Results 251 to 260 of about 55,819 (299)

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

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
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   +1 more
wiley   +1 more source

Astrocytic Mitochondria Transplantation Rescues Neuron Loss and Dendritic Injuries in Acute Cerebral Ischemic Stroke Mouse Model by Flexibly Regulating Mitochondria Dynamics

open access: yesAnnals of Neurology, Volume 99, Issue 6, Page 1571-1588, June 2026.
Objective Cerebral ischemic stroke causes neuronal oxygen/energy deprivation, disrupting mitochondrial function including reduced membrane potential and bioenergetics, exacerbating neuronal injury. Mitochondrial defects are, therefore, a central neuropathological node and potential therapeutic target.
Ning Bian   +9 more
wiley   +1 more source

Social and Anxiety‐Like Behaviors Are Affected in Juvenile Mice With Gli2+/− but Not Gli3+/𝛥699 Genetic Modifications

open access: yesBrain and Behavior, Volume 16, Issue 6, June 2026.
Across Gli3+/Δ699, Gli2+/−, and combined Gli2+/−;Gli3+/Δ699 mice (males and females, with wild‐type controls), GLI2 and GLI3 differentially regulate anogenital distance and juvenile behavior, with amplified effects under combined disruption, whereas circulating steroids and sexually dimorphic nucleus area remain unchanged. Created in BioRender. Niepsuj,
Thomas Niepsuj   +6 more
wiley   +1 more source

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

open access: yes
American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1427-1430, June 2026.
Alberto De Rosa   +7 more
wiley   +1 more source

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