DOI: 10.1128/mcb.21.22.7707-7713.2001. Targeted Disruption of the Myocilin Gene (<i>Myoc</i>) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function

Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function

10.1128/mcb.21.22.7707-7713.2001

Crossref journal-article

Informa UK Limited

Molecular and Cellular Biology (301)

Bibliography

Kim, B. S., Savinova, O. V., Reedy, M. V., Martin, J., Lun, Y., Gan, L., Smith, R. S., Tomarev, S. I., John, S. W. M., & Johnson, R. L. (2001). Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function. Molecular and Cellular Biology, 21(22), 7707â7713.

Authors 10

Byong Su Kim (first)
Olga V. Savinova (additional)
Mark V. Reedy (additional)
Janice Martin (additional)
Yi Lun (additional)
Lin Gan (additional)
Richard S. Smith (additional)
Stanislav I. Tomarev (additional)
Simon W. M. John (additional)
Randy L. Johnson (additional)

References 36 Referenced 183

10.1007/s003359900844 / Mamm. Genome by Abderrahim H. (1998)
10.1093/hmg/6.12.2091
10.1006/dbio.1996.0330 / Dev. Biol. by Albrecht U. (1996)
10.1016/S0092-8674(00)81527-5
10.1038/ng0598-51
{'volume-title': 'Atlas of glaucoma.', 'year': '1998', 'author': 'Choplin N. T.', 'key': 'B6'} / Atlas of glaucoma. by Choplin N. T. (1998)
10.1093/hmg/6.3.457
10.1038/ng0294-168
{'key': 'B9', 'first-page': '22', 'volume': '5', 'author': 'Hawes N. L.', 'year': '1999', 'journal-title': 'Mol. Vis.'} / Mol. Vis. by Hawes N. L. (1999)
10.1093/hmg/10.2.117
{'key': 'B11', 'first-page': '249', 'volume': '38', 'author': 'John S. W.', 'year': '1997', 'journal-title': 'Investig. Ophthalmol. Vis. Sci.'} / Investig. Ophthalmol. Vis. Sci. by John S. W. (1997)
{'key': 'B12', 'first-page': '951', 'volume': '39', 'author': 'John S. W.', 'year': '1998', 'journal-title': 'Investig. Ophthalmol. Vis. Sci.'} / Investig. Ophthalmol. Vis. Sci. by John S. W. (1998)
{'key': 'B13', 'first-page': '729', 'volume': '41', 'author': 'Karali A.', 'year': '2000', 'journal-title': 'Investig. Ophthalmol. Vis. Sci.'} / Investig. Ophthalmol. Vis. Sci. by Karali A. (2000)
10.1006/dbio.1999.9314
10.1006/geno.1997.4682
10.1093/hmg/7.7.1113 / Hum. Mol. Genet. by Kulak S. C. (1998)
10.1017/S0016672300004584
{'key': 'B18', 'first-page': '1386', 'volume': '41', 'author': 'Lam D. S.', 'year': '2000', 'journal-title': 'Investig. Ophthalmol. Vis. Sci.'} / Investig. Ophthalmol. Vis. Sci. by Lam D. S. (2000)
10.1016/S1350-9462(98)00011-1
10.1038/1203
10.1074/jbc.273.11.6341
10.1038/493
10.1159/000310780
{'key': 'B24', 'first-page': '83', 'volume': '38', 'author': 'Quigley H. A.', 'year': '1997', 'journal-title': 'Investig. Ophthalmol. Vis. Sci.'} / Investig. Ophthalmol. Vis. Sci. by Quigley H. A. (1997)
{'key': 'B25', 'volume-title': 'Textbook of glaucoma', 'author': 'Shields M. B.', 'year': '1997', 'edition': '4'} / Textbook of glaucoma by Shields M. B. (1997)
10.1093/hmg/9.7.1021
10.1186/1471-213X-1-3
10.3109/13816819709057124
10.1136/jmg.35.12.989
10.1126/science.275.5300.668
10.1086/301612
10.1016/S0169-328X(99)00085-6
10.1006/bbrc.1998.8917
10.1006/bbrc.1998.8541
10.1093/hmg/7.7.1091
10.1073/pnas.90.10.4655

