J Graw

Summary

Affiliation: GSF-National Research Center for Environment and Health
Country: Germany

Publications

  1. ncbi Aey2, a new mutation in the betaB2-crystallin-encoding gene of the mouse
    J Graw
    Forschungszentrum für Umwelt und Gesundheit GSF Institute of Experimental Genetics, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 42:1574-80. 2001
  2. ncbi Ethylnitrosourea-induced base pair substitution affects splicing of the mouse gammaE-crystallin encoding gene leading to the expression of a hybrid protein and to a cataract
    Jochen Graw
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, D 85764 Neuherberg, Germany
    Genetics 161:1633-40. 2002
  3. ncbi The genetic and molecular basis of congenital eye defects
    Jochen Graw
    GSF National Research Center for Environment and Health, Institute of Developmental Genetics, D 85764 Neuherberg, Germany
    Nat Rev Genet 4:876-88. 2003
  4. ncbi Characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataract
    J Graw
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Neuherberg, D 85764, Germany
    Exp Eye Res 73:867-76. 2001
  5. ncbi Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse
    J Graw
    Institute of Mammalian Genetics, GSF Research Center for Environment and Health, Neuherberg, D 85764, Germany
    Genomics 62:67-73. 1999
  6. ncbi Mouse models of congenital cataract
    J Graw
    GSF Forschungszentrum für Umwelt und Gesundheit Institut für Säugetiergenetik, Neuherberg Germany
    Eye (Lond) 13:438-44. 1999
  7. ncbi A 6-bp deletion in the Crygc gene leading to a nuclear and radial cataract in the mouse
    Jochen Graw
    National Research Center for Environment and Health Forschungszentrum für Umwelt und Gesundheit, Institute of Mammalian Genetics, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 43:236-40. 2002
  8. ncbi Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene
    J Graw
    National Research Center for Environment and Health GSF, Institute of Mammalian Genetics, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 42:2909-15. 2001
  9. ncbi Ethylnitrosourea-induced mutation in mice leads to the expression of a novel protein in the eye and to dominant cataracts
    J Graw
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, D 85764 Neuherberg, Germany
    Genetics 157:1313-20. 2001
  10. ncbi Crygf(Rop): the first mutation in the Crygf gene causing a unique radial lens opacity
    Jochen Graw
    National Research Center for Environment and Health GSF, Institute of Mammalian Genetics, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 43:2998-3002. 2002

Detail Information

Publications75

  1. ncbi Aey2, a new mutation in the betaB2-crystallin-encoding gene of the mouse
    J Graw
    Forschungszentrum für Umwelt und Gesundheit GSF Institute of Experimental Genetics, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 42:1574-80. 2001
    ..One particular mutant was found that caused progressive opacity and was referred to as Aey2. The purpose of the study was to provide a morphologic description, to map the mutant gene, and to characterize the underlying molecular lesion...
  2. ncbi Ethylnitrosourea-induced base pair substitution affects splicing of the mouse gammaE-crystallin encoding gene leading to the expression of a hybrid protein and to a cataract
    Jochen Graw
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, D 85764 Neuherberg, Germany
    Genetics 161:1633-40. 2002
    ..Histological analysis of the cataractous lenses indicated that the expression of the new protein disrupts the cellular structure of the eye lens...
  3. ncbi The genetic and molecular basis of congenital eye defects
    Jochen Graw
    GSF National Research Center for Environment and Health, Institute of Developmental Genetics, D 85764 Neuherberg, Germany
    Nat Rev Genet 4:876-88. 2003
    ..A better understanding of how this intricate organ develops at the genetic and cellular level is central to our understanding of the pathologies that afflict it...
  4. ncbi Characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataract
    J Graw
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Neuherberg, D 85764, Germany
    Exp Eye Res 73:867-76. 2001
    ..Since both mutations affect similar regions in the first extracellular domain this region appears to be critically important for its function in lens transparency...
