Results 241 to 250 of about 91,700 (319)

Effect of Environmental and Spatial Factors on Multi-Diversity in Mt. Huangshan. [PDF]

Ecol Evol
Lv T, Zhao R, Wang N, Xie L, Chen S, Ding H, Fang Y.   +6 more
europepmc   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

A robust edge-detection approach for precise delineation of deep structures from potential field data: Structural insights supported by remote sensing. [PDF]

Sci Rep
Eldosouky AM, Saada SA, Allam SA, El-Gawad AA, Henaish A, Zamzam S.   +5 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Family farm transfer in Europe : a focus on the financial and fiscal facilities in six European countries [PDF]

Bommel, K.H.B., van, Veen, H.B., van der, Venema, G.S.   +2 more
core   +1 more source

AIF1L as a Ferroptosis-Linked Biomarker in Microsatellite States-Driven Colorectal Cancer: Functional and Diagnostic Insights From Multiomics Analysis. [PDF]

Hum Mutat
Qin Y, Zhou H, Zhu L, Li W, Jiang Z, Li L, Wu M.   +6 more
europepmc   +1 more source

Compound Heterozygosity in PGAP3 Causing Mabry Syndrome in a South African Patient

American Journal of Medical Genetics Part A, EarlyView.
Carli Loubser, Shahida Moosa
wiley   +1 more source

Mechanisms of Mitochondrial Toxicity and Cytotoxicity Caused by Pseudomonas aeruginosa Pyocyanin in Human Nasal Epithelial Cells

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Pseudomonas aeruginosa is an opportunistic pathogen in cystic fibrosis‐related chronic rhinosinusitis (CF‐CRS) that produces phenazine metabolites pyocyanin and 1‐hydroxyphenazine (1‐HP), which may have detrimental effects on mitochondria, reactive oxygen species (ROS), Ca2+ signaling, and apoptosis.
Joel C. Thompson, April Park, Yobouet Ines Kouakou, Zoey A. Miller, Nabil F. Darwich, Nithin D. Adappa, James N. Palmer, Ryan M. Carey, Robert J. Lee   +8 more
wiley   +1 more source

On the Billefjorden fault zone in Garmdalen, central Spitsbergen: implications for the mapping of major fault zones during geological fieldwork and for the tectonic history of Svalbard. [PDF]

Open Res Eur
Koehl JP, Stokmo EMB, Muñoz-Barrera JM.
europepmc   +1 more source

Generating golden Syrian hamsters with conditional alleles via zygote microinjection of CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
We established the first conditional knockout (cKO) model in the golden Syrian hamster by CRISPR/Cas9‐mediated genome editing. Cas9 protein, two sgRNAs, and a donor plasmid carrying loxP‐flanked exon 2 of the ApoF gene were microinjected into one‐cell embryos. The floxed allele was efficiently generated (up to 27%) and transmitted through the germline.
Wei Chen, Xu Zhang, Rui Fan, Xia Li, Feifei Guan, Gefan Wan, Weining Kong, Xiaolong Qi, Shuo Pan, Sijing Shi, Yuanlong Su, Shan Gao, Wei Huang, Xunde Xian, Jiangning Liu, Yuhui Wang, Yuanwu Ma   +16 more
wiley   +1 more source