Dates

Type	When
Created	23 years, 1 month ago (July 27, 2002, 2:03 a.m.)
Deposited	2 years, 5 months ago (March 28, 2023, 3:11 a.m.)
Indexed	3 days, 14 hours ago (Sept. 3, 2025, 6:16 a.m.)
Issued	23 years, 10 months ago (Nov. 1, 2001)
Published	23 years, 10 months ago (Nov. 1, 2001)
Published Online	2 years, 5 months ago (March 28, 2023)
Published Print	23 years, 10 months ago (Nov. 1, 2001)

Funders 0

None

BibTeX

@article{Kim_2001, title={Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function}, volume={21}, ISSN={1098-5549}, url={http://dx.doi.org/10.1128/mcb.21.22.7707-7713.2001}, DOI={10.1128/mcb.21.22.7707-7713.2001}, number={22}, journal={Molecular and Cellular Biology}, publisher={Informa UK Limited}, author={Kim, Byong Su and Savinova, Olga V. and Reedy, Mark V. and Martin, Janice and Lun, Yi and Gan, Lin and Smith, Richard S. and Tomarev, Stanislav I. and John, Simon W. M. and Johnson, Randy L.}, year={2001}, month=nov, pages={7707–7713} }

JSON

{
  "indexed": {
    "date-parts": [
      [
        2025,
        9,
        3
      ]
    ],
    "date-time": "2025-09-03T10:16:35Z",
    "timestamp": 1756894595213
  },
  "reference-count": 36,
  "publisher": "Informa UK Limited",
  "issue": "22",
  "license": [
    {
      "start": {
        "date-parts": [
          [
            2001,
            11,
            1
          ]
        ],
        "date-time": "2001-11-01T00:00:00Z",
        "timestamp": 1004572800000
      },
      "content-version": "tdm",
      "delay-in-days": 0,
      "URL": "https://journals.asm.org/non-commercial-tdm-license"
    }
  ],
  "content-domain": {
    "domain": [
      "journals.asm.org"
    ],
    "crossmark-restriction": true
  },
  "published-print": {
    "date-parts": [
      [
        2001,
        11,
        1
      ]
    ]
  },
  "DOI": "10.1128/mcb.21.22.7707-7713.2001",
  "type": "journal-article",
  "created": {
    "date-parts": [
      [
        2002,
        7,
        27
      ]
    ],
    "date-time": "2002-07-27T06:03:53Z",
    "timestamp": 1027749833000
  },
  "page": "7707-7713",
  "update-policy": "http://dx.doi.org/10.1128/asmj-crossmark-policy-page",
  "source": "Crossref",
  "is-referenced-by-count": 183,
  "title": "Targeted Disruption of the Myocilin Gene (<i>Myoc</i>) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function",
  "prefix": "10.1080",
  "volume": "21",
  "author": [
    {
      "given": "Byong Su",
      "family": "Kim",
      "sequence": "first",
      "affiliation": [
        {
          "name": "Department of Biochemistry and Molecular Biology"
        }
      ]
    },
    {
      "given": "Olga V.",
      "family": "Savinova",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "The Jackson Laboratory"
        }
      ]
    },
    {
      "given": "Mark V.",
      "family": "Reedy",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Department of Biochemistry and Molecular Biology"
        }
      ]
    },
    {
      "given": "Janice",
      "family": "Martin",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "The Jackson Laboratory"
        }
      ]
    },
    {
      "given": "Yi",
      "family": "Lun",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Department of Biochemistry and Molecular Biology"
        }
      ]
    },
    {
      "given": "Lin",
      "family": "Gan",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Department of Biochemistry and Molecular Biology"
        },
        {
          "name": "Center for Aging and Developmental Biology, University of Rochester, Rochester, New York 14642"
        }
      ]
    },
    {
      "given": "Richard S.",
      "family": "Smith",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "The Jackson Laboratory"
        },
        {
          "name": "The Howard Hughes Medical Institute, Bar Harbor, Maine 04609"
        }
      ]
    },
    {
      "given": "Stanislav I.",
      "family": "Tomarev",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Laboratory of Molecular and Developmental Biology, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892"