  5. ncbi Mutation in the betaA3/A1-crystallin encoding gene Cryba1 causes a dominant cataract in the mouse
    J Graw
    Institute of Mammalian Genetics, GSF Research Center for Environment and Health, Neuherberg, D 85764, Germany
    Genomics 62:67-73. 1999
    ..The mutation will be referred to as Cryba1(po1). This particular mouse mutation provides an excellent animal model for a human congenital zonular cataract with suture opacities, which is caused by a mutation in the homologous gene...
  6. ncbi Mouse models of congenital cataract
    J Graw
    GSF Forschungszentrum für Umwelt und Gesundheit Institut für Säugetiergenetik, Neuherberg Germany
    Eye (Lond) 13:438-44. 1999
    ..The Cat2 mutants are interesting models for human cataracts caused by mutations in the human CRYG genes at chromosome 2q32-35...
  7. ncbi A 6-bp deletion in the Crygc gene leading to a nuclear and radial cataract in the mouse
    Jochen Graw
    National Research Center for Environment and Health Forschungszentrum für Umwelt und Gesundheit, Institute of Mammalian Genetics, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 43:236-40. 2002
    ..The purpose of this study was to establish the linkage of the mutation to a particular chromosome to allow molecular characterization. Moreover, the mutants were examined morphologically...
  8. ncbi Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene
    J Graw
    National Research Center for Environment and Health GSF, Institute of Mammalian Genetics, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 42:2909-15. 2001
    ..The purpose of the study was morphologic description, mapping of the mutant gene, and characterization of the underlying molecular lesion in a particular mutant, Aey7...
  9. ncbi Ethylnitrosourea-induced mutation in mice leads to the expression of a novel protein in the eye and to dominant cataracts
    J Graw
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, D 85764 Neuherberg, Germany
    Genetics 157:1313-20. 2001
    ..Therefore, it is concluded that the novel protein destroys the sensitive cellular structure of the eye lens...
  10. ncbi Crygf(Rop): the first mutation in the Crygf gene causing a unique radial lens opacity
    Jochen Graw
    National Research Center for Environment and Health GSF, Institute of Mammalian Genetics, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 43:2998-3002. 2002
    ..The Rop (radial opacity) mutation, which was recovered in a mutagenicity screen after paternal treatment with procarbazine, was analyzed to determine phenotype, chromosomal localization, candidate genes, and molecular lesion...
  11. ncbi V76D mutation in a conserved gD-crystallin region leads to dominant cataracts in mice
    Jochen Graw
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, D 85764 Neuherberg, Germany
    Mamm Genome 13:452-5. 2002
    ..5 pH units in the 10 amino acids surrounding position 76. The Crygd(Aey4) additionally demonstrates the importance of the integrity of the Cryg gene cluster for lens transparency...
  12. ncbi Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P
    Jochen Graw
    GSF National Research Center for Environment and Health, Institute of Developmental Genetics, D 85764, Neuherberg, Germany
    Graefes Arch Clin Exp Ophthalmol 244:912-9. 2006
    ..To test the hypothesis that a de-novo mutation had occurred in one of the parental germ lines, a functional candidate gene approach was applied...
  13. ncbi Haemophilia A: from mutation analysis to new therapies
    Jochen Graw
    GSF National Research Centre for Environment and Health, Institute of Developmental Genetics, D 85764 Neuherberg, Germany
    Nat Rev Genet 6:488-501. 2005
    ..Haemophilia is also the most attractive model for developing gene-therapy protocols, as the normal life expectancy of haemophiliacs allows the side effects of gene therapy, as well as its efficiency, to be monitored over long periods...
  14. ncbi Congenital hereditary cataracts
    Jochen Graw
    GSF National Research Center for Environment and Health, Institute of Developmental Genetics, Neuherberg, Germany
    Int J Dev Biol 48:1031-44. 2004
    ....
