Results 181 to 190 of about 35,495 (229)

Germline de novo mutation rate of the highly heterozygous amphioxus genome. [PDF]

Mol Biol Evol
Xue J, Tao L, Cao J, Wu L, Li G, Li C.
europepmc   +1 more source

Evolutionary radiation of large‐bodied gorgonopsians from the lower Abrahamskraal formation of South Africa

The Anatomical Record, EarlyView.
Abstract The middle Permian represents a critical interval in therapsid evolution, when gorgonopsians emerged as some of the first specialized apex predators within terrestrial ecosystems. Despite their significance, the early diversification of Gorgonopsia in Gondwana remains poorly understood due to scarcity and fragmentary material.
Zanildo Macungo, Ricardo Araújo, Bruce S. Rubidge, Michael O. Day, Kathleen N. Dollman, Julien Benoit   +5 more
wiley   +1 more source

ACVR mutation [NM_001105.4:c.774G>T (p.Arg258Ser)] in pediatric fibrodysplasia ossificans progressiva complicated by scoliosis: a case report. [PDF]

Front Pediatr
Yang F, Liu M, Pei S, Huang J, Wang H.
europepmc   +1 more source

Heat Stress in Quail: Impacts on Health and Productivity, and Mitigation Strategies

Animal Research and One Health, EarlyView.
Heat stress disrupts physiological homeostasis in quail, inducing oxidative stress, immune dysregulation, and metabolic imbalance, which impair growth, reproduction, product quality, and welfare. Integrating nutritional, environmental, and genetic–epigenetic strategies enhances thermotolerance, sustains productivity, and supports climate‐smart quail ...
T. A. Eletu, I. A. Anjola, L. O. Fasasi, D. P. Fadipe, A. T. Afuye, F. O. Fasanya, O. E. Oke   +6 more
wiley   +1 more source

Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of <i>RPGR</i> Variants in Early-Onset Disease. [PDF]

Ann Lab Med
Hong YJ, Hwang S, Jang JH, Kim JW, Kim SJ, Jang MA.   +5 more
europepmc   +1 more source

Recent Advances in Virus–Host Interactions, Antiviral Bioactive Compounds, and Breeding for Disease Resistance of Porcine Epidemic Diarrhea Virus

Animal Research and One Health, EarlyView.
Basic research on the PEDV infection cycle and virus–host interactions advances the development of anti‐PEDV drugs and disease‐resistant breeding and helps strengthen disease prevention and control while reducing economic losses in the swine industry.
Heyong Wu, Aosi Qi, Shuyu Zhong, Haozhen Du, Shimeng Guo, Hongsheng Ouyang, Hongming Yuan, Daxin Pang, Zicong Xie   +8 more
wiley   +1 more source

Single‐Cell RNA Sequencing Informs Precision Targeting of Monogenic Lupus Associated With IKZF1 Haploinsufficiency

Arthritis &Rheumatology, EarlyView.
Objective This study aimed to investigate the mechanisms of immune dysregulation in a pediatric patient with monogenic lupus driven by IKZF1 haploinsufficiency. Methods Peripheral immune cells from a patient with IKZF1 haploinsufficiency, patients with lupus with no currently known genetic mutations, and healthy controls were analyzed using single‐cell
Qi Zheng, Yejun Tan, Zhaoling Wang, Yanjie Qian, Qian Ma, Danping Shen, Meiping Lu   +6 more
wiley   +1 more source

Computational Evidence for Digenic Contribution of <i>AIPL1</i> and <i>BBS2</i> Rare Variants in Inherited Retinal Dystrophy. [PDF]

Int J Mol Sci
Alibrandi S, Scimone C, Abate G, Scalinci SZ, Sidoti A, Donato L.   +5 more
europepmc   +1 more source

OGFRL1 Deficiency Causes Chronic Recurrent Multifocal Osteomyelitis Via Pathologic Osteoclastogenesis, With Therapeutic Response to Tumor Necrosis Factor Inhibitor

Arthritis &Rheumatology, EarlyView.
Objective To verify the pathogenesis of the opioid growth factor receptor like‐1 (OGFRL1) loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a patient with chronic recurrent multifocal osteomyelitis (CRMO) and to investigate the underlying mechanism.
Wen Xiong, Yusha Wang, Tingyan He, Jinjian Fu, Ying Luo, Jinbo Wang, Jun Wang, Xiaomin Yu, Qing Zhou, Jun Yang   +9 more
wiley   +1 more source

Pedigree Painter (pepa): a tool for the visualization of genetic inheritance in chromosomal context. [PDF]

Bioinformatics
Pozzi A.
europepmc   +1 more source