        }
      ]
    },
    {
      "given": "Simon W. M.",
      "family": "John",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "The Jackson Laboratory"
        },
        {
          "name": "The Howard Hughes Medical Institute, Bar Harbor, Maine 04609"
        },
        {
          "name": "Department of Ophthalmology Tufts University School of Medicine, Boston, Massachusetts 02111"
        }
      ]
    },
    {
      "given": "Randy L.",
      "family": "Johnson",
      "sequence": "additional",
      "affiliation": [
        {
          "name": "Department of Biochemistry and Molecular Biology"
        },
        {
          "name": "Program in Genes and Development, University of Texas, M. D. Anderson Cancer Center, Houston, Texas 77030"
        }
      ]
    }
  ],
  "member": "301",
  "published-online": {
    "date-parts": [
      [
        2023,
        3,
        28
      ]
    ]
  },
  "reference": [
    {
      "key": "B1",
      "doi-asserted-by": "crossref",
      "first-page": "673",
      "DOI": "10.1007/s003359900844",
      "volume": "9",
      "author": "Abderrahim H.",
      "year": "1998",
      "journal-title": "Mamm. Genome"
    },
    {
      "key": "B2",
      "doi-asserted-by": "publisher",
      "DOI": "10.1093/hmg/6.12.2091"
    },
    {
      "key": "B3",
      "doi-asserted-by": "crossref",
      "first-page": "579",
      "DOI": "10.1006/dbio.1996.0330",
      "volume": "180",
      "author": "Albrecht U.",
      "year": "1996",
      "journal-title": "Dev. Biol."
    },
    {
      "key": "B4",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/S0092-8674(00)81527-5"
    },
    {
      "key": "B5",
      "doi-asserted-by": "publisher",
      "DOI": "10.1038/ng0598-51"
    },
    {
      "volume-title": "Atlas of glaucoma.",
      "year": "1998",
      "author": "Choplin N. T.",
      "key": "B6"
    },
    {
      "key": "B7",
      "doi-asserted-by": "publisher",
      "DOI": "10.1093/hmg/6.3.457"
    },
    {
      "key": "B8",
      "doi-asserted-by": "publisher",
      "DOI": "10.1038/ng0294-168"
    },
    {
      "key": "B9",
      "first-page": "22",
      "volume": "5",
      "author": "Hawes N. L.",
      "year": "1999",
      "journal-title": "Mol. Vis."
    },
    {
      "key": "B10",
      "doi-asserted-by": "publisher",
      "DOI": "10.1093/hmg/10.2.117"
    },
    {
      "key": "B11",
      "first-page": "249",
      "volume": "38",
      "author": "John S. W.",
      "year": "1997",
      "journal-title": "Investig. Ophthalmol. Vis. Sci."
    },
    {
      "key": "B12",
      "first-page": "951",
      "volume": "39",
      "author": "John S. W.",
      "year": "1998",
      "journal-title": "Investig. Ophthalmol. Vis. Sci."
    },
    {
      "key": "B13",
      "first-page": "729",
      "volume": "41",
      "author": "Karali A.",
      "year": "2000",
      "journal-title": "Investig. Ophthalmol. Vis. Sci."
    },
    {
      "key": "B14",
      "doi-asserted-by": "publisher",
      "DOI": "10.1006/dbio.1999.9314"
    },
    {
      "key": "B15",
      "doi-asserted-by": "publisher",
      "DOI": "10.1006/geno.1997.4682"
    },
    {
      "key": "B16",
      "doi-asserted-by": "crossref",
      "first-page": "1113",
      "DOI": "10.1093/hmg/7.7.1113",
      "volume": "7",
      "author": "Kulak S. C.",
      "year": "1998",
      "journal-title": "Hum. Mol. Genet."
    },
    {
      "key": "B17",
      "doi-asserted-by": "publisher",
      "DOI": "10.1017/S0016672300004584"
    },
    {
      "key": "B18",
      "first-page": "1386",
      "volume": "41",
      "author": "Lam D. S.",
      "year": "2000",
      "journal-title": "Investig. Ophthalmol. Vis. Sci."
    },
    {
      "key": "B19",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/S1350-9462(98)00011-1"
    },
    {
      "key": "B20",
      "doi-asserted-by": "publisher",
      "DOI": "10.1038/1203"
    },
    {
      "key": "B21",
      "doi-asserted-by": "publisher",