  15. ncbi Genetic and allelic heterogeneity of Cryg mutations in eight distinct forms of dominant cataract in the mouse
    Jochen Graw
    Institute of Developmental Genetics, GSF National Research Center for Environment and Health, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 45:1202-13. 2004
    ..The purpose of this study was the characterization of eight new dominant cataract mutations...
  16. ncbi Mutation in intron 6 of the hamster Mitf gene leads to skipping of the subsequent exon and creates a novel animal model for the human Waardenburg syndrome type II
    Jochen Graw
    GSF National Research Center for Environment and Health, Institute of Developmental Genetics, D 85764 Neuherberg, Germany
    Genetics 164:1035-41. 2003
    ..Therefore, the Wh(V203) hamster mutant provides a novel model for this particular syndrome...
  17. ncbi Three novel Pax6 alleles in the mouse leading to the same small-eye phenotype caused by different consequences at target promoters
    Jochen Graw
    Institute of Developmental Genetics, GSF National Research Center for Environment and Health, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 46:4671-83. 2005
    ..To characterize three new mouse small-eye mutants detected during ethylnitrosourea mutagenesis programs...
  18. ncbi Developmental genetics in ophthalmology
    Jochen Graw
    Institute of Developmental Genetics, GSF National Research Center for Environment and Health, Neuherberg, Germany
    Ophthalmic Genet 24:1-33. 2003
    ..Since at least one of them is also expressed in the retina and the brain, effects on these tissues have to be considered, too...
  19. ncbi Detection of a point mutation (A to G) in exon 5 of the murine Mgf gene defines a novel allele at the Steel locus with a weak phenotype
    J Graw
    Institute of Mammalian Genetics, GSF National Research Center for Environment and Health, Neuherberg, Germany
    Mutat Res 382:75-8. 1997
    ..This single amino acid exchange is outside of the known important domains of MGF and explains the weak phenotype of MgfSl-3Neu...
  20. ncbi Aphakia (ak), a mouse mutation affecting early eye development: fine mapping, consideration of candidate genes and altered Pax6 and Six3 gene expression pattern
    C Grimm
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Neuherberg, Germany
    Dev Genet 23:299-316. 1998
    ..As a consequence of the arrested lens development, other ocular tissues that require for their development information from the intact lens, such as iris, ciliary muscle, retina, and vitreous body, are absent or formed abnormally...
  21. ncbi Three murine cataract mutants (Cat2) are defective in different gamma-crystallin genes
    N Klopp
    Institute of Mammalian Genetics, GSF National Research Center for Environment and Health, Neuherberg, D 85764, Germany
    Genomics 52:152-8. 1998
    ..All three mutations are predicted to alter protein folding of the gamma-crystallins and result in lens cataract, but the phenotype for each is quite distinctive...
  22. ncbi Characterization of a 1-bp deletion in the gammaE-crystallin gene leading to a nuclear and zonular cataract in the mouse
    N Klopp
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 42:183-7. 2001
    ..Because several members of this group have been confirmed as mutations in the gene cluster coding for gamma-crystallins (CRYG:), these genes were now tested as candidates for Cat2(nz)...
  23. ncbi Antagonistic action of Six3 and Prox1 at the gamma-crystallin promoter
    J Lengler
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, D 85764 Neuherberg, Germany
    Nucleic Acids Res 29:515-26. 2001
    ..Since Prox1 and Six3 are present at the beginning of lens development, expression of CRYGD/e/f is predicted to remain low at this time. It increases as Six3 expression decreases during ongoing lens development...
  24. ncbi Genomic sequences of murine gamma B- and gamma C-crystallin-encoding genes: promoter analysis and complete evolutionary pattern of mouse, rat and human gamma-crystallins
    J Graw
    GSF Institut für Säugetiergenetik, Neuherberg, Germany
    Gene 136:145-56. 1993
    ....
  25. ncbi Expression of Crystallins, Pax6, Filensin, CP49, MIP, and MP20 in lens-derived cell lines
    E Krausz
    Institut fur Saugetiergenetik, GSF Forschungzentrum für Umwelt und Gesundheit, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 37:2120-8. 1996
    ....
