Temat: "ANIRIDIA" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome.
Autorzy:: Marakhonov AV; Research Centre for Medical Genetics, Moscow 115522, Russia.
Vasilyeva TA; Research Centre for Medical Genetics, Moscow 115522, Russia.
Minzhenkova ME; Research Centre for Medical Genetics, Moscow 115522, Russia.
Sukhanova NV; Research Centre for Medical Genetics, Moscow 115522, Russia.
Sparber PA; Research Centre for Medical Genetics, Moscow 115522, Russia.
Andreeva NA; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow 117997, Russia.
Teleshova MV; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow 117997, Russia.
Baybagisova FK; Medical Center 'Evromed', Cherkessk 369000, Russia.
Shilova NV; Research Centre for Medical Genetics, Moscow 115522, Russia.
Kutsev SI; Research Centre for Medical Genetics, Moscow 115522, Russia.
Zinchenko RA; Research Centre for Medical Genetics, Moscow 115522, Russia.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Nov 29; Vol. 24 (23). Date of Electronic Publication: 2023 Nov 29.
Typ publikacji:: Journal Article
MeSH Terms:: WAGR Syndrome*/diagnosis
WAGR Syndrome*/genetics
WAGR Syndrome*/pathology
Aniridia*/diagnosis
Aniridia*/genetics
Wilms Tumor*/genetics
Kidney Neoplasms*/genetics
Male ; Humans ; Infant ; Chromosome Deletion ; Chromosomes, Human, Pair 11/genetics ; Chromosome Inversion

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Skocz do pozycji: 2.

Tytuł:: Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient.
Autorzy:: Vasilyeva TA; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Sukhanova NV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Marakhonov AV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Kuzina NY; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Shilova NV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Kadyshev VV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Kutsev SI; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Zinchenko RA; Research Centre for Medical Genetics, 115522 Moscow, Russia.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Oct 24; Vol. 24 (21). Date of Electronic Publication: 2023 Oct 24.
Typ publikacji:: Case Reports
MeSH Terms:: Down Syndrome*/complications
Aniridia*/complications
Aniridia*/genetics
Female ; Humans ; Child ; PAX6 Transcription Factor/genetics ; Chromosomes, Human, Pair 21/genetics ; Trisomy ; Eye Proteins/genetics ; Homeodomain Proteins/genetics ; Pedigree ; Mutation

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Skocz do pozycji: 3.

Tytuł:: A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD.
Autorzy:: Wang Q; Beijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology & Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capital Medical University, China. 1 Dong Jiao Min Xiang, Dong Cheng District, Beijing, 100730, China.
Wei WB; Beijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology & Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capital Medical University, China. 1 Dong Jiao Min Xiang, Dong Cheng District, Beijing, 100730, China.
Shi XY; Beijing Tongren Eye Center, Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology & Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Hospital, Capital Medical University, China. 1 Dong Jiao Min Xiang, Dong Cheng District, Beijing, 100730, China. shixy_.
Rong WN; Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region, Third Clinical Medical College of Ningxia Medical University, Huanghe Road, Jinfeng District, the Ningxia Hui Autonomous Region, Yinchuan, 750002, China. .; Pokaż więcej
Źródło:: BMC medical genomics [BMC Med Genomics] 2023 Aug 04; Vol. 16 (1), pp. 182. Date of Electronic Publication: 2023 Aug 04.
Typ publikacji:: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Aniridia*/complications
Aniridia*/genetics
Aniridia*/pathology
Retinal Detachment*
Humans ; East Asian People ; Genotype ; Homeodomain Proteins/genetics ; Mutation ; PAX6 Transcription Factor/genetics ; Pedigree

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Skocz do pozycji: 4.

Tytuł:: Aniridic scleral fixation of intraocular lens: The answer to vision loss with photophobia!
Autorzy:: Shah D; Department of Ophthalmology, Choithram Netralaya, Indore, Madhya Pradesh, India.
Pandit R; Department of Ophthalmology, Choithram Netralaya, Indore, Madhya Pradesh, India.
Singhal A; Department of Ophthalmology, Choithram Netralaya, Indore, Madhya Pradesh, India.; Pokaż więcej
Źródło:: Indian journal of ophthalmology [Indian J Ophthalmol] 2023 Aug; Vol. 71 (8), pp. 3118.
Typ publikacji:: Journal Article
MeSH Terms:: Lenses, Intraocular*
Aniridia*/complications
Eye Injuries*/complications
Cataract*/complications
Male ; Humans ; Lens Implantation, Intraocular ; Photophobia/diagnosis ; Photophobia/etiology ; Photophobia/surgery ; Iris/surgery ; Vision Disorders/surgery

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Skocz do pozycji: 5.

