Results 201 to 210 of about 139,693 (301)

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

open access: yesClinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil   +9 more
wiley   +1 more source

FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts

open access: yesCell Proliferation, EarlyView.
FAM20A variants cause AI1G, marked by enamel defects, gingival overgrowth and ectopic calcifications. RNA sequencing of patient‐derived gingival fibroblasts showed dysregulated genes in adhesion, proliferation and signalling pathways. Functional assays revealed increased cell proliferation, impaired ECM interactions and osteogenesis, suggesting FAM20A ...
Kanokwan Sriwattanapong   +9 more
wiley   +1 more source

Autophagy in PE: Dispute, Role and Potential Target

open access: yesCell Proliferation, EarlyView.
Autophagy homeostasis serves as a central hub regulating vascular remodelling during pregnancy. It integrates maternal, genetic, and fetal factors; shapes the functions of immune cells (NK cells, macrophages, and T cells); restrains endothelial inflammatory responses (cytokines, endothelial cell, oxidative/ER stress, and protein aggregation); and ...
Miao Xu   +12 more
wiley   +1 more source

Anemia e outras complicações associadas à eritroblastose fetal

open access: gold
Thais Freitas de Lira   +4 more
openalex   +1 more source

Folate transfer across the placenta during late pregnancy in women with epilepsy: A cross‐sectional, two‐center study

open access: yesEpilepsia, EarlyView.
Abstract Objective In women with epilepsy who are treated with antiseizure medications (ASMs), folate concentrations in maternal serum may not be a good indicator of fetal folate supply, because ASMs can interfere with folate handling by the placenta. We aimed to assess the transplacental folate transfer at birth in persons with epilepsy in comparison ...
Erez Berman   +6 more
wiley   +1 more source

Enhancing macrophage phagocytosis of cancers by disrupting the SIRPα/CD47 signaling axis and targeting MUC1 antigen

open access: yesThe FEBS Journal, EarlyView.
We investigated the role of the signal regulatory protein alpha (SIRPα)/CD47 axis in phagocytosis by disrupting the SIRPA gene in the THP‐1 cell line. The SIRPα KO THP‐1 cells retained their monocyte and macrophage characteristics similar to their wild‐type (WT) counterparts.
Saitong Muneekaew   +5 more
wiley   +1 more source

Leishmania donovani's protein tyrosine phosphatases interact with DUF21 and respond to environmental magnesium

open access: yesThe FEBS Journal, EarlyView.
The Leishmania phosphatase PTP1, and possibly the genetically similar PTP2, interacts with the Leishmania transmembrane protein DUF21. When both ptp1 and ptp2 are knocked out of Leishmania (LdΔPTP1/2), the parasite can no longer survive without magnesium in vitro and has reduced viability in the host macrophage. Conversely, in duf21 knockout (LdΔDUF21),
Kayla Paulini   +6 more
wiley   +1 more source

Recent Progress in Double Filtration Plasmapheresis

open access: yesHemodialysis International, EarlyView.
ABSTRACT Double‐filtration plasmapheresis is an advanced extracorporeal blood purification technique that selectively removes pathogenic macromolecules based on molecular weight. Unlike conventional plasma exchange, double‐filtration plasmapheresis uses a two‐step filtration process to retain beneficial plasma components such as albumin, while ...
Dan Li   +3 more
wiley   +1 more source

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