Daniel H Cohn

Daniel H Cohn

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Daniel H Cohn

Daniel H Cohn

Publications by authors named "Daniel H Cohn"

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

Am J Med Genet A 2019 Aug 3;179(8):1672-1677. Epub 2019 Jun 3.

Department of Molecular, Cell and Developmental Biology, University of California, Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.61208DOI Listing
August 2019

Dominant-negative SOX9 mutations in campomelic dysplasia.

Hum Mutat 2019 Aug 7. Epub 2019 Aug 7.

Departments of Orthopaedic Surgery, University of California Los Angeles, Los Angeles, California, USA.

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http://dx.doi.org/10.1002/humu.23888DOI Listing
August 2019

Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.

Am J Med Genet A 2018 12 18;176(12):2887-2891. Epub 2018 Nov 18.

Department of Pediatrics, Division of Medical Genetics, Stanford University Medical Center, Stanford, California.

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http://doi.wiley.com/10.1002/ajmg.a.40647
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http://dx.doi.org/10.1002/ajmg.a.40647DOI Listing
December 2018

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

Sci Transl Med 2018 Sep;10(459)

Department of Orthopaedic Surgery, University of California-Los Angeles, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1126/scitranslmed.aat9356DOI Listing
September 2018

Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network.

BMC Genomics 2017 Dec 20;18(1):983. Epub 2017 Dec 20.

Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, CA, Los Angeles, USA.

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http://dx.doi.org/10.1186/s12864-017-4378-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5738906PMC
December 2017

MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.

Am J Med Genet A 2017 Sep 25;173(9):2415-2421. Epub 2017 Jul 25.

Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.38349DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5564418PMC
September 2017

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

J Bone Miner Res 2017 Jun 6;32(6):1309-1319. Epub 2017 Apr 6.

Department of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.1002/jbmr.3095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5466459PMC
June 2017

Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

Am J Med Genet A 2016 12 17;170(12):3298-3302. Epub 2016 Aug 17.

Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, Los Angeles.

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http://dx.doi.org/10.1002/ajmg.a.37942DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5115972PMC
December 2016

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

PLoS Genet 2016 09 13;12(9):e1006307. Epub 2016 Sep 13.

Department of Molecular, Cell, and Developmental Biology, University of California Los Angeles, Los Angeles, California, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1006307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021280PMC
September 2016

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

Sci Rep 2016 Sep 26;6:34232. Epub 2016 Sep 26.

Department of Orthopaedic Surgery, David Geffen School of Medicine at the University of California at Los Angeles, Los Angeles, California, 90095, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035930PMC
http://dx.doi.org/10.1038/srep34232DOI Listing
September 2016

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.

J Med Genet 2016 06 15;53(6):427-30. Epub 2015 Dec 15.

Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA Genetic Medicine Central California, Fresno, California, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898782PMC
June 2016

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

PLoS Genet 2016 Mar 28;12(3):e1005936. Epub 2016 Mar 28.

Department of Human Genetics, David Geffen School of Medicine at the University of California at Los Angeles, Los Angeles, California, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005936DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4809497PMC
March 2016

A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).

Am J Med Genet A 2015 Oct 22;167A(10):2470-3. Epub 2015 May 22.

Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.37173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5036935PMC
October 2015

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

Nat Commun 2015 Jun 16;6:7092. Epub 2015 Jun 16.

1] Department of Human Genetics, University of California, Los Angeles, Los Angeles, California 90095, USA [2] Department of Orthopaedic Surgery and Orthopaedic Institute for Children, University of California, Los Angeles, Los Angeles, California 90095, USA [3] International Skeletal Dysplasia Registry, University of California, Los Angeles, Los Angeles, California 90095, USA.

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http://dx.doi.org/10.1038/ncomms8092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470332PMC
June 2015

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

Hum Mol Genet 2015 Apr 15;24(7):1918-28. Epub 2014 Dec 15.

Department of Orthopaedic Surgery, Department of Molecular, Cell, and Developmental Biology, University of California at Los Angeles, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1093/hmg/ddu608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4355024PMC
April 2015

Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.

Am J Med Genet A 2014 Sep 20;164A(9):2407-11. Epub 2014 Jun 20.

Department of Molecular, Cell and Developmental Biology, University of California Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.36640DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4134718PMC
September 2014

Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders.

J Bone Miner Res 2014 Aug;29(8):1815-1822

Department of Molecular, Cell, and Developmental Biology, Orthopaedic Hospital Research Center, University of California, Los Angeles, CA 90095.

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http://dx.doi.org/10.1002/jbmr.2220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4108531PMC
August 2014

Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformations.

FASEB J 2014 Jun 27;28(6):2525-37. Epub 2014 Feb 27.