Tytuł:: Globe rupture with aphakia, aniridia, secondary glaucoma and late corneal decompensation: A multi-staged approach to management.
Autorzy:: Bhasin P; Director, Ratan Jyoti Netralaya, Gwalior, Madhya Pradesh, India.
Panday M; Director-Glaucoma Department, Ratan Jyoti Netralaya, Gwalior, Madhya Pradesh, India.
Dhanapal P; Director-Cornea Department, Ratan Jyoti Netralaya, Gwalior, Madhya Pradesh, India.; Pokaż więcej
Źródło:: Indian journal of ophthalmology [Indian J Ophthalmol] 2023 May; Vol. 71 (5), pp. 2263-2266.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Lenses, Intraocular*/adverse effects
Aniridia*/complications
Aniridia*/diagnosis
Aniridia*/surgery
Eye Injuries*/complications
Eye Injuries*/diagnosis
Eye Injuries*/surgery
Aphakia*/complications
Aphakia*/diagnosis
Corneal Diseases*/surgery
Glaucoma*/diagnosis
Glaucoma*/etiology
Glaucoma*/surgery
Male ; Humans ; Adult ; Lens Implantation, Intraocular/adverse effects ; Iris/surgery ; Retrospective Studies

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Skocz do pozycji: 6.

Tytuł:: Corneal transplantation in aniridia-related keratopathy with a two-year follow-up period, an uncommon disease with precarious course.
Autorzy:: Viberg A; Department of Clinical Sciences, Ophthalmology, Umeå University, Umeå, Sweden.
Vicente A; Department of Clinical Sciences, Ophthalmology, Umeå University, Umeå, Sweden.
Samolov B; Division of Eye and Vision, Department of Clinical Neuroscience, St Eriks Eye Hospital, Karolinska Institutet, Stockholm, Sweden.
Hjortdal J; Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark.
Byström B; Department of Clinical Sciences, Ophthalmology, Umeå University, Umeå, Sweden.; Pokaż więcej
Źródło:: Acta ophthalmologica [Acta Ophthalmol] 2023 Mar; Vol. 101 (2), pp. 222-228. Date of Electronic Publication: 2022 Aug 09.
Typ publikacji:: Journal Article
MeSH Terms:: Corneal Diseases*/complications
Corneal Diseases*/diagnosis
Corneal Diseases*/surgery
Corneal Transplantation*
Aniridia*/complications
Aniridia*/surgery
Humans ; Cornea/surgery ; Follow-Up Studies ; Retrospective Studies ; Prostheses and Implants ; Keratoplasty, Penetrating ; Vision Disorders/surgery

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Skocz do pozycji: 7.

Tytuł:: PAX6 disease models for aniridia.
Autorzy:: Abdolkarimi D; UCL Institute of Ophthalmology, London, UK.
Cunha DL; UCL Institute of Ophthalmology, London, UK; Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, Netherlands.
Lahne M; UCL Institute of Ophthalmology, London, UK.
Moosajee M; UCL Institute of Ophthalmology; Moorfields Eye Hospital NHS Foundation Trust; Great Ormond Street Hospital for Children NHS Foundation Trust; The Francis Crick Institute, London, UK.; Pokaż więcej
Źródło:: Indian journal of ophthalmology [Indian J Ophthalmol] 2022 Dec; Vol. 70 (12), pp. 4119-4129.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Aniridia*/diagnosis
Aniridia*/genetics
Cataract*
Glaucoma*
Humans ; Animals ; Mice ; Zebrafish ; Iris ; PAX6 Transcription Factor/genetics

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Skocz do pozycji: 8.

