Results 101 to 110 of about 1,318 (167)

A Systematic Review of Topical and Systemic Gentamicin for Wound Healing in Patients With Junctional and Dystrophic Epidermolysis Bullosa

Australasian Journal of Dermatology, EarlyView.
ABSTRACT Epidermolysis bullosa (EB) is an inherited mechanobullous genodermatosis caused by a mutation in genes encoding proteins integral to skin integrity. Premature termination codon readthrough therapies, such as gentamicin, have promise in facilitating full‐length protein expression in patients with EB.
Kelvin Truong, Joseph Joseph, Deborah Poh, Orli Wargon, Artiene Tatian   +4 more
wiley   +1 more source

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

Chronic traumatic encephalopathy in a neuropathologically confirmed Creutzfeldt–Jakob disease cohort

Brain Pathology, EarlyView.
Systematic neuropathological screening of 212 patients with Creutzfeldt–Jakob disease (55% women) identified chronic traumatic encephalopathy in three cases (1.4%), all men with a history of contact sports. These findings represent the first neuropathologically confirmed chronic traumatic encephalopathy cases reported in Spain.
Lluc Bertran, Iban Aldecoa, Arlène Sindikubwabo, Núria Vidal, Rafael Blesa, Mercè Martínez‐Corral, Carlos Nos, Verónica Santiago, Andrea González, Álex Iranzo, Christopher J. Nowinski, Ann C. McKee, Raquel Sánchez Valle, Laura Molina‐Porcel   +13 more
wiley   +1 more source

PDE4D and PDE3B orchestrate distinct cAMP microdomains in 3T3‐L1 adipocytes

British Journal of Pharmacology, EarlyView.
Basal conditions: •Ins/PDE3B lowers cytoplasmic cAMP (cyt‐cAMP) without affecting plasma membrane cAMP (pm‐cAMP). •Insulin decreases lipid droplet cAMP (LD‐cAMP) independent of PDE3B. •FGF1/PDE4D modestly reduces both cyt‐ and pm‐cAMP, while PDE4D alone can modulate LD‐cAMP. ISO stimulation: •Ins/PDE3B has minimal impact on cyt‐cAMP.
Johannes Krier, David Spähn, David Arturo Juarez Lopez, Judith L. Nono, Judith Seigner, Lisa Jacob, Siegfried Ussar, Robert Lukowski, Andreas L. Birkenfeld, Gencer Sancar   +9 more
wiley   +1 more source

Unravelling the phylogeny of armadillos and their kin (Mammalia, Xenarthra, Cingulata) combining morphological, molecular, and stratigraphic data

Cladistics, EarlyView.
Abstract Cingulata, a major lineage of Xenarthra, comprises extinct and extant armoured placental mammals that diversified throughout the Cenozoic. Despite extensive study, phylogenetic hypotheses based on morphological and molecular data remain incongruent, and no total evidence analysis has been conducted. Here, we integrate the largest morphological
Daniel M. Casali, Mariela C. Castro, Martin R. Ciancio, Timothy J. Gaudin, Jeremy L. Bramblett, Alberto Boscaini, Fernando A. Perini, Max C. Langer   +7 more
wiley   +1 more source

Integrative phylogenomics uncovers hidden diversity and repeated cave colonizations in Dinaric pseudoscorpions

Cladistics, EarlyView.
Abstract Subterranean ecosystems harbour exceptional biodiversity shaped by adaptation to extreme environments, yet remain poorly explored. Cave organisms, restricted to small, isolated populations, are extinction‐prone, making integrative species delimitation essential for biodiversity assessment and conservation.
Dora Hlebec, Alba Enguídanos García, Marita Machata, Miquel A. Arnedo   +3 more
wiley   +1 more source

Transgenic selection and underlying mechanisms in apicomplexan parasites

The FEBS Journal, EarlyView.
Transgenic selection markers have driven genetic engineering in apicomplexans, enabling precise, iterative experiments. This review discusses mechanistic details of drug selection markers, strategies for marker recycling, and practical considerations for several clinically relevant parasites.
Swaroop Peddiraju, Rakhee Lohia, Nishith Gupta   +2 more
wiley   +1 more source

The trimeric Shu complex in C. elegans is an ATPase that remodels RAD51 filaments in the homologous recombination‐associated DNA damage response

The FEBS Journal, EarlyView.
The C. elegans Shu complex (RFS‐1/RIP‐1/SWS‐1) is a DNA‐dependent ATPase that regulates RAD‐51 filaments during homologous recombination. The trimer preferentially binds 5′‐exposed DNA, remodels RAD‐51 filaments via ATP hydrolysis, and stabilizes filaments through ATP binding.
Sam Siu Hang Chu, Guangxin Xing, Kichang Paik, Anton Gartner, Hong Ling   +4 more
wiley   +1 more source

Toward a minimal amino acid alphabet for protein design

The FEBS Journal, EarlyView.
Proteins are built from 20 canonical amino acids; however, it is interesting to investigate whether they can also be formed from reduced amino acid alphabets. Using protein design, we designed proteins based on all alphabets comprising 2 to 10 ‘early’ amino acids (those likely to have been present before the origin of life).
Karel Půbal, Kseniia Kushnir, Vojtěch Spiwok, Karolína Loužecká, Vladimír Setnička, Petra Lipovová   +5 more
wiley   +1 more source

Gene Editing for Haemophilia—The Next Frontier

Haemophilia, EarlyView.
ABSTRACT The recently approved haemophilia A and B gene therapies via adeno‐associated virus (AAV) showed a promising therapeutic response after a single injection, but there are still limitations, including the potential loss of transgene expression and restriction in adults.
Mirko Pinotti, Gregory A. Newby, Sundar Selvaraj, Steven W. Pipe   +3 more
wiley   +1 more source