المؤلفون: Duncan MK; Department of Biological Sciences, University of Delaware, Newark, DE, 19716, USA. Electronic address: duncanm@udel.edu., Daruich A; Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, Paris, France; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris, France., Valleix S; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris, France; Service de Médecine Génomique des Maladies de Système et d'Organe, APHP Centre, Paris, Université de Paris Cité, Fédération de Génétique et de Médecine Génomique, Hôpital Cochin, 27 rue du Fbg St-Jacques, 75679, Paris, Cedex 14, France., Bremond-Gignac D; Ophthalmology Department, Necker-Enfants Malades University Hospital, AP-HP, Paris Cité University, Paris, France; INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Sorbonne Paris Cité University, Centre de Recherche des Cordeliers, Paris, France.

المصدر: Experimental eye research [Exp Eye Res] 2024 Jan; Vol. 238, pp. 109746. Date of Electronic Publication: 2023 Dec 05.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Academic Press Country of Publication: England NLM ID: 0370707 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0007 (Electronic) Linking ISSN: 00144835 NLM ISO Abbreviation: Exp Eye Res Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/genetics , Aniridia*/diagnosis , Corneal Diseases* , Cataract*/genetics , Cataract*/congenital, Humans ; Mice ; Rats ; Animals ; PAX6 Transcription Factor/genetics ; Paired Box Transcription Factors/genetics ; Retrospective Studies ; Zebrafish ; Mutation ; Homeodomain Proteins/genetics ; Eye Proteins/genetics

المؤلفون: Cole JD; Neuroscience Graduate Program, University of Virginia, Charlottesville, VA, USA; Department of Biology, University of Virginia, Charlottesville, VA, USA., McDaniel JA; Department of Biology, University of Virginia, Charlottesville, VA, USA., Nilak J; Department of Biology, University of Virginia, Charlottesville, VA, USA., Ban A; Department of Biology, University of Virginia, Charlottesville, VA, USA., Rodriguez C; Department of Biology, University of Virginia, Charlottesville, VA, USA., Hameed Z; Department of Biology, University of Virginia, Charlottesville, VA, USA., Grannonico M; Department of Biology, University of Virginia, Charlottesville, VA, USA., Netland PA; Department of Ophthalmology, University of Virginia, Charlottesville, VA, USA., Yang H; Linda and Bipin Doshi Department of Chemical and Biochemical Engineering, Missouri University of Science and Technology, Rolla, MO, USA., Provencio I; Department of Biology, University of Virginia, Charlottesville, VA, USA; Department of Ophthalmology, University of Virginia, Charlottesville, VA, USA; Program in Fundamental Neuroscience, University of Virginia, Charlottesville, VA, USA. Electronic address: provencio@virginia.edu., Liu X; Department of Biology, University of Virginia, Charlottesville, VA, USA; Department of Ophthalmology, University of Virginia, Charlottesville, VA, USA; Program in Fundamental Neuroscience, University of Virginia, Charlottesville, VA, USA; Department of Psychology, University of Virginia, Charlottesville, VA, USA. Electronic address: xl8n@virginia.edu.

المصدر: Experimental eye research [Exp Eye Res] 2024 Jan; Vol. 238, pp. 109723. Date of Electronic Publication: 2023 Nov 16.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: England NLM ID: 0370707 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0007 (Electronic) Linking ISSN: 00144835 NLM ISO Abbreviation: Exp Eye Res Subsets: MEDLINE

مواضيع طبية MeSH: Microphthalmos*/genetics , Aniridia*/genetics, Humans ; Mice ; Animals ; PAX6 Transcription Factor/genetics ; Paired Box Transcription Factors/genetics ; Neuroinflammatory Diseases ; Mice, Inbred C57BL ; Homeodomain Proteins/genetics ; Eye Proteins/genetics

