Results 161 to 170 of about 119,960 (296)

Hox Gene Variation Drives Morphological Specialization of Humpback Grouper Cromileptes altivelis

open access: yesIntegrative Zoology, EarlyView.
Cromileptes altivelis exhibits a distinctive “sunken head and humpback” morphology, formed through cranial remodeling. Genetic analyses identified unique amino acid variants in Hoxa7a and Hoxa10b, with functional tests confirming their role in enhancing osteoblast activity and driving cranial remodeling.
Xiaoying Cao   +4 more
wiley   +1 more source

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

open access: yesActa Ophthalmologica, EarlyView.
Abstract Purpose To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital‐based and large biobank cohorts. Methods We genotyped a cohort of 107 Finnish patients with FECD for the primary associated genetic risk factor, the TCF4 (CTG)>50 expansion, and studied their clinical phenotype.
Inka‐Tuulevi Vähämäki   +10 more
wiley   +1 more source

Clinical and molecular features of primary gliosarcoma with digital spatial whole‐transcriptome analysis of glial and mesenchymal components

open access: yesBrain Pathology, EarlyView.
We report the clinical and genetic features of an institutional cohort of primary adult gliosarcomas compared to glioblastoma. We performed spatial whole‐transcriptome analysis on glial and sarcomatous regions of four cases to compare gene expression profiles and validated differential protein expression for two markers in tissue sections.
Matthew D. Wood   +6 more
wiley   +1 more source

In rats, neurodevelopmental disorders induced by maternal hypoxia are associated with attenuated excitatory neurotransmission in the cingulate cortex

open access: yesBritish Journal of Pharmacology, EarlyView.
Background and Purpose Maternal hypoxia is a recognised risk factor for neurodevelopmental disorders in offspring. Although rodent models of hypoxia have been reported, the detailed pathogenesis of maternal hypoxia‐induced neurodevelopmental disorders remains unclear.
Kentaro Tokudome   +6 more
wiley   +1 more source

Molecular Basis and Clinical Spectrum of WNT10A‐Related Oligodontia

open access: yesClinical Genetics, EarlyView.
Cellular Mechanism behind WNT10A phenotypes. ABSTRACT WNT10A mutations, a major genetic determinant of dental agenesis and ectodermal dysplasia, exert profound effects on craniofacial development. Although classified as rare disorders, these mutations account for more than half of oligodontia cases, reflecting their critical role.
Perennes Elise   +5 more
wiley   +1 more source

Oxidative Stress Drives Cell Cycle Stalling, Apoptosis and Metabolic Suppression in Cystatin B Deficient EPM1 Patient iPSCs

open access: yesCell Proliferation, EarlyView.
CSTB deficient EPM1 iPS cells manifest increased lysosomal activity and oxidative stress, which lead to DNA damage, cell cycle defects and increased apoptosis. As a protective response, metabolism is suppressed. Image created by BioRender https://BioRender.com/t44oc6h.
Shekhar Singh   +4 more
wiley   +1 more source

Targeting the Menin–KMT2A Axis in Acute Leukemia: From Epigenetic Dependency to Clinical Translation

open access: yesEuropean Journal of Haematology, EarlyView.
ABSTRACT Acute leukemias characterized by a shared epigenetic dependency on the menin–KMT2A axis rely on aberrant HOX‐driven transcriptional programs that sustain leukemic self‐renewal and impair differentiation. This dependency is most evident in KMT2A‐rearranged and NPM1‐mutated acute myeloid leukemia (AML), but also extends to other HOX‐dependent ...
Antonella Bruzzese   +12 more
wiley   +1 more source

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