Tytuł:: Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia.
Autorzy:: Tamayo A; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Department of Surgery, Medical and Social Sciences, Faculty of Medicine and Health Sciences, Science and Technology Campus, University of Alcalá, 28871 Alcalá de Henares, Spain.
Núñez-Moreno G; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Bioinformatics Unit, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28240 Madrid, Spain.
Ruiz C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Plaisancie J; Centre de Référence des Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Purpan, CHU Toulouse, 31000 Toulouse, France.; INSERM U1214, Université Toulouse III, 31000 Toulouse, France.
Damian A; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Moya J; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.
Chassaing N; Centre de Référence des Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Purpan, CHU Toulouse, 31000 Toulouse, France.; INSERM U1214, Université Toulouse III, 31000 Toulouse, France.
Calvas P; Centre de Référence des Affections Rares en Génétique Ophtalmologique (CARGO), Hôpital Purpan, CHU Toulouse, 31000 Toulouse, France.; INSERM U1214, Université Toulouse III, 31000 Toulouse, France.
Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Minguez P; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Bioinformatics Unit, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28240 Madrid, Spain.
Corton M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Jan 13; Vol. 24 (2). Date of Electronic Publication: 2023 Jan 13.
Typ publikacji:: Journal Article
MeSH Terms:: Aniridia*/genetics
RNA Splicing*/genetics
Humans ; Alternative Splicing/genetics ; Introns/genetics ; Mutation ; PAX6 Transcription Factor/genetics ; PAX6 Transcription Factor/metabolism ; RNA Splice Sites

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Skocz do pozycji: 9.

Tytuł:: Aniridia-related keratopathy relevant cell signaling pathways in human fetal corneas.
Autorzy:: Vicente A; Department of Clinical Sciences, Ophthalmology, Umeå University, 901 85, Umeå, Sweden.
Sloniecka M; Department of Clinical Sciences, Ophthalmology, Umeå University, 901 85, Umeå, Sweden.
Liu JX; Department of Integrative Medical Biology, Section for Anatomy, Umeå University, Umeå, Sweden.
Byström B; Department of Clinical Sciences, Ophthalmology, Umeå University, 901 85, Umeå, Sweden.
Pedrosa Domellöf F; Department of Clinical Sciences, Ophthalmology, Umeå University, 901 85, Umeå, Sweden. .; Department of Integrative Medical Biology, Section for Anatomy, Umeå University, Umeå, Sweden. .; Pokaż więcej
Źródło:: Histochemistry and cell biology [Histochem Cell Biol] 2022 Aug; Vol. 158 (2), pp. 169-180. Date of Electronic Publication: 2022 May 12.
Typ publikacji:: Journal Article
MeSH Terms:: Aniridia*/metabolism
Aniridia*/pathology
Cornea*/metabolism
Cornea*/pathology
Signal Transduction*
beta Catenin*/metabolism
Fetus ; Hedgehog Proteins/metabolism ; Humans ; TOR Serine-Threonine Kinases/metabolism

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Skocz do pozycji: 10.

Tytuł:: Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
Autorzy:: Hall HN; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Bengani H; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Hufnagel RB; National Eye Institute, National Institutes of Health, Bethesda, MD, United States of America.
Damante G; Department of Medicine, University of Udine, Udine, Italy.
Ansari M; South East Scotland Genetic Service, Western General Hospital, Edinburgh, United Kingdom.
Marsh JA; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Grimes GR; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Kriegsheim AV; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Moore D; South East Scotland Genetic Service, Western General Hospital, Edinburgh, United Kingdom.
McKie L; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Rahmat J; Ophthalmology Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
Mio C; Department of Medicine, University of Udine, Udine, Italy.
Blyth M; University of Leeds, St. James's University Hospital, Leeds, United Kingdom.
Keng WT; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.
Islam L; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, England.
McEntargart M; Medical Genetics, St George's University Hospitals NHS Foundation Trust, London, United Kingdom.
Mannens MM; Genome Diagnostics laboratory, Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, The Netherlands.
Heyningen VV; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.
Rainger J; Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom.
Brooks BP; National Eye Institute, National Institutes of Health, Bethesda, MD, United States of America.
FitzPatrick DR; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2022 Nov 22; Vol. 17 (11), pp. e0268149. Date of Electronic Publication: 2022 Nov 22 (Print Publication: 2022).
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Microphthalmos*/genetics
Aniridia*/genetics
Humans ; Animals ; Mice ; PAX6 Transcription Factor/genetics ; Mutation, Missense ; Heterozygote ; Transcription Factors/genetics ; Homeodomain Proteins/genetics ; RNA-Binding Proteins/genetics ; Eye Proteins/genetics ; Intracellular Signaling Peptides and Proteins/genetics

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Skocz do pozycji: 11.

Tytuł:: A rare case of congenital aniridia with an unusual run-on mutation in PAX6 gene.
Autorzy:: Ratna R; Department of Ocular Genetics, Dr Shroff's Charity Eye Hospital, Daryaganj, New Delhi, India.
Tibrewal S; Department of Ocular Genetics; Department of Pediatric Ophthalmology, Strabismus and Neuro-Ophthalmology, Dr Shroff's Charity Eye Hospital, Daryaganj, New Delhi, India.
Gour A; Department of Cornea and Anterior Segment, Dr Shroff's Charity Eye Hospital, Daryaganj, New Delhi, India.
Gupta R; Regional Institute of Ophthalmology, Post-Graduate Institute of Medical Sciences, Rohtak, Haryana, India.
Mathur U; Department of Cornea and Anterior Segment, Dr Shroff's Charity Eye Hospital, Daryaganj, New Delhi, India.
Vanita V; Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India.; Pokaż więcej
Źródło:: Indian journal of ophthalmology [Indian J Ophthalmol] 2022 Jul; Vol. 70 (7), pp. 2661-2664.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Aniridia*/diagnosis
Aniridia*/genetics
Humans ; Mutation ; PAX6 Transcription Factor/genetics

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Skocz do pozycji: 12.

Tytuł:: Clinical and molecular aspects of congenital aniridia - A review of current concepts.
Autorzy:: Tibrewal S; Department of Ocular Genetics; Department of Pediatric Ophthalmology, Strabismus and Neuro-ophthalmology, Dr Shroff's Charity Eye Hospital, Daryaganj, New Delhi, India.
Ratna R; Department of Ocular Genetics, Dr Shroff's Charity Eye Hospital, Daryaganj, New Delhi, India.
Gour A; Department of Cornea and Anterior Segment, Dr Shroff's Charity Eye Hospital, Daryaganj, New Delhi, India.
Agarkar S; Department of Pediatric Ophthalmology and Strabismus, Medical Research Foundation, Sankara Netralaya, Chennai, Tamil Nadu, India.
Dubey S; Department of Glaucoma, Dr Shroff's Charity Eye Hospital, Daryaganj, New Delhi, India.
Ganesh S; Department of Pediatric Ophthalmology, Strabismus and Neuro-ophthalmology, Dr Shroff's Charity Eye Hospital, Daryaganj, New Delhi, India.
Kekunnaya R; Child Sight Institute, Jasti V Ramanamma Children's Eye Care Centre, L V Prasad Eye Institute, KAR Campus, Hyderabad, Telangana, India.
Sangwan V; Department of Cornea and Anterior Segment, Dr Shroff's Charity Eye Hospital, Daryaganj, New Delhi, India.
Liu Y; Department of Cellular Biology and Anatomy, Center for Biotechnology and Genomic Medicine, Augusta University, Augusta, USA.
Vanita V; Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India.; Pokaż więcej
Źródło:: Indian journal of ophthalmology [Indian J Ophthalmol] 2022 Jul; Vol. 70 (7), pp. 2280-2292.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Aniridia*/diagnosis
Aniridia*/genetics
Eye Abnormalities*
Glaucoma*
Humans ; Intracellular Signaling Peptides and Proteins/genetics ; PAX6 Transcription Factor/genetics ; Phenotype ; Tripartite Motif Proteins/genetics

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Skocz do pozycji: 13.

Tytuł:: Descemet Stripping Endothelial Keratoplasty for Congenital Aniridia: An Interesting and Challenging Story.
Autorzy:: Tsatsos M; Moorfields Eye Hospital NHS Foundation Trust at Bedford Eye Clinic, Bedford, UK
Athanasiadis I; Second Department of Ophthalmology, Aristotle University of Thessaloniki, Thessaloniki, Greece
Ziakas N; Moorfields Eye Hospital NHS Foundation Trust at Bedford Eye Clinic, Bedford, UK; Pokaż więcej
Źródło:: Turkish journal of ophthalmology [Turk J Ophthalmol] 2022 Jun 29; Vol. 52 (3), pp. 208-211.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Aniridia*/complications
Aniridia*/diagnosis
Aniridia*/surgery
Corneal Diseases*/surgery
Descemet Stripping Endothelial Keratoplasty*/methods
Descemet Membrane/surgery ; Endothelium, Corneal ; Female ; Humans ; Middle Aged

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Skocz do pozycji: 14.

Tytuł:: Human Oral Mucosal Fibroblasts from Limbal Stem Cell Deficient Patients as an Autologous Feeder Layer for Epithelial Cell Culture.
Autorzy:: O'Callaghan AR; Cells for Sight, University College London, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK.
Shortt AJ; UCL Institute of Ophthalmology, University College London, London, UK.; Moorfields Eye Hospital NHS Foundation Trust, London, UK.
Lewis MP; School of Sport, Exercise and Health Sciences, Musculoskeletal Biology Research Group, Loughborough University, Leicestershire, UK.
Daniels JT; Cells for Sight, University College London, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK.; Pokaż więcej
Źródło:: Current eye research [Curr Eye Res] 2022 Aug; Vol. 47 (8), pp. 1106-1115. Date of Electronic Publication: 2022 May 16.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Aniridia*/metabolism
Corneal Diseases*/metabolism
Corneal Diseases*/surgery
Epithelium, Corneal*
Limbus Corneae*
Cells, Cultured ; Epithelial Cells/metabolism ; Feeder Cells ; Fibroblasts ; Humans ; Stem Cells

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Skocz do pozycji: 15.

Tytuł:: Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World's Population and the Human Genome.
Autorzy:: Vasilyeva TA; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Marakhonov AV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Kutsev SI; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Zinchenko RA; Research Centre for Medical Genetics, 115522 Moscow, Russia.; N.A. Semashko National Research Institute of Public Health, 105064 Moscow, Russia.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2022 Jun 15; Vol. 23 (12). Date of Electronic Publication: 2022 Jun 15.
Typ publikacji:: Journal Article; Review
MeSH Terms:: Aniridia*/genetics
Paired Box Transcription Factors*/genetics
Chromosome Deletion ; Eye Proteins/genetics ; Genome, Human ; Homeodomain Proteins/genetics ; Humans ; Mutation ; PAX6 Transcription Factor/genetics ; Pedigree ; Repressor Proteins/genetics

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Skocz do pozycji: 16.

Tytuł:: Endocapsular artificial iris implantation for iris defects: Reducing symptoms, restoring visual function and improving cosmesis.
Autorzy:: Crawford AZ; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.; Department of Ophthalmology, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand.
Freundlich SEN; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.; Department of Ophthalmology, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand.
Lim J; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.; Department of Ophthalmology, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand.
McGhee CNJ; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.; Department of Ophthalmology, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand.; Eye Institute, Auckland, New Zealand.; Pokaż więcej
Źródło:: Clinical & experimental ophthalmology [Clin Exp Ophthalmol] 2022 Jul; Vol. 50 (5), pp. 490-499. Date of Electronic Publication: 2022 Apr 26.
Typ publikacji:: Journal Article
MeSH Terms:: Aniridia*/surgery
Lenses, Intraocular*/adverse effects
Humans ; Iris/surgery ; Lens Implantation, Intraocular/methods ; Postoperative Complications/surgery ; Prosthesis Implantation ; Retrospective Studies ; Visual Acuity

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Skocz do pozycji: 17.

Tytuł:: Missense mutation in the PAX6 gene can cause a complex mild variable phenotype predominated by concomitant strabismus.
Autorzy:: Shen T; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Qiu X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Lin X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Lin J; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Li X; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Chen Q; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Pan L; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Wang Z; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Shen H; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Zhang Q; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
Yan J; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2022 Feb; Vol. 43 (1), pp. 88-96. Date of Electronic Publication: 2021 Aug 03.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Abnormalities, Multiple*
Aniridia*/diagnosis
Aniridia*/genetics
PAX6 Transcription Factor*/genetics
Strabismus*/diagnosis
Strabismus*/genetics
Eye Proteins/genetics ; Homeodomain Proteins/genetics ; Humans ; Mutation, Missense ; Pedigree ; Phenotype

Czasopismo naukowe

na półce

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Skocz do pozycji: 18.

Tytuł:: The artificial iris - Analysis of various implantation techniques after ocular trauma.
Autorzy:: Krishnan VM; KRH Klinikum Nordstadt, Haltenhoffstrasse, Hannover, Germany; Augencenter Nüschelerstrasse, Nüschelerstrasse, Zürich; University of Basel, Petersplatz 1, Basel, Switzerland.
Todorova MG; University of Basel, Petersplatz 1, Basel; Kantonsspital St. Gallen, St. Gallen, Switzerland.
Wiechens B; KRH Klinikum Nordstadt, Haltenhoffstrasse, Hannover; Augenärztliche Gemeinschaftspraxis, Steinstrasse, Kiel, Germany.
Valmaggia C; University of Basel, Petersplatz 1, Basel; Kantonsspital St. Gallen, St. Gallen, Switzerland.
Varde MA; KRH Klinikum Nordstadt, Haltenhoffstrasse, Hannover, Germany; Kantonsspital St. Gallen, St. Gallen, Switzerland.; Pokaż więcej
Źródło:: Indian journal of ophthalmology [Indian J Ophthalmol] 2021 Dec; Vol. 69 (12), pp. 3526-3531.
Typ publikacji:: Journal Article
MeSH Terms:: Aniridia*/surgery
Eye Injuries*/complications
Eye Injuries*/diagnosis
Eye Injuries*/surgery
Lenses, Intraocular*
Humans ; Iris/surgery ; Lens Implantation, Intraocular ; Retrospective Studies ; Visual Acuity

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 19.

Tytuł:: Over 10-year follow-up outcomes and failure analysis of black diaphragm intraocular lens implantation in traumatic Aniridia.
Autorzy:: Li J; Qingdao Eye Hospital of Shandong First Medical University, Qingdao, China.; State Key Laboratory Cultivation Base, Shandong Provincial Key Laboratory of Ophthalmology, Shandong Eye Institute, Shandong First Medical University & Shandong Academy of Medical Sciences, Qingdao, China.
Li D; Qingdao Eye Hospital of Shandong First Medical University, Qingdao, China.; State Key Laboratory Cultivation Base, Shandong Provincial Key Laboratory of Ophthalmology, Shandong Eye Institute, Shandong First Medical University & Shandong Academy of Medical Sciences, Qingdao, China.
Wu J; Qingdao Eye Hospital of Shandong First Medical University, Qingdao, China.; State Key Laboratory Cultivation Base, Shandong Provincial Key Laboratory of Ophthalmology, Shandong Eye Institute, Shandong First Medical University & Shandong Academy of Medical Sciences, Qingdao, China.
Dong X; Qingdao Eye Hospital of Shandong First Medical University, Qingdao, China.; State Key Laboratory Cultivation Base, Shandong Provincial Key Laboratory of Ophthalmology, Shandong Eye Institute, Shandong First Medical University & Shandong Academy of Medical Sciences, Qingdao, China.; Pokaż więcej
Źródło:: Acta ophthalmologica [Acta Ophthalmol] 2021 Aug; Vol. 99 (5), pp. e724-e732. Date of Electronic Publication: 2020 Nov 16.
Typ publikacji:: Journal Article
MeSH Terms:: Forecasting*
Lenses, Intraocular*
Visual Acuity*
Aniridia/*surgery
Eye Injuries/*complications
Iris/*injuries
Lens Implantation, Intraocular/*methods
Adolescent ; Adult ; Aniridia/diagnosis ; Aniridia/etiology ; Child ; Eye Injuries/diagnosis ; Eye Injuries/surgery ; Follow-Up Studies ; Humans ; Iris/diagnostic imaging ; Iris/surgery ; Microscopy, Acoustic/methods ; Middle Aged ; Prosthesis Design ; Retrospective Studies ; Treatment Failure ; Young Adult

Czasopismo naukowe

na półce

Pełny tekst Szczegóły

Skocz do pozycji: 20.

Tytuł:: A rare case of an isolated PAX6 mutation, aniridia, and Wilms tumor.
Autorzy:: Lind KT; Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA.
Cost NG; Department of Surgery, Division of Urology, University of Colorado School of Medicine, Aurora, CO, USA.
Zegar K; Genetic Services, InformedDNA, St. Petersburg, FL, USA.
Kuldanek SA; Center for Cancer and Blood Disorders, Children's Hospital Colorado, Aurora, CO, USA.
Enzenauer RW; Department of Ophthalmology, Children's Hospital of Colorado, Aurora, CO, USA.
Schneider KW; Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA.; Center for Cancer and Blood Disorders, Children's Hospital Colorado, Aurora, CO, USA.; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2021 Apr; Vol. 42 (2), pp. 216-217. Date of Electronic Publication: 2020 Dec 10.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Codon, Nonsense*
Aniridia/*pathology
Eye Proteins/*genetics
Kidney Neoplasms/*pathology
PAX6 Transcription Factor/*genetics
Wilms Tumor/*pathology
Aniridia/complications ; Aniridia/genetics ; Child, Preschool ; Humans ; Kidney Neoplasms/complications ; Kidney Neoplasms/genetics ; Male ; Prognosis ; Wilms Tumor/complications ; Wilms Tumor/genetics

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na półce

Pełny tekst Szczegóły

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Aniridia.