المؤلفون: Cole JD; Department of Biology, University of Virginia, Charlottesville, VA, USA; Neuroscience Graduate Program, University of Virginia, Charlottesville, VA, USA., McHaney KM; Department of Biology, University of Virginia, Charlottesville, VA, USA., Rabiee B; Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL, USA; Department of Ophthalmology, Nazareth Hospital, Philadelphia, PA, USA., Gao J; Department of Biology, University of Virginia, Charlottesville, VA, USA., Rodriguez C; Department of Biology, University of Virginia, Charlottesville, VA, USA., Miller DA; Department of Biomedical Engineering, Northwestern University, Evanston, IL, USA., Liu M; Department of Biology, University of Virginia, Charlottesville, VA, USA., Grannonico M; Department of Biology, University of Virginia, Charlottesville, VA, USA., Norat P; Department of Biology, University of Virginia, Charlottesville, VA, USA., Zhang HF; Department of Biomedical Engineering, Northwestern University, Evanston, IL, USA., Djalilian AR; Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL, USA. Electronic address: adjalili@uic.edu., Liu X; Department of Biology, University of Virginia, Charlottesville, VA, USA; Department of Psychology, University of Virginia, Charlottesville, VA, USA; Program in Fundamental Neuroscience, University of Virginia, Charlottesville, VA, USA. Electronic address: xl8n@virginia.edu.

المصدر: Experimental eye research [Exp Eye Res] 2022 May; Vol. 218, pp. 109012. Date of Electronic Publication: 2022 Mar 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: England NLM ID: 0370707 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0007 (Electronic) Linking ISSN: 00144835 NLM ISO Abbreviation: Exp Eye Res Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/genetics , Paired Box Transcription Factors*/genetics, Animals ; Disease Models, Animal ; Eye Proteins/genetics ; Haploinsufficiency ; Homeodomain Proteins/genetics ; Humans ; Mice ; Mitogen-Activated Protein Kinase Kinases/genetics ; PAX6 Transcription Factor/genetics ; Repressor Proteins/genetics ; Retina

المؤلفون: Katiyar P; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany. Electronic address: priya21katiyar@gmail.com., Stachon T; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany., Fries FN; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany., Parow F; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany., Ulrich M; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany., Langenbucher A; Experimental Ophthalmology, Saarland University, Homburg, Saar, Germany., Cayless A; School of Physical Sciences, The Open University, Milton Keynes, United Kingdom., Seitz B; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany., Käsmann-Kellner B; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany., Latta L; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany., Szentmáry N; Dr. Rolf M. Schwiete Center for Limbal Stem Cell and Congenital Aniridia Research, Saarland University, Homburg, Saar, Germany.

المصدر: Experimental eye research [Exp Eye Res] 2022 Feb; Vol. 215, pp. 108904. Date of Electronic Publication: 2021 Dec 23.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: England NLM ID: 0370707 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0007 (Electronic) Linking ISSN: 00144835 NLM ISO Abbreviation: Exp Eye Res Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia*/genetics , Desmoglein 1*/biosynthesis , Desmoglein 1*/genetics , Fatty Acid-Binding Proteins*/biosynthesis , Fatty Acid-Binding Proteins*/genetics , Fatty Acid-Binding Proteins*/metabolism , PAX6 Transcription Factor*/genetics , PAX6 Transcription Factor*/metabolism, Antigens, Differentiation ; Epithelial Cells/metabolism ; Humans ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; RNA, Small Interfering/genetics ; RNA, Small Interfering/metabolism ; Tretinoin/metabolism

المؤلفون: Voskresenskaya A; Cheboksary Branch of The S. Fyodorov Eye Microsurgery Federal State Institution, Cheboksary, Russian Federation. Electronic address: vsolaris@mail.ru., Pozdeyeva N; Cheboksary Branch of The S. Fyodorov Eye Microsurgery Federal State Institution, Cheboksary, Russian Federation; Postgraduate Medical Institute, Cheboksary, Russian Federation., Batkov Y; Cheboksary Branch of The S. Fyodorov Eye Microsurgery Federal State Institution, Cheboksary, Russian Federation., Vasilyeva T; Federal State Budgetary Institution «Research Center for Medical Genetics», Moscow, Russian Federation., Marakhonov A; Federal State Budgetary Institution «Research Center for Medical Genetics», Moscow, Russian Federation., West RA; The University of Delaware Bioimaging and Flow Cytometry Core Facility, University of Delaware, Newark, DE, USA., Caplan JL; The University of Delaware Bioimaging and Flow Cytometry Core Facility, University of Delaware, Newark, DE, USA., Cvekl A; The Departments Ophthalmology and Visual Sciences, and Genetics, Albert Einstein College of Medicine, Bronx, NY, 10461, USA., Wang Y; Department of Biological Sciences, University of Delaware, Newark, DE, USA., Duncan MK; Department of Biological Sciences, University of Delaware, Newark, DE, USA. Electronic address: duncanm@udel.edu.

