Clinical Genetics, EarlyView.This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau +7 more
wiley +1 more source
Correction: Salinas-Giegé et al. tRNA Biology in Mitochondria. <i>Int. J. Mol. Sci.</i> 2015, <i>16</i>, 4518-4559. [PDF]
Int J Mol SciSalinas-Giegé T, Giegé R, Giegé P.
europepmc +1 more source
How much biotic nativeness matters across human demographic groups
Conservation Biology, EarlyView.Abstract Many central concepts of conservation biology—such as nativeness—are structured by ecological and social factors. However, the social consequences of using these concepts to make conservation decisions remain inadequately understood. Some researchers argue that nativeness, rather than acting as an objective proxy for important ecological ...
Harold N. Eyster, Rachelle K. Gould
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Publisher Correction: Activation energies of both constructive and destructive cellular biochemistry determine maximum growth temperature in archaea. [PDF]
Commun BiolAffholder A, Ferrière R, Guyot F.
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Geographic risks to functional groups of mammals and birds from habitat loss in Mexico
Conservation Biology, EarlyView.Abstract There is a need to quantify the impact of habitat loss due to anthropogenic factors on different aspects of biodiversity, such as functional trait diversity represented by functional groups (FGs). We developed a metric to assess the weighted risk of loss of habitat for 33 FGs of mammals and 36 FGs of birds in Mexico based on potential ...
Fernando Mayani‐Parás +4 more
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Correction: Exposure-response relationship of cabozantinib in patients with metastatic renal cell carcinoma treated in routine care. [PDF]
Br J CancerBlanchet B +23 more
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The FEBS Journal, EarlyView.Heteromeric cis‐prenyltransferases (CPT) are indispensable for dolichol synthesis and protein N‐glycosylation in most eukaryotes. The catalytic subunits are strongly conserved throughout evolution, in contrast to the evolutionarily variable accessory subunits. The POC1 protein from Paramecium tetraurelia is the smallest identified CPT‐accessory subunit
Agnieszka Onysk +8 more
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Confirmation of biallelic <i>VPS11</i> variants as a cause of complex dystonic syndrome. [PDF]
Clin Park Relat DisordStorck A +7 more
europepmc +1 more source
Lung organoids as a human system for Mycobacteria infection modeling and drug testing
The FEBS Journal, EarlyView.Mycobacterial infections, including tuberculosis (TB) and infections by nontuberculous mycobacteria (NTM), are still public health issues. In 2023, TB caused 1.25 million deaths, while NTM remain a clinical challenge for patients with cystic fibrosis (CF).
Stephen Adonai Leon‐Icaza +4 more
wiley +1 more source