Department of Neurology, Duke University Clinics for Pain and Palliative Care, Duke University Medical Center, Durham, North Carolina, USA; and

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http://dx.doi.org/10.1096/fj.13-245936DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021446PMC
June 2014

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

Am J Hum Genet 2013 Nov 31;93(5):926-31. Epub 2013 Oct 31.

Department of Genetics, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris 75015, France.

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http://dx.doi.org/10.1016/j.ajhg.2013.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824112PMC
November 2013

Exome sequencing identifies PDE4D mutations in acrodysostosis.

Am J Hum Genet 2012 Apr 29;90(4):746-51. Epub 2012 Mar 29.

Department of Human Genetics, University of California-Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1016/j.ajhg.2012.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3322224PMC
April 2012

Peptidyl 3-hydroxyproline binding properties of type I collagen suggest a function in fibril supramolecular assembly.

Biochemistry 2012 Mar 15;51(12):2417-24. Epub 2012 Mar 15.

Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington 98195-6500, United States.

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http://dx.doi.org/10.1021/bi2019139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3314591PMC
March 2012

Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.

Am J Med Genet A 2012 Feb 13;158A(2):309-14. Epub 2012 Jan 13.

Department of Molecular Cell and Developmental Biology, University of California, Los Angeles, California, USA.

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http://doi.wiley.com/10.1002/ajmg.a.34406
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http://dx.doi.org/10.1002/ajmg.a.34406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3264686PMC
February 2012

The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family).

Pediatr Radiol 2012 Jan 24;42(1):15-23. Epub 2011 Aug 24.

International Skeletal Dysplasia Registry, Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048, USA.

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http://link.springer.com/10.1007/s00247-011-2229-6
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http://dx.doi.org/10.1007/s00247-011-2229-6DOI Listing
January 2012

Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin.

Mol Cell Biochem 2010 May 24;338(1-2):215-24. Epub 2009 Dec 24.

Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Los Angeles, CA 90048, USA.

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http://dx.doi.org/10.1007/s11010-009-0355-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3150962PMC
May 2010

Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.

Am J Med Genet A 2010 May;152A(5):1169-77

Department of Orthopedic Surgery, University of California at Los Angeles, Los Angeles, CA 90048, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33392
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http://dx.doi.org/10.1002/ajmg.a.33392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169191PMC
May 2010

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.

Hum Mol Genet 2008 Mar 17;17(5):631-41. Epub 2007 Jul 17.

Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, SSB-371, Los Angeles, CA 90048, USA.

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http://dx.doi.org/10.1093/hmg/ddm188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2680151PMC
March 2008

[Dyggve-Melchior-Clausen syndrome: presentation of a case with a mutation of possible Spanish origin].

Med Clin (Barc) 2007 Feb;128(4):137-40

ECEMC, Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Madrid, España.

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February 2007

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia.

Pediatr Radiol 2005 Feb 21;35(2):116-23. Epub 2004 Oct 21.

Department of Pediatrics, International Skeletal Dysplasia Registry, UCLA School of Medicine, Radiological Services, 405 Hilgard Ave., Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1007/s00247-004-1323-4DOI Listing
February 2005

A transcriptional profile of human fetal cartilage.

Matrix Biol 2004 Aug;23(5):299-307

Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Cedars-Sinai Medical Center, 8700 Beverly Blvd., Los Angeles, CA 90048 USA.

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http://dx.doi.org/10.1016/j.matbio.2004.07.003DOI Listing
August 2004

Isolation of a new member of the ADP-ribosylation like factor gene family, ARL8, from a cartilage cDNA library.

Gene 2003 Jun;311:147-51

Department of Obstetrics and Gynecology, Burns and Allen Cedars-Sinai Research Institute, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.

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http://dx.doi.org/10.1016/s0378-1119(03)00584-5DOI Listing
June 2003

Analysis of clones from a human cartilage cDNA library provides insight into chondrocyte gene expression and identifies novel candidate genes for the osteochondrodysplasias.

Mol Genet Metab 2003 May;79(1):34-42

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.

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May 2003

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.

Eur J Hum Genet 2003 Mar;11(3):265-70

Collagen Research Unit, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Finland.

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http://dx.doi.org/10.1038/sj.ejhg.5200950DOI Listing
March 2003

Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.

Am J Hum Genet 2003 Feb 16;72(2):419-28. Epub 2002 Dec 16.

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.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970760550
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http://dx.doi.org/10.1086/346176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC420018PMC
February 2003

Genetic heterogeneity in familial renal magnesium wasting.

J Clin Endocrinol Metab 2002 Feb;87(2):612-7

Burns and Allen Research Institute, University of Southern California, School of Medicine, Los Angeles, California 90033, USA.

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http://dx.doi.org/10.1210/jcem.87.2.8071DOI Listing
February 2002