  26. ncbi Mutation in a novel connexin-like gene (Gjf1) in the mouse affects early lens development and causes a variable small-eye phenotype
    Oliver Puk
    Institute of Developmental Genetics, Helmholtz Center Munich, German Research Center for Environmental Health, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 49:1525-32. 2008
    ..The purpose of the study was the characterization of the novel small-eye mutant Aey12 in the mouse...
  27. ncbi Isolation and embryonic expression of the novel mouse gene Hic1, the homologue of HIC1, a candidate gene for the Miller-Dieker syndrome
    C Grimm
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, D 85764 Neuherberg, Germany
    Hum Mol Genet 8:697-710. 1999
    ..g. anomalies of the heart, kidney, gastrointestinal tract and the limbs (OMIM 247200). Thus, HIC1 activity may correlate with the defective development of the nose, jaws, extremities, gastrointestinal tract and kidney in MDS patients...
  28. ncbi Molecular analysis of two new Steel mutations in mice shows a transversion or an insertion
    J Graw
    , Neuherberg, , Oberschleibetaheim, Germany
    Mamm Genome 7:843-6. 1996
  29. ncbi Reduced corneal thickness and enlarged anterior chamber in a novel ColVIIIa2G257D mutant mouse
    Oliver Puk
    Institute of Developmental Genetics, Helmholtz Center Munich, German Research Center for Environmental Health, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 50:5653-61. 2009
    ..The purpose of this study was the morphologic and genetic characterization of the novel eye size mutant Aca23 in the mouse...
  30. ncbi Close linkage of the dominant cataract mutations (Cat-2) with Idh-1 and cryge on mouse chromosome 1
    J Loster
    GSF Forschungszentrum für Umwelt und Gesundheit GmbH, Institut fur Saugetiergenetik, Neuherberg, Germany
    Genomics 23:240-2. 1994
    ....
  31. ncbi Regulation of the human SIX3 gene promoter
    J Lengler
    Institute of Mammalian Genetics, GSF National Research Center for Environment and Health, D 85764 Neuherberg, Germany
    Biochem Biophys Res Commun 287:372-6. 2001
    ..Furthermore, Six3 is regulated by its own negative feedback loop. In conclusion, SIX3 expression underlies a complex regulation, which is an important part to understand the network of transcription factors during eye development...
  32. ncbi Molecular analysis of four lactate dehydrogenase-A mutants in the mouse
    R Sandulache
    Institut fur Saugetiergenetik, GSF Forschungszentrum für Umwelt und Gesundheit, Neuherberg, Oberschleissheim, Germany
    Mamm Genome 5:777-80. 1994
    ..All ENU-induced mutations were A/T-->G/C transitions. The mutation events could be correlated with the biochemical and physiological alterations observed in affected mice...
  33. ncbi Cataract mutations and lens development
    J Graw
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Neuherberg, Germany
    Prog Retin Eye Res 18:235-67. 1999
    ..These data indicate a decreasing effect of the lens for the regulation of eye development during embryogenesis...
  34. ncbi Cat3vl and Cat3vao cataract mutations on mouse chromosome 10: phenotypic characterization, linkage studies and analysis of candidate genes
    J Loster
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Neuherberg, Germany
    Mol Gen Genet 257:97-102. 1997
    ..The recovery of the Cat3 mutations demonstrates the importance of the corresponding locus for proper eye development...
  35. ncbi A new Fgf10 mutation in the mouse leads to atrophy of the harderian gland and slit-eye phenotype in heterozygotes: a novel model for dry-eye disease?
    Oliver Puk
    Institutes of Developmental Genetics, Helmholtz Center Munich German Research Center for Environmental Health, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 50:4311-8. 2009
    ..The purpose of the present study was to characterize a new slit-eye phenotype in the mouse...
