Results 131 to 140 of about 106,393 (261)

Bi-allelic variants in AP5Z1 and AP5B1 lead to retinal degeneration. [PDF]

HGG Adv
Hussain HMJ, Wang M, Yang P, Tasharrofi B, Li Y, Clark RL, Fale-Olsen E, Waldow G, Keramatipour M, Asadollahi M, Pennesi ME, Chen R.   +11 more
europepmc   +1 more source

Proteomic and metabolic signatures of female reproductive factors and risk of age‐related ocular diseases: A large prospective cohort study

VIEW, EarlyView.
The full editable vector source file of this graphical abstract is uploaded as a supplementary EPS file for typesetting. All elements are copyright‐free. Abstract Age‐related ocular diseases (ARODs), including cataract, primary open‐angle glaucoma (POAG), and age‐related macular degeneration (AMD), are leading causes of vision impairment and exhibit ...
Linge Jian, Zhiqian Huang, Keke Zhang, Jing Lin, Jia You, Yi Lu, Xiangjia Zhu   +6 more
wiley   +1 more source

The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype

Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli, Christelle Nilles, Gerald Pfeffer, Matthew Joel, Davide Martino   +4 more
wiley   +1 more source

Epac1 Alleviates Senescence in Auditory Hair Cells via the Ferroptosis

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objectives The aim of this study was to investigate the changes in Epac1 and ferroptosis‐related proteins in aged mice and the House Ear Institute‐Organ of Corti 1 (HEI‐OC1) cells, with the goal of elucidating their potential role in age‐related hearing loss. Methods The expression of Epac1 in the cochlea of C57BL/6J mice was examined by using
Wen‐Jun An, Chen‐Yu Xu, Meng‐Ya Shen, Xiao‐Tao Guo, Chun‐Chen Pan, Jing‐Wu Sun, Xiao‐Min Tang, Jia‐Qiang Sun   +7 more
wiley   +1 more source

Quantitative Markers of Neural Changes, Retinal Thickness, and Responses to Electrical Stimulation in Retinal Degeneration. [PDF]

Ophthalmol Sci
Reynisson H, Nguyen M, Kalloniatis M, Nivison-Smith L, Shivdasani MN.   +4 more
europepmc   +1 more source

Hypertensive Disorders of Pregnancy and the Long‐Term Risk of Maternal Retinal and Ophthalmic Disease: A Systematic Review and Meta‐Analysis

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Background Hypertensive disorders of pregnancy (HDP) are associated with increased long‐term risk of maternal cardio‐metabolic disease, but links with future retinal diseases remain unclear. Objective The objective of this study is to synthesise the published literature on HDP and subsequent retinal and other ophthalmic disease.
Peter Barrett, Cian Carey, Sinéad O'Riordan, Angela Ding Wu, Emma Wallace, Matilda Biba, Karolina Kublickiene, Fergus McCarthy, Ali Khashan   +8 more
wiley   +1 more source

Store-operated calcium entry drives alcohol-exacerbated neuroinflammation in retinal degeneration. [PDF]

Cell Death Discov
Lima-Vasconcellos TH, Menezes BA, Móvio MI, Bovi Dos Santos G, Badin GM, Silva W, Kihara AH.   +6 more
europepmc   +1 more source

Assessing a Model for a Complex Systemic Disorder—The Value of Male Mice With a Supernumerary X Chromosome for Klinefelter Syndrome Research

Andrology, EarlyView.
ABSTRACT Introduction Direct experimental investigation of Klinefelter syndrome (KS) in patients is limited because the syndrome manifests heterogeneously and affects multiple organ systems. Studying KS therefore requires a model that captures this complexity as accurately as possible while still permitting controlled experimental manipulation ...
Fariba Saadati, Joachim Wistuba
wiley   +1 more source

A congenic C57BL/6J rd1 mouse model for retinal degeneration research. [PDF]

Exp Eye Res
Chandler LC, Gardner A, Cepko CL.
europepmc   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source