Results 81 to 90 of about 43,307 (224)

Similar content of phospholipids and gangliosides in normal and homozygous familial hypercholesterolemia fibroblasts.

Journal of Lipid Research, 1978
The cellular content of total and individual phospholipids and gangliosides was measured in fibroblasts cultured from four normal subjects, three patients with lysosomal lipid storage diseases, and two subjects with homozygous familial ...
P H Fishman, R M Bradley, M S Brown, J R Faust, J L Goldstein   +4 more
doaj   +1 more source

Conservation implications of low contemporary connectivity along the Mid‐Atlantic Ridge in hydrothermal vent gastropods

Conservation Biology, EarlyView.
Abstract Polymetallic sulfide deposits produced at hydrothermal vent fields are targets for mining exploitation along the Mid‐Atlantic Ridge, threatening the functioning and resilience of vent ecosystems that provide multiple ecosystem services. Knowledge about connectivity between vents will inform conservation practices.
E. Portanier, A. Tran Lu Y, F. Pradillon, C. Daguin‐Thiébaut, S. Ruault, P. Collins, E. Omnes, S. Fuchs, J. Carlsson, D. Jollivet, M. Matabos   +10 more
wiley   +1 more source

Endemic but not eroded: Genomic distinctiveness and conservation genomics of the British swallowtail butterfly (Papilio machaon britannicus)

Insect Conservation and Diversity, EarlyView.
Through whole‐genome sequencing of P. machaon populations across Europe, we demonstrate that P. m. britannicus forms a genetically distinct and isolated lineage. Demographic modelling revealed weak historical gene flow from the continent. Although P. m.
Benoit Nabholz, Eliette L. Reboud, Bérénice J. Lafon, Adam M. Cotton, Martin G. Partridge, N. Mark Collins, Fabien L. Condamine   +6 more
wiley   +1 more source

The Risk of Alzheimer Disease in APOE4 Homozygotes

JAMA Neurology
This Viewpoint discusses the risk of Alzheimer disease in APOE4 homozygotes.
Reiman, Eric M., Ghisays, Valentina, Langbaum, Jessica B.   +2 more
openaire   +2 more sources

Iron Overload: Pathophysiology, Diagnosis and Monitoring

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Iron overload is associated with significant health risks, underscoring the importance of understanding its pathophysiology as well as establishing accurate diagnostic and monitoring methods. Chronic iron overload is associated with either genetic disorders characterized by excessive iron accumulation (hereditary hemochromatosis), or is ...
Elena Chatzikalil, Polyxeni Delaporta, Konstantinos Bistas, Antonis Kattamis   +3 more
wiley   +1 more source

A case of maturity‐onset diabetes of the young with a pathogenic HNF1A variant and a coexisting NEUROD1 variant

Journal of Diabetes Investigation, EarlyView.
ABSTRACT Aims/Introduction Maturity‐onset diabetes of the young (MODY) accounts for at least 1%–5% of diabetes cases and is usually caused by single gene variants. Accurate diagnosis of MODY is important for effective management, especially in young individuals who are lean and lack islet autoantibodies.
Tomofumi Takayoshi, Yushi Hirota, Kenji Sugawara, Aki Sugano, Mika Ohta, Takehito Takeuchi, Akane Yamamoto, Wataru Satake, Yutaka Takaoka, Wataru Ogawa   +9 more
wiley   +1 more source

OsCPN10a, cooperating with OsCPN20 and OsHSP60‐3B negatively regulate ABA signaling and enhance seed storability in rice

Journal of Integrative Plant Biology, EarlyView.
Abscisic acid signaling homeostasis is essential for seed storability. The molecular chaperone OsCPN10a enhances rice seed storability by forming a trimeric chaperone complex with OsCPN20‐OsHSP60‐3B that attenuates abscisic acid signaling via direct interaction with OsPYL10‐OsABIL1, thereby maintaining starch integrity and offering a promising target ...
Sufeng Liao, Yidong Wei, Yongsheng Zhu, Kunyang Li, Ting Chen, Shuai Zhao, Fangxi Wu, Jinlan Wang, Pengbo Yu, Hongguang Xie, Liping Chen, Qiuhua Cai, Huaan Xie, Jianfu Zhang   +13 more
wiley   +1 more source

ATXR5 and ATXR6 restrict meiotic crossover formation within heterochromatin in Arabidopsis

Journal of Integrative Plant Biology, EarlyView.
The Arabidopsis H3K27 mono‐methyltransferases ATXR5 and ATXR6 repress crossovers within meiotic heterochromatin, are required for heterochromatin condensation and H3K27me1 establishment, and specifically influence the maintenance of DNA methylation in meiocytes.
Jun Zhang, Yue Yu, Han Wang, Meiling Li, Dingning Li, Chenjiang You, Yingxiang Wang, Cong Wang   +7 more
wiley   +1 more source

Genetic Structure of Alpha S1 Casein in Slovak Pinzgau Cattle

Scientific Papers Animal Science and Biotechnologies, 2023
The work was oriented to identification of -s1 casein gene polymorphism and analysis of genotype structure in population of Slovak Pinzgau cattle. The material involved 39 cattle.
Anna Trakovická, Michal Gábor
doaj  

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source