Am J Hum Genet 90:746-51. 2012
    ..These findings demonstrate that acrodysostosis is genetically heterogeneous and underscore the exquisite sensitivity of many tissues to alterations in cAMP homeostasis...
  8. pmc Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, California, USA
    BMC Genomics 10:646. 2009
    ..This approach is being used by our group and others routinely and we are continuing to improve its performance...
  9. pmc Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12
    Nadia Ehtesham
    Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, Cedars Sinai Research Institute, Los Angeles, CA 90048, USA
    Am J Hum Genet 71:947-51. 2002
    ....
  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. doi 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...
  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 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
    ....
  14. ncbi 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...
  15. pmc Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin
    Matthew J Rock
    Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Los Angeles, CA 90048, USA
    Mol Cell Biochem 338:215-24. 2010
    ....
  16. pmc Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
    Matthew J Rock
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Nat Genet 40:999-1003. 2008
    ..This study thus defines a previously unknown mechanism, activation of a calcium-permeable TRP ion channel, in skeletal dysplasia pathogenesis...
  17. ncbi 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...
  18. 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...
  19. ncbi 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...
  20. ncbi 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...
  21. ncbi 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...
  22. pmc Mice Expressing Mutant Trpv4 Recapitulate the Human TRPV4 Disorders
    Michael M Weinstein
    Department of Molecular, Cell, and Developmental Biology, University of California, Los Angeles, CA, USA Department of Orthopaedic Surgery and Orthopaedic Hospital Research Center, University of California, Los Angeles, CA, USA
    J Bone Miner Res 29:1815-22. 2014
    ..2014 American Society for Bone and Mineral Research. ..
  23. ncbi Genetic heterogeneity in familial renal magnesium wasting
    Vitaly Kantorovich
    Burns and Allen Research Institute, University of Southern California, School of Medicine, Los Angeles, California 90033, USA
    J Clin Endocrinol Metab 87:612-7. 2002
    ..In conclusion, our data demonstrate locus heterogeneity for the phenotype of isolated renal Mg wasting with hypomagnesemia and suggest that hypomagnesemia, at least in this pedigree, may be associated with low bone mass...
  24. ncbi Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia
    Muhammad Faiyaz-Ul-Haque
    The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet 111:31-7. 2002
    ..The present report confirms that CDMP1 plays an important role in the regulation of axial bone growth during development and suggests that its absence does not impair other developmental processes...
  25. ncbi 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...
  26. ncbi Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain
    Robert Pogue
    Am J Med Genet A 138:75-8. 2005
  27. 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...
  28. ncbi [Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin]
    Maria Luisa Martinez-Frias
    ECEMC, Centro de Investigación sobre Anomalías Congénitas CIAC, Instituto de Salud Carlos III, Madrid, Espana
    Med Clin (Barc) 128:137-40. 2007
    ..It is inherited as an autosomal recessive condition, its gene (DYM) having been mapped in the 18q12-21.1 chromosomal region. At least 21 different mutations of this gene have been reported...
  29. pmc The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type
    Gen Nishimura
    J Med Genet 44:e73. 2007
    ..Our experience expands the phenotypic spectrum of SBDS mutations, which, at its severest end, results in severe neonatal SMD...
  30. 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...
  31. ncbi Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human
    Shuichi Hiraoka
    Laboratory for Developmental Genetics, RIKEN Research Center for Allergy and Immunology, 1 7 22 Suehirocho, Tsurumi ku, Yokohama, Kanagawa 230 0045, Japan
    Nat Med 13:1363-7. 2007
    ..Our findings highlight the crucial role of NSTs in proteoglycan function and cartilage metabolism, thus revealing a new paradigm for skeletal disease and glycobiology...