  36. ncbi Sequence analysis of the beta B2-crystallin cDNA of hamster containing a domain conserved among vertebrates
    K Zarbalis
    Institut fur Saugetiergenetik, GSF Forschungszentrum für Umwelt und Gesundheit, Neuherberg, Germany
    Gene 174:181-4. 1996
    ..This 36-aa domain contains a putative phosphorylation site for protein kinase C and is highly conserved among all known basic beta B-Cry; however, it can neither be detected in the acidic beta A-nor in the gamma-Cry...
  37. ncbi Electroretinography as a screening method for mutations causing retinal dysfunction in mice
    Claudia Dalke
    GSF-National Research Center for Environment and Health, Institutes of. Developmental Genetics, Clinical Cooperation Group Ophthalmogenetics, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 45:601-9. 2004
    ..CONCLUSIONS: The present results demonstrate the feasibility of ERG for screening a large number of mice to detect animals with functional retinal impairment...
  38. ncbi Pleiotropic effects in Eya3 knockout mice
    Torben Soker
    Helmholtz Center Munich, German Research Center for Environmental Health, Institute of Developmental Genetics, Neuherberg, Germany
    BMC Dev Biol 8:118. 2008
    ..The functions of its mammalian orthologs Eya1-4 are only partially understood and no mouse model exists for Eya3. Therefore, we characterized the phenotype of a new Eya3 knockout mouse mutant...
  39. ncbi Alpha-crystallins are involved in specific interactions with the murine gamma D/E/F-crystallin-encoding gene
    D Pietrowski
    GSF Forschungszentrum für Umwelt und Gesundheit, Institut fur Saugetiergenetik, Neuherberg, Germany
    Gene 144:171-8. 1994
    ..The results reported here point to a novel function of alpha-Cry besides the structural properties in the lens...
  40. ncbi Novel allele of crybb2 in the mouse and its expression in the brain
    Koustav Ganguly
    Institutes of Developmental Genetics, Helmholtz Center Munich, German Research Center for Environmental Health, Neuherberg, Germany
    Invest Ophthalmol Vis Sci 49:1533-41. 2008
    ..O377 was identified as a new dominant cataract mutation in mice after radiation experiments. The purpose of this study was to genetically characterize the mutation and to analyze its biological consequences...
  41. ncbi Polymorphism in the murine Tr2-11 gene encoding an orphan receptor, and its exclusion as a candidate gene for the cataract mutation Cat3
    T Immervoll
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Neuherberg, Germany
    Biol Chem 379:83-5. 1998
    ..The differences in the DNA sequence predict remarkable secondary and tertiary structure alterations of the corresponding protein. The structure model of the new Tr2-11 protein is very similar to related receptors...
  42. ncbi Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 ( 416insG ) mice
    Michael Rosemann
    Institute of Radiation Biology, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, Germany
    Mamm Genome 21:13-27. 2010
    ..It is the first mouse mutant carrying a point mutation within the coding region of Pitx3...
  43. ncbi Molecular dissection of Pax6 function: the specific roles of the paired domain and homeodomain in brain development
    Nicole Haubst
    GSF National Research Center for Environment and Health, Institute for Stem Cell Research, Neuherberg, Germany
    Development 131:6131-40. 2004
    ..These results therefore demonstrate a key role of the PD in brain development and implicate splicing as a pivotal factor regulating the potent neurogenic role of Pax6...
  44. ncbi "Sighted C3H" mice--a tool for analysing the influence of vision on mouse behaviour?
    Sabine M Hoelter
    Institute of Developmental Genetics, Helmholtz Center Munich German Research Center for Environmental Health GmbH, 85764 Neuherberg, Germany
    Front Biosci 13:5810-23. 2008
    ..These results emphasize the importance of comprehensive behavioural and physiological phenotyping...
  45. ncbi Further genetic heterogeneity for autosomal dominant human sutural cataracts
    Norman Klopp
    GSF National Research Center for Environment and Health, Institutes of Developmental Genetics, Neuherberg, Germany
    Ophthalmic Res 35:71-7. 2003
    ..The phenotype in this family is due to a mutation in another sutural cataract gene yet to be identified...
