FoxO1 is a cell-specific core transcription factor for endometrial remodeling and homeostasis during menstrual cycle and early pregnancy

D Adiguzel, C Celik-Ozenci - Human reproduction update, 2021 - academic.oup.com
BACKGROUND Endometrium is a vital multicellular tissue for progression of pregnancy.
Forkhead box O1 (FoxO1) transcription factor plays an important role in the endometrium as …

Genetic aspects of keratoconus: a literature review exploring potential genetic contributions and possible genetic relationships with comorbidities

E Loukovitis, K Sfakianakis, P Syrmakesi… - Ophthalmology and …, 2018 - Springer
Introduction Keratoconus (KC) is a complex, genetically heterogeneous, multifactorial
degenerative disorder that is accompanied by corneal ectasia which usually progresses …

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

AJ Hardcastle, P Liskova, Y Bykhovskaya… - Communications …, 2021 - nature.com
Keratoconus is characterised by reduced rigidity of the cornea with distortion and focal
thinning that causes blurred vision, however, the pathogenetic mechanisms are unknown. It …

Update on the genetics of keratoconus

Y Bykhovskaya, YS Rabinowitz - Experimental Eye Research, 2021 - Elsevier
In the past few years we have seen a great acceleration of discoveries in the field of
keratoconus including new treatments, diagnostic tools, genomic and molecular …

Genetic and environmental risk factors for keratoconus

SEM Lucas, KP Burdon - Annual Review of Vision Science, 2020 - annualreviews.org
Keratoconus, a progressive corneal ectasia, is a complex disease with both genetic and
environmental risk factors. The exact etiology is not known and is likely variable between …

Genetic variants associated with corneal biomechanical properties and potentially conferring susceptibility to keratoconus in a genome-wide association study

AP Khawaja, KER Lopez, AJ Hardcastle… - JAMA …, 2019 - jamanetwork.com
Importance Keratoconus is an important cause of visual loss in young adults, but little is
known about its genetic causes. Understanding the genetic determinants of corneal …

[HTML][HTML] Association of 2 lysyl oxidase gene single nucleotide polymorphisms with Keratoconus: a Nationwide Registration Study

S Niazi, M Moshirfar, F Alizadeh, F Doroodgar… - Ophthalmology …, 2023 - Elsevier
Purpose Keratoconus (KC) is the most common primary ectatic corneal disease,
characterized by progressive thinning of the cornea, affecting its shape and structure and …

Immp2l Mutation Induces Mitochondrial Membrane Depolarization and Complex III Activity Suppression after Middle Cerebral Artery Occlusion in Mice

Y Ma, R Liang, N Ma, X Mi, Z Cheng, Z Zhang… - Current Medical …, 2023 - Springer
Objective We previously reported that mutations in inner mitochondrial membrane peptidase
2-like (Immp2l) increase infarct volume, enhance superoxide production, and suppress …

Observation of nine previously reported and 10 non-reported SLC4A11 mutations among 20 Iranian CHED probands and identification of an MPDZ mutation as …

H Moazzeni, MA Javadi, D Asgari, M Khani… - British Journal of …, 2020 - bjo.bmj.com
Background/aims SLC4A11 is the only known causative gene of congenital hereditary
endothelial dystrophy (CHED). Mutation screenings have shown that most but not all …

Whole-genome sequencing identifies novel loci for keratoconus and facilitates risk stratification in a Han Chinese population

Y Yao, X Li, L Wu, J Zhang, Y Gui, X Yu, Y Zhou, X Li… - Eye and Vision, 2025 - Springer
Background Keratoconus (KC) is a prevalent corneal condition with a modest genetic basis.
Recent studies have reported significant genetic associations in multi-ethnic cohorts …