      "DOI": "10.1074/jbc.273.11.6341"
    },
    {
      "key": "B22",
      "doi-asserted-by": "publisher",
      "DOI": "10.1038/493"
    },
    {
      "key": "B23",
      "doi-asserted-by": "publisher",
      "DOI": "10.1159/000310780"
    },
    {
      "key": "B24",
      "first-page": "83",
      "volume": "38",
      "author": "Quigley H. A.",
      "year": "1997",
      "journal-title": "Investig. Ophthalmol. Vis. Sci."
    },
    {
      "key": "B25",
      "volume-title": "Textbook of glaucoma",
      "author": "Shields M. B.",
      "year": "1997",
      "edition": "4"
    },
    {
      "key": "B26",
      "doi-asserted-by": "publisher",
      "DOI": "10.1093/hmg/9.7.1021"
    },
    {
      "key": "B27",
      "doi-asserted-by": "publisher",
      "DOI": "10.1186/1471-213X-1-3"
    },
    {
      "key": "B28",
      "doi-asserted-by": "publisher",
      "DOI": "10.3109/13816819709057124"
    },
    {
      "key": "B29",
      "doi-asserted-by": "publisher",
      "DOI": "10.1136/jmg.35.12.989"
    },
    {
      "key": "B30",
      "doi-asserted-by": "publisher",
      "DOI": "10.1126/science.275.5300.668"
    },
    {
      "key": "B31",
      "doi-asserted-by": "publisher",
      "DOI": "10.1086/301612"
    },
    {
      "key": "B32",
      "doi-asserted-by": "publisher",
      "DOI": "10.1016/S0169-328X(99)00085-6"
    },
    {
      "key": "B33",
      "doi-asserted-by": "publisher",
      "DOI": "10.1006/bbrc.1998.8917"
    },
    {
      "key": "B34",
      "doi-asserted-by": "publisher",
      "DOI": "10.1006/bbrc.1998.8541"
    },
    {
      "key": "B35",
      "doi-asserted-by": "publisher",
      "DOI": "10.1093/hmg/7.7.1091"
    },
    {
      "key": "B36",
      "doi-asserted-by": "publisher",
      "DOI": "10.1073/pnas.90.10.4655"
    }
  ],
  "container-title": "Molecular and Cellular Biology",
  "original-title": [],
  "language": "en",
  "link": [
    {
      "URL": "https://journals.asm.org/doi/pdf/10.1128/MCB.21.22.7707-7713.2001",
      "content-type": "application/pdf",
      "content-version": "vor",
      "intended-application": "text-mining"
    },
    {
      "URL": "https://www.tandfonline.com/doi/pdf/10.1128/MCB.21.22.7707-7713.2001",
      "content-type": "unspecified",
      "content-version": "vor",
      "intended-application": "similarity-checking"
    }
  ],
  "deposited": {
    "date-parts": [
      [
        2023,
        3,
        28
      ]
    ],
    "date-time": "2023-03-28T07:11:10Z",
    "timestamp": 1679987470000
  },
  "score": 1,
  "resource": {
    "primary": {
      "URL": "https://www.tandfonline.com/doi/full/10.1128/MCB.21.22.7707-7713.2001"
    }
  },
  "subtitle": [],
  "short-title": [],
  "issued": {
    "date-parts": [
      [
        2001,
        11,
        1
      ]
    ]
  },
  "references-count": 36,
  "journal-issue": {
    "issue": "22",
    "published-print": {
      "date-parts": [
        [
          2001,
          11,
          1
        ]
      ]
    }
  },
  "alternative-id": [
    "10.1128/MCB.21.22.7707-7713.2001"
  ],
  "URL": "http://dx.doi.org/10.1128/MCB.21.22.7707-7713.2001",
  "relation": {},
  "ISSN": [
    "1098-5549"
  ],
  "subject": [],
  "container-title-short": "Molecular and Cellular Biology",
  "published": {
    "date-parts": [
      [
        2001,
        11,
        1
      ]
    ]
  },
  "assertion": [
    {
      "value": "2001-04-04",
      "order": 0,
      "name": "received",
      "label": "Received",
      "group": {
        "name": "publication_history",
        "label": "Publication History"
      }
    },
    {
      "value": "2001-08-06",
      "order": 1,
      "name": "accepted",
      "label": "Accepted",
      "group": {
        "name": "publication_history",
        "label": "Publication History"
      }
    },
    {
      "value": "2001-11-15",
      "order": 2,
      "name": "published",
      "label": "Published",
      "group": {
        "name": "publication_history",
        "label": "Publication History"
      }
    }
  ]
}