Results 251 to 260 of about 79,198 (289)

Delayed‐onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the RPGRIP1 variant

Veterinary Ophthalmology, Volume 29, Issue 1, January 2026.
Abstract Objective Cone‐rod dystrophy (cord1) is a form of progressive retinal atrophy. It is linked to an RPGRIP1 genetic variant which is the third most common canine disease variant thus far. While the variant affects various breeds, it is highly prevalent in English Springer Spaniels (ESSs).
Jennifer C. Kwok, Yu Sato, Jessica K. Niggel, Emma Ozdogan, Leonardo Murgiano, Keiko Miyadera   +5 more
wiley   +1 more source

The effect of circulating micronutrients on nasopharyngeal carcinoma: A Mendelian randomization study. [PDF]

Medicine (Baltimore)
Huang GJ, Tang N, Fan ZJ, Luo MS, Lu BQ.
europepmc   +1 more source

Genomic Validation of PERV‐C‐Free Pigs to Support Xenotransplantation

Xenotransplantation, Volume 33, Issue 1, January/February 2026.
ABSTRACT Porcine endogenous retroviruses (PERVs) are present in the germ lines of domesticated pigs (Sus scrofa) and related suids. There are three types of PERVs, PERV‐A, ‐B, and ‐C, which differ in their host range. PERV‐A and ‐B can infect human and porcine cells, while PERV‐C only infects porcine cells. PERV‐A and ‐B are found in the genomes of all
Neal R. Benjamin, Giovanni Madrigal, Yasuko Ishida, Julian Catchen, Kari L. Allen, Brent Pepin, Alfred L. Roca   +6 more
wiley   +1 more source

Indel calling from ONT sequencing data of family trios via sparse attention and 3D convolution. [PDF]

Brief Bioinform
Shi Y, Wu C, Luo S, Zhang S, Wang W, Li J.   +5 more
europepmc   +1 more source

RNA‐Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics

Human Mutation, Volume 2026, Issue 1, 2026.
Accurate identification of the genetic determinants of rare diseases is essential for effective recurrence‐risk management and informed reproductive decision‐making. Although whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) have significantly improved diagnostic capabilities, a subset of affected families still receives no definitive ...
Jinlin Ren, Congling Dai, Fei Meng, Pan Zhang, Chunbo Xie, Wenjuan Xiao, Wenbin He, Shimin Yuan, Xiurong Li, Qianjun Zhang, Weiling Tang, Liang Hu, Zixu Chen, Guangxiu Lu, Juan Du, Sicong Zeng, Ge Lin, Stuart Scott   +17 more
wiley   +1 more source

Mendelian causes of early-onset emphysema: a review of the current literature. [PDF]

Eur Respir Rev
Karabatic A, van den Berge M, Carroll TP, Guryev V, Faiz A.   +4 more
europepmc   +1 more source

Protective Effects of Bone Mineral Density on Age‐Related Macular Degeneration: A Mendelian Randomization Study

International Journal of Endocrinology, Volume 2026, Issue 1, 2026.
Introduction Observational studies have established the connection between a decrease in bone mineral density (BMD) and an increased susceptibility to age‐related macular degeneration (AMD). However, the cause‐and‐effect link of this correlation remains uncertain. This study employed Mendelian randomization (MR) methods to examine the causality between
Yuxin Sun, Junfei Huang, Ziran Zhang, Zejun Chen, Zhengran Li, Fanye Wu, Zijin Wang, Tong Wu, Guoguo Yi, Fanke Meng, Shuduan Wu, Suraiya Saleem   +11 more
wiley   +1 more source

Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability. [PDF]

BMC Med Genomics
Xu J, Xu Y, Su W, Chen L, Wang Y, Li H.
europepmc   +1 more source

In Vitro Evaluation and Network Pharmacology Analysis of the Antimicrobial Activity of Pistacia lentiscus

International Journal of Dentistry, Volume 2026, Issue 1, 2026.
Background Chios mastic gum, a natural resin derived from the mastic tree, has a history of traditional use for its beneficial effects on the gastrointestinal system, its anti‐inflammatory properties, and its antimicrobial activity. Objective This study aimed to integrate network pharmacology and standardized in vitro analyses to elucidate the ...
Aparna Ganeshkumar, Ram Sabarish, Nadha Shakir, Divya Shree Sankar, Adelyn Jerusha Franklin, Nagalakshmi Gandhi, Kennedy Kumar, Amjad Abu Hasna   +7 more
wiley   +1 more source

The association between parental BMI and offspring adiposity: A genetically informed analysis of trios. [PDF]

PLoS Genet
Wright L, Shireby G, Morris TT, Davies NM, Bann D.   +4 more
europepmc   +1 more source