Results 161 to 170 of about 468,507 (253)

Integrative linkage and recombination analysis of 25 X-STRs across 7 linkage groups using pedigree-based and SNP-based strategies. [PDF]

Front Genet
Qian J, Qian X, Ji Q, Li Z, Shao C, Xu H, Yang F, Xie J.   +7 more
europepmc   +1 more source

Environmental, Social, and Governance in Family Firms: A Bibliometric Review and Agenda for Future Research

Business Ethics, the Environment &Responsibility, EarlyView.
ABSTRACT This paper reviews the literature on the relationship between environmental, social, and governance (ESG) engagement and family firms. Drawing from mainstream databases, it identifies and analyzes 34 pivotal articles. Research on ESG and family firms is still emerging, but inconsistent findings and paradoxes obscure the field.
ChangYi Zhu, Alexandra Simón Villar, BingBing Ge   +2 more
wiley   +1 more source

Long-read structural variant discovery and targeted short read genotyping enables population scale characterization of structural variation in rhesus macaques. [PDF]

Genome Biol
Ray K, Mulch C, Peterson SM, Benjamin S, Gullicksrud N, Ericsen AJ, Vallender EJ, Ferguson BM, Wall JD, Bimber BN.   +9 more
europepmc   +1 more source

The diagnostic performance of the basic versus the detailed telomere Flow FISH test in young patients with aplastic anaemia

British Journal of Haematology, EarlyView.
Summary Identifying telomere biology disorders (TBDs) in patients with aplastic anaemia (AA) is essential for guiding appropriate care. Telomere length (TL) measurement by flow cytometry with fluorescence in situ hybridization supports diagnosis, but the real‐world performance of the basic test (lymphocytes and granulocytes) versus the detailed test ...
Nicholas F. DeCleene, Duc T. Nguyen, Susan E. Kirk, Hannah L. Helber, Ghadir S. Sasa, Alison A. Bertuch   +5 more
wiley   +1 more source

Molecular Diagnosis and Identification of a Novel Pathogenic Variant in Autosomal Dominant Polycystic Kidney Disease (ADPKD): A Case in Full Bloom. [PDF]

Cureus
Pallas D, Betsikos A, Zafeirouli V, Geladari V, Sabanis N.   +4 more
europepmc   +1 more source

Hypomethylating agents in vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic syndrome (VEXAS): A systematic review

British Journal of Haematology, EarlyView.
Summary VEXAS syndrome (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) is an X‐linked, systemic, haemato‐inflammatory syndrome caused by somatic mutations in the UBA1 gene. No standardized treatment guidelines exist, but evidence is emerging that treatment with hypomethylating agents (HMAs) can induce improvement of the inflammatory symptoms,
Fieke W. Hoff, Roochi Trikha, Emma M. Groarke, Bhavisha A. Patel   +3 more
wiley   +1 more source

A novel variant in the FZD4 gene leading to familial exudative vitreoretinopathy: A case report and literature review. [PDF]

Medicine (Baltimore)
Yang B, Zhou L, Ye C, Wang C, Lan X, Liu W, Chen P, Liu J.   +7 more
europepmc   +1 more source

Living on the edge: Pleistocene ice‐free refugia and collared lemming (Dicrostonyx sp.) in the North American High Arctic

Boreas, EarlyView.
Comparing the morphological variation of North American collared lemming with climatic and geographic features, as well as genetic insight and the ice sheet extend, indicate the strong geographic structure underlying the morphological diversity of the genus, that might be linked with a local Pleistocene survival in the High Arctic.
Louis Arbez, Aurelien Royer, Oliver Gilg, Benjamin Pohl, Jean‐François Buoncristiani, Sophie Montuire   +5 more
wiley   +1 more source

Case Report: Biallelic variants in <i>MRPS36</i>, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome. [PDF]

Front Pediatr
Jiang H, Xu C, Liu Z, Duan R, Yao X, Fu X, Xu J, Kang X, Yu T, Wang Y, Fang F.   +10 more
europepmc   +1 more source

Microglial reactivity and nodule formation are associated with Synaptodendritic damage in the brains of people with HIV‐1

Brain Pathology, EarlyView.
Despite effective ART, neurocognitive impairment persists in people with HIV. Brains from PWH present exacerbated microgliosis and formation of microglial nodules that are actively engaged in neuronal phagocytosis, resulting in neuronal injury and dendritic loss.
Roberta S. Dos Reis, Lauren A. Ignatz, Sathish Selvam, Marc C. E. Wagner, Sara Gianella, Antoine Chaillon, Vanessa Gomez‐Moreno, Jeremy Martison, Leah H. Rubin, Sabina Heberlen, Valentina Stosor, Jordan Lake, Velpandi Ayyavoo   +12 more
wiley   +1 more source