  46. ncbi Hereditary lactate dehydrogenase A-subunit deficiency as cause of early postimplantation death of homozygotes in Mus musculus
    S Merkle
    Institut fur Saugetiergenetik, GSF Forschungszentrum für Umwelt und Gesundheit GmbH, Neuherberg, Germany
    Genetics 131:413-21. 1992
    ..The distinct physiological consequences of the total absence of a functioning LDH-A subunit in mice and humans are discussed.(ABSTRACT TRUNCATED AT 250 WORDS)..
  47. ncbi Mouse models of cataract
    Jochen Graw
    Helmholtz Center Munich, German Research Center for Environmental Health, Institute of Developmental Genetics, Neuherberg, Germany
    J Genet 88:469-86. 2009
    ..By further understanding the pleiotropic effects of these genes, we might recognize cataracts as an easily visible biomarker for a number of systemic syndromes...
  48. ncbi Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans
    Natalia S Pellegata
    Institutes of Pathology, GSF National Research Center for Environment and Health, 85764 Neuherberg, Germany
    Proc Natl Acad Sci U S A 103:15558-63. 2006
    ..Our findings demonstrate that germ-line mutations in p27(Kip1) can predispose to the development of multiple endocrine tumors in both rats and humans...
  49. ncbi Mouse mutants as models for congenital retinal disorders
    Claudia Dalke
    GSF National Research Center for Environment and Health, Institute of Developmental Genetics, D 85764 Neuherberg, Germany
    Exp Eye Res 81:503-12. 2005
    ..Here we review some mouse models, which are related to hereditary disorders (mostly congenital) including retinitis pigmentosa, Leber's congenital amaurosis, macular disorders and optic atrophy...
  50. ncbi Variation of the response to the optokinetic drum among various strains of mice
    Oliver Puk
    GSF National Research Center for Environment and Health, Institute of Developmental Genetics, D 85764 Neuherberg, Germany
    Front Biosci 13:6269-75. 2008
    ..In conclusion, C57BL/6, 129 and JF1 represent appropriate inbred strains for high throughput screenings with the optokinetic drum...
  51. ncbi Allelic loss of chromosomes 8 and 19 in MENX-associated rat pheochromocytoma
    Alena Shyla
    Institute of Pathology, Helmholtz Zentrum München German Research Center for Environment and Health, Neuherberg, Germany
    Int J Cancer 126:2362-72. 2010
    ..Because of the high concordance of affected loci between rat and human tumors, studies of the MENX-associated pheochromocytomas should facilitate the identification of novel candidate genes implicated in their human counterpart...
  52. ncbi Variations of eye size parameters among different strains of mice
    Oliver Puk
    Institutes of Developmental Genetics, GSF-National Research Center for Environment and Health, D-85764, Neuherberg, Germany
    Mamm Genome 17:851-7. 2006
    ..Finally, wild-type intervals (mean +/- 3 SD) for axial length, anterior chamber depth, and cornea and lens thicknesses were calculated allowing a quick identification of pathologic outliers...
  53. ncbi The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation
    Jochen Graw
    Helmholtz Center Munich German Research Center for Environmental Health, Institute of Developmental Genetics, D 85764 Neuherberg, Germany
    Mol Vis 15:1881-5. 2009
    ..The aim of this study was the genetic, cellular, and physiological characterization of a connexin50 (CX50) variant identified in a child with congenital cataracts...
  54. ncbi Eye development
    Jochen Graw
    Helmholtz Center Munich German Research Center for Environmental Health, Institute of Developmental Genetics, Neuherberg, Germany
    Curr Top Dev Biol 90:343-86. 2010
    ..The relevance to human disorders is one of the major aspects covered throughout the review...
  55. ncbi Genetics of crystallins: cataract and beyond
    Jochen Graw
    Helmholtz Center Munich, German Research Center for Environmental Health, Institute of Developmental Genetics, D 85764 Neuherberg, Germany
    Exp Eye Res 88:173-89. 2009
    ..Mutations in the human CRYM gene lead to non-syndromic deafness, and mutations in the Cryz gene of guinea pigs cause cataracts...
