Robust Genetic Analysis of the X-Linked Anophthalmic (
X-chromosome
X-ray induced allele
Zic3
anophthalmia
eye development
genome wide analysis
linkage analysis
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
05 10 2022
05 10 2022
Historique:
received:
05
08
2022
revised:
25
09
2022
accepted:
29
09
2022
entrez:
27
10
2022
pubmed:
28
10
2022
medline:
29
10
2022
Statut:
epublish
Résumé
Anophthalmia (missing eye) describes a failure of early embryonic ocular development. Mutations in a relatively small set of genes account for 75% of bilateral anophthalmia cases, yet 25% of families currently are left without a molecular diagnosis. Here, we report our experimental work that aimed to uncover the developmental and genetic basis of the anophthalmia characterising the X-linked
Identifiants
pubmed: 36292683
pii: genes13101797
doi: 10.3390/genes13101797
pmc: PMC9601528
pii:
doi:
Substances chimiques
Transcription Factors
0
Chromatin
0
DNA
9007-49-2
Zic3 protein, mouse
0
Homeodomain Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Medical Research Council
ID : MC_UU_00009/2
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S033165/1
Pays : United Kingdom
Organisme : Biotechnology and Biological Sciences Research Council
ID : BBS/E/D/10002071
Pays : United Kingdom
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest.
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