Results 81 to 90 of about 37,333 (227)

Progress in Zinc Oxide‐Based Polymer Nanocomposites for Advancing Piezoelectric Energy Harvesting and Self‐Powered Devices

Macromolecular Materials and Engineering, Volume 310, Issue 12, December 2025.
This review highlights synthesis routes, performance optimisation, and applications of fluoropolymers/ZnO nanocomposites, offering valuable insights into piezoelectricity optimisation of materials that empower next‐generation sensors, actuators, and sustainable energy solutions. ABSTRACT Piezoelectric materials convert mechanical energy into electrical
Daphne Mary John, Pratheep Kumar Annamalai, Alireza Hosseinmardi, Sreekanth Kaduvallil Mahadeva, Kothandaraman Ramanujam, Raghuram Chetty, Rajkumar Patel, Ramanujam Brahmadesam Thoopul Srinivasa Raghava, Ashok Kumar Nanjundan   +8 more
wiley   +1 more source

The phenotypic variability of HK1-associated retinal dystrophy

Scientific Reports, 2017
Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells.
Zhisheng Yuan, Baiyu Li, Mingchu Xu, Emmanuel Y. Chang, Huajin Li, Lizhu Yang, Shijing Wu, Zachry T. Soens, Yumei Li, Lee-Jun C. Wong, Richard A. Lewis, Ruifang Sui, Rui Chen   +12 more
doaj   +1 more source

A recurrent arcuate retinopathy in familial cone-rod dystrophy secondary to heterozygous CRX deletion

Ophthalmic Genetics, 2019
Purpose: To describe an arcuate retinopathy appearance in a familial cone-rod dystrophy and the underlying genetic cause. Methods: Retrospective case series of an affected three-generation family (eight affected members, eight unaffected members) Results:
Arif O. Khan, P. Neri, Amal M. Al Teneiji   +2 more
semanticscholar   +1 more source

Identification of a Novel Splice‐Site Variant in CACNA1F With Variable Phenotypic Expression in a Chinese Family

Molecular Genetics &Genomic Medicine, Volume 13, Issue 12, December 2025.
A novel splice‐site variant (NM_005183.4:c.4422‐1G>T) in CACNA1F with familial expression variability was identified, providing new genotypic and phenotypic information on CACNA1F‐related retinal disorders. ABSTRACT Background The calcium voltage‐gated channel subunit alpha1 F (CACNA1F) gene‐related retinal disorders have overlapping clinical symptoms ...
Mojiang Li, Cheng Chen, Yingshu Li, Ting Wen, Haiyan Zhou, Wanqin Xie   +5 more
wiley   +1 more source

Beyond Cystic Fibrosis: Recognising Shwachman‐Diamond Syndrome in the Respiratory Clinic

Respirology Case Reports, Volume 13, Issue 12, December 2025.
Our case shows how SDS can mimic CF (borderline sweat electrolytes, recurrent lower respiratory infections, pancreatic insufficiency) but diverge in trajectory and management. Over 42 years, our patient demonstrated: (1) recurrent infections, (2) persistent pancreatic insufficiency and (3) intermittent neutropenia.
Freda Yang, Ladina Weitnauer, Imogen Felton, Nicholas J. Simmonds   +3 more
wiley   +1 more source

Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging

British Journal of Ophthalmology, 2017
Purpose Several genes causing autosomal-dominant cone-rod dystrophy (AD-CRD) have been identified. However, the mechanisms by which genetic mutations lead to cellular loss in human disease remain poorly understood.
Hongxin Song, E. Rossi, E. Stone, L. Latchney, David Williams, A. Dubra, Mina M. Chung   +6 more
semanticscholar   +1 more source

Retinitis Pigmentosa‐Associated Gene TRIM49 Regulates ULK1‐Mediated Autophagy and Photoreceptor Phagocytosis by the Retinal Pigment Epithelium

Advanced Science, Volume 12, Issue 43, November 20, 2025.
Based on next‐generation sequencing data of retinitis pigmentosa (RP) patients and controls, this study identifies TRIM49 as a novel gene for autosomal recessive RP. TRIM49 is specifically expressed in the retinal pigment epithelium (RPE) of human retina.
Zhen Yi, Chaojuan Wen, Han Du, Yingwei Wang, Shuowei Chen, Jie Liu, Shuhan Zhang, Junwen Wang, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Yi Jiang, Jiamin Ouyang, Panfeng Wang, James Fielding Hejtmancik, Wenmin Sun, Huangxuan Shen, Qingjiong Zhang   +17 more
wiley   +1 more source

Progressive Cone-Dystrophy, Cone-Rod Dystrophy, and Rod-Cone Dystrophies

Güncel Retina Dergisi (Current Retina Journal), 2021
Cone-rod dystrophies are retinopathies in which cones are mainly affected and rod-cone dystrophies (retinitis pigmentosa) are retinopathies in which rods are mainly affected. The most common symptoms in cone-rod dystrophies are a progressive decrease in central vision and color vision loss.
openaire   +1 more source

A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Non‐syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy.
Andrea Guala, Fabio Sirchia, Claudia Scotti, Elena Rossi, Roberta Falcioni, Silvano Ragozza, Antonella Casella, Enza Maria Valente, Cesare Danesino   +8 more
wiley   +1 more source

Reactivating the phototransduction cascade with a mutation agnostic gene therapy preserves vision in rod-cone dystrophies

iScience
Summary: Rod-cone dystrophy (RCD) comprises genetic conditions where rod photoreceptor degeneration leads to cone loss, causing progressive vision loss.
Cardillia-Joe Simon, Hanen Khabou, Antoine Chaffiol, Marco Rucli, Marion Finzi, Nat Norberg, Anaïs Grimaud, Brix Mücher, Mélissa Desrosiers, Serge Sancho, Vera Lucia Bonilha, Kate Grieve, Jens Duebel, Michel Paques, Serge Picaud, José Alain Sahel, Isabelle Audo, Stefan Herlitze, Deniz Dalkara   +18 more
doaj   +1 more source