  56. ncbi The crystallins: genes, proteins and diseases
    J Graw
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Neuherberg, Germany
    Biol Chem 378:1331-48. 1997
    ..It has evolved from a quinone oxidoreductase using a lens-specific promoter, and a mutation in xi-crystallin is involved in cataract formation...
  57. ncbi Systemic first-line phenotyping
    Valerie Gailus-Durner
    Institute of Experimental Genetics, Helmholtz Zentrum Munchen, Neuherberg, Germany
    Methods Mol Biol 530:463-509. 2009
    ..Using the example of the German Mouse Clinic (GMC) we will introduce the reader to the different aspects of the organization of a mouse clinic and present selected methods used in first-line phenotyping...
  58. ncbi Altered Na,K-ATPase pattern in gamma-crystallin mutant mice
    Amy Moseley
    Department of Ophthalmology and Visual Sciences, School of Medicine, University of Louisville, 301 E Muhammad Ali Boulevard, Louisville, KY 40292, USA
    Invest Ophthalmol Vis Sci 43:1517-9. 2002
    ..In the present study, the expression of Na,K-ATPase alpha1, alpha2, and alpha3 catalytic subunit polypeptides was examined in the lenses of these mutant mice...
  59. ncbi Recessive transmission of a multiple endocrine neoplasia syndrome in the rat
    Andreas Fritz
    Institute of Pathology, GSF National Research Center for Environment and Health, Ingolstaedter Landstrasse 1, D 85764 Neuherberg, Germany
    Cancer Res 62:3048-51. 2002
    ....
  60. ncbi Altered aggregation properties of mutant gamma-crystallins cause inherited cataract
    Aileen Sandilands
    Department of Biochemistry, Medical Science Institutes, University of Dundee, Dundee DD1 5EH, Scotland, UK
    EMBO J 21:6005-14. 2002
    ..The mutant gamma-crystallins initially disrupt nuclear function, but then this progresses to a full cataract phenotype...
  61. ncbi Early developmental failure of substantia nigra dopamine neurons in mice lacking the homeodomain gene Pitx3
    Marten P Smidt
    Rudolf Magnus Institute of Neuroscience, Department of Pharmacology and Anatomy, University Medical Center, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands
    Development 131:1145-55. 2004
    ..However, an overall lower activity was observed. The results suggest that Pitx3 is specifically required for the formation of the SNc subfield at the onset of dopaminergic neuron differentiation...
  62. ncbi Mutually regulated expression of Pax6 and Six3 and its implications for the Pax6 haploinsufficient lens phenotype
    Guy Goudreau
    Department of Molecular Cell Biology, Max Planck Institute of Biophysical Chemistry, Am Fassberg, 37077 Gottingen, Germany
    Proc Natl Acad Sci U S A 99:8719-24. 2002
    ..Our findings thus provide a mechanism implicating gene regulatory interactions between Pax6 and Six3 in the tissue-specific defects found in Pax6 heterozygous mice...
  63. ncbi Mapping of a novel MEN-like syndrome locus to rat chromosome 4
    Kamilla Piotrowska
    Institute of Pathology, GSF-National Research Center for Environment and Health, D-85764 Neuherberg, Germany
    Mamm Genome 15:135-41. 2004
    ..The identification of the MENX gene should contribute to our understanding of the genetic mechanisms of neuroendocrine tissue tumorigenesis and may assist in developing new and more appropriate therapeutic strategies for these diseases...
  64. ncbi Mutation analysis of congenital cataracts in Indian families: identification of SNPS and a new causative allele in CRYBB2 gene
    Sathiyavedu T Santhiya
    Dr ALM Postgraduate Institute of Basic Medical Sciences, Department of Genetics, University of Madras, Taramani, Chennai, India
    Invest Ophthalmol Vis Sci 45:3599-607. 2004
    ..To study some functional candidate genes in cataract families of Indian descent...