المصدر: Experimental eye research [Exp Eye Res] 2021 Feb; Vol. 203, pp. 108371. Date of Electronic Publication: 2020 Nov 26.

نوع المنشور: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: England NLM ID: 0370707 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0007 (Electronic) Linking ISSN: 00144835 NLM ISO Abbreviation: Exp Eye Res Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia/*pathology , Cataract/*pathology , Lens, Crystalline/*pathology , Microphthalmos/*pathology, Adolescent ; Adult ; Aged ; Animals ; Aniridia/genetics ; Anterior Chamber/pathology ; Axial Length, Eye/pathology ; Cataract/genetics ; Child ; Child, Preschool ; Disease Models, Animal ; Female ; Humans ; Infant ; Male ; Mice ; Mice, Mutant Strains ; Microphthalmos/genetics ; Microscopy, Acoustic ; Middle Aged ; PAX6 Transcription Factor/genetics ; Phenotype ; Slit Lamp Microscopy ; Tomography, Optical Coherence ; Young Adult

المؤلفون: Chrystal PW; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada., Walter MA; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada. Electronic address: mwalter@ualberta.ca.

المصدر: Experimental eye research [Exp Eye Res] 2019 Dec; Vol. 189, pp. 107815. Date of Electronic Publication: 2019 Sep 24.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Academic Press Country of Publication: England NLM ID: 0370707 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0007 (Electronic) Linking ISSN: 00144835 NLM ISO Abbreviation: Exp Eye Res Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple*, Aniridia/*genetics , Anterior Eye Segment/*abnormalities , Eye Abnormalities/*genetics , Eye Diseases, Hereditary/*genetics , Homeodomain Proteins/*genetics, Aniridia/diagnosis ; Aniridia/metabolism ; Anterior Eye Segment/metabolism ; Eye Abnormalities/diagnosis ; Eye Abnormalities/metabolism ; Eye Diseases, Hereditary/diagnosis ; Eye Diseases, Hereditary/metabolism ; Genotype ; Homeodomain Proteins/metabolism ; Humans ; Mutation

SCR Disease Name: Axenfeld-Rieger syndrome

المؤلفون: Latta L; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany. Electronic address: lorenz.latta@uks.eu., Nordström K; Department of Genetics and Epigenetics, Saarland University, Saarbrücken, Germany., Stachon T; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany., Langenbucher A; Institute of Experimental Ophthalmology, Saarland University, Homburg, Saar, Germany., Fries FN; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany., Szentmáry N; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Seitz B; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany., Käsmann-Kellner B; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany.

المصدر: Experimental eye research [Exp Eye Res] 2019 Feb; Vol. 179, pp. 8-17. Date of Electronic Publication: 2018 Oct 04.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: England NLM ID: 0370707 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0007 (Electronic) Linking ISSN: 00144835 NLM ISO Abbreviation: Exp Eye Res Subsets: MEDLINE

مواضيع طبية MeSH: Alcohol Dehydrogenase/*genetics , Aldehyde Dehydrogenase/*genetics , Aniridia/*genetics , Epithelium, Corneal/*metabolism , Limbus Corneae/*metabolism , Signal Transduction/*physiology , Tretinoin/*metabolism, Aldehyde Dehydrogenase 1 Family ; Blotting, Western ; Cell Differentiation ; Cells, Cultured ; Corneal Diseases/genetics ; Corneal Diseases/metabolism ; Gene Expression Regulation/physiology ; High-Throughput Nucleotide Sequencing ; Humans ; Models, Biological ; PAX6 Transcription Factor/physiology ; RNA, Messenger/genetics ; RNA, Small Interfering/genetics ; Real-Time Polymerase Chain Reaction ; Retinal Dehydrogenase ; Serine Peptidase Inhibitors, Kazal Type/genetics ; Transfection

المؤلفون: Ramaesh T; Division of Reproductive and Developmental Sciences, Genes and Development Group, University of Edinburgh, Hugh Robson Building, George Square, Edinburgh EH8 9XD, UK., Ramaesh K, Martin Collinson J, Chanas SA, Dhillon B, West JD

