Results 61 to 70 of about 21,924 (264)

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

Clinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari, Jade Charbonneau, Valancy Miranda, Khadijé Jizi, Marie‐Ange Delrue, Patricia Egerszegi, Isabelle Thiffault, Philippe M. Campeau   +7 more
wiley   +1 more source

CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6

Clinical Genetics, EarlyView.
CRISPR activation of NEB in fibroblasts, followed by RNA‐sequencing, documents spliceogenic effects of a NEB intronic variant. The assay enabled variant reclassification as likely pathogenic, providing molecular diagnosis in fetuses with Arthrogryposis multiplex congenita 6.
Doriana Misceo, Thorkild Terkelsen, Sara Margrete Bøen Keim, Pål Marius Bjørnstad, Mari Elen Strand, Vivian Cecilie Orszagh, Uffe Birk Jensen, Eirik Frengen   +7 more
wiley   +1 more source

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Clinical Genetics, EarlyView.
A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Omar Zgheib, Thomas Rio‐Frio, Michel Guipponi, Thierry Nouspikel, Siv Fokstuen, Marc Abramowicz, Philippe Khau Van Kien   +6 more
wiley   +1 more source

MiR-199a-3p/5p participated in TGF-β and EGF induced EMT by targeting DUSP5/MAP3K11 in pterygium

Journal of Translational Medicine, 2020
Recently, it has been reported that miRNA is involved in pterygium, however the exact underlying mechanism in pterygium is unrevealed and require further investigation.
Siying He, Yifang Huang, Shiqi Dong, Chen Qiao, Guohua Yang, Shuai Zhang, Chen Wang, Yuting Xu, Fang Zheng, M. Yan   +9 more
semanticscholar   +1 more source

Interventional human ocular safety experiments for 222‐nm far‐ultraviolet‐C lamp irradiation

Photochemistry and Photobiology, Volume 101, Issue 2, Page 517-526, March/April 2025.
To directly assess the ocular safety of 222‐nm far‐ultraviolet‐C (UVC) irradiation in humans, five subjects were exposed to 222‐nm UVC at doses of 22, 50, and 75 mJ/cm2. The findings indicate that far‐UVC irradiation does not cause “clinically significant photokeratitis” or long‐term ocular damage, though it may induce temporary discomfort.
Kazunobu Sugihara, Sachiko Kaidzu, Masahiro Sasaki, Masaki Tanito   +3 more
wiley   +1 more source

Lack of HPV in pterygium with no evidence of autoinoculation and the role of cytokines in pterygium with dry eye

Scientific Reports, 2021
This study evaluated human papillomavirus’s (HPV) role in pterygium pathogenesis, its autoinoculation from genitalia to ocular surface, potential cytokines involved, and crosstalk cytokines between pterygium and dry eye (DE).
Lita Uthaithammarat, Ngamjit Kasetsuwan, Yuda Chongpison, Pimpetch Kasetsuwan, Usanee Reinprayoon, Pornjarim Nilyanimit, Yong Pooworawan   +6 more
doaj   +1 more source

The in vitro anti-fibrotic effect of Pirfenidone on human pterygium fibroblasts is associated with down-regulation of autocrine TGF-β and MMP-1

International Journal of Medical Sciences, 2020
We aimed to investigate the in vitro effect of pirfenidone (PFD) on proliferation, migration and collagen contraction of human pterygium fibroblasts (HPFs). HPFs were obtained from tissue explants during pterygium surgery.
Yijin Tao, Qin Chen, Can Zhao, Xiao Yang, Qing Cun, Wenyan Yang, Y. Zhang, Ying-Ting Zhu, H. Zhong   +8 more
semanticscholar   +1 more source

Comparison of conjunctival pedicle flap to corneal fixation strength achieved by Tisseel® fibrin glue, ethyl cyanoacrylate adhesive, ReSure® hydrogel sealant, and conventional suturing with 8‐0 VICRYL® ophthalmic suture

Veterinary Ophthalmology, Volume 28, Issue 2, Page 253-263, March 2025.
Abstract Objective To determine and compare the fixation strength of conjunctival pedicle flaps to cornea achieved via conventional ophthalmic suture and three different adhesive compounds. Animals Studied Ex vivo porcine globes. Procedures Following a 6 mm wide 500‐micron‐restricted depth lamellar keratectomy, conjunctival pedicle flaps were secured ...
Elodie M. VerHulst, Roxanne M. Rodriguez Galarza, Ian P. Herring, Renata Velloso Ramos, Andrew R. Kemper   +4 more
wiley   +1 more source

Automated Pterygium Detection Using Deep Neural Network

IEEE Access, 2020
Ocular imaging has developed rapidly and plays a critical role in clinical care and ocular disease management. Development of image processing technologies pertinent to ocular diseases has paved the way for automated diagnostic systems including ...
N. S. M. Zamani, W Mimi Diyana W Zaki, Aqilah Baseri Huddin, A. Hussain, H. Mutalib, Aziah Ali   +5 more
semanticscholar   +1 more source

Progression and topographic subtypes of Terrien marginal degeneration

Acta Ophthalmologica, Volume 104, Issue 1, Page 33-43, February 2026.
Abstract Purpose To report long‐term outcomes and to search for immunological and genetic risk factors in Terrien marginal degeneration (TMD). Methods Retrospective, in part prospective, hospital‐based longitudinal follow‐up study of 32 eyes of 16 Finnish patients from 2012 to 2023. Median follow‐up was 7.3 years (range, 0.3–15.2).
Minna Ruutila, Pauliina Repo, Annamari T. Immonen, Joni A. Turunen, Marja‐Liisa Lokki, A. Inkeri Lokki, Jukka Moilanen, Kari Krootila, Tero T. Kivelä   +8 more
wiley   +1 more source