Results 121 to 130 of about 590,083 (218)

Comparative analysis of TP53 gene in Tupaia belangeri subspecies (Tupaia belangeri yaoshanensis vs. Tupaia belangeri chinensis) and identification of mutations in spontaneous tumor cases

Animal Models and Experimental Medicine, EarlyView.
This study provides the first evidence of natural TP53 variation between tree shrew subspecies and identifies somatic TP53 mutations in spontaneous tree shrew sarcomas. The high structural and functional conservation of tree shrew p53 with humans supports its utility as a relevant model for TP53‐related cancer research.
Yingying Cao, Haibo Tang, Liang Liang, Jing Leng, Weijian Huang   +4 more
wiley   +1 more source

Molecular diagnosis of rare biallelic CDC45 gene variants causing Meier–Gorlin syndrome-7 using whole exome sequencing

Human Genomics
Background Meier–Gorlin syndrome-7 (MGORS7) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous variants in the CDC45 gene.
Jianlong Zhuang, Nan Huang, Junyu Wang, Chunnuan Chen   +3 more
doaj   +1 more source

X-Linked Spinal Muscular Atrophy 2 due to a Synonymous Variant in the UBA1 Gene in a Family with Novel Findings from Turkey. [PDF]

Mol Syndromol, 2022
Öztürk Ö, Çavdartepe BE, Bağış H.
europepmc   +1 more source

BarnebyLives: An R package to create herbarium specimen labels and clean spreadsheets

Applications in Plant Sciences, EarlyView.
Abstract Premise Accessioning herbarium specimens is labor intensive, yet remains vital for research in ecology, evolution, and conservation. As institutional support for herbaria declines, efficient tools are needed to streamline this process. The R package BarnebyLives was developed to assist collectors by supplementing collection notes, verifying ...
Reed Clark Benkendorf, Jeremie B. Fant
wiley   +1 more source

refloraR: An R package for efficiently retrieving and analyzing plant specimen data from the Herbário Virtual Reflora

Applications in Plant Sciences, EarlyView.
Abstract Premise Advances in the digitization of herbarium collections are enabling open access to specimen data for research and conservation. In Brazil, the Herbário Virtual Reflora (HVR) hosts over 4.8 million high‐resolution images of botanical specimens and their associated data from 86 national and international herbaria.
Carlos Calderón del Cid, Ana Flávia Alves Versiane, Paula Leitman, Fabiana Ranzato Filardi, Rafaela Campostrini Forzza, Domingos Cardoso   +5 more
wiley   +1 more source

Revisiting paravertebral muscles in European rabbits (Oryctolagus cuniculus) and European brown hares (Lepus europaeus) (Leporidae; Lagomorpha)

The Anatomical Record, EarlyView.
Abstract Domesticated European rabbits (Oryctolagus cuniculus) have long been chosen as laboratory model organisms. Despite this, there has been no definitive study of the vertebral musculature of wild rabbits. Relevant descriptions of well‐studied veterinary model mammals (such as dogs) are generally applicable, but not appropriate for a species ...
Nuttakorn Taewcharoen, Emma Sherratt, Philip Stott, Rachel Norris   +3 more
wiley   +1 more source

Origin, evolution and biogeographic dynamics of the European rabbit (Oryctolagus cuniculus) in Southwestern Europe

The Anatomical Record, EarlyView.
Abstract The Pleistocene is a key period for understanding the evolutionary history and palaeobiogeography of the European rabbit (Oryctolagus cuniculus). The species was first documented in southeastern Iberia at the beginning of the Middle Pleistocene and appears to have rapidly spread throughout Southwestern Europe, where it was found in numerous ...
Maxime Pelletier
wiley   +1 more source

Mistranslation Drives Alterations in Protein Levels and the Effects of a Synonymous Variant at the Fibroblast Growth Factor 21 Locus. [PDF]

Adv Sci (Weinh), 2021
Bayoumi A, Elsayed A, Han S, Petta S, Adams LA, Aller R, Khan A, García-Monzón C, Arias-Loste MT, Miele L, Latchoumanin O, Alenizi S, Gallego-Durán R, Fischer J, Berg T, Craxì A, Metwally M, Qiao L, Liddle C, Yki-Järvinen H, Bugianesi E, Romero-Gomez M, George J, Eslam M.   +23 more
europepmc   +1 more source

Rethinking brachycephaly: Anatomical implications and health considerations in lagomorphs

The Anatomical Record, EarlyView.
Abstract Brachycephaly in domestic rabbits is increasingly perceived by welfare organizations as associated with significant health complications, particularly oral pathologies. Despite this perception, comparative anatomical research into rabbit brachycephaly is limited compared to that of dogs and cats, compelling an in‐depth examination of its ...
Helaina Cressy, Alice Nishigaki, Matthew C. Gage, Renato L. Previdelli   +3 more
wiley   +1 more source

PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature. [PDF]

Am J Med Genet A, 2022
Magyar CL, Murdock DR, Burrage LC, Dai H, Lalani SR, Lewis RA, Lin Y, Astudillo MF, Rosenfeld JA, Tran AA, Gibson JB, Undiagnosed Diseases Network, Bacino CA, Lee BH, Chao HT.   +14 more
europepmc   +1 more source