Results 31 to 40 of about 61,249 (214)

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

open access: yesHepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid   +20 more
wiley   +1 more source

Cryptic MHC Polymorphism Revealed but Not Explained by Selection on the Class IIB Peptide-Binding Region [PDF]

open access: yes, 2012
The immune genes of the major histocompatibility complex (MHC) are characterized by extraordinarily high levels of nucleotide and haplotype diversity. This variation is maintained by pathogen-mediated balancing selection that is operating on the peptide ...
Barcaccia   +32 more
core   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

open access: yesHepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan   +19 more
wiley   +1 more source

Drift, not selection, shapes toll-like receptor variation among oceanic island populations [PDF]

open access: yes, 2015
Understanding the relative role of different evolutionary forces in shaping the level and distribution of functional genetic diversity among natural populations is a key issue in evolutionary and conservation biology.
Acevedo-Whitehouse   +78 more
core   +2 more sources

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

open access: yesFEBS Letters, EarlyView.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas   +3 more
wiley   +1 more source

Affine highest weight categories and affine quasihereditary algebras

open access: yes, 2014
Koenig and Xi introduced {\em affine cellular algebras}. Kleshchev and Loubert showed that an important class of {\em infinite dimensional} algebras, the KLR algebras $R(\Gamma)$ of finite Lie type $\Gamma$, are (graded) affine cellular; in fact, the ...
Kleshchev, Alexander S.
core   +1 more source

Environmental variables, habitat discontinuity and life history shaping the genetic structure of Pomatoschistus marmoratus [PDF]

open access: yes, 2014
Coastal lagoons are semi-isolated ecosystems exposed to wide fluctuations of environmental conditions and showing habitat fragmentation. These features may play an important role in separating species into different populations, even at small spatial
A Pérez-Ruzafa   +119 more
core   +3 more sources

Genetic attenuation of ALDH1A1 increases metastatic potential and aggressiveness in colorectal cancer

open access: yesMolecular Oncology, EarlyView.
Aldehyde dehydrogenase 1A1 (ALDH1A1) is a cancer stem cell marker in several malignancies. We established a novel epithelial cell line from rectal adenocarcinoma with unique overexpression of this enzyme. Genetic attenuation of ALDH1A1 led to increased invasive capacity and metastatic potential, the inhibition of proliferation activity, and ultimately ...
Martina Poturnajova   +25 more
wiley   +1 more source

Genes in the postgenomic era [PDF]

open access: yes, 2006
We outline three very different concepts of the gene - 'instrumental', 'nominal', and 'postgenomic'. The instrumental gene has a critical role in the construction and interpretation of experiments in which the relationship between genotype and phenotype ...
B. Alberts   +38 more
core   +2 more sources

Metformin promotes mitochondrial integrity through AMPK‐signaling in Leber's hereditary optic neuropathy

open access: yesFEBS Open Bio, EarlyView.
Metformin mediates mitochondrial quality control in Leber's hereditary optic neuropathy (LHON) fibroblasts carrying mtDNA mutations. At therapeutic levels, metformin activates AMPK signaling to restore mitochondrial dynamics by promoting fusion and restraining fission, while preserving mitochondrial mass, enhancing autophagy/mitophagy and biogenesis ...
Chatnapa Panusatid   +3 more
wiley   +1 more source

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