  65. ncbi A novel GJA8 mutation causing a recessive triangular cataract
    Werner Schmidt
    Center of Ophthalmology, Universities of Giessen and Marburg, Giessen, Germany
    Mol Vis 14:851-6. 2008
    ..The aim of the study was to characterize the underlying mutation in a consanguineous family having cataracts...
  66. ncbi Mutation analysis in a German family identified a new cataract-causing allele in the CRYBB2 gene
    Silke Pauli
    Institute of Human Genetics, University of Gottingen, Gottingen, Germany
    Mol Vis 13:962-7. 2007
    ..The study demonstrates the functional candidate gene analysis in a cataract family of German descent...
  67. ncbi An ENU-induced mutation in Rs1h causes disruption of retinal structure and function
    Monica M Jablonski
    Department of Ophthalmology, University of Tennessee Health Science Center and Tennessee Mouse Genome Consortium, Memphis, TN, USA
    Mol Vis 11:569-81. 2005
    ..Herein we present its retinal phenotype and genetic basis...
  68. ncbi Agonistic and antagonistic action of AP2, Msx2, Pax6, Prox1 AND Six3 in the regulation of Sox2 expression
    Johannes Lengler
    Austrianova, Vienna, Austria
    Ophthalmic Res 37:301-9. 2005
    ..Msx2 has an inhibitory effect, whereas Six3 does not affect the Sox2 promoter. These data indicate a common activating cascade at least for AP2, Pax6, Prox1 and Sox2...
  69. ncbi CRYBA4, a novel human cataract gene, is also involved in microphthalmia
    Gail Billingsley
    Program of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada
    Am J Hum Genet 79:702-9. 2006
    ..Protein folding would consequently be impaired, most probably leading to a structure with reduced stability in the mutant. This is the first report linking mutations in CRYBA4 to cataractogenesis and microphthalmia...
  70. ncbi Betacellulin overexpression in transgenic mice causes disproportionate growth, pulmonary hemorrhage syndrome, and complex eye pathology
    Marlon R Schneider
    Institute of Molecular Animal Breeding and Biotechnology, Gene Center, University of Munich, Germany
    Endocrinology 146:5237-46. 2005
    ..Thus, our model uncovers multiple consequences of BTC overexpression in vivo. These transgenic mice provide a useful model for examining the effects of BTC excess on different organs...
  71. ncbi Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family
    Sathiyavedu T Santhiya
    Dr. ALM. Postgraduate Institute of Basic Medical Sciences, Department of Genetics, University of Madras, Taramani, Chennai, India
    Mol Vis 12:768-73. 2006
    ..In all reported alleles the basic amino acid Arg is involved, suggesting the major importance of the net charge of the alphaA-crystallin for functional integrity in the lens...
  72. ncbi An in vivo doxycycline-controlled expression system for functional studies of the retina
    Barbara Angeletti
    Telethon Institute of Genetics and Medicine, Naples, Italy
    Invest Ophthalmol Vis Sci 44:755-60. 2003
    ..This system is suitable for the study of factors involved in retinal biology and of mutant forms of genes involved in retinal diseases...
  73. ncbi Introducing the German Mouse Clinic: open access platform for standardized phenotyping
    Valerie Gailus-Durner
    Nat Methods 2:403-4. 2005
  74. ncbi On the use of Tono-Pen XL for the measurement of intraocular pressure in mice
    Claudia Dalke
    Exp Eye Res 80:295-6. 2005
  75. ncbi Lack of F8 mRNA: a novel mechanism leading to hemophilia A
    Osman El-Maarri
    Institute of Experimental Hematology and Transfusion Medicine, Sigmund Freud Str 25, 53127 Bonn, Germany
    Blood 107:2759-65. 2006
    ..These findings strongly suggest that the cause of HA in this patient is either absence or rapid degradation of the F8 mRNA, which points to a novel mechanism leading to HA...