Results 51 to 60 of about 1,685,969 (303)

A novel de novo RNF13 variant in developmental and epileptic encephalopathy 73: genotype–phenotype correlation and literature review

BMC Neurology
Background Developmental and epileptic encephalopathy-73 (DEE73, OMIM: #618379) is a rare autosomal dominant genetic disorder. This study reports a novel de novo RNF13 variant in a Chinese patient, aiming to assess its pathogenicity and expand ...
Qiang Zhang, Qi Yang, Xunzhao Zhou, Shujie Zhang, Yiyan Ruan, Jingsi Luo   +5 more
doaj   +1 more source

Multi-omics evaluation of the prognostic value and immune signature of FCN1 in pan-cancer and its relationship with proliferation and apoptosis in acute myeloid leukemia

Frontiers in Genetics
BackgroundThe FCN1 gene encodes the ficolin-1 protein, implicated in the pathogenesis of various diseases, though its precise role in tumorigenesis remains elusive. This study aims to elucidate the prognostic significance, immune signature, and treatment
Fangfang Zhong, Lijun Song, Hao li, Jing Liu, Chunyan Liu, Qulian Guo, Wenjun Liu   +6 more
doaj   +1 more source

Superstructured Macroporous Carbon Rods Composed of Defective Graphitic Nanosheets for Efficient Oxygen Reduction Reaction

Advanced Science, 2021
Rationally designed carbon materials with superstructures are promising candidates in applications such as electrocatalysis. However, the synthesis of highly porous carbon superstructures with macropores and carbon defects from a simple crystalline solid
Jing Wang, Yining Yao, Chaoqi Zhang, Qiang Sun, Dan Cheng, Xiaodan Huang, Jiayou Feng, Jingjing Wan, Jin Zou, Chao Liu, Chengzhong Yu   +10 more
doaj   +1 more source

From junk to function — How weak selection in eukaryotes builds new parts and drives genomic complexity

FEBS Letters, EarlyView.
How do genomes gain new functional parts? In eukaryotes, which tend to evolve under weak selection, much of the genome is junk. Palazzo and Qiu borrow the logic of Markov chains to show how non‐functional DNA becomes functional through the appearance of intermediate states, which arise due to epistasis, buffering, and biochemical messiness, allowing ...
Alexander F. Palazzo, Yi Qiu
wiley   +1 more source

Chiral separation of chloroalkanes with the chromatographic column onboard Martian rovers

FEBS Letters, EarlyView.
Computer image of the Rosalind Franklin Rover of ESA's ExoMars mission. ExoMars is scheduled to land on planet Mars in Oxia Planum in 2029. This area represents an interesting spot to look for biosignatures. Investigations of ExoMars include measurement on molecular chirality. We show that chiral chloroalkanes, that have been identified on Mars, can be
Asma Merzougui, Agnes Banreti, Armelle L. Ernst, Guillaume Leseigneur, Uwe J. Meierhenrich   +4 more
wiley   +1 more source

Abnormal skull findings in neural tube defects [PDF]

, 2009
The human neural tube develops and closes during the third and fourth week after conception and is normally completed by 28 days post-conception. Malformations, knows as neural tube defects, occure, when the normal closure process fails. Several clinical
Cacciatore , Alessandro, Carrara, Sabina, Rapisarda, Giulia, La Galia, Tindara, Recupero , Stefania, Mammaro, Alessia, Accardi, Manuela Chiara, Pedata, Rosa, Imbruglia, Laura, Pappalardo, Elisa Maria   +9 more
core   +1 more source

A surveillance-based epidemiological study of renal agenesis in 25 million births in china, 2007–2020

BMC Pregnancy and Childbirth
Background Renal agenesis (RA), a rare congenital kidney defect, varies in clinical severity. Unilateral renal agenesis (URA) is more prevalent and may cause long-term renal complications, whereas bilateral renal agenesis (BRA) is typically fatal.
Yuyang Gao, Wenli Xu, Wenyan Li, Zhiyu Chen, Qi Li, Zhen Liu, Li Dai   +6 more
doaj   +1 more source

Leucine‐rich glioma inactivated 1 (LGI1) is a ganglioside‐binding protein

FEBS Letters, EarlyView.
Neuronal hyperexcitability associated with a decrease/absence of the extracellular protein LGI1 has been suggested to be primarily due to the downregulation of Kv1 channel expression. The molecular mechanisms underlying this decrease have not yet been elucidated.
Kévin Debreux, Christian Lévêque, Fodil Azzaz, Marion Sangiardi, Sarosh R Irani, Michael Seagar, Jacques Fantini, Oussama El Far   +7 more
wiley   +1 more source

Genetics of human neural tube defects [PDF]

, 2009
Neural tube defects (NTDs) are common, severe congenital malformations whose causation involves multiple genes and environmental factors. Although more than 200 genes are known to cause NTDs in mice, there has been rather limited progress in delineating ...
Stanier, P., Greene, N. D.E., Copp, A. J.   +2 more
core  

Developmental Defects of Enamel in Primary Teeth and Association with Early Life Course Events: A Study of 6--36 Month old Children in Manyara, Tanzania. [PDF]

, 2013
Children with low birth weight show an increased prevalence of developmental defects of enamel in the primary dentition that subsequently may predispose to early childhood caries (ECC).Focusing 6--36 months old, the purpose of this study was to assess ...
Ray Masumo, Asgeir Bårdsen, Bårdsen, Asgeir, Anne Nordrehaug Åstrøm, Masumo, Ray, Astrøm, Anne Nordrehaug   +5 more
core   +2 more sources