المصدر: Experimental eye research [Exp Eye Res] 2005 Aug; Vol. 81 (2), pp. 224-35.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: England NLM ID: 0370707 Publication Model: Print Cited Medium: Print ISSN: 0014-4835 (Print) Linking ISSN: 00144835 NLM ISO Abbreviation: Exp Eye Res Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia/*complications , Corneal Diseases/*etiology , Epithelium, Corneal/*abnormalities , Eye Proteins/*genetics , Homeodomain Proteins/*genetics , Repressor Proteins/*genetics, Animals ; Aniridia/genetics ; Aniridia/pathology ; Cell Differentiation ; Cell Proliferation ; Corneal Diseases/genetics ; Corneal Diseases/pathology ; Disease Models, Animal ; Epithelium, Corneal/metabolism ; Epithelium, Corneal/pathology ; Keratin-12 ; Keratins/metabolism ; Mice ; Mice, Inbred C57BL ; Mice, Inbred CBA ; Mice, Mutant Strains ; PAX6 Transcription Factor ; Paired Box Transcription Factors ; Phosphoproteins/metabolism ; Trans-Activators/metabolism

المؤلفون: Latta L; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany. Electronic address: lorenz.latta@uks.eu., Viestenz A; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany., Stachon T; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany., Colanesi S; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany., Szentmáry N; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany; Department of Ophthalmology, Semmelweis University, Budapest, Hungary., Seitz B; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany., Käsmann-Kellner B; Department of Ophthalmology, Saarland University Medical Center, Homburg, Saar, Germany.

المصدر: Experimental eye research [Exp Eye Res] 2018 Feb; Vol. 167, pp. 100-109. Date of Electronic Publication: 2017 Nov 21.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Academic Press Country of Publication: England NLM ID: 0370707 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0007 (Electronic) Linking ISSN: 00144835 NLM ISO Abbreviation: Exp Eye Res Subsets: MEDLINE

مواضيع طبية MeSH: Aniridia/*genetics , Epithelial Cells/*metabolism , Gene Expression Regulation/*physiology , Keratin-12/*genetics , Keratin-3/*genetics , Limbus Corneae/*pathology, ATP Binding Cassette Transporter, Subfamily G, Member 2/genetics ; ATP Binding Cassette Transporter, Subfamily G, Member 2/metabolism ; Aged, 80 and over ; Blotting, Western ; Cell Differentiation ; Female ; Fluorescent Antibody Technique, Indirect ; Humans ; Keratin-12/metabolism ; Keratin-3/metabolism ; Male ; Middle Aged ; Neoplasm Proteins/genetics ; Neoplasm Proteins/metabolism ; PAX6 Transcription Factor/genetics ; PAX6 Transcription Factor/metabolism ; RNA, Messenger/genetics ; Real-Time Polymerase Chain Reaction ; Transcription Factors/genetics ; Transcription Factors/metabolism ; Tumor Suppressor Proteins/genetics ; Tumor Suppressor Proteins/metabolism

المؤلفون: Glaser T; Department of Medicine and Howard Hughes Medical Institute, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115., Ton CC, Mueller R, Petzl-Erler ML, Oliver C, Nevin NC, Housman DE, Maas RL

المصدر: Genomics [Genomics] 1994 Jan 01; Vol. 19 (1), pp. 145-8.

نوع المنشور: Journal Article; Research Support, U.S. Gov't, P.H.S.

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 8800135 Publication Model: Print Cited Medium: Print ISSN: 0888-7543 (Print) Linking ISSN: 08887543 NLM ISO Abbreviation: Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Genes* , Homeodomain Proteins*, Aniridia/*genetics , Cerebellar Ataxia/*genetics , DNA-Binding Proteins/*genetics , Intellectual Disability/*genetics, Alleles ; Aniridia/classification ; Base Sequence ; Brazil ; DNA Mutational Analysis ; Eye Proteins ; Female ; Humans ; Male ; Molecular Sequence Data ; Northern Ireland ; PAX6 Transcription Factor ; Paired Box Transcription Factors ; Pedigree ; Polymorphism, Genetic ; Repressor Proteins ; Syndrome