Genetics of the anterior segment dysgenesis

Autor: Diego I Paredes, Jenina E Capasso, Celeste S Wyman, Alex V Levin

Publikováno v: Taiwan Journal of Ophthalmology, Vol 13, Iss 4, Pp 500-504 (2023)

The anterior segment dysgeneses are a broad group of heterogeneous disorders characterized by developmental abnormalities of the anterior segment of the eye, including primary congenital aphakia, Peters sequence, aniridia, and Axenfeld–Rieger spect

Externí odkaz: https://doaj.org/article/1adacfcb899847a9b379ddc7047fe7d0

Chromosomal microarray in isolated congenital and developmental cataract

Autor: Thales A. C De Guimarães, Jenina E Capasso, Nicholas R Bello, Nutsuchar Wangtiraumnuay, Michelle D Lingao, Wadakarn Wuthisiri, Yu-Hung Lai, Erica S Johnson, Mario Zanolli, Vikas Khetan, Renu Bajaj, Zi-Xuan Wang, Stephen C Peiper, Alex V Levin

Publikováno v: The Pan-American Journal of Ophthalmology, Vol 3, Iss 1, Pp 10-10 (2021)

Introduction: The etiologies of congenital and developmental cataracts are diverse. Most are not syndromic and have no identifiable cause, thus creating a diagnostic dilemma. We investigated the utility of chromosomal microarray in identifying the et

Externí odkaz: https://doaj.org/article/fd3b63abdfa047ddbf7c19b4cde36fc1

Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis

Autor: Amani Albakri, Phattrawan Pisuchpen, Jenina E. Capasso, Adele Schneider, Sarina Kopinsky, Tom Glaser, John P.‐W. Chiang, Anamaria Akapito Yomai, Donna McNear, Alex V. Levin

Publikováno v: American journal of medical genetics. Part AREFERENCES.

The purpose of this article is to determine the cause of Leber congenital amaurosis (LCA) in Chuuk state, Federated States of Micronesia (FSM). In this prospective observational case series, five patients with early-onset vision loss were examined in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eab36af6e18ed09ed7fed2d84538d4c
https://pubmed.ncbi.nlm.nih.gov/36595661

Comprehensive phenotypic and functional analysis of dominant and recessiveFOXE3alleles in ocular developmental disorders

Autor: Jana Moravikova, Thomas M Glaser, Samuel Thompson, William Allen, Sarah E Seese, Lubica Dudakova, Alex V. Levin, Adele Schneider, Jenina E. Capasso, Frantisek Malinka, Elena V. Semina, Petra Liskova, Linda M. Reis, Elena A. Sorokina, Pavlina Skalicka, Tanya Bardakjian, Ayesha Khan

Publikováno v: Human Molecular Genetics

The forkhead transcription factor FOXE3 is critical for vertebrate eye development. Recessive and dominant variants cause human ocular disease but the full range of phenotypes and mechanisms of action for the two classes of variants are unknown. We i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cfec97bce07366523b957757eb67830
https://doi.org/10.1093/hmg/ddab142

CNGB1 ‐related rod‐cone dystrophy: A mutation review and update

Autor: Brooke Saffren, Bernd Wissinger, Eberhart Zrenner, Fadi Nasser, José-Alain Sahel, Christel Condroyer, Claire Marie Dhaenens, Stephen H. Tsang, Vivienne C. Greenstein, Rola Ba-Abbad, Isabelle Audo, Melanie Kempf, Susanne Kohl, Omar A. Mahroo, Cyntia Solis Hernandez, Andrew R. Webster, Nan-Kai Wang, Janet R. Sparrow, Saddek Mohand-Said, Vasily M. Smirnov, Simon M. Petersen-Jones, Sabine Defoort-Dhellemmes, Alex V. Levin, Laura Kühlewein, Sara D. Ragi, William W. Hauswirth, Jenina E. Capasso, Marco Nassisi, Michel Michaelides, Christina Zeitz, Stylianos Michalakis, Simona Degli Esposti, Aline Antonio

Publikováno v: Human Mutation
Human Mutation, Wiley, 2021, 42 (6), pp.641-666. ⟨10.1002/humu.24205⟩
Human Mutation, 2021, 42 (6), pp.641-666. ⟨10.1002/humu.24205⟩

International audience; Cyclic nucleotide-gated channel β1 (CNGB1) encodes the 240-kDa β subunit of the rod photoreceptor cyclic nucleotide-gated ion channel. Disease-causing sequence variants in CNGB1 lead to autosomal recessive rod-cone dystrophy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb0005fb0b27c540652f4f0ab9be95ae
https://hal.sorbonne-universite